LMNA (lamin A/C)

Gene

• Entrez ID: 4000
• Gene name: Lamin A/C
• Gene symbol: LMNA
• Synonyms (NCBI Gene): CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1
• Chromosome: 1
• Chromosome location: 1q22
• Summary: The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassem

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11575937	G>A,T	Uncertain-significance, pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs17847242	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs28928900	C>G,T	Pathogenic, uncertain-significance, not-provided	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs28928901	C>T	Pathogenic, not-provided	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs28928902	C>G,T	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant, non coding transcript variant
rs28928903	G>A,C	Pathogenic, not-provided	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs28933090	T>A,G	Pathogenic, uncertain-significance, not-provided	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs28933091	C>A,G	Pathogenic, not-provided	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs28933092	A>G,T	Pathogenic, not-provided	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs28933093	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs41314033	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs41314035	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs56673169	G>C	Pathogenic, not-provided	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs56699480	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs56771886	T>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant, non coding transcript variant
rs56793579	C>G,T	Pathogenic, likely-pathogenic, not-provided	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs56816490	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs56851164	T>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs56984562	C>A,G,T	Pathogenic-likely-pathogenic, not-provided, likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs57077886	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs57207746	G>A	Not-provided, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs57318642	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs57508089	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant
rs57520892	G>A,C	Uncertain-significance, pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs57629361	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs57730570	G>A,T	Pathogenic, likely-pathogenic, not-provided	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs57830985	G>A,T	Uncertain-significance, pathogenic, not-provided	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs57920071	C>T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs57966821	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs57983345	A>G,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs58013325	->C	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs58048078	T>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, stop gained, non coding transcript variant, missense variant
rs58327533	C>G,T	Pathogenic-likely-pathogenic, not-provided	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs58362413	G>A,C	Pathogenic, not-provided	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs58389804	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs58436778	A>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs58596362	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs58672172	C>T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs58912633	C>G,T	Pathogenic, not-provided	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs58917027	A>C,G	Uncertain-significance, not-provided, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs58922911	T>G	Pathogenic, not-provided	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs58932704	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs58978449	AAG>-	Pathogenic-likely-pathogenic, likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs59026483	C>T	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs59040894	G>A,T	Uncertain-significance, not-provided, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs59267781	C>G	Not-provided, pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs59270054	G>A,C	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs59301204	G>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs59332535	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs59564495	GGG>-,GG	Pathogenic, likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, frameshift variant
rs59684335	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs59885338	C>T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs59886214	G>A	Pathogenic, not-provided	Coding sequence variant, synonymous variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs59914820	C>G,T	Not-provided, likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs59981161	G>C,T	Not-provided, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs60290646	A>G,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs60310264	G>A	Pathogenic, not-provided	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs60446065	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs60458016	G>A,T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs60580541	C>T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs60652225	T>C,G	Not-provided, pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs60662302	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs60682848	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs60864230	G>A,C,T	Uncertain-significance, pathogenic, likely-pathogenic, not-provided	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs60872029	AAG>-	Pathogenic	Inframe deletion, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs60890628	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs60934003	T>C	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs61046466	C>T	Pathogenic, not-provided	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs61064130	G>A,T	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, intron variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs61094188	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs61195471	G>A	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs61214927	G>A	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs61235244	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs61282106	G>A	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs61295588	T>C	Pathogenic, not-provided	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs61444459	G>A,C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs61578124	G>C,T	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs61661343	T>C	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs61672878	G>A,T	Uncertain-significance, pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs62636507	A>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs79907212	A>C,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80338938	C>A,T	Not-provided, uncertain-significance, pathogenic	Missense variant, coding sequence variant, intron variant
rs80356807	A>C,G	Not-provided, pathogenic	Intron variant
rs80356814	C>T	Not-provided, pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs111569862	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs113436208	G>A,C	Not-provided, pathogenic	Splice donor variant, genic downstream transcript variant, intron variant
rs113610699	A>C,G	Pathogenic	Splice acceptor variant
rs113860699	T>A,C,G	Pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs121912493	G>A	Pathogenic, not-provided, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121912494	G>A	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs121912495	T>C	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs121912496	C>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs137969290	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs138098342	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs139875047	G>A,C,T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs142000963	C>A,T	Likely-pathogenic, uncertain-significance, not-provided, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, missense variant
rs142191737	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs143189394	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant, non coding transcript variant
rs144851946	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, missense variant
rs148557956	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs149339264	C>A,T	Pathogenic, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs150645079	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs150840924	C>T	Uncertain-significance, not-provided, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs150924946	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs199474724	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs201583907	G>A,C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607539	G>A,C	Pathogenic, likely-pathogenic, not-provided	Intron variant
rs267607540	GAA>-	Pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, inframe deletion, coding sequence variant
rs267607543	G>A,C	Not-provided, pathogenic	Intron variant
rs267607545	G>A,C,T	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs267607547	T>C	Not-provided, pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs267607548	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607552	G>A,T	Pathogenic	Splice donor variant
rs267607554	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs267607555	C>T	Pathogenic, likely-pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs267607557	T>C,G	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs267607560	C>T	Not-provided, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs267607561	C>A,T	Pathogenic, uncertain-significance, not-provided	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs267607570	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs267607571	G>A,T	Pathogenic, likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs267607573	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs267607576	G>A,C	Not-provided, uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607577	GCACGCAC>-,GCACGCACGCAC	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, frameshift variant
rs267607578	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607581	C>G	Not-provided, likely-pathogenic, pathogenic	Intron variant
rs267607582	T>C,G	Pathogenic, not-provided	Intron variant
rs267607587	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs267607588	G>A,C,T	Pathogenic, not-provided	Splice donor variant
rs267607590	G>A,T	Not-provided, pathogenic	Splice donor variant
rs267607591	G>A	Not-provided, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs267607592	G>A	Not-provided, pathogenic	Splice donor variant
rs267607593	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs267607594	T>C	Not-provided, likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs267607599	A>G,T	Not-provided, uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607600	A>G	Not-provided, likely-pathogenic	Splice acceptor variant
rs267607603	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs267607609	G>A,C	Not-provided, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs267607613	C>T	Uncertain-significance, likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs267607617	C>G,T	Not-provided, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs267607618	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs267607620	C>G,T	Not-provided, pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs267607622	G>A,C,T	Not-provided, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs267607623	C>A,T	Not-provided, uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs267607629	C>A,G	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs267607631	G>A,C	Not-provided, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs267607632	G>A,C	Not-provided, likely-pathogenic, pathogenic	Splice donor variant
rs267607634	G>A,C	Not-provided, uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607637	G>A	Not-provided, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607640	G>A	Pathogenic	Splice donor variant
rs267607644	T>C	Not-provided, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs267607646	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs267607649	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs368386019	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs370219874	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant, non coding transcript variant
rs371635492	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs373721390	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs374726751	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs374926367	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs375516745	G>A	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs386134243	C>A,T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs397517886	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs397517887	ATGGAGATCCACGCC>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs397517888	->TGGA	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs397517889	C>T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397517895	C>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs397517897	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Stop gained, non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs397517901	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs397517904	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs397517905	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant, missense variant
rs397517906	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs397517908	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs397517909	G>T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs397517911	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397517912	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs397517915	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs483352811	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs556237236	G>A,C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs727505038	G>C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs730880132	T>C	Pathogenic	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs730882262	T>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs753988867	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs762836610	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs763224059	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs763625309	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs769561386	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs771623461	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs774817302	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs780302064	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs786205448	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs794726921	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs794728586	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs794728588	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs794728589	G>A,C	Pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs794728591	C>T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794728593	G>A	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs794728594	G>A	Pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs794728595	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs794728596	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728597	AAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant, 5 prime UTR variant
rs794728598	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, initiator codon variant, non coding transcript variant, genic upstream transcript variant
rs794728599	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs794728601	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs794728602	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs794728603	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs794728604	->T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs794728605	GAT>TGGTCACCTGAGAG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs794728606	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs794728607	AGGCTGCAGAC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs794728609	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs794728610	AC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs794728613	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs797044485	G>A	Pathogenic	Missense variant, coding sequence variant, initiator codon variant, non coding transcript variant
rs797044486	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs797044487	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, synonymous variant, non coding transcript variant
rs797044488	G>A,C	Pathogenic	Genic downstream transcript variant, intron variant
rs797044758	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs797045011	T>C	Pathogenic, likely-pathogenic	Splice donor variant
rs863225024	->G	Pathogenic, not-provided	Coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs863225270	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs864309525	GAG>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant, genic upstream transcript variant
rs869025458	GC>AG	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs869125101	G>A,C	Likely-pathogenic	Splice donor variant
rs876657649	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876657650	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs876661352	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs878853220	T>G	Pathogenic	Intron variant
rs878855234	C>T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs879253913	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs879253929	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs879253932	GG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs879253934	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs879253975	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs879254081	A>G	Likely-pathogenic	Splice acceptor variant
rs879254082	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886041211	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886043109	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886043189	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant
rs886043745	CG>T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1057515421	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1057518971	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1060502211	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1060502214	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060502215	G>A,C,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064793674	GGTGCGCT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs1064793882	AGAAC>TCT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064794966	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064796394	G>-	Likely-pathogenic	Splice donor variant, frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064796677	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1085307888	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1114167345	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1131691263	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1131691980	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1165819867	G>A,T	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1187380696	A>C,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1228406418	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs1281896947	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs1340894696	C>G,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs1365042239	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1448275854	G>C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs1553261855	->TC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553261858	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1553261891	A>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, stop gained
rs1553261982	->CCGA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553262007	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1553264593	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1553264624	AGCGCACGCTGGAGG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe indel, 5 prime UTR variant
rs1553264668	T>G	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1553265165	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1553265180	T>A,G	Likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs1553265328	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553265342	GC>TT	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553265369	GAG>-	Likely-pathogenic	Inframe indel, inframe deletion, non coding transcript variant, coding sequence variant, stop gained
rs1553265433	G>C	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs1553265436	GAACAG>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1553265455	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1553265606	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, synonymous variant
rs1553265630	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553265647	CG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553265660	C>-	Uncertain-significance, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553265733	G>A	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs1553265736	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553265739	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553265755	AGGGCGAGGAGGAGAGG>-	Pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant
rs1553265760	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553265761	GAG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1553265924	T>G	Likely-pathogenic	Splice donor variant
rs1553265999	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553266024	T>-	Likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553266098	->CCCTACCGACC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553266337	G>C	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant, missense variant
rs1553266460	GCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTGCCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCA	Pathogenic	Intron variant, non coding transcript variant, splice donor variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1558115754	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1558115970	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs1558133157	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1572331707	->C	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1572332164	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs1572332235	G>C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs1572332762	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs1572358674	TG>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs1572358821	CTGCA>ACTTGAAG	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs1572358860	A>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs1572359505	A>G	Likely-pathogenic	Splice acceptor variant
rs1572359848	TGAGAGCCGGCTGGCGGAT>CC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572362631	CCCGTGAGCGGGAC>AGG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572362885	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572363509	AGGTGCTGGCAGTGTCCTCTGGCCGG>-	Likely-pathogenic	Intron variant
rs1572364243	TG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572366216	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572366412	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1572366593	GTACGGC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572366608	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572367812	->G	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1572370360	A>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019532	hsa-miR-340-5p	Sequencing	20371350
MIRT021388	hsa-miR-9-5p	Microarray	17612493
MIRT022394	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT052409	hsa-let-7a-5p	CLASH	23622248
MIRT051592	hsa-let-7e-5p	CLASH	23622248
MIRT040169	hsa-miR-615-3p	CLASH	23622248
MIRT038445	hsa-miR-296-3p	CLASH	23622248
MIRT731197	hsa-miR-205-5p	Luciferase reporter assay, Microarray	25597268
MIRT731197	hsa-miR-205-5p	Luciferase reporter assay, Microarray	25597268
MIRT1111643	hsa-miR-1207-5p	CLIP-seq
MIRT1111644	hsa-miR-1266	CLIP-seq
MIRT1111645	hsa-miR-1909	CLIP-seq
MIRT1111646	hsa-miR-198	CLIP-seq
MIRT1111647	hsa-miR-2110	CLIP-seq
MIRT1111648	hsa-miR-3144-5p	CLIP-seq
MIRT1111649	hsa-miR-3150a-3p	CLIP-seq
MIRT1111650	hsa-miR-3175	CLIP-seq
MIRT1111651	hsa-miR-3191	CLIP-seq
MIRT1111652	hsa-miR-3199	CLIP-seq
MIRT1111653	hsa-miR-3664-3p	CLIP-seq
MIRT1111654	hsa-miR-4260	CLIP-seq
MIRT1111655	hsa-miR-4269	CLIP-seq
MIRT1111656	hsa-miR-4280	CLIP-seq
MIRT1111657	hsa-miR-4434	CLIP-seq
MIRT1111658	hsa-miR-4436b-3p	CLIP-seq
MIRT1111659	hsa-miR-4447	CLIP-seq
MIRT1111660	hsa-miR-4472	CLIP-seq
MIRT1111661	hsa-miR-4488	CLIP-seq
MIRT1111662	hsa-miR-4492	CLIP-seq
MIRT1111663	hsa-miR-4498	CLIP-seq
MIRT1111664	hsa-miR-4505	CLIP-seq
MIRT1111665	hsa-miR-4508	CLIP-seq
MIRT1111666	hsa-miR-4514	CLIP-seq
MIRT1111667	hsa-miR-4515	CLIP-seq
MIRT1111668	hsa-miR-4516	CLIP-seq
MIRT1111669	hsa-miR-4518	CLIP-seq
MIRT1111670	hsa-miR-4532	CLIP-seq
MIRT1111671	hsa-miR-4651	CLIP-seq
MIRT1111672	hsa-miR-4652-5p	CLIP-seq
MIRT1111673	hsa-miR-4685-5p	CLIP-seq
MIRT1111674	hsa-miR-4692	CLIP-seq
MIRT1111675	hsa-miR-4695-5p	CLIP-seq
MIRT1111676	hsa-miR-4697-5p	CLIP-seq
MIRT1111677	hsa-miR-4707-5p	CLIP-seq
MIRT1111678	hsa-miR-4730	CLIP-seq
MIRT1111679	hsa-miR-4731-5p	CLIP-seq
MIRT1111680	hsa-miR-4742-5p	CLIP-seq
MIRT1111681	hsa-miR-4763-3p	CLIP-seq
MIRT1111682	hsa-miR-485-5p	CLIP-seq
MIRT1111683	hsa-miR-486-3p	CLIP-seq
MIRT1111684	hsa-miR-491-5p	CLIP-seq
MIRT1111685	hsa-miR-513a-5p	CLIP-seq
MIRT1111686	hsa-miR-520a-5p	CLIP-seq
MIRT1111687	hsa-miR-525-5p	CLIP-seq
MIRT1111688	hsa-miR-608	CLIP-seq
MIRT1111689	hsa-miR-637	CLIP-seq
MIRT1111690	hsa-miR-762	CLIP-seq
MIRT1111691	hsa-miR-765	CLIP-seq
MIRT1111692	hsa-miR-767-5p	CLIP-seq
MIRT1111693	hsa-miR-939	CLIP-seq
MIRT1111694	hsa-miR-1273e	CLIP-seq
MIRT1111695	hsa-miR-129-5p	CLIP-seq
MIRT1111696	hsa-miR-1321	CLIP-seq
MIRT1111697	hsa-miR-1343	CLIP-seq
MIRT1111698	hsa-miR-185	CLIP-seq
MIRT1111699	hsa-miR-205	CLIP-seq
MIRT1111647	hsa-miR-2110	CLIP-seq
MIRT1111700	hsa-miR-298	CLIP-seq
MIRT1111701	hsa-miR-3074-5p	CLIP-seq
MIRT1111649	hsa-miR-3150a-3p	CLIP-seq
MIRT1111702	hsa-miR-3150b-3p	CLIP-seq
MIRT1111703	hsa-miR-3154	CLIP-seq
MIRT1111704	hsa-miR-3159	CLIP-seq
MIRT1111650	hsa-miR-3175	CLIP-seq
MIRT1111705	hsa-miR-3179	CLIP-seq
MIRT1111706	hsa-miR-3183	CLIP-seq
MIRT1111707	hsa-miR-3202	CLIP-seq
MIRT1111708	hsa-miR-342-5p	CLIP-seq
MIRT1111709	hsa-miR-3615	CLIP-seq
MIRT1111710	hsa-miR-3690	CLIP-seq
MIRT1111711	hsa-miR-3909	CLIP-seq
MIRT1111712	hsa-miR-3917	CLIP-seq
MIRT1111713	hsa-miR-3936	CLIP-seq
MIRT1111714	hsa-miR-4254	CLIP-seq
MIRT1111654	hsa-miR-4260	CLIP-seq
MIRT1111715	hsa-miR-4287	CLIP-seq
MIRT1111716	hsa-miR-4306	CLIP-seq
MIRT1111658	hsa-miR-4436b-3p	CLIP-seq
MIRT1111717	hsa-miR-4461	CLIP-seq
MIRT1111718	hsa-miR-4469	CLIP-seq
MIRT1111719	hsa-miR-4476	CLIP-seq
MIRT1111720	hsa-miR-4491	CLIP-seq
MIRT1111721	hsa-miR-4644	CLIP-seq
MIRT1111722	hsa-miR-4653-3p	CLIP-seq
MIRT1111723	hsa-miR-4657	CLIP-seq
MIRT1111724	hsa-miR-4664-5p	CLIP-seq
MIRT1111725	hsa-miR-4668-5p	CLIP-seq
MIRT1111726	hsa-miR-4685-3p	CLIP-seq
MIRT1111673	hsa-miR-4685-5p	CLIP-seq
MIRT1111727	hsa-miR-4723-3p	CLIP-seq
MIRT1111728	hsa-miR-4739	CLIP-seq
MIRT1111729	hsa-miR-4756-5p	CLIP-seq
MIRT1111730	hsa-miR-4784	CLIP-seq
MIRT1111731	hsa-miR-539	CLIP-seq
MIRT1111732	hsa-miR-581	CLIP-seq
MIRT1111733	hsa-miR-642a	CLIP-seq
MIRT1111734	hsa-miR-651	CLIP-seq
MIRT1111735	hsa-miR-671-5p	CLIP-seq
MIRT1111691	hsa-miR-765	CLIP-seq
MIRT1111693	hsa-miR-939	CLIP-seq
MIRT2031155	hsa-miR-1182	CLIP-seq
MIRT2031156	hsa-miR-1538	CLIP-seq
MIRT2031157	hsa-miR-1915	CLIP-seq
MIRT2031158	hsa-miR-1972	CLIP-seq
MIRT2031159	hsa-miR-214	CLIP-seq
MIRT2031160	hsa-miR-3163	CLIP-seq
MIRT1111706	hsa-miR-3183	CLIP-seq
MIRT2031161	hsa-miR-320a	CLIP-seq
MIRT2031162	hsa-miR-320b	CLIP-seq
MIRT2031163	hsa-miR-320c	CLIP-seq
MIRT2031164	hsa-miR-320d	CLIP-seq
MIRT1111709	hsa-miR-3615	CLIP-seq
MIRT2031165	hsa-miR-3619-5p	CLIP-seq
MIRT2031166	hsa-miR-3714	CLIP-seq
MIRT2031167	hsa-miR-371-5p	CLIP-seq
MIRT1111711	hsa-miR-3909	CLIP-seq
MIRT1111712	hsa-miR-3917	CLIP-seq
MIRT1111715	hsa-miR-4287	CLIP-seq
MIRT2031168	hsa-miR-4429	CLIP-seq
MIRT1111718	hsa-miR-4469	CLIP-seq
MIRT2031169	hsa-miR-4509	CLIP-seq
MIRT1111666	hsa-miR-4514	CLIP-seq
MIRT2031170	hsa-miR-4660	CLIP-seq
MIRT1111726	hsa-miR-4685-3p	CLIP-seq
MIRT2031171	hsa-miR-4690-5p	CLIP-seq
MIRT1111674	hsa-miR-4692	CLIP-seq
MIRT1111727	hsa-miR-4723-3p	CLIP-seq
MIRT2031172	hsa-miR-4744	CLIP-seq
MIRT2031173	hsa-miR-4745-3p	CLIP-seq
MIRT2031174	hsa-miR-4747-5p	CLIP-seq
MIRT2031175	hsa-miR-4763-5p	CLIP-seq
MIRT2031176	hsa-miR-548aa	CLIP-seq
MIRT1111733	hsa-miR-642a	CLIP-seq
MIRT2031177	hsa-miR-761	CLIP-seq
MIRT1111692	hsa-miR-767-5p	CLIP-seq
MIRT2031160	hsa-miR-3163	CLIP-seq
MIRT2031166	hsa-miR-3714	CLIP-seq
MIRT1111720	hsa-miR-4491	CLIP-seq
MIRT1111666	hsa-miR-4514	CLIP-seq
MIRT1111723	hsa-miR-4657	CLIP-seq
MIRT1111674	hsa-miR-4692	CLIP-seq
MIRT2031176	hsa-miR-548aa	CLIP-seq
MIRT2261973	hsa-miR-9	CLIP-seq
MIRT2261974	hsa-miR-1470	CLIP-seq
MIRT1111700	hsa-miR-298	CLIP-seq
MIRT1111715	hsa-miR-4287	CLIP-seq
MIRT1111658	hsa-miR-4436b-3p	CLIP-seq
MIRT1111659	hsa-miR-4447	CLIP-seq
MIRT1111718	hsa-miR-4469	CLIP-seq
MIRT1111660	hsa-miR-4472	CLIP-seq
MIRT1111661	hsa-miR-4488	CLIP-seq
MIRT1111671	hsa-miR-4651	CLIP-seq
MIRT2261975	hsa-miR-4667-3p	CLIP-seq
MIRT1111726	hsa-miR-4685-3p	CLIP-seq
MIRT1111673	hsa-miR-4685-5p	CLIP-seq
MIRT1111676	hsa-miR-4697-5p	CLIP-seq
MIRT1111683	hsa-miR-486-3p	CLIP-seq
MIRT1111688	hsa-miR-608	CLIP-seq
MIRT1111735	hsa-miR-671-5p	CLIP-seq
MIRT2031155	hsa-miR-1182	CLIP-seq
MIRT2031157	hsa-miR-1915	CLIP-seq
MIRT2031160	hsa-miR-3163	CLIP-seq
MIRT1111706	hsa-miR-3183	CLIP-seq
MIRT2031161	hsa-miR-320a	CLIP-seq
MIRT2031162	hsa-miR-320b	CLIP-seq
MIRT2031163	hsa-miR-320c	CLIP-seq
MIRT2031164	hsa-miR-320d	CLIP-seq
MIRT1111709	hsa-miR-3615	CLIP-seq
MIRT2031166	hsa-miR-3714	CLIP-seq
MIRT2031167	hsa-miR-371-5p	CLIP-seq
MIRT1111711	hsa-miR-3909	CLIP-seq
MIRT1111712	hsa-miR-3917	CLIP-seq
MIRT1111715	hsa-miR-4287	CLIP-seq
MIRT2031168	hsa-miR-4429	CLIP-seq
MIRT1111718	hsa-miR-4469	CLIP-seq
MIRT1111661	hsa-miR-4488	CLIP-seq
MIRT2031169	hsa-miR-4509	CLIP-seq
MIRT1111670	hsa-miR-4532	CLIP-seq
MIRT1111671	hsa-miR-4651	CLIP-seq
MIRT2031170	hsa-miR-4660	CLIP-seq
MIRT1111726	hsa-miR-4685-3p	CLIP-seq
MIRT1111676	hsa-miR-4697-5p	CLIP-seq
MIRT1111727	hsa-miR-4723-3p	CLIP-seq
MIRT2031172	hsa-miR-4744	CLIP-seq
MIRT2031174	hsa-miR-4747-5p	CLIP-seq
MIRT1111683	hsa-miR-486-3p	CLIP-seq
MIRT1111688	hsa-miR-608	CLIP-seq
MIRT1111733	hsa-miR-642a	CLIP-seq
MIRT1111692	hsa-miR-767-5p	CLIP-seq
MIRT2031155	hsa-miR-1182	CLIP-seq
MIRT2031157	hsa-miR-1915	CLIP-seq
MIRT2031161	hsa-miR-320a	CLIP-seq
MIRT2031162	hsa-miR-320b	CLIP-seq
MIRT2031163	hsa-miR-320c	CLIP-seq
MIRT2031164	hsa-miR-320d	CLIP-seq
MIRT2031166	hsa-miR-3714	CLIP-seq
MIRT2031167	hsa-miR-371-5p	CLIP-seq
MIRT2031168	hsa-miR-4429	CLIP-seq
MIRT2031169	hsa-miR-4509	CLIP-seq
MIRT2031170	hsa-miR-4660	CLIP-seq
MIRT2031172	hsa-miR-4744	CLIP-seq
MIRT2031174	hsa-miR-4747-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	TAS	3453101, 8344919
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005515	Function	Protein binding	IPI	10381623, 10514485, 10727209, 11313760, 11587540, 11801724, 14597414, 15140953, 15161933, 15671068, 16247757, 19323649, 19933576, 20000738, 20467437, 20580717, 20618440, 21346760, 21418524, 21949239, 21988832, 21993218, 22399800, 22555292, 23539603, 23658700, 23977161, 24375709, 249
GO:0005634	Component	Nucleus	HDA	16791210
GO:0005634	Component	Nucleus	IDA	18809582, 20810912, 24327345
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	18606848, 27534416
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	IMP	21610090
GO:0005635	Component	Nuclear envelope	TAS	3453101
GO:0005638	Component	Lamin filament	IEA
GO:0005638	Component	Lamin filament	TAS	10080180
GO:0005652	Component	Nuclear lamina	IBA
GO:0005652	Component	Nuclear lamina	IDA	2188730, 2344612, 24741066, 37788673, 37832547
GO:0005652	Component	Nuclear lamina	IEA
GO:0005652	Component	Nuclear lamina	IEA
GO:0005652	Component	Nuclear lamina	TAS	8344919
GO:0005654	Component	Nucleoplasm	IDA	24741066, 27534416
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	TAS	8344919
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006997	Process	Nucleus organization	IEA
GO:0006998	Process	Nuclear envelope organization	IBA
GO:0006998	Process	Nuclear envelope organization	IDA	2188730, 24741066, 37788673, 37832547
GO:0006998	Process	Nuclear envelope organization	IEA
GO:0006998	Process	Nuclear envelope organization	IEA
GO:0006998	Process	Nuclear envelope organization	IMP	27534416
GO:0007097	Process	Nuclear migration	IBA
GO:0007517	Process	Muscle organ development	IMP	10080180
GO:0008104	Process	Intracellular protein localization	IMP	27534416
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	27534416
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016363	Component	Nuclear matrix	IDA	31548606
GO:0016363	Component	Nuclear matrix	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030334	Process	Regulation of cell migration	ISS
GO:0030951	Process	Establishment or maintenance of microtubule cytoskeleton polarity	IEA
GO:0030951	Process	Establishment or maintenance of microtubule cytoskeleton polarity	ISS
GO:0031507	Process	Heterochromatin formation	IBA
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031965	Component	Nuclear membrane	HDA	16791210
GO:0031965	Component	Nuclear membrane	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0032204	Process	Regulation of telomere maintenance	IMP	25399868
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0034504	Process	Protein localization to nucleus	ISS
GO:0035861	Component	Site of double-strand break	IDA	31548606
GO:0042802	Function	Identical protein binding	IPI	25910212
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10080180
GO:0051664	Process	Nuclear pore localization	IBA
GO:0055015	Process	Ventricular cardiac muscle cell development	IEA
GO:0071456	Process	Cellular response to hypoxia	IEP	20810912
GO:0072201	Process	Negative regulation of mesenchymal cell proliferation	IEA
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IEA
GO:0090398	Process	Cellular senescence	IDA	20458013
GO:0090435	Process	Protein localization to nuclear envelope	IBA
GO:0160123	Function	Structural constituent of nuclear lamina	IDA	2188730, 2344612, 24741066, 37788673, 37832547
GO:0160123	Function	Structural constituent of nuclear lamina	IEA
GO:1900180	Process	Regulation of protein localization to nucleus	IEA
GO:1903243	Process	Negative regulation of cardiac muscle hypertrophy in response to stress	IEA
GO:1903243	Process	Negative regulation of cardiac muscle hypertrophy in response to stress	ISS
GO:1990683	Process	DNA double-strand break attachment to nuclear envelope	IDA	31548606
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 150330
• HGNC: 6636
• e!Ensembl: ENSG00000160789

Protein

• UniProt ID: P02545
• Protein name: Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lamin) (Renal carcinoma antigen NY-REN-32)]
• Protein function: [Lamin-A/C]: Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:10
• PDB: 1IFR, 1IVT, 1X8Y, 2XV5, 2YPT, 3GEF, 3V4Q, 3V4W, 3V5B, 6GHD, 6JLB, 6RPR, 6SNZ, 6YF5, 6YJD, 7CRG, 7D9N, 7WZZ, 7X1B, 7X5D, 7YVD, 7Z21, 8I33, 9J8M, 9J8N, 9J8O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00038	Filament	30 → 386	Intermediate filament protein	Coiled-coil
  PF00932	LTD	433 → 545	Lamin Tail Domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: In the arteries, prelamin-A/C accumulation is not observed in young healthy vessels but is prevalent in medial vascular smooth muscle cells (VSMCs) from aged individuals and in atherosclerotic lesions, where it often colocalizes with s
• Sequence:

  METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLR
  LRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARN
  TKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAK
  KQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
  LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRID
  SLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQ
  ELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK
  LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
  YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAM
  RKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASA
  SGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQN
  CSIM

• Sequence length: 664

Pathways

KEGG:

Apoptosis
Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Reactome:

Nuclear Envelope Breakdown
Initiation of Nuclear Envelope (NE) Reformation
Breakdown of the nuclear lamina
XBP1(S) activates chaperone genes
Depolymerisation of the Nuclear Lamina
Signaling by BRAF and RAF fusions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs2102881813, rs58932704, rs267607631, rs57629361, rs59332535	RCV001814547 RCV001813989 RCV001836884 RCV001814041 RCV001814042	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic; Pathogenic	rs386134243	RCV000852407	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic	rs1114167345, rs727505038	RCV000491922 RCV000511737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic	rs1651341099	RCV001200924	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bethlem myopathy 1A	Likely pathogenic; Pathogenic	rs61444459	RCV005089469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Likely pathogenic; Pathogenic	rs2102898301, rs2102901937, rs1057515421, rs2527991248, rs28933093, rs386134243, rs1553265647, rs397517889, rs60682848, rs267607573, rs56816490, rs267607554, rs869125101, rs267607577, rs267607571, rs59332535, rs1651642668	RCV001844768 RCV002271814 RCV001798692 RCV003487231 RCV001170451 RCV003149579 RCV001170980 RCV005402823 RCV001170453 RCV003531940 RCV000769726 RCV005402824 RCV000781511 RCV000157296 RCV000768712 RCV003230389 RCV001170982	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2102890974, rs2102896324, rs2102879360, rs2102895466, rs2102890051, rs2527968714, rs2527967028, rs2527981305, rs2527988932, rs2527990239, rs2528012634, rs59270054, rs1222398892, rs794728589, rs794728593, rs267607623, rs1553265865, rs794728595, rs2527968047, rs2528006468, rs879254081, rs2527828780, rs149339264, rs267607545, rs2528007230, rs2527935805, rs2527972658, rs58932704, rs57520892, rs28933091, rs57920071, rs61672878, rs28933093, rs2527834799, rs1231097123, rs2102816719, rs1553265660, rs1553265455, rs386134243, rs267607600, rs267607578, rs1553265755, rs1553266098, rs1553264668, rs267607539, rs57730570, rs1553265606, rs1558115754, rs267607561, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs61195471, rs60682848, rs267607573, rs58978449, rs267607593, rs56816490, rs267607554, rs1572367812, rs113610699, rs1365042239, rs1572359848, rs61295588, rs267607555, rs267607590, rs267607618, rs267607552, rs57629361, rs267607592, rs267607581, rs61444459, rs59040894, rs267607560, rs267607570, rs59026483, rs267607571, rs80356807, rs58327533, rs59914820, rs59684335, rs1651352665, rs869125101	RCV004995732 RCV002395876 RCV004641839 RCV004990502 RCV002361304 RCV002354035 RCV002345004 RCV002378765 RCV002371739 RCV002387356 RCV002405725 RCV002430693 RCV004071975 RCV005404350 RCV002399655 RCV000247014 RCV004629160 RCV002399656 RCV005405938 RCV003177759 RCV002392730 RCV003217711 RCV000250959 RCV000248263 RCV003278428 RCV003278430 RCV003360740 RCV004639121 RCV004018633 RCV005589769 RCV002390112 RCV002321484 RCV004018635 RCV004371716 RCV004524853 RCV004524855 RCV002404566 RCV005589861 RCV000620788 RCV005403727 RCV000621248 RCV002456296 RCV005367448 RCV000618096 RCV000619007 RCV004025260 RCV002369757 RCV002343440 RCV003165920 RCV003343619 RCV000620488 RCV000618545 RCV000242991 RCV005364913 RCV000618699 RCV002362662 RCV000618154 RCV003298080 RCV000617680 RCV002371856 RCV000619789 RCV005652443 RCV005652450 RCV004028046 RCV002363199 RCV002362688 RCV005348065 RCV002321554 RCV000621430 RCV002381363 RCV002381366 RCV006342097 RCV004629146 RCV002390205 RCV002390206 RCV000246865 RCV005589774 RCV005364950 RCV002433553 RCV000620401 RCV000619878 RCV000619042 RCV002362690 RCV002381367 RCV002381368 RCV006342098 RCV002371899 RCV005348308 RCV002355077 RCV006347577	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs57920071, rs267607581	RCV001174239 RCV001174242	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2	Likely pathogenic; Pathogenic	rs1651453317, rs2102817550, rs1553264668, rs2102816719, rs2102818068, rs2102818172, rs2102818731, rs1649736692, rs28933093, rs2102878324, rs2527973445, rs2102888695, rs2102889960, rs2102890220, rs2102890245, rs2102890974, rs2102891579, rs2102893828, rs58013325, rs2102896324, rs2102891243, rs2102882192, rs2102818240, rs2102818745, rs2102883099, rs2102818749, rs769977710, rs2102878915, rs2102865805, rs2102883169, rs199474724, rs2102879360, rs2102896007, rs2102817644, rs2102817698, rs2102895541, rs2102888292, rs2102817088, rs2102817667, rs2102895466, rs2102887031, rs2102890051, rs2102879250, rs1553262031, rs111569862, rs267607577, rs1222398892, rs2527936480, rs2527972446, rs267607627, rs2527835305, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs2527829303, rs2527973222, rs2527989438, rs2527968047, rs2528018166, rs60992550, rs778798942, rs2528012899, rs121912494, rs2527997430, rs2527833277, rs2527831101, rs2527834566, rs864309525, rs2527999747, rs2527999623, rs2528009199, rs2527832569, rs794728602, rs2527973836, rs28933090, rs878855234, rs879253932, rs267607590, rs879254081, rs886043109, rs2527935805, rs2528019483, rs2527973813, rs769210828, rs2528013396, rs2527830705, rs1572332164, rs1650974818, rs886042239, rs794728595, rs61578124, rs2527997008, rs2527829950, rs2527936871, rs2527989011, rs2528012830, rs2527978799, rs2527997071, rs2527966691, rs397517906, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs58048078, rs121912496, rs60458016, rs2527833719, rs2528007533, rs794728609, rs2527832764, rs2527834799, rs2527974074, rs2527974791, rs2527980984, rs2527829451, rs2527974458, rs2527992407, rs2527833201, rs2527973173, rs2527974360, rs1572332235, rs1215331296, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs60290646, rs1085307888, rs1131691980, rs1553265433, rs780302064, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553265455, rs1553266024, rs267607588, rs386134243, rs267607578, rs1553265755, rs57730570, rs1553261855, rs1553261982, rs1553264593, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553265606, rs1553265924, rs1553265736, rs1340894696, rs1558133157, rs1558115754, rs1558115970, rs267607561, rs1228406418, rs1558133435, rs56793579, rs397517888, rs397517889, rs57508089, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs56816490, rs397517915, rs267607554, rs869125101, rs267607629, rs1572364243, rs1572331707, rs57983345, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1572359505, rs113610699, rs1365042239, rs1572359848, rs267607622, rs61295588, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607545, rs267607620, rs267607618, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs863225270, rs1572366216, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs267607640, rs1651598289, rs1651341099, rs1649709575, rs1651580090, rs1649695841, rs1649696391, rs1649719689, rs1649727816, rs1651348222, rs1651401067, rs267607603, rs267607559, rs1651466808, rs1651564707, rs267607639, rs1649721643, rs1649729767	RCV001326041 RCV001379195 RCV001377378 RCV001390690 RCV001384798 RCV001387324 RCV001384525 RCV001382795 RCV001381102 RCV001381551 RCV003745081 RCV001381143 RCV001381956 RCV001390345 RCV001380635 RCV001386995 RCV001385589 RCV001390362 RCV001384666 RCV001388734 RCV002541204 RCV002542701 RCV001919151 RCV001870422 RCV001892814 RCV001959700 RCV001894365 RCV001881619 RCV001975882 RCV001905256 RCV001953733 RCV001942505 RCV001994759 RCV001993153 RCV001976882 RCV002002508 RCV001972424 RCV001968762 RCV001949326 RCV001956044 RCV001949332 RCV001972552 RCV001949620 RCV001952837 RCV001962574 RCV001850165 RCV001850150 RCV003091152 RCV003061524 RCV003084848 RCV002664185 RCV002648207 RCV003104339 RCV000801276 RCV002515313 RCV003765123 RCV000689313 RCV001852313 RCV005089908 RCV000806148 RCV001382584 RCV000229718 RCV001390668 RCV001852314 RCV002650630 RCV002801487 RCV002806963 RCV002825231 RCV002814720 RCV002846766 RCV002829524 RCV002835311 RCV002852340 RCV002958219 RCV002999958 RCV003003137 RCV003019110 RCV003030763 RCV000809807 RCV003032331 RCV003024162 RCV003043624 RCV003063750 RCV003066344 RCV003056175 RCV000225805 RCV000230197 RCV001235427 RCV001857811 RCV002518441 RCV000809047 RCV003581919 RCV003582240 RCV003582417 RCV003582339 RCV003582582 RCV003581173 RCV003581421 RCV003581422 RCV003581424 RCV003581427 RCV003581428 RCV003582949 RCV003582950 RCV003582913 RCV003582971 RCV003582799 RCV003583137 RCV003583004 RCV003583119 RCV003582067 RCV003745626 RCV000472112 RCV000700159 RCV000794743 RCV003581565 RCV001387326 RCV001235764 RCV001851878 RCV000547164 RCV000806737 RCV000687241 RCV000686691 RCV005089263 RCV000814531 RCV000470514 RCV003744060 RCV003744295 RCV003744235 RCV003744287 RCV003744207 RCV003744364 RCV003744334 RCV003744448 RCV003744526 RCV003743089 RCV003743092 RCV003743200 RCV003743219 RCV003743243 RCV003743314 RCV003838514 RCV000457713 RCV000460325 RCV000458536 RCV000467141 RCV000816556 RCV003743751 RCV005091051 RCV001382395 RCV000697810 RCV000529491 RCV000549843 RCV000552796 RCV000540642 RCV000532201 RCV000525920 RCV000552554 RCV000546102 RCV000653872 RCV000653926 RCV001231259 RCV003581698 RCV001070590 RCV000653903 RCV000653934 RCV000653933 RCV000653919 RCV000653857 RCV000653920 RCV000653874 RCV000653870 RCV000653953 RCV001384174 RCV000704281 RCV000706188 RCV000688289 RCV000695793 RCV000706257 RCV000695532 RCV000705726 RCV000691484 RCV000805993 RCV000469099 RCV000468865 RCV000476399 RCV000462793 RCV000703206 RCV001852841 RCV002513582 RCV000653912 RCV000464494 RCV000653900 RCV000818791 RCV003581569 RCV001216146 RCV003581570 RCV002513583 RCV000560270 RCV001069384 RCV000686618 RCV000797832 RCV002535769 RCV005092364 RCV000793718 RCV000812291 RCV000804081 RCV000800232 RCV000811094 RCV000805149 RCV000800239 RCV000803599 RCV000812458 RCV000801706 RCV000823653 RCV000804745 RCV000804440 RCV000793293 RCV000821778 RCV000807553 RCV000800997 RCV005208690 RCV001068018 RCV001382394 RCV000653911 RCV001231384 RCV000233611 RCV001063774 RCV001218431 RCV001036248 RCV001237945 RCV002513736 RCV003581572 RCV000557302 RCV000818990 RCV000230676 RCV001390100 RCV001248144 RCV000705578 RCV002513737 RCV003581573 RCV002514281 RCV000465598 RCV002513738 RCV000697969 RCV001210226 RCV001045262 RCV000472329 RCV000693979 RCV001854174 RCV000823221 RCV000230467 RCV001051802 RCV000457442 RCV000462640 RCV001387325 RCV001854176 RCV001387327 RCV000556738 RCV001231297 RCV000535082 RCV000653887 RCV002513739 RCV001221904 RCV005089470 RCV001038356 RCV001052813 RCV001854177 RCV001048135 RCV001049614 RCV000548477 RCV002513740 RCV000477527 RCV000653924 RCV001234965 RCV000463447 RCV001854178 RCV000459386 RCV002513742 RCV003581578 RCV005092985 RCV001862755 RCV001044761 RCV001071612 RCV001044424 RCV001044702 RCV001065501 RCV001048954 RCV001049778 RCV003117843 RCV001214508 RCV001220492 RCV001207729 RCV001208820 RCV001204509 RCV001211199 RCV001212067 RCV001208397 RCV001206410 RCV001210900 RCV001213240 RCV001232305 RCV001232733 RCV001237127 RCV001236829 RCV001238528 RCV001247423 RCV001307670	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2B1	Likely pathogenic; Pathogenic	rs397517889, rs59332535	RCV003236576 RCV000662104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conduction system disorder	Likely pathogenic	rs869025458	RCV000208251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital muscular dystrophy	Likely pathogenic; Pathogenic	rs794728595, rs61444459, rs59332535	RCV004527517 RCV004018989 RCV004018991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital muscular dystrophy due to LMNA mutation	Likely pathogenic; Pathogenic	rs267607627, rs267607632, rs864309525, rs2527830691, rs58932704, rs61672878, rs58912633, rs121912495, rs121912496, rs60458016, rs2527937180, rs1553261891, rs267607600, rs397517889, rs57629361, rs60872029, rs863225270, rs1651580090	RCV005254717 RCV000199480 RCV000202605 RCV003326722 RCV003313922 RCV005859465 RCV000015604 RCV000015620 RCV000015621 RCV000015623 RCV003988726 RCV000785916 RCV000030147 RCV004546422 RCV003448256 RCV003483458 RCV000015625 RCV000991275 RCV003313994	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1A	Likely pathogenic; Pathogenic	rs59301204, rs2102883099, rs2102896324, rs2527972277, rs794728593, rs794728594, rs794728613, rs2527973222, rs1057515421, rs730882262, rs2527980043, rs2527972496, rs2528018977, rs58932704, rs28928900, rs28933091, rs28933092, rs56771886, rs61672878, rs28933093, rs56699480, rs2527832046, rs56984562, rs1553265739, rs386134243, rs267607578, rs794728598, rs1553265180, rs58362413, rs57730570, rs1553265736, rs56793579, rs397517889, rs57508089, rs61726475, rs61195471, rs60682848, rs56816490, rs1165819867, rs1553261891, rs267607622, rs61295588, rs267607617, rs267607592, rs267607581, rs61444459, rs57077886, rs61661343, rs267607570, rs267607589, rs59026483, rs267607571, rs57045855, rs80356807, rs58327533, rs59332535, rs60578328, rs267607591, rs59684335, rs1572370360, rs863225270	RCV001775173 RCV005868503 RCV002052057 RCV002288283 RCV001199263 RCV004786501 RCV001775092 RCV005869914 RCV000408652 RCV000500335 RCV003228574 RCV003319247 RCV003315126 RCV001095717 RCV000015566 RCV000015572 RCV000015573 RCV000015581 RCV003319170 RCV000015598 RCV004698335 RCV006249908 RCV000022641 RCV000502219 RCV001196390 RCV000154177 RCV001594399 RCV000623152 RCV000622793 RCV006252381 RCV000677300 RCV005870798 RCV000592134 RCV001775074 RCV000041325 RCV004786316 RCV000055999 RCV000056001 RCV001775075 RCV000785172 RCV004789213 RCV000984808 RCV000056000 RCV003886373 RCV001196083 RCV000503283 RCV001262710 RCV000015599 RCV001258042 RCV000503619 RCV004786334 RCV005862962 RCV003447483 RCV003152678 RCV001029824 RCV005001985 RCV000496185 RCV005621866 RCV003227631 RCV000502542 RCV002249095 RCV000991275	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1S	Pathogenic	rs59026483, rs59684335	RCV000491585 RCV000490978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Pathogenic	rs28928903, rs58922911	RCV000015600 RCV000015627	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Emery-Dreifuss muscular dystrophy	Pathogenic	rs60458016	RCV001420791	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Pathogenic; Likely pathogenic	rs2528011998, rs267607600, rs2527991951, rs267607632, rs886043109, rs61046466, rs58932704, rs57520892, rs60934003, rs56771886, rs61672878, rs60864230, rs58048078, rs56699480, rs60458016, rs1553265761, rs1553265999, rs397517889, rs60682848, rs121912496, rs267607545, rs57983345, rs267607598, rs57629361, rs267607539, rs61444459, rs267607540, rs57207746, rs58327533, rs59332535	RCV002466281 RCV002281663 RCV002288307 RCV000199480 RCV004577329 RCV000015564 RCV000015565 RCV000015569 RCV000015571 RCV000681609 RCV000681569 RCV000015602 RCV000015605 RCV000015609 RCV000015622 RCV002281642 RCV000578339 RCV004546422 RCV000194831 RCV005638410 RCV004819190 RCV005252725 RCV005867842 RCV000201062 RCV000015589 RCV005252726 RCV000015588 RCV000201054 RCV005409613 RCV000201012	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial partial lipodystrophy	Likely pathogenic; Pathogenic	rs57920071	RCV001248961	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial partial lipodystrophy, Dunnigan type	Likely pathogenic; Pathogenic	rs2102901069, rs28928900, rs57520892, rs60864230, rs57920071, rs61282106, rs61214927, rs267607555, rs59981161, rs57629361, rs56793579, rs57077886	RCV001706860 RCV000015567 RCV000015570 RCV000015577 RCV000015579 RCV000015584 RCV000015615 RCV000500548 RCV000193901 RCV000499741 RCV000503031 RCV000502816	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heart-hand syndrome, Slovenian type	Likely pathogenic; Pathogenic	rs386134243, rs267607582, rs267607559	RCV000721960 RCV000015618 RCV004767053	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs113610699	RCV005902022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hutchinson-Gilford progeria syndrome, atypical	Pathogenic; Likely pathogenic	rs797044487, rs797044488, rs79907212, rs60310264	RCV000190822 RCV000190823 RCV000201431 RCV000015596	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hutchinson-Gilford progeria syndrome, childhood-onset	Pathogenic	rs730882262, rs60864230, rs60652225	RCV000162192 RCV000015578 RCV000015601	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hutchinson-Gilford syndrome	Likely pathogenic; Pathogenic	rs2102817930, rs397517909, rs797044487, rs797044488, rs61726475, rs58596362, rs61064130, rs60310264, rs59886214, rs57629361, rs267607547, rs61444459, rs113436208, rs267607591	RCV001754577 RCV002271733 RCV000192015 RCV000192020 RCV003314200 RCV000015593 RCV000015595 RCV000192009 RCV000015611 RCV000986432 RCV000192012 RCV001836636 RCV000015607 RCV005411317	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 1	Likely pathogenic; Pathogenic	rs1057515421	RCV001256761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laminopathy	Likely pathogenic; Pathogenic	rs876657649, rs386134243, rs56984562, rs121912496, rs56816490, rs267607555	RCV000223064 RCV000844672 RCV004786315 RCV000041362 RCV006249573 RCV004786332	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction	Likely pathogenic; Pathogenic	rs386134243	RCV000845456	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscular dystrophy	Likely pathogenic	rs1131691263	RCV005625638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Likely pathogenic; Pathogenic	rs57077886, rs267607591	RCV000755005 RCV000146262	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LMNA-associated condition	Likely pathogenic	rs1572363509	RCV000850629	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LMNA-related disorder	Likely pathogenic; Pathogenic	rs57920071, rs121912496, rs386134243, rs61195471, rs56816490, rs267607546, rs57983345, rs267607581, rs61444459, rs59026483	RCV004532362 RCV005229797 RCV004532421 RCV004724769 RCV004541210 RCV005646809 RCV004545742 RCV004537257 RCV003335086 RCV004528262	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome	Likely pathogenic; Pathogenic	rs28933093	RCV003318333	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibuloacral dysplasia with type A lipodystrophy	Pathogenic	rs483352811, rs56673169, rs121912494	RCV000087081 RCV000015603 RCV000015619	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs267607640	RCV005912494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Likely pathogenic; Pathogenic	rs267607555	RCV000754811	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Likely pathogenic; Pathogenic	rs58932704, rs61672878, rs60458016, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs267607644, rs267607634, rs59332535	RCV000500734 RCV000503996 RCV000502108 RCV000501769 RCV000503745 RCV000500127 RCV000503663 RCV000501231 RCV000500844 RCV000499410 RCV000504480 RCV000501991	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuromuscular disease	Likely pathogenic; Pathogenic	rs57508089, rs267607592	RCV000041309 RCV000150954	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal dominant	Pathogenic	rs267607623	RCV000790003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Pathogenic	rs267607588	RCV005898453	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs58389804, rs111569862, rs267607577, rs794728597, rs794728606, rs794728593, rs59564495, rs794728589, rs876657650, rs878855234, rs61046466, rs57520892, rs28933091, rs28933092, rs58596362, rs28933093, rs2527832046, rs2527994027, rs386134243, rs267607578, rs1553261855, rs397517887, rs397517888, rs397517889, rs57508089, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs56816490, rs397517915, rs267607554, rs1572358674, rs1572358821, rs1572359848, rs267607555, rs61672878, rs267607618, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571	RCV000143910 RCV000156608 RCV000156173 RCV000208440 RCV003996717 RCV000219229 RCV000208368 RCV000218409 RCV000223332 RCV004806266 RCV000041328 RCV001375641 RCV000211789 RCV000211791 RCV000150957 RCV000211788 RCV003994696 RCV004556980 RCV000030145 RCV000030148 RCV004004113 RCV000041306 RCV000041307 RCV000041308 RCV000041309 RCV000041320 RCV000041321 RCV000211786 RCV000041344 RCV000041350 RCV000041352 RCV000041353 RCV000211790 RCV000211792 RCV000041360 RCV000041364 RCV000041365 RCV000041366 RCV000041369 RCV000041379 RCV000041381 RCV000041382 RCV000789002 RCV000825597 RCV000852406 RCV003996495 RCV003996497 RCV000216125 RCV001257938 RCV005250008 RCV000154514 RCV004017361 RCV000221013 RCV000156060 RCV003996511 RCV003993783 RCV003996512 RCV001449792	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary familial dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs794728605, rs386134243, rs57730570, rs56816490, rs267607554, rs1572332762, rs1572359848, rs28933092	RCV005431531 RCV003492303 RCV000624376 RCV001251293 RCV002265579 RCV000845422 RCV005408015 RCV000624578 RCV004799772	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proximal muscle weakness	Likely pathogenic	rs1651596554	RCV001281579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Restrictive dermopathy 2	Pathogenic	rs58596362, rs113436208	RCV001847608 RCV001847645	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Right ventricular cardiomyopathy	Pathogenic	rs730882262	RCV000162192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sick sinus syndrome	Likely pathogenic	rs2527834624	RCV003447662	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sudden unexplained death	Pathogenic	rs61672878	RCV001089610	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMIAS, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular block	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, GenCC CTD, Disgenet, GenCC CTD, Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATYPICAL WERNER SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive axonal hereditary motor and sensory neuropathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal semi-dominant severe lipodystrophic laminopathy	Conflicting classifications of pathogenicity	ClinVar CTD, Orphanet CTD, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BETHLEM MYOPATHY 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DEFECT, NONSPECIFIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1A	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1D	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Collapse (finding)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FOOT DEFORMITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HAND DEFORMITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SMALL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dehydrated hereditary stomatocytosis 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY KOBBERLING TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY, KOBBERLING TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Family history of sudden cardiac death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary liability to pressure palsies	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 2	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin-resistant diabetes mellitus AND acanthosis nigricans	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lethal tight skin contracture syndrome	Conflicting classifications of pathogenicity; Uncertain risk allele; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, recessive	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOATROPHIC DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules	Conflicting classifications of pathogenicity; Uncertain risk allele; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALOUF SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MANDIBULOACRAL DYSOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysplasia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysplasia with type A lipodystrophy, atypical	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal familial ventricular fibrillation	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Peripheral neuropathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyneuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Relative macrocephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTRICTIVE DERMOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLERODERMA, LOCALIZED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe muscular hypotonia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WERNER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absent eyebrow	Absent eyebrow	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	12145775, 9500556		★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired partial lipodystrophy	Acquired Partial Lipodystrophy	BEFREE	29044029		★☆☆☆☆ Found in Text Mining only
Acro-Osteolysis	Acrosteolysis	BEFREE	16278265, 20631028, 26733286		★☆☆☆☆ Found in Text Mining only
Acro-Osteolysis	Acrosteolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	29526028		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15867203, 2232854		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26732077, 28977728, 7505746, 8521872, 8621584		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	19381893		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28806747		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	10951489, 28570007		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	BEFREE	29205352		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	22015727		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25691058	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	2232854		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	15867203		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	25327215, 27539898		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	19128803		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	19128803		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10739751, 15053843, 18848371, 32155994, 34356086	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30781626, 37884611	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	21903150		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33661429	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	21439080, 21627864	Associate	★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary artery	Anomalous Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin deficiency	Pubtator	18480576	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	33626194, 35524481, 38255001	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	12854972, 16386954, 17599607, 19638735, 22281253, 23349452, 27884249, 29095976, 29628476, 30078822, 31060954, 31316208, 31383942, 31514951, 31788659, 31847799, 33502018, 34360639, 34958940, 35500377, 35772917, 36095892, 36352512, 37639473, 38055534, 38467355, 39940784, 40689545	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	22199124, 25837155, 26620845, 27405450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	25837155, 26620845, 27199538, 31319917, 35526016	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	38404225	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	ORPHANET_DG	22199124, 23736219		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	15205220, 15756215, 16117820, 23659872, 23846499, 25667091, 26724531, 29438482, 30227133		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27835913	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	16278265		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	25954030	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	37345209	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10843151, 15205220, 15756215, 16117820, 23659872, 23846499, 25667091, 26724531, 29438482, 30227133		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	22148005, 23846499, 33482093	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	12821245, 18339564, 19427440, 22413764, 27373676, 30488537		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	LHGDN	12920062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	19427440, 20041886, 23073275, 33887581, 34106654, 35772917, 36095892, 36253810, 36548481, 40689545	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Flutter	Atrial flutter	Pubtator	29095976, 33502018	Associate	★☆☆☆☆ Found in Text Mining only
Atrial myxoma familial	Atrial myxoma	Pubtator	28874324	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Standstill	Atrial standstill	Pubtator	11897440, 20041886	Associate	★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	CTD_human_DG	10580070		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrioventricular Block	Atrioventricular block	BEFREE	11897440, 12898247, 19638735, 24058181, 27884249, 29095976		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrioventricular Block	Atrioventricular block	LHGDN	11897440		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrioventricular Block	Atrioventricular block	Pubtator	11897440, 18926329, 19638735, 20413395, 25886484, 27884249, 28874324, 28878402, 29095976, 30221713, 31060954, 31118417, 31788659, 31847799, 32666643, 32962641, 34106654, 34806324, 35205214, 35470684, 36253810, 40689545	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrioventricular Block	Atrioventricular block	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	18256394	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30589304		★☆☆☆☆ Found in Text Mining only
Atypical Werner syndrome	Werner Syndrome	BEFREE	12927431, 16174718, 19095983, 19270485, 19875478, 24861648, 25327215, 26122271, 27265359, 27539898, 28423660, 29267953, 31270292, 31378009, 31807803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Werner syndrome	Werner Syndrome	ORPHANET_DG	12927431, 19270485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Werner syndrome	Werner Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28193790		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16951681		★☆☆☆☆ Found in Text Mining only
Autosomal dominant Emery-Dreifuss muscular dystrophy	Emery-Dreifuss Muscular Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	BEFREE	10080180, 10580070, 10587585, 10739751, 10838245, 10908904, 10939567, 11102973, 11532159, 11930270, 12032588, 15548545, 15639119, 16478798, 16825283, 17107595, 17329105, 17467691, 17493893, 18396274, 18816602, 19124654, 19589617, 20576434, 21063730, 25274841, 25343322, 28531892		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	CLINVAR_DG	10739764, 10939567, 11503164, 11792809, 11901143, 12032588, 12649505, 14659775, 14684700, 15372542, 15744034, 16772334, 17377071, 1849984, 18551513, 18564364, 19524666, 20498703, 20848652, 20886652, 20980393, 21173262, 21632249, 22883396, 23349452, 23427149, 24642510, 27717888		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG	10814726, 12032588, 30055862		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	GENOMICS_ENGLAND_DG	11799477, 15148145, 18478590, 20186049, 27532257		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	UNIPROT_DG	22431096, 27234031		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy	BEFREE	10739764, 22431096, 23313286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG	10814726, 12032588, 30055862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive Emery-Dreifuss muscular dystrophy	Emery-Dreifuss Muscular Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal semi-dominant severe lipodystrophic laminopathy	Lipodystrophic Laminopathy	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	24285572, 3494689		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	23035061		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	21766182		★☆☆☆☆ Found in Text Mining only
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	19330236, 23035061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	32969603	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	18847334, 29845577, 32413188	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	29854317		★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	25324471	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	29845577, 37448194	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	25324471	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	18611980		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	34246298	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bradyarrhythmia (disorder)	Bradyarrhythmia	CLINVAR_DG	27717888		★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	26620845, 35772917	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	26804704		★☆☆☆☆ Found in Text Mining only
Branchiootic syndrome	Branchiootic syndrome	Pubtator	30221713	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17389037, 17550303, 17914245, 18720457, 20409316, 21627864, 24293108, 26732077, 27557380, 28765906, 30610489, 31060593, 31063527, 31311496		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10517909, 18612243, 21627864, 24293108, 31578772, 32570693, 35896617, 36552797	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26175118	Inhibit	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	29845577	Associate	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	30612914		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30134855, 36405011, 36899893, 37395027	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid tumor of lung	Carcinoid Tumor Of Lung	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	30134855, 36357104	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	8621584		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	11207047	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35977926, 36405011	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	1985776, 8014480		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	23146383		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37749865	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11207047		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30384980		★☆☆☆☆ Found in Text Mining only
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	Cardiac conduction disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiac Conduction System Disease	Cardiac conduction disease	Pubtator	10580070, 10739751, 12821245, 12854972, 15219508, 16386954, 18585512, 19427440, 26165385, 33626194, 34958940	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	9537420		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	34360639	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10908904, 12015247, 12783988, 15539782, 15551023, 16630578, 16825283, 18066751, 18927124, 19375354, 19882644, 19944109, 20041886, 21346069, 21689390, 21810905, 21818408, 22068161, 22293021, 22691392, 23044536, 23048029, 23324461, 23582089, 23622360, 24001739, 25837155, 25886484, 26323789, 26620845, 26634508, 27082122, 27131347, 27265359, 27405450, 27506821, 27884249, 27966284, 28069793, 28125396, 28365402, 28686329, 28754655, 29095976, 29104234, 29197877, 29633897, 29741282, 29878125, 29893868, 29947763, 29982513, 30053027, 30319452, 30342008, 30871351, 30995779, 31009944, 31118417, 31155932, 31311496, 31316208, 31383942, 31430335, 31476771, 31773301, 31794718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	12015247, 12783988, 18606848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG	12015247, 12647844, 20041886, 23183350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	17599607, 20041886, 21311568, 21689390, 23324461, 23873483, 26165385, 26634508, 27421120, 27884249, 28679633, 28686329, 28754655, 28878402, 29047356, 29197877, 29741282, 29770364, 30764827, 31118417, 31311496, 31383942, 31476771, 31957533, 32413188, 32698886, 32727917, 32846814, 33260757, 33478249, 33953703, 34773379, 34958940, 35205214, 35434999, 35466949, 35526016, 35544052, 35772917, 36548481, 37348923, 37904158, 39940784, 40689545	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	10580070, 10739751, 10974018, 11897440, 12628721, 12821245, 12854972, 14675861, 15219508, 16314145, 16386954, 18480576, 18585512, 18926329, 19427440, 20041886, 20127487, 20413395, 21283746, 21689390, 22029807, 22266370, 22281253, 22464770, 23062543, 23073275, 23183350, 23329710, 23349452, 23362510, 23463027, 23582089, 23912926, 24386194, 24718612, 25319090, 25837155, 25873806, 25886484, 26634508, 27182706, 27199538, 27235420, 27421120, 28333919, 28436080, 28754655, 28874324, 29047356, 29095976, 29386531, 29497013, 29628476, 29702688, 29741282, 29770364, 29791652, 30012837, 30221713, 30739589, 30871747, 31060954, 31118417, 31303467, 31311496, 31316208, 31383942, 31514951, 31788659, 31847799, 31983221, 32005173, 32032554, 32041989, 32059175, 32245113, 32616434, 32666643, 32698886, 32727917, 32969603, 33407844, 33529599, 33626194, 34011823, 34029931, 34088019, 34213952, 34246298, 34360639, 34438160, 34498126, 34652067, 35354754, 35500377, 35728000, 35772917, 35976242, 36114020, 36293084, 36362411, 36472615, 36515663, 36718638, 37010012, 37058558, 37217929, 37282787, 37461109, 37535990, 37840136, 37904158, 38055534, 38090549, 38404225, 39273049, 39427442, 40689545	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	25873806	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	28874324, 30871747	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	26199943, 28874324	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	26733286, 29741282	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	10080180, 10580070, 10662742, 10814726, 10908904, 10939567, 11138304, 11503164, 11561226, 11792809, 11792810, 11897440, 12032588, 12714972, 12920062, 14675861, 14684700, 15372542, 15972724, 16156025, 16266469, 16386954, 16407522, 16537768, 16630578, 16715312, 16965317, 16990647, 17334235, 17377071, 17386158, 17987279, 18031519, 18035086, 18337098, 18564364, 18585512, 18606848, 18646565, 18714801, 18795223, 18816602, 18926329, 19167105, 19318026, 19328042, 19638735, 19875404, 19882644, 20155465, 20160190, 20497714, 20576434, 20848652, 21151901, 21315846, 21483645, 21632249, 21689390, 21840938, 22019351, 22177269, 22224630, 22266370, 22464770, 23062543, 23142632, 23183350, 23349452, 23360689, 23427149, 23853504, 23977161, 24001739, 24058181, 24375749, 24503780, 24846508, 24915601, 25525159, 26383716, 27532257, 27585670, 27723096, 27884249, 27886618, 28679633, 28790152, 28798025, 29149195, 29237675, 29382405, 29943882, 8621584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10580070, 10655060, 10662742, 11102973, 11561226, 11709282, 11733221, 11792810, 11897440, 12032588, 12138994, 12486434, 12628721, 12854972, 12898247, 12920062, 14585157, 15140538, 15219508, 15539782, 15551023, 15720451, 16061563, 16247757, 16314145, 16386954, 16630578, 17334235, 17605093, 17987279, 18035086, 18502446, 18585512, 19283854, 19384091, 19427440, 20092787, 20160190, 20413395, 20497714, 20580235, 21689390, 22019351, 22068161, 22224630, 22281253, 22293021, 22413764, 23044536, 23048029, 23064282, 23073275, 23183350, 23455585, 23463027, 23582089, 23631840, 23701190, 23702046, 23793583, 23912926, 23933734, 24386194, 24718612, 24846508, 25837155, 26821845, 27421120, 27457270, 28333919, 28436080, 29628476, 29668927, 29702688, 30008018, 30012837, 30527532, 30696354, 30739589, 30871351, 31316208, 31383942, 31460960, 31668660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	10580070, 15996213, 20019332, 21689390		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	11897440, 12628721, 12673789, 15080529, 15798706, 18035086, 18502446, 18795223, 18926329		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	10580070, 15996213, 20019332, 21689390		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CLINVAR_DG	10580070, 14675861, 15372542, 16061563, 18031519, 18035086, 18564364, 18585512, 18646565, 19167105, 20160190, 21085127, 22177269, 23183350, 24375749, 24503780, 24623722, 27760138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	UNIPROT_DG	10580070, 11561226, 11792809, 11897440, 12486434, 12628721, 12920062, 14675861, 14684700, 15140538, 15219508, 15372542, 16061563, 18606848, 19167105, 20160190, 21846512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10903836, 11102973, 11733221, 11897440, 12628721, 12783988, 12920062, 15140538, 15539782, 15671604, 15720451, 16061563, 16386954, 16981056, 17987279, 18035086, 18502446, 18585512, 18926329, 20092787, 20127487, 21085127, 21283746, 21689390, 21846512, 22177269, 22224630, 23062543, 23073275, 23362510, 23463027, 23582089, 24001739, 24386194, 25837155, 26634508, 27235420, 27457270, 27576561, 27813223, 28844980, 29095976, 29175975, 29386531, 29628476, 29702688, 30012837, 30482687, 30527532, 30696354, 30739589, 31303467, 31316208, 31495264, 31514951, 31668660, 31768884, 31847799		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	GENOMICS_ENGLAND_DG	11799477, 15148145, 20186049, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE	Atrial standstill	BEFREE	19272076		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG	16407522, 16585054, 24503780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	16314145, 33502018	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30227133		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	33414362, 35384599	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	16261260, 18363904, 23077635, 25649378	Associate	★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	29628476, 30078822		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	11799477, 12467734, 14607793, 15324608, 16239243, 17347251, 18549403, 19272076, 19424285, 19657941, 25886484, 27405450		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	14985400		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG	18478590, 25025039		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2B1	Charcot-Marie-Tooth Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease, Type 2B1	Charcot-Marie-Tooth disease	CLINVAR_DG	11799477, 14607793, 17347251, 17536044, 18549403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2B1	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG	11799477, 20186049, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2B1	Charcot-Marie-Tooth disease	UNIPROT_DG	11799477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2B1	Charcot-Marie-Tooth disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	2232854, 8207988		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	9042800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis	Cholangitis	BEFREE	29741464		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	19011997		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	29628476, 30078822		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	12768443, 16262891, 17848409, 19095983, 19842191, 21791255, 23217256, 25324471, 29267953, 30830726, 31807803		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	18848371	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31525963		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26716414, 31613004		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	10517909	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21621406	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18714339, 30218452, 31792356		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18714339, 21621406, 21983087, 26469707, 26563355, 35237889	Associate	★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	29047356, 29197877, 31118417, 31847799, 32962641, 34360639	Associate	★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	12854972, 15720451, 16630578, 19944109, 22224630, 23811080, 25256213, 25837155, 27717888, 29197877, 29628476, 29633897, 30078822, 31118417, 31383942, 31668660, 31787633, 31847799		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	15750600, 17150192, 18796515, 19875478, 32698886	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of breast	Breast aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19922592		★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	24642510, 25256213		★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	GENOMICS_ENGLAND_DG	24642510		★☆☆☆☆ Found in Text Mining only
Congenital Foot Deformity	Congenital deformity of foot	CTD_human_DG	15996213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hand Deformities	Congenital anomaly of the hand	CTD_human_DG	15996213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	23073275		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	BEFREE	17848409, 18554282, 20631028		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	18551513, 19084400, 20837309, 22240398, 22491857, 23622360, 24508248, 24684859, 25274841, 25653289, 27876398, 28125586, 29854317		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy due to LMNA mutation	Congenital muscular dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital musculoskeletal anomalies	Congenital Musculoskeletal Anomalies	BEFREE	27405450		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	16061563, 18926329, 18927124, 20041886, 21810905, 27131347, 28069793, 29432544, 29702688, 29741282, 29947763, 29982513, 30053027, 30130999, 30518714, 31060954, 31395619		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	28182637	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10838246, 16208517		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10838246, 16262891, 29047356		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	22065502, 29047356	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10838246, 11342468, 12524233		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	30612914		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	29845577	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29845577		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	29791652	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa Autosomal Recessive Type IIB	Cutis laxa	Pubtator	18796515	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21471729		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30221713	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	29864786		★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22231515		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	21903150		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	21689390	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	15317753, 15843403, 16297189, 16364671		★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10999845, 11440372, 12075506, 12716787, 15205220, 16357800, 17327460, 19859838, 26662654		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10810087, 12075506, 24002959, 26662654, 28686329, 28874324, 28938416, 29267953, 32012908	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10838246, 10999845, 11440372, 12075506, 12716787, 15205220, 16357800, 17327460, 19859838, 24002959, 26662654		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36418577	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18497734	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11243729, 11342468, 11440372, 12145775, 15205219, 16117820, 16357800, 17327437, 17327460, 17327461, 17994215, 19859838, 20501691, 20621503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	17327461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	16117820		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15867203		★☆☆☆☆ Found in Text Mining only
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	11561226, 12920062, 23793583		★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	23641075, 28360031		★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	22281253		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	10811140, 30619463		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	18484683, 20815046, 21228925, 22025283, 30619463		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	21915271	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	16174718, 22065502, 31199775		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	31439488		★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	Pubtator	39350328	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	21085127		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	10810087, 24002959, 28874324, 33823916	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	11122771, 11136544, 12145775, 12453919, 12524233, 15205219, 15205220, 16117820		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	16261260		★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysphoric mood	Pubtator	29845577	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	18364375		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	BEFREE	26670690		★☆☆☆☆ Found in Text Mining only
Emery-Dreifuss Muscular Dystrophy 3	Emery-Dreifuss Muscular Dystrophy	GENOMICS_ENGLAND_DG	20186049, 27532257		★☆☆☆☆ Found in Text Mining only
Emery-Dreifuss Muscular Dystrophy 3	Emery-Dreifuss Muscular Dystrophy	UNIPROT_DG	22431096, 27234031		★☆☆☆☆ Found in Text Mining only
Emery-Dreifuss Muscular Dystrophy 3	Emery-Dreifuss Muscular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Emery-Dreifuss Muscular Dystrophy 3	Emery-Dreifuss Muscular Dystrophy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27974701		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27974701	Associate	★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	25954030	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	19258295		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28333919		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	10838246, 11561226, 11781950, 11899244, 12486434, 12854972, 15140538, 15219508, 17334235, 18585512, 18795223, 19282183, 19384091, 20160190, 20307303, 20497714, 21085127, 21462202, 21482412, 23362510, 23793583, 25498755, 27235420, 29095976, 30008018, 31495264		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	12854972, 15219508, 18585512, 19638735, 20307303, 23362510, 25319090, 26199943, 27235420, 29095976, 30221713, 31788659, 32962641, 33887581, 34498126, 36526864	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	CLINVAR_DG	30402260, 30765282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Dilated Cardiomyopathy With Conduction Defect	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	14516935, 19169477, 20621503, 20631028, 21865368, 26821845, 28686329, 29267953, 31708526		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	10587585, 10739751, 10838246, 10999791, 10999845, 11015599, 11073359, 11078466, 11102973, 11231979, 11243729, 11286783, 11342468, 11344241, 11393540, 11397881, 11501948, 11525883, 11709282, 11788685, 11792810, 11929849, 12015247, 12075506, 12145775, 12196663, 12453919, 12524233, 12669268, 12716787, 12729796, 12832318, 12844477, 14510863, 15205220, 15531525, 15748902, 15890790, 16181372, 16246048, 16320084, 16357800, 16415042, 17274801, 17299075, 17327437, 17327460, 17374881, 17466974, 17711925, 18031308, 18041775, 18364375, 18728124, 19011997, 19162222, 19201734, 19859838, 20373986, 20621503, 20625965, 21865368, 21883346, 21993218, 22700598, 23243001, 23313286, 23846499, 24002959, 24080738, 24152769, 24485160, 25524705, 26662654, 26756202, 27026223, 27841971, 28641778, 29044029, 29438482, 30165155, 30418556, 30694351, 31194872, 31836692		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial partial lipodystrophy	Partial Lipodystrophy	LHGDN	12015247, 12524233, 14597414, 15298354, 18041775		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial partial lipodystrophy	Partial Lipodystrophy	CTD_human_DG	12844477, 14510863, 16241930, 19793595		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial partial lipodystrophy	Partial Lipodystrophy	GENOMICS_ENGLAND_DG	24080738		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial partial lipodystrophy, Dunnigan type	Partial Lipodystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
	Partial Lipodystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 1	Partial Lipodystrophy	BEFREE	12766116		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 1	Partial Lipodystrophy	CTD_human_DG	12844477, 14510863, 16241930, 19793595		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 1	Partial Lipodystrophy	ORPHANET_DG	15298354, 18041775		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	UNIPROT_DG	10587585, 10655060, 10739751, 11792809, 12015247, 12196663, 12629077, 15372542, 17250669, 19220582, 24485160		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	ORPHANET_DG	10587585, 10739751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	BEFREE	10843151, 16246048, 16636128, 18805829, 20130076, 21883346, 21989830, 23846499, 24108105, 25524705, 27778252, 27845687, 28408391, 28872940, 29108996, 30131000, 30165155, 30296183, 30954027, 31375660, 31794942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	GENOMICS_ENGLAND_DG	11799477, 20186049, 24002959, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	CTD_human_DG	12844477, 14510863, 16241930, 19793595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	CLINVAR_DG	17711925, 21346069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	CTD_human_DG	12844477, 14510863, 16241930, 19793595		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23831462		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	19270485, 24002959, 35440056	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24002959		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	19740438, 30551691		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	24080738		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	GENOMICS_ENGLAND_DG	24080738		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	24080738		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	24108105		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	24642510, 25256213		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	19330236		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	10517909	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	36357104	Associate	★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	11876765		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	11876765	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26490262		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40305992	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26490262		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	18363904	Stimulate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	17352743, 18256394, 22065502	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28182637, 32962641	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	28944914, 30221713	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Conductive	Conductive hearing loss	Pubtator	18256394	Associate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	11525883, 29057633, 31668660		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	CTD_human_DG	15996213		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35286896	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	11897440, 16601451, 17136397, 20497714, 21810905, 22071332, 27884249, 28790152, 29149195, 29175975, 29929425, 30008018, 30287275		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	17136397		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20383812, 21179469, 23362510, 23582089, 23912926, 24349489, 25886484, 26165385, 27884249, 29047356, 29095976, 29149195, 29791652, 30221713, 30287851, 31233093, 31316208, 31393705, 31476771, 31847799, 32062135, 32529721, 32666643, 32698886, 32727917, 32846814, 33170376, 33626194, 33824984, 34585335, 34806324, 34958940, 35205305, 35354754, 35384599, 35772917, 36718638, 37058558, 37348923, 37572165, 40689545	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	16061563, 18926329, 18927124, 21810905, 24642510, 27131347, 28069793, 29432544, 29702688, 29741282, 29947763, 29982513, 30053027, 30130999, 30518714, 31060954, 31395619		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	16386954, 17599607, 18926329, 20041886, 22281253, 23183350, 26165385, 26199943, 27199538, 27585670, 27884249, 28878402, 29047356, 29702688, 29741282, 31060954, 31395619, 31788659, 31847799, 33482093, 34029931, 35205214, 35500377, 35526016, 35772917, 36293084, 37010012, 37840136, 38055534, 40689545	Associate	★☆☆☆☆ Found in Text Mining only
Heart-hand syndrome, Slovenian type	Heart-Hand Syndrome	ORPHANET_DG	18611980		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart-hand syndrome, Slovenian type	Heart-Hand Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart-hand syndrome, Slovenian type	Heart-Hand Syndrome	GENOMICS_ENGLAND_DG	20186049, 27532257		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart-hand syndrome, Slovenian type	Heart-Hand Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart-hand syndrome, Slovenian type	Heart-Hand Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	15867203, 16697219		★☆☆☆☆ Found in Text Mining only
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytic Lymphohistiocytosis	BEFREE	28214269		★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	29267953	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CLINVAR_DG	10080180, 10580070, 10587585, 10612827, 10739764, 10814726, 10939567, 11503164, 11561226, 11792809, 11792810, 11897440, 11973618, 12015247, 12075506, 12467752, 12628721, 12629077, 12673789, 12714972, 12783988, 12927431, 14607793, 14615128, 14627682, 14675861, 14684700, 14749366, 15053843, 15219508, 15372542, 15678000, 15724423, 15982412, 16061563, 16174718, 16218190, 16386954, 16537768, 16630578, 17347251, 17377071, 17605093, 17711925, 17987279, 18031519, 18035086, 1839274, 18396274, 18549403, 18551513, 18551515, 18564364, 18585512, 18604166, 18606848, 18646565, 18795223, 18926329, 19084400, 19172989, 19201734, 19328042, 19446900, 19524666, 19638735, 19842191, 19875404, 19875478, 19933576, 20130076, 20155465, 20160190, 20497714, 20627339, 20662858, 20848652, 20886652, 20980393, 21151901, 21173262, 21520333, 21632249, 21653823, 21840938, 21846512, 21875900, 22071332, 22090424, 22177269, 22186027, 22199124, 22224630, 22464770, 22491857, 22700598, 2280636, 22883396, 22893709, 23062543, 23183350, 23313286, 23349452, 23362510, 23427149, 23582089, 23701190, 23702046, 23804595, 23969228, 24080738, 24237251, 24305605, 24375749, 24386194, 24503780, 24508248, 24623722, 24656463, 24806962, 24861648, 24915601, 24990833, 25163546, 25324471, 25469153, 25567453, 25823658, 25886484, 25996830, 26034236, 26084686, 26098624, 26199943, 26443318, 26899768, 27220833, 27421120, 27506821, 27532257, 27723096, 27876398, 28416588, 28620495, 28641778, 28679633, 28878402, 29095976, 29211919, 29237675, 29367541, 29432544, 29770364, 29943882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	19657941	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytoid hemangioma	Epithelioid hemangioma	BEFREE	26135557		★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	18611980		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	24070868		★☆☆☆☆ Found in Text Mining only
Hutchinson-Gilford progeria syndrome	Hutchinson-Gilford Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hydrops of placenta	Hydropic placenta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	35440056	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	CLINVAR_DG	10587585, 10655060, 10739751, 10868844, 10999845, 15219508, 16364671, 16415042, 19201734, 2007407, 20074070, 2270059, 22700598, 23313286, 23853504, 24080738		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	10810087, 11122771, 11136544, 11342468, 15636422		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	10810087	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	34360639	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	10810087, 24002959, 28686329, 28784648	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10810087, 24002959, 31495066		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	28686329, 29267953, 32012908	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28874324		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28874324		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	23804595	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26181205, 35977926	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	36848480	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	30837028		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29458172		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24684859		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	24040437		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	16823856		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31372995		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	29579338		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	12075506, 16262891, 20130076, 21945321, 24002959, 26662654	Associate	★☆☆☆☆ Found in Text Mining only
Insulin resistance - type A	Insulin resistance syndrome	BEFREE	15919811		★☆☆☆☆ Found in Text Mining only
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	BEFREE	12145775		★☆☆☆☆ Found in Text Mining only
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	30536301		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	30536301	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	36357104	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	17914245, 19740438, 19922592, 20533549, 24786829, 25109497, 28173783, 28765906, 31062495, 31642210, 9042800		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	GWASCAT_DG	30251476		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	31199775		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31383942		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31383942	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	23349452, 27884249, 30078822, 31303467, 37639473, 38090549	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	19011997		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	17442430, 23582089		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	15219508		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	27884249, 28069793		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	21179469	Associate	★☆☆☆☆ Found in Text Mining only
Lethal tight skin contracture syndrome (disorder)	Lethal tight skin contracture syndrome	GENOMICS_ENGLAND_DG	11799477, 20186049, 27532257		★☆☆☆☆ Found in Text Mining only
Lethal tight skin contracture syndrome (disorder)	Lethal tight skin contracture syndrome	ORPHANET_DG	18470519, 19020898		★☆☆☆☆ Found in Text Mining only
Lethal tight skin contracture syndrome (disorder)	Lethal tight skin contracture syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lethal tight skin contracture syndrome (disorder)	Lethal tight skin contracture syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15867203, 24067370, 28422997		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Accelerated Phase	Myeloid leukemia	Pubtator	35269487, 39408822	Associate	★☆☆☆☆ Found in Text Mining only
Limb-girdle muscle atrophy	Limb-girdle muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Linear Scleroderma	Linear Scleroderma	CTD_human_DG	15726408		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	11078466, 19169477, 20373986, 21945321, 30165155		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	10810087, 10999845, 11078466, 11286783, 11733221, 12030893, 12196663, 12788894, 12844477, 15026149, 15596010, 15998779, 16184025, 16246048, 16278265, 16584978, 17612587, 17711925, 18018758, 18031308, 18077842, 18230615, 18364375, 18538321, 19169477, 19201734, 19270485, 19727665, 19768759, 20097706, 20373986, 20980393, 21346069, 21945321, 22103520, 22700598, 23197810, 23313286, 24384368, 25256213, 25324471, 25961135, 26724531, 27841971, 27845687, 28125586, 28686329, 28751304, 28993984, 29040816, 29578370, 29750601, 30020498, 30131000, 30165155, 30287275, 31375660		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	Pubtator	10810087, 12075506, 15596010, 17150192, 17870066, 19270485, 20041886, 21993218, 23197810, 23846499, 25324471, 27585670, 27841971, 28686329, 28751304, 29267953, 29791652, 30020498, 30296183, 31857427, 32245113, 32413188, 34680903, 35011612, 35384599, 39940784	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	LHGDN	12138353, 12196663, 17711925, 17893350, 18077842		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy Congenital Generalized	Lipodystrophy	Pubtator	28686329	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	10739751, 10810087, 12075506, 12854972, 16826530, 17274801, 17327461, 18076675, 19220582, 19574635, 19622949, 20041886, 20130076, 21479595, 21993218, 22326558, 22989829, 23846499, 24002959, 25885670, 26662654, 26976018, 27841971, 28199729, 29791652, 30296183, 31194872, 31375660, 31794942, 31857427, 32193531, 32213461, 33502018, 33953703, 34865644, 35384599, 35440056, 35920656, 35955791, 39427442, 40130571	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy Partial Acquired	Lipodystrophy	Pubtator	16826530	Associate	★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	28938416	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29772801, 30897324		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	23641075		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29772801		★☆☆☆☆ Found in Text Mining only
LMNA-related cardiocutaneous progeria syndrome	Cardiocutaneous Progeria Syndrome	ORPHANET_DG	23666920		★☆☆☆☆ Found in Text Mining only
LMNA-related cardiocutaneous progeria syndrome	Cardiocutaneous Progeria Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Localized scleroderma	Scleroderma	CTD_human_DG	15726408		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	23582089, 35526016	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT Syndrome 1	Long QT Syndrome	BEFREE	19938095		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26216294, 35149769	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10517909, 36012358	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27835913	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1379677		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	17565385		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26469707	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15867203, 28422997		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	28422997	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	2232854		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	2232854		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	30134855		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17389037, 17550303, 17914245, 18720457, 20409316, 21627864, 24293108, 26732077, 27557380, 28765906, 30610489, 31060593, 31063527, 31311496		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27974701		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	1985776, 8014480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30384980		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10951489, 18383208, 22025297, 22949099, 24018805, 25154392, 26181205, 26732077, 28240424, 28919182, 28977728, 29094384, 29295717, 29665450, 30585372, 30900303, 31018850, 31111513, 31710002		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	16865251		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10811140, 10951489, 19740438, 21627864, 22068161, 22795640, 24786082, 26732077, 27397692, 28342988, 29094384, 29405587, 30149228, 30218452, 30309670, 30610489, 30982228, 31365279, 31603727, 31734052		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26716414, 31613004		★☆☆☆☆ Found in Text Mining only
Malouf syndrome	Malouf Syndrome	UNIPROT_DG	12927431, 17150192, 19283854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malouf syndrome	Malouf Syndrome	BEFREE	19283854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malouf syndrome	Malouf Syndrome	ORPHANET_DG	19283854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malouf syndrome	Malouf Syndrome	GENOMICS_ENGLAND_DG	20186049, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malouf syndrome	Malouf Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malouf syndrome	Malouf Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mammary Ductal Carcinoma	Marfan Syndrome	BEFREE	10811140		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26732077, 29378184		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	GENOMICS_ENGLAND_DG	11799477, 20186049, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	UNIPROT_DG	12075506, 15998779, 16278265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	ORPHANET_DG	12075506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	BEFREE	12788894, 15998779, 16278265, 16364671, 17152860, 17374881, 17848409, 18348272, 18435794, 19875478, 20550970, 20631028, 20814950, 22103512, 22549407, 25324471, 29208544, 29845577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	CTD_human_DG	12788894, 17848409, 19764019		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysplasia with type A lipodystrophy	Mandibuloacral dysplasia	Pubtator	12075506, 12854972, 15473259, 16046620, 17150192, 17274801, 18435794, 18554282, 18796515, 19875478, 20814950, 21419220, 22549407, 22706480, 23804595, 25286833, 25324471, 29267953, 34680903, 36927562, 38050983	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibuloacral dysplasia with type A lipodystrophy	Mandibuloacral Dysplasia With Lipodystrophy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibuloacral dysplasia with type B lipodystrophy	Mandibuloacral dysplasia	Pubtator	29794150	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	18720457, 26254781		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	18720457		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32571981	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21599722, 23539603, 24002959, 31833196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic syndrome	Pubtator	29267953	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	19401371, 28751304, 28874324, 29791652, 32012908	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15205219, 16320084, 17327460, 17327461, 17466974, 17711925, 19841875, 20551664, 21724554, 27919367, 28751304, 30694351		★☆☆☆☆ Found in Text Mining only
Microcolon	Microcolon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	18364375		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25996284, 35466949	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	CLINVAR_DG	10587585, 10655060, 10739751, 10868844, 10999845, 15219508, 16364671, 16415042, 19201734, 2007407, 20074070, 2270059, 22700598, 23313286, 23853504, 24080738		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Monogenic Diabetes	BEFREE	19859838		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Morphea	Morphea	CTD_human_DG	15726408		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	20191033, 20815046		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16951681		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	25886484	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10814726, 11102973, 11525883, 11709282, 11733221, 12015247, 12032588, 14967765, 15744034, 15770669, 17605093, 20092787, 20130076, 20225280, 23622360, 23746545, 25256213, 28403181, 29893365, 31430335, 9106535		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	CTD_human_DG	10814726, 12032588, 30055862		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	12032588, 17605093, 18646565		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10655060, 11102973, 12032588, 12196663, 15551023, 15722103, 15965218, 16084085, 16227433, 17150192, 17327437, 17698609, 17870066, 19587457, 21840938, 21996501, 22431096, 22491857, 23048029, 23064282, 23427149, 24374133, 26098624, 28125586, 28686329, 29057633, 29578370, 29750601, 29893365, 31009944, 31410651, 31498906, 31807803		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy	Muscular dystrophy	LHGDN	12196663, 12783988, 18348272, 18551513		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	21945321, 37671549	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	10739751, 10739764, 11077661, 11470279, 12755701, 12854972, 15053843, 16314145, 17107595, 17493893, 22326558, 22555292, 23671687, 25886484, 26098624, 26165385, 26443318, 27911330, 28214269, 28531892, 28984111, 29581305, 29753763, 29770364, 29791652, 30191544, 30764827, 32059175, 32074578, 32253878, 32571898, 33626194, 34356086, 34507144, 35976242, 36253810, 36897110, 37639473, 39427442	Associate	★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	11799477, 20186049, 27532257		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	Congenital Muscular Dystrophy	ORPHANET_DG	18551513		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	Congenital Muscular Dystrophy	UNIPROT_DG	18551513		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	Congenital Muscular Dystrophy	BEFREE	20886652, 25274841		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	Congenital Muscular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	Congenital Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG	10814726, 12032588, 30055862		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	10939567, 11501948, 11503164, 11561226, 11709282, 11766876, 11792809, 11792810, 11929849, 11930270, 12138994, 12196663, 12490190, 12685553, 12729796, 12783988, 12854972, 14659775, 15622532, 15639119, 15691357, 15744034, 15748902, 15770669, 15832002, 16227433, 16403804, 16415042, 16584978, 16697197, 16825283, 16904876, 16965317, 17217858, 17536044, 17701980, 17761684, 18478590, 18816602, 18927124, 19021551, 19021553, 19124654, 19589462, 19716112, 19882644, 20225280, 20580235, 20848652, 21632249, 21653823, 21922471, 21962710, 22071332, 22541428, 23456229, 24718612, 25563468, 25886484, 26165385, 27099177, 27673727, 28531892, 28984111, 29192166, 29549040, 29619865, 29633897, 29893365, 30764827, 30853177, 31220270, 31410651, 31430335, 31460960		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	LHGDN	11973618, 17536044, 18396274, 18646565, 18816602, 19124654		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	15238509, 16478798		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	BEFREE	11102973, 11525883, 11733221, 11792809, 12032588, 12467734, 15832002, 19258295, 19446900, 20580235, 20837309, 20848652, 22071332, 23622360, 27220833		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	CLINVAR_DG	27854218		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E	Limb-Girdle Muscular Dystrophy	BEFREE	24647604		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	20150858, 26662654	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	26662654		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	36178741	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	25954030		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	16288872		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	12673789, 14755330, 15367859, 15539782, 15551023, 15596010, 15622532, 15744034, 15965218, 16314145, 17136397, 17467691, 17881656, 18339564, 18538321, 19084400, 19944109, 20886652, 20980393, 21179469, 21632249, 21840938, 22186027, 24642510, 25256213, 25274841, 25948554, 26323789, 27220833, 29624713, 29895224, 30287275, 31430335		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	12673789, 16288872, 17881656, 18339564		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	29628476	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	LHGDN	16823856		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	21632249		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	24040437	Associate	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Najjar syndrome	Najjar Syndrome	ORPHANET_DG	19283854		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	3026676, 3255389		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	37395027	Inhibit	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasm of small intestine	Intestinal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11207047, 14650434, 17550303, 18383208, 18836436, 20409316, 20593406, 20629083, 20838604, 21056685, 22051146, 25154392, 26439802, 26447202, 26715212, 27153443, 27233002, 27974701, 28938000, 29295717, 30150157, 30190500, 30585372, 30610489, 3255389, 9148862		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	15965218, 28686329, 32413188	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	35286896	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19264120, 23049808, 26439802, 27221609, 28422997		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28422997	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	18714339, 31476771, 32208162	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	15551023, 16288872, 22326558, 23142632, 26775134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular Diseases	CLINVAR_DG	15678000, 17377071, 18714801, 19446900, 24915601, 25525159, 28679633, 28798025, 8621584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular disease	Pubtator	22326558, 31309180, 32154989	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	14585157, 15965218, 16239243		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	35482673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia Nonimmune Chronic Idiopathic Adult	Neutropenia, nonimmune chronic idiopathic, adult	Pubtator	31841566	Associate	★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	10951489, 19740438, 20533549, 22458904, 24018805, 25109497, 25154392, 28240424, 28903426, 28919182, 29603326, 29628124, 30236106, 30477882, 30585372, 30725231, 31025722, 31060593, 31062495, 31111513, 31710002		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	BEFREE	22079058		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	22079058		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11015599, 11397881, 11440372, 12766116, 19401371, 21599722, 29731750		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18497734, 28874324	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22231515	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	28802583	Associate	★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	34680903	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	21982926		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	18767923, 29405587, 32155994	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	25846419, 30706289		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	BEFREE	30706289		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28188704		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30816440, 32235738	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39595984	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30384980		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19159301, 21439080, 34995293, 36899893	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28938416, 36712921	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21103616, 31841566		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	24842889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	30700532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	31514951	Associate	★☆☆☆☆ Found in Text Mining only
Partial lipodystrophy	Partial Lipodystrophy	BEFREE	10655047, 10810087, 10999791, 10999845, 11102973, 11792809, 11929849, 12490190, 12766116, 12788894, 12913070, 16826530, 17466974, 17556535, 18076675, 25286833, 25324471, 29044029		★☆☆☆☆ Found in Text Mining only
Patchy hypo- and hyperpigmentation	Patchy hypo- and hyperpigmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	21915271		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	29447142		★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	21103616		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal atrophy	Peripheral axonal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	19768759		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	15965218, 16084085		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	15965218	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	15965218, 16084085		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Peripheral Neuropathy	Peripheral Neuropathy	LHGDN	16084085		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Peroneal muscle atrophy	Peroneal muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	30223818		★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	BEFREE	21048491		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	28806747		★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	18364375, 18728124, 19401371, 23605101, 30131000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26662654	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	19875478, 24861648, 25327215, 27539898, 29267953, 31807803		★☆☆☆☆ Found in Text Mining only
Polymyalgia Rheumatica	Polymyalgia rheumatica	Pubtator	11876765	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	26443318	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	26443318		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28646729		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	2232854		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	2232854		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	13129702, 15130666, 15367859, 15756215, 15980864, 16246048, 16246140, 16258283, 16261260, 16645051, 16671095, 16738054, 16801550, 17536044, 17618517, 18311132, 18366013, 18513784, 18554282, 18596264, 18836436, 19882644, 19926845, 21327095, 21840938, 21871450, 21875900, 22079058, 22231515, 22340368, 22541428, 22610065, 22795640, 23439683, 23450819, 23539603, 23635409, 23666920, 24040437, 24153156, 24294364, 24623722, 25055884, 25587796, 25649378, 25820511, 26171741, 26922519, 27220833, 28229933, 28423660, 29405587, 29800922, 29936894, 30109767, 30282816, 30884114, 31006814, 31647095		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	LHGDN	17718387		★☆☆☆☆ Found in Text Mining only
Premature arteriosclerosis	Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	21903150		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	19283854		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	LHGDN	12702809, 12714972, 12768443, 15342704, 15982412, 16738054, 17459035, 17469202, 17848622, 17881656, 18348272, 18442998		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	CLINVAR_DG	12702809, 12714972, 15121795, 15317753, 17076270, 17469202, 22065502, 23497705, 23659872, 23804595, 24639906, 24687084		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	12714972, 12768443, 15184648, 15205220, 15268757, 15475483, 15479179, 15622532, 15671064, 15982412, 16093717, 16129833, 16129834, 16186497, 16208517, 16258283, 16261260, 16278265, 16440304, 16461887, 16478798, 16481358, 16492728, 16645051, 16671095, 16738054, 16772334, 16801550, 16825282, 16838330, 16920618, 16987878, 17090536, 17301031, 17360355, 17459035, 17459069, 17469202, 17556535, 17881656, 18060063, 18311132, 18363904, 18366013, 18442998, 18708427, 18836436, 18843043, 19172989, 19376814, 19428457, 19432833, 19875478, 19926845, 19938095, 20074076, 20079404, 20374482, 20551664, 20580717, 20605919, 20833363, 20974128, 20980393, 21326826, 21327095, 21346760, 21479207, 21504799, 21549337, 21622261, 21622271, 21670498, 21738662, 21746928, 21791255, 21871450, 21875900, 21941106, 21993218, 22030750, 22065502, 22079058, 22103512, 22148005, 22419169, 22533413, 22541428, 22549407, 22610065, 22893709, 22933563, 22948034, 22991222, 23141186, 23152449, 23324461, 23439683, 23539603, 23649804, 23666920, 23934658, 24067370, 24112551, 24153156, 24294364, 24305605, 24440603, 24522183, 24603298, 24637396, 24786082, 24861648, 25055884, 25090270, 25216752, 25256213, 25286833, 25587796, 25649378, 25667091, 25738644, 25961132, 26079711, 26115946, 26171741, 26341717, 26443848, 26474704, 26663466, 26670336, 26847180, 26890144, 26922519, 26999604, 27145372, 27539898, 27649756, 27677907, 28125586, 28229933, 28423660, 28477268, 28483909, 28597562, 28660486, 28712764, 28855503, 28857661, 28944914, 29047356, 29112121, 29267953, 29342131, 29361532, 29405587, 29429991, 29466729, 29476423, 29581305, 29702688, 29907918, 30037605, 30337599, 30450527, 30766871, 30778240, 30862662, 30900948, 30906869, 31006814, 31018503, 31041622, 31128203, 31152494, 31156709, 31199775, 31411525, 31647095, 31727429, 31794853, 31833196, 31834988		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	UNIPROT_DG	12714972, 12768443, 12927431, 15060110, 15286156, 15622532, 19933576, 21791255, 22355414, 23666920		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	CTD_human_DG	15726408, 17469202, 23217256, 28229933		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	GENOMICS_ENGLAND_DG	20186049, 27532257		★☆☆☆☆ Found in Text Mining only
Progeria Syndrome, Childhood-Onset	Progeria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	11077661	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10951489, 18383208, 20220513, 22025297, 22692290, 22949099, 24018805, 25154392, 26181205, 28240424, 28919182, 28977728, 29094384, 29295717, 29665450, 30585372, 30900303, 31018850, 31111513, 31710002, 31734052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	18383208		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26469707	Associate	★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	20819672		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19859838		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24067370		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	29741282		★☆☆☆☆ Found in Text Mining only
Restrictive dermopathy	Restrictive Dermopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	BEFREE	12356909, 17466505, 20838604		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	30251476		★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	BEFREE	25820511		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	23035061		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	26216294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	26216294, 32957984	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	35422060	Associate	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	38090549	Associate	★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	CTD_human_DG	15726408		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	19842191		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerosis of hand bone	Sclerosis of hand bone	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Second degree atrioventricular block	Atrioventricular block	CLINVAR_DG	27717888		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	26546295, 26563355		★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	20631028		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	29458172		★☆☆☆☆ Found in Text Mining only
Severe periodontitis	Periodontitis	BEFREE	31749207		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	27182706		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	27182706, 30221713	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sinoatrial Block	Sinoatrial Block	CTD_human_DG	15996213		★☆☆☆☆ Found in Text Mining only
Sinoatrial Block	Sinoatrial Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	27835913	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	14675861, 33953703	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	1985776		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	28851664		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	31199775		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	26556829	Associate	★☆☆☆☆ Found in Text Mining only
Specific Language Disorder	Specific language disorder	Pubtator	35384599	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	25886484	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	25886484, 31397869		★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28868787, 30621628		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32860673	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23659872, 24002959		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19144202		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	10517909	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10517909, 17007014	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19144202	Inhibit	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	17493893, 23360689, 35544069	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subcutaneous calcification	Subcutaneous calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	27884249	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	19645629, 19842191		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia Paroxysmal	Paroxysmal tachycardia	Pubtator	32062135, 36095892	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	19638735, 23912926, 29095976, 32616434, 32972544, 36095892, 36494026	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	CTD_human_DG	15996213		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	17987279, 23912926, 27506821, 29095976, 31060954, 31155932		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	26725200, 30781626		★☆☆☆☆ Found in Text Mining only
Temporomandibular ankylosis	Temporomandibular Ankylosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	22148005, 23073275, 31788659, 35526016, 40689545	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26732077, 31841566		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31841566	Associate	★☆☆☆☆ Found in Text Mining only
Tight skin contracture syndrome lethal	Tight skin contracture syndrome	Pubtator	16297189, 17062639, 23475125, 23597553, 23804595, 29794150	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	16429102		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid valve disease	Pubtator	29047356, 33824984	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24786829, 24969877, 31642210		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	22281253		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	26254781		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	25954030		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	22458904		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16117820, 26474704		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	23846499, 32727917	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	27835913	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	23073275	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	19167105, 20497714, 22281253, 23349452, 23811080, 24058181, 25829471, 27506821, 27576561, 27813223, 27884249, 28790152, 31060954, 31514951		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	27884249, 30078822, 32666643, 34360639	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	33824984	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	22019351		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	31847799, 32666643, 36494026	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	28874324		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	14675861, 21689390, 29386531	Associate	★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	21085190		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	21085190		★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	19270485, 22065502, 23257959, 28423660, 29476423, 29581305	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Werner Syndrome	Werner Syndrome	BEFREE	22065502, 24152769, 26172944, 31270292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wiedemann-Rautenstrauch syndrome	Wiedemann-Rautenstrauch Syndrome	BEFREE	19938095		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	CTD_human_DG	10814726, 12032588, 30055862		★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	BEFREE	11073359, 16403804, 20175956		★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only