Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4000
Gene name	Lamin A/C
Gene symbol	LMNA
Synonyms (NCBI Gene)	CDCD1CDDCCMD1ACMT2B1EMD2FPLFPLDFPLD2HGPSIDCLDP1LFPLGMD1BLMN1LMNCLMNL1MADAPRO1
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

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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

212

Show/Hide all (212)

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 assayMicroarray	25597268
MIRT731197	hsa-miR-205-5p	Luciferase reporter assayMicroarray	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

Show/Hide all (68)

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

MIM	HGNC	e!Ensembl
150330	6636	ENSG00000160789

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

Interactions

View interactions

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

4355

Show/Hide Causal Diseases (48)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs2102881813, rs58932704, rs267607631, rs57629361, rs59332535	RCV001814547 RCV001813989 RCV001836884 RCV001814041 RCV001814042
Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic; Pathogenic	rs386134243	RCV000852407
Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic	rs1114167345, rs727505038	RCV000491922 RCV000511737
Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic	rs1651341099	RCV001200924
Bethlem myopathy 1A	Likely pathogenic; Pathogenic	rs61444459	RCV005089469
Cardiomyopathy	Likely pathogenic; Pathogenic	rs2102898301, rs2102901937, rs1057515421, rs2527991248, rs28933093, rs386134243, rs1553265647, rs397517889, rs60682848, rs267607573, rs56816490, rs267607554, rs869125101, rs267607577, rs267607571, rs59332535, rs1651642668 View all (2 more)	RCV001844768 RCV002271814 RCV001798692 RCV003487231 RCV001170451 RCV003149579 RCV001170980 RCV005402823 RCV001170453 RCV003531940 RCV000769726 RCV005402824 RCV000781511 RCV000157296 RCV000768712 RCV003230389 RCV001170982
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2102890974, rs2102896324, rs2102879360, rs2102895466, rs2102890051, rs2527968714, rs2527967028, rs2527981305, rs2527988932, rs2527990239, rs2528012634, rs59270054, rs1222398892, rs794728589, rs794728593 View all (70 more)	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
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs57920071, rs267607581	RCV001174239 RCV001174242
Charcot-Marie-Tooth disease type 2	Likely pathogenic; Pathogenic	rs1651453317, rs2102817550, rs1553264668, rs2102816719, rs2102818068, rs2102818172, rs2102818731, rs1649736692, rs28933093, rs2102878324, rs2527973445, rs2102888695, rs2102889960, rs2102890220, rs2102890245 View all (266 more)	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
Charcot-Marie-Tooth disease type 2B1	Likely pathogenic; Pathogenic	rs397517889, rs59332535	RCV003236576 RCV000662104
Conduction system disorder	Likely pathogenic	rs869025458	RCV000208251
Congenital muscular dystrophy	Likely pathogenic; Pathogenic	rs794728595, rs61444459, rs59332535	RCV004527517 RCV004018989 RCV004018991
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 View all (3 more)	RCV005254717 RCV000199480 RCV000202605 RCV003326722 RCV003313922 RCV005859465 RCV000015604 RCV000015620 RCV000015621 RCV000015623 RCV003988726 RCV000785916 RCV000030147 RCV004546422 RCV003448256 RCV003483458 RCV000015625 RCV000991275 RCV003313994
Dilated cardiomyopathy 1A	Likely pathogenic; Pathogenic	rs59301204, rs2102883099, rs2102896324, rs2527972277, rs794728593, rs794728594, rs794728613, rs2527973222, rs1057515421, rs730882262, rs2527980043, rs2527972496, rs2528018977, rs58932704, rs28928900 View all (46 more)	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
Dilated cardiomyopathy 1S	Pathogenic	rs59026483, rs59684335	RCV000491585 RCV000490978
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Pathogenic	rs28928903, rs58922911	RCV000015600 RCV000015627
Emery-Dreifuss muscular dystrophy	Pathogenic	rs60458016	RCV001420791
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 View all (15 more)	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
Familial partial lipodystrophy	Likely pathogenic; Pathogenic	rs57920071	RCV001248961
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
Heart-hand syndrome, Slovenian type	Likely pathogenic; Pathogenic	rs386134243, rs267607582, rs267607559	RCV000721960 RCV000015618 RCV004767053
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs113610699	RCV005902022
Hutchinson-Gilford progeria syndrome, atypical	Pathogenic; Likely pathogenic	rs797044487, rs797044488, rs79907212, rs60310264	RCV000190822 RCV000190823 RCV000201431 RCV000015596
Hutchinson-Gilford progeria syndrome, childhood-onset	Pathogenic	rs730882262, rs60864230, rs60652225	RCV000162192 RCV000015578 RCV000015601
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
Hypertrophic cardiomyopathy 1	Likely pathogenic; Pathogenic	rs1057515421	RCV001256761
Laminopathy	Likely pathogenic; Pathogenic	rs876657649, rs386134243, rs56984562, rs121912496, rs56816490, rs267607555	RCV000223064 RCV000844672 RCV004786315 RCV000041362 RCV006249573 RCV004786332
Left ventricular noncompaction	Likely pathogenic; Pathogenic	rs386134243	RCV000845456
Limb-girdle muscular dystrophy	Likely pathogenic	rs1131691263	RCV005625638
Lipodystrophy	Likely pathogenic; Pathogenic	rs57077886, rs267607591	RCV000755005 RCV000146262
LMNA-associated condition	Likely pathogenic	rs1572363509	RCV000850629
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
Long QT syndrome	Likely pathogenic; Pathogenic	rs28933093	RCV003318333
Mandibuloacral dysplasia with type A lipodystrophy	Pathogenic	rs483352811, rs56673169, rs121912494	RCV000087081 RCV000015603 RCV000015619
Melanoma	Pathogenic	rs267607640	RCV005912494
Monogenic diabetes	Likely pathogenic; Pathogenic	rs267607555	RCV000754811
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
Neuromuscular disease	Likely pathogenic; Pathogenic	rs57508089, rs267607592	RCV000041309 RCV000150954
Neuronopathy, distal hereditary motor, autosomal dominant	Pathogenic	rs267607623	RCV000790003
Papillary renal cell carcinoma type 1	Pathogenic	rs267607588	RCV005898453
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs58389804, rs111569862, rs267607577, rs794728597, rs794728606, rs794728593, rs59564495, rs794728589, rs876657650, rs878855234, rs61046466, rs57520892, rs28933091, rs28933092, rs58596362 View all (41 more)	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
Primary familial dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs794728605, rs386134243, rs57730570, rs56816490, rs267607554, rs1572332762, rs1572359848, rs28933092	RCV005431531 RCV003492303 RCV000624376 RCV001251293 RCV002265579 RCV000845422 RCV005408015 RCV000624578 RCV004799772
Proximal muscle weakness	Likely pathogenic	rs1651596554	RCV001281579
Restrictive dermopathy 2	Pathogenic	rs58596362, rs113436208	RCV001847608 RCV001847645
Right ventricular cardiomyopathy	Pathogenic	rs730882262	RCV000162192
See cases	Pathogenic	rs794728598	RCV001268969
Sick sinus syndrome	Likely pathogenic	rs2527834624	RCV003447662
Sudden unexplained death	Pathogenic	rs61672878	RCV001089610

Show/Hide Unknown Diseases (47)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Atrioventricular block	Conflicting classifications of pathogenicity	rs794728591	RCV004786500
Autosomal recessive axonal hereditary motor and sensory neuropathy	Conflicting classifications of pathogenicity	rs59885338	RCV000826146
Autosomal semi-dominant severe lipodystrophic laminopathy	Conflicting classifications of pathogenicity	rs142191737	RCV003993830
Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting classifications of pathogenicity	rs61094188	RCV000157295
Cervical cancer	Benign; Likely benign	rs80356809	RCV005890233
Cholangiocarcinoma	Benign	rs41310120, rs553016	RCV005919538 RCV005890397
Collapse (finding)	Uncertain significance	rs267607561	RCV000157294
Dehydrated hereditary stomatocytosis 2	Conflicting classifications of pathogenicity	rs138592977	RCV005863071
Developmental regression	Uncertain significance	rs1649704361	RCV001090180
Dilated Cardiomyopathy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity	rs886045361, rs199881992, rs886045355, rs886045357, rs886045358, rs886045360, rs886045362, rs775159300, rs1057516022, rs267607603	RCV000369092 RCV000262176 RCV000407508 RCV000279288 RCV000318600 RCV000359848 RCV000391566 RCV000284978 RCV000398598 RCV000259414
Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Conflicting classifications of pathogenicity; Uncertain significance	rs11575937, rs28928901, rs770543241, rs199474724, rs267607613, rs1263919141	RCV000190399 RCV000015583 RCV004566631 RCV000190400 RCV005409612 RCV003458326
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	rs751707982, rs80356809	RCV005893800 RCV005890231
Familial pancreatic carcinoma	Benign; Likely benign	rs80356809, rs141879453	RCV005890234 RCV005890391
Family history of sudden cardiac death	Uncertain significance	rs267607561	RCV000157294
Gastric cancer	Benign	rs80264244	RCV005890399
Hereditary liability to pressure palsies	Uncertain significance	rs57877560	RCV000789669
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs878855233, rs397517901	RCV000498163 RCV000853426
Hypertrophic cardiomyopathy 2	Benign; Likely benign	rs11549668	RCV004595890
Insulin-resistant diabetes mellitus AND acanthosis nigricans	Conflicting classifications of pathogenicity	rs60662302	RCV000148601
Intellectual disability	Uncertain significance	rs372567202	RCV005625380
Lethal tight skin contracture syndrome	Conflicting classifications of pathogenicity; Uncertain risk allele; Uncertain significance; Likely benign; Benign	rs368386019, rs377700689, rs142191737, rs41314035, rs60864230, rs150645079, rs751707982, rs775159300, rs878855233, rs200466188, rs886045359, rs886045361, rs886045364, rs199881992, rs375516745 View all (38 more)	RCV001330501 RCV001098893 RCV001101057 RCV000331994 RCV001096448 RCV001099968 RCV001096749 RCV001102250 RCV001100715 RCV001100620 RCV000307448 RCV000277124 RCV000335629 RCV000370046 RCV000341138 RCV000344641 RCV000353336 RCV000329887 RCV000337822 RCV000375572 RCV000407148 RCV000359648 RCV000406475 RCV000319307 RCV000367228 RCV000313247 RCV000333140 RCV000358456 RCV001098787 RCV000317932 RCV000285289 RCV000383154 RCV001096946 RCV001102454 RCV000392971 RCV000399953 RCV000268685 RCV001330499 RCV000339153 RCV001096444 RCV001098095 RCV000344918 RCV001102065 RCV000268196 RCV000278366 RCV001098492 RCV001096836 RCV001100367 RCV000324542 RCV001099594 RCV001096248 RCV001102070 RCV001100503 RCV001099170 RCV001101874
Limb-girdle muscular dystrophy, recessive	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs41314035, rs886045359, rs886045361, rs886045364, rs199881992, rs375516745, rs886045354, rs886045355, rs886045356, rs886045357, rs886045358, rs80356803, rs886045360, rs115800510, rs886045362 View all (15 more)	RCV000274426 RCV000403626 RCV000307684 RCV000281871 RCV000313011 RCV000387328 RCV000313835 RCV000289831 RCV000295891 RCV000276841 RCV000379268 RCV000384802 RCV000405878 RCV000374360 RCV000391573 RCV000366122 RCV000348346 RCV000322274 RCV000407235 RCV000315427 RCV000265426 RCV000379234 RCV000402362 RCV000337260 RCV000370762 RCV000350197 RCV000371234 RCV000325561 RCV000385848 RCV000384768
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules	Conflicting classifications of pathogenicity; Uncertain risk allele; Uncertain significance; Likely benign; Benign	rs377700689, rs142191737, rs41314035, rs60864230, rs150645079, rs751707982, rs775159300, rs878855233, rs200466188, rs886045359, rs886045361, rs886045364, rs199881992, rs375516745, rs886045354 View all (36 more)	RCV001097149 RCV001100810 RCV000392082 RCV001096449 RCV001099965 RCV001096751 RCV001102248 RCV001098894 RCV001100617 RCV000261874 RCV000283250 RCV000294652 RCV000316315 RCV000337310 RCV000368648 RCV000338085 RCV000359267 RCV000341353 RCV000275157 RCV000380050 RCV000270930 RCV000304900 RCV000312458 RCV000372986 RCV000310763 RCV000278097 RCV000304893 RCV001098783 RCV000346677 RCV000320485 RCV000289568 RCV001096943 RCV001097053 RCV000300868 RCV000377490 RCV000276010 RCV000398387 RCV001101881 RCV001098092 RCV000311894 RCV001100068 RCV000271656 RCV000339029 RCV001098489 RCV001102252 RCV001102350 RCV000298159 RCV001099599 RCV001097999 RCV001102071 RCV001102451 RCV001099173 RCV001099886
Lung cancer	Benign; Likely benign	rs80356809, rs141879453, rs80264244	RCV005890237 RCV005890393 RCV005890400
Malignant tumor of esophagus	Benign; Likely benign	rs80356809	RCV005890232
Mandibuloacral dysplasia	Uncertain significance; Conflicting classifications of pathogenicity	rs886045361, rs199881992, rs886045355, rs886045357, rs886045358, rs886045360, rs886045362, rs775159300, rs57520892, rs1057516022	RCV000371719 RCV000373251 RCV000404192 RCV000303668 RCV000393819 RCV000272013 RCV000404736 RCV000342371 RCV000148607 RCV000311797
Mandibuloacral dysplasia with type A lipodystrophy, atypical	Conflicting classifications of pathogenicity	rs57520892, rs28928902, rs60890628, rs121912493	RCV000015592 RCV000015597 RCV000015613 RCV000015617
Maturity-onset diabetes of the young	Benign; Likely benign	rs115800510	RCV002465611
Metabolic disease	Uncertain significance	rs267607648	RCV000148611
Myocarditis	Conflicting classifications of pathogenicity	rs397517912	RCV002054813
Nonpapillary renal cell carcinoma	Benign	rs553016	RCV005890394
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs879253917, rs141879453	RCV005890957 RCV005890392
Paroxysmal familial ventricular fibrillation	Uncertain significance	rs863225270	RCV000201884
Peripheral neuropathy	Conflicting classifications of pathogenicity	rs142191737, rs794728588	RCV000449630 RCV000852405
Polyneuropathy	Uncertain significance	rs1166140426	RCV000850298
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs730880133, rs869025456, rs56851164, rs397517913, rs267607613	RCV000157297 RCV000208154 RCV000208012 RCV000853156 RCV000208352
Relative macrocephaly	Uncertain significance	rs1649704361	RCV001090180
Sarcoma	Benign	rs80264244	RCV005890398
Severe muscular hypotonia	Uncertain significance	rs1649704361	RCV001090180
Thymoma	Benign; Likely benign	rs41310120, rs201379016	RCV005919537 RCV005908886
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs80356809	RCV005890235
Uterine carcinosarcoma	Benign	rs553016	RCV005890396
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	rs41310120, rs759249597	RCV005919539 RCV005931299
Uveal melanoma	Benign; Likely benign	rs141879453, rs553016	RCV005890390 RCV005890395
Variant of unknown significance	Conflicting classifications of pathogenicity	rs142000963	RCV000015626
Ventricular tachycardia	Conflicting classifications of pathogenicity	rs757041809	RCV005245490
Wolff-Parkinson-White pattern	Uncertain significance	rs758048062	RCV000656219

Show/Hide Text Mining Associations (291)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	34360639
Acanthosis Nigricans	Associate	29267953, 31857427
Acro Osteolysis	Associate	26733286
Acute Disease	Associate	35384599
Adenocarcinoma of Lung	Associate	32111074
Adenoma	Associate	36561231
Adrenocortical Carcinoma	Associate	25691058
Aging Premature	Associate	16262891, 16738054, 18847334, 19926845, 23257959, 23439683, 23873483, 24623722, 24786082, 25399868, 25649378, 28423660, 28857661, 29405587, 29791652 View all (5 more)
Alcohol Related Disorders	Associate	20130076, 26098624
Alopecia	Associate	18256394
Alzheimer Disease	Associate	10739751, 15053843, 18848371, 32155994, 34356086
Alzheimer Disease	Stimulate	30781626, 37884611
Amyotrophic Lateral Sclerosis	Associate	33661429
Aneuploidy	Associate	21439080, 21627864
Antithrombin III Deficiency	Associate	18480576
Aortic Valve Stenosis	Associate	33626194, 35524481, 38255001
Apical Hypertrophic Cardiomyopathy	Associate	14675861
Arrhythmias Cardiac	Associate	12854972, 16386954, 17599607, 19638735, 22281253, 23349452, 27884249, 29095976, 29628476, 30078822, 31060954, 31316208, 31383942, 31514951, 31788659 View all (13 more)
Arrhythmogenic Right Ventricular Dysplasia	Associate	25837155, 26620845, 27199538, 31319917, 35526016
Arrhythmogenic Right Ventricular Dysplasia	Stimulate	38404225
Arthritis Rheumatoid	Associate	27835913
Asthma Chronic Obstructive Pulmonary Disease Overlap Syndrome	Associate	20041886, 32413188
Ataxia	Associate	25954030
Ataxia Telangiectasia	Associate	37345209
Atherosclerosis	Associate	22148005, 23846499, 33482093
Atrial Fibrillation	Associate	19427440, 20041886, 23073275, 33887581, 34106654, 35772917, 36095892, 36253810, 36548481, 40689545
Atrial Flutter	Associate	29095976, 33502018
Atrial myxoma familial	Associate	28874324
Atrial Standstill	Associate	11897440, 20041886
Atrioventricular Block	Associate	11897440, 18926329, 19638735, 20413395, 25886484, 27884249, 28874324, 28878402, 29095976, 30221713, 31060954, 31118417, 31788659, 31847799, 32666643 View all (7 more)
Attention Deficit Disorder with Hyperactivity	Associate	18256394
Autosomal Emery Dreifuss Muscular Dystrophy	Associate	28531892, 29791652, 32962641
Bohring syndrome	Associate	32969603
Bone Diseases	Associate	18847334, 29845577, 32413188
Bone Diseases Developmental	Associate	25324471
Bone Diseases Metabolic	Associate	29845577, 37448194
Bone Neoplasms	Associate	25324471
Brachydactyly	Associate	34246298
Bradycardia	Associate	26620845, 35772917
Branchio Oto Renal Syndrome	Associate	30221713
Branchiootic syndrome	Associate	30221713
Breast Neoplasms	Associate	10517909, 18612243, 21627864, 24293108, 31578772, 32570693, 35896617, 36552797
Breast Neoplasms	Inhibit	26175118
Calcinosis	Associate	29845577
Calcinosis Cutis	Associate	26563355, 28806747, 32348852
Carcinogenesis	Associate	30134855, 36405011, 36899893, 37395027
Carcinoma	Associate	30134855, 36357104
Carcinoma Basal Cell	Associate	11207047
Carcinoma Hepatocellular	Associate	35977926, 36405011
Carcinoma Non Small Cell Lung	Associate	36362025
Carcinoma Renal Cell	Associate	37749865
Cardiac Conduction System Disease	Associate	10580070, 10739751, 12821245, 12854972, 15219508, 16386954, 18585512, 19427440, 26165385, 33626194, 34958940
Cardio Renal Syndrome	Associate	37572165
Cardiomegaly	Associate	34360639
Cardiomyopathies	Associate	17599607, 20041886, 21311568, 21689390, 23324461, 23873483, 26165385, 26634508, 27421120, 27884249, 28679633, 28686329, 28754655, 28878402, 29047356 View all (29 more)
Cardiomyopathy Dilated	Associate	10580070, 10739751, 10974018, 11897440, 12628721, 12821245, 12854972, 14675861, 15219508, 16314145, 16386954, 18480576, 18585512, 18926329, 19427440 View all (103 more)
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	25873806
Cardiomyopathy Hypertrophic	Associate	28874324, 30871747
Cardiomyopathy Hypertrophic Familial	Associate	26199943, 28874324
Cardiomyopathy Restrictive	Associate	26733286, 29741282
Cardiovascular Abnormalities	Associate	16314145, 33502018
Cardiovascular Diseases	Associate	33414362, 35384599
Carotid Artery Internal Dissection	Associate	35287606
Cataract Age Related Nuclear	Associate	16645051, 20127487, 23324461
Cataract Nuclear Progressive	Associate	16261260, 18363904, 23077635, 25649378
Charcot Marie Tooth Disease	Associate	12854972, 19657941, 25886484, 26556829, 29791652, 39427442
Charcot Marie Tooth disease Type 2B	Associate	16415973
Charcot Marie Tooth disease X linked recessive 2	Associate	15965218
Cognition Disorders	Associate	18848371
Colonic Neoplasms	Inhibit	10517909
Colonic Neoplasms	Associate	21621406
Colorectal Neoplasms	Associate	18714339, 21621406, 21983087, 26469707, 26563355, 35237889
Conduct Disorder	Associate	29047356, 29197877, 31118417, 31847799, 32962641, 34360639
Congenital Abnormalities	Associate	15750600, 17150192, 18796515, 19875478, 32698886
Contracture	Associate	28182637
Coronary Artery Disease	Associate	22065502, 29047356
COVID 19	Associate	35384599, 35482673
Craniosynostoses	Associate	29845577
Cushing Syndrome	Associate	29791652
Cutis Laxa Autosomal Recessive Type IIB	Associate	18796515
Deafness	Associate	30221713
Death	Associate	20041886, 22419169, 23324461
Death Sudden	Associate	16386954, 19638735, 20041886, 29943882, 33953703, 37217929
Death Sudden Cardiac	Associate	14675861, 20307303, 27182706, 30078822, 31847799, 32666643, 35205214, 35470684, 37348923, 38404225, 40689545
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	39273049
Dentin dysplasia sclerotic bones	Associate	18256394
Depressive Disorder	Associate	21689390
Diabetes Mellitus	Associate	10810087, 12075506, 24002959, 26662654, 28686329, 28874324, 28938416, 29267953, 32012908
Diabetes Mellitus Type 1	Associate	36418577
Diabetes Mellitus Type 2	Associate	18497734
Diffuse Neurofibrillary Tangles with Calcification	Associate	32155994
Disease	Associate	12854972, 22281253, 30012837, 32727917, 33502018, 34029931, 34652067
Disease Progression	Associate	35205305
DNA Repair Deficiency Disorders	Associate	23804595
Dropped Head Syndrome	Associate	28221305
Drug Hypersensitivity	Associate	15982412
Ductus Arteriosus Patent	Associate	21915271
Dwarfism stiff joint ocular abnormalities	Associate	26733286
Dysferlinopathy	Associate	39350328
Dyskinesia Drug Induced	Associate	32962641
Dyslipidemias	Associate	10810087, 24002959, 28874324, 33823916
Dysostoses	Associate	29845577
Electric Injuries	Associate	33824984
Embolism Fat	Associate	21945321, 26662654
Encephalitis Herpes Simplex	Associate	26976018
Endometrial Neoplasms	Associate	27974701
Epilepsies Myoclonic	Associate	25954030
Epileptic Syndromes	Associate	32846814
familial dilated cardiomyopathy	Associate	12854972, 15219508, 18585512, 19638735, 20307303, 23362510, 25319090, 26199943, 27235420, 29095976, 30221713, 31788659, 32962641, 33887581, 34498126, 36526864 View all (1 more)
Fasciculation	Associate	30218058
Fatty Liver	Associate	19270485, 24002959, 35440056
Fibrosarcoma	Associate	30709876, 32957984
Fibrosis	Associate	17599607, 21945321, 27585670, 37840136
Fragile X Syndrome	Associate	36039758
Fused Teeth	Associate	35466949
Gait Ataxia	Associate	34979702
Gastrointestinal Neoplasms	Associate	10517909
Gastrointestinal Stromal Tumors	Associate	36357104
Genetic Diseases Inborn	Associate	16386954, 17352743, 19574635, 23077635, 24349489, 24637396, 28679633, 29845577, 30012837, 34680903
Giant Cell Arteritis	Associate	11876765
Glioblastoma	Associate	40305992
Glomerulonephritis Membranous	Stimulate	18363904
Growth Disorders	Associate	17352743, 18256394, 22065502
Head and Neck Neoplasms	Associate	28182637, 32962641
Hearing Loss	Associate	28944914, 30221713
Hearing Loss Conductive	Associate	18256394
Heart Block	Associate	20307303, 21689390, 27199538, 29095976, 29741282, 35466949
Heart Defects Congenital	Inhibit	35286896
Heart Diseases	Associate	20383812, 21179469, 23362510, 23582089, 23912926, 24349489, 25886484, 26165385, 27884249, 29047356, 29095976, 29149195, 29791652, 30221713, 30287851 View all (26 more)
Heart Failure	Associate	16386954, 17599607, 18926329, 20041886, 22281253, 23183350, 26165385, 26199943, 27199538, 27585670, 27884249, 28878402, 29047356, 29702688, 29741282 View all (15 more)
Hemangioma	Associate	26135557
Hepatomegaly	Associate	29267953
Hereditary Sensory and Motor Neuropathy	Associate	19657941
Histiocytosis Langerhans Cell	Associate	27617936
HIV Infections	Associate	29717016
Holt Oram syndrome	Associate	14675861
Hyperandrogenism	Associate	35440056
Hyperinsulinism	Associate	10810087
Hypersensitivity Delayed	Associate	34360639
Hypertension	Associate	10810087, 24002959, 28686329, 28784648
Hypertriglyceridemia	Associate	28686329, 29267953, 32012908
Hypoadiponectinemia	Associate	35524481
Hypotension	Associate	23804595
Hypoxia	Associate	26181205, 35977926
Ichthyosis prematurity syndrome	Associate	16801550
Idiopathic dilation cardiomyopathy	Associate	29770364
Idiopathic Pulmonary Fibrosis	Associate	36848480
Infarction	Associate	40689545
Infections	Associate	23427156, 34592156
Inflammation	Associate	18497734, 23846499, 26029982, 27585670, 28182637, 31650515, 32872320, 34773379
Insulin Resistance	Associate	12075506, 16262891, 20130076, 21945321, 24002959, 26662654
Intervertebral Disc Degeneration	Associate	30536301
Intestinal Neoplasms	Associate	36357104
Jones Hersh Yusk syndrome	Associate	19875478
Kidney Diseases	Associate	31383942
Kidney Failure Chronic	Associate	23349452, 27884249, 30078822, 31303467, 37639473, 38090549
Laminopathies	Associate	15596010, 15965218, 17150192, 17274801, 22065502, 22326558, 23077635, 23324461, 23733478, 23804595, 24623722, 24786082, 24839233, 25319090, 25837155 View all (47 more)
LEOPARD Syndrome	Associate	21179469
Leukemia Myeloid Accelerated Phase	Associate	35269487, 39408822
Leukemia T Cell	Associate	28422997
Limb girdle muscular dystrophy type 1B	Associate	12854972, 15832002, 29770364, 29791652, 32571898, 35466949, 36526864
Lipodystrophy	Associate	10810087, 12075506, 15596010, 17150192, 17870066, 19270485, 20041886, 21993218, 23197810, 23846499, 25324471, 27585670, 27841971, 28686329, 28751304 View all (11 more)
Lipodystrophy Congenital Generalized	Associate	28686329
Lipodystrophy Familial Partial	Associate	10739751, 10810087, 12075506, 12854972, 16826530, 17274801, 17327461, 18076675, 19220582, 19574635, 19622949, 20041886, 20130076, 21479595, 21993218 View all (26 more)
Lipodystrophy Partial Acquired	Associate	16826530
Lipoma	Associate	28938416
Long QT Syndrome	Associate	23582089, 35526016
Lung Diseases	Associate	26216294, 35149769
Lung Neoplasms	Associate	10517909, 36012358
Lupus Erythematosus Systemic	Associate	27835913
Lymphatic Metastasis	Associate	26469707
Lymphoblastic Transformation Inhibition of	Associate	26165385
Lymphoma	Associate	28422997
Lymphoma Non Hodgkin	Associate	37217929
Mandibuloacral dysplasia with type A lipodystrophy	Associate	12075506, 12854972, 15473259, 16046620, 17150192, 17274801, 18435794, 18554282, 18796515, 19875478, 20814950, 21419220, 22549407, 22706480, 23804595 View all (6 more)
Mandibuloacral dysplasia with type B lipodystrophy	Associate	29794150
Melanoma	Associate	32571981
Metabolic Diseases	Associate	29267953
Metabolic Syndrome	Associate	19401371, 28751304, 28874324, 29791652, 32012908
Mitochondrial Diseases	Associate	25996284, 35466949
Mitral Valve Insufficiency	Associate	38255001
Mitral Valve Stenosis	Associate	29047356
Multiple Pterygium Syndrome Autosomal Dominant	Associate	17493893
Muscle Neoplasms	Associate	28182637
Muscle Weakness	Associate	29741282, 35466949
Muscular Atrophy Spinal	Associate	25886484
Muscular Diseases	Associate	11897440, 15053843, 15596010, 15965218, 21179469, 22326558, 23360689, 25948554, 32062135, 32413188, 32962641, 33033404, 39232665
Muscular Dystrophies	Associate	15965218, 17870066, 19835634, 21311568, 21535365, 23873483, 25653289, 26098624, 27199538, 28686329, 31309180, 32231000, 32245113, 32253878, 32571898 View all (6 more)
Muscular Dystrophies Limb Girdle	Associate	27585670, 29770364, 29791652, 32576226, 35466949, 39427442, 39940784
Muscular Dystrophy Cardiac Type	Associate	32585971
Muscular Dystrophy Congenital Megaconial Type	Associate	37448194
Muscular Dystrophy Duchenne	Associate	21945321, 37671549
Muscular Dystrophy Emery Dreifuss	Associate	10739751, 10739764, 11077661, 11470279, 12755701, 12854972, 15053843, 16314145, 17107595, 17493893, 22326558, 22555292, 23671687, 25886484, 26098624 View all (24 more)
Musculoskeletal Abnormalities	Associate	22231515, 34246298, 37348923
Myocardial Infarction	Associate	20150858, 26662654
Myocarditis	Associate	36178741
Myopathies Structural Congenital	Associate	33170376
Myopathy Central Core	Associate	29628476
Myopathy with Lactic Acidosis Hereditary	Associate	20130076
Myositis Inclusion Body	Associate	24040437
Necrosis	Inhibit	37395027
Neoplasm Metastasis	Associate	30134855, 37749865
Neoplasms	Associate	10517909, 11207047, 14650434, 21535365, 21621406, 21627864, 23349452, 24067370, 24285572, 24786082, 26029982, 26216294, 27974701, 28333438, 28422997 View all (21 more)
Neoplasms	Stimulate	17954908
Neoplasms	Inhibit	19144202
Neoplastic Syndromes Hereditary	Associate	35526016
Nerve Degeneration	Associate	19657941, 23804595, 29047356
Nervous System Diseases	Associate	15965218, 28686329, 32413188
Neural Tube Defects	Associate	35286896
Neuroblastoma	Associate	28422997
Neurodegenerative Diseases	Associate	18714339, 31476771, 32208162
Neurologic Manifestations	Associate	31476771
Neuromuscular Diseases	Associate	22326558, 31309180, 32154989
Neuromuscular Manifestations	Associate	31476771
Neutropenia	Associate	35482673
Neutropenia Nonimmune Chronic Idiopathic Adult	Associate	31841566
Non alcoholic Fatty Liver Disease	Associate	32012908
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	15219508, 25873806
Obesity	Associate	18497734, 28874324
Osteoarthritis	Stimulate	22231515
Osteogenesis Imperfecta	Associate	28802583
Osteolysis	Associate	34680903
Osteoporosis	Associate	18767923, 29405587, 32155994
Osteosarcoma	Associate	30816440, 32235738
Ovarian Diseases	Associate	39595984
Ovarian Neoplasms	Associate	19159301, 21439080, 34995293, 36899893
Overweight	Associate	31857427
Pain	Associate	20130076
Pancreatic Intraductal Neoplasms	Associate	36561231
Pancreatic Neoplasms	Associate	28938416, 36712921
Paroxysmal ventricular fibrillation	Associate	31514951
Pathological Conditions Anatomical	Associate	18714339
Peripheral Nervous System Diseases	Associate	15965218
Polycystic Ovary Syndrome	Associate	26662654
Polyendocrinopathies Autoimmune	Associate	36104080
Polymyalgia Rheumatica	Associate	11876765
Polyneuropathies	Associate	26443318
Pre Eclampsia	Associate	35286896
Prickle1 Related Progressive Myoclonic Epilepsy with Ataxia	Associate	25954030
Progeria	Associate	12714972, 12854972, 15184648, 15268757, 15750600, 15982412, 16186497, 16261260, 16461887, 16645051, 16738054, 16801550, 17360326, 17360355, 17870066 View all (120 more)
Progeroid syndrome neonatal	Associate	17150192, 17870066, 18363904, 19875478, 22065502, 23285253, 23324461, 25324471, 27034136, 28423660, 29047356, 29267953, 29794150, 30109767, 30137533 View all (5 more)
Progressive hearing loss stapes fixation	Associate	11077661
Prostatic Neoplasms	Associate	26469707
Purpura Thrombocytopenic Idiopathic	Associate	33222560
Radiation Injuries	Associate	24285572
Renal Insufficiency Chronic	Associate	31383942
Respiratory Insufficiency	Associate	27199538
Retinal Dystrophies	Associate	20041886, 21945321
Rothmund Thomson Syndrome	Associate	26733286
Sarcoma	Associate	26216294, 32957984
Sarcoma Ewing	Associate	35422060
Sarcopenia	Associate	38090549
Segmentation syndrome 1	Associate	25961132
Sick Sinus Syndrome	Associate	27182706, 30221713
Sjogren's Syndrome	Associate	27835913
Sleep Disorders Circadian Rhythm	Associate	14675861, 33953703
Solitary Fibrous Tumors	Associate	36357104
Spastic Paraplegia Hereditary	Associate	26556829
Specific Language Disorder	Associate	35384599
Spinal Muscular Atrophies of Childhood	Associate	25886484
Squamous Cell Carcinoma of Head and Neck	Associate	32860673
ST Elevation Myocardial Infarction	Associate	33414362
Stiff Skin Syndrome	Associate	19672032
Stomach Diseases	Associate	10517909
Stomach Neoplasms	Associate	10517909, 17007014
Stomach Neoplasms	Inhibit	19144202
Stroke	Associate	17493893, 23360689, 35544069
Subcutaneous Emphysema	Associate	21945321
Sveinsson Chorioretinal Atrophy	Associate	27884249
Syndrome	Associate	22326558, 23849162, 25885670
Systemic carnitine deficiency	Associate	31514951
Tachycardia Atrioventricular Nodal Reentry	Associate	29759522
Tachycardia Paroxysmal	Associate	32062135, 36095892
Tachycardia Supraventricular	Associate	27199538
Tachycardia Ventricular	Associate	19638735, 23912926, 29095976, 32616434, 32972544, 36095892, 36494026
Thromboembolism	Associate	22148005, 23073275, 31788659, 35526016, 40689545
Thyroid Neoplasms	Associate	31841566
Tight skin contracture syndrome lethal	Associate	16297189, 17062639, 23475125, 23597553, 23804595, 29794150
Tooth Injuries	Associate	19236595
Tricuspid Valve Insufficiency	Associate	29047356, 33824984
Undritz Anomaly	Associate	15982412, 29149195
Uterine Cervicitis	Associate	21945321
Vascular Diseases	Associate	23846499, 32727917
Vasculitis	Associate	27835913
Venous Thromboembolism	Associate	23073275
Ventricular Dysfunction Left	Associate	27884249, 30078822, 32666643, 34360639
Ventricular Dysfunction Right	Associate	33824984
Ventricular Fibrillation	Associate	31847799, 32666643, 36494026
Ventricular Outflow Obstruction Left	Associate	28874324
Ventricular Remodeling	Associate	14675861, 21689390, 29386531
Werner Syndrome	Associate	19270485, 22065502, 23257959, 28423660, 29476423, 29581305

LMNA (lamin A/C)