MEN1 (menin 1)

Gene

• Entrez ID: 4221
• Gene name: Menin 1
• Gene symbol: MEN1
• Synonyms (NCBI Gene): MEAI, SCG2
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathw

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs607969	C>G,T	Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs28931612	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs77461664	G>A,C,T	Uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs104894256	A>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104894257	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs104894258	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs104894262	A>T	Pathogenic	Splice donor variant, coding sequence variant, missense variant
rs104894263	G>C	Pathogenic	Missense variant, coding sequence variant
rs104894265	G>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant
rs104894266	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894268	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913034	T>A,G	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs143329068	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs267607234	CC>TT	Pathogenic	Coding sequence variant, missense variant
rs371192390	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs374749001	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs376872829	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs386134245	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386134246	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386134247	C>-,CC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs386134250	T>A,C,G	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, initiator codon variant
rs386134251	GG>-	Pathogenic	Coding sequence variant, frameshift variant
rs386134253	->A,AA	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs386134254	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs386134255	->AATT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386134256	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs386134258	CCCGCTCA>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs386134259	G>A,C,T	Uncertain-significance, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs386134260	G>C	Pathogenic, not-provided	Stop gained, coding sequence variant
rs386134261	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs397515385	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs398124437	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs587776841	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs730882136	->GGGGC	Pathogenic	Coding sequence variant, frameshift variant
rs747851909	C>A	Pathogenic	Coding sequence variant, missense variant
rs750904332	G>A,C,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs767078097	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs772588551	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs778670301	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs778921501	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs786204242	C>T	Pathogenic-likely-pathogenic	Missense variant, initiator codon variant
rs794728614	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728615	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs794728616	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728618	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728622	C>A,T	Pathogenic	Splice donor variant, intron variant
rs794728624	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794728625	C>T	Pathogenic	Intron variant
rs794728627	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728636	->A	Pathogenic	Frameshift variant, coding sequence variant
rs794728637	CCAGCTCGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728638	->A	Pathogenic	Frameshift variant, coding sequence variant
rs794728639	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728640	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs794728641	AGATGTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728647	G>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs794728648	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794728650	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728652	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs794728655	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728656	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794728657	TTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs794728658	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs869025185	CCT>-	Pathogenic	Inframe deletion, coding sequence variant
rs869312167	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs878855191	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs878855192	T>A	Pathogenic	Stop gained, coding sequence variant
rs878855196	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886039413	G>A	Pathogenic	Stop gained, coding sequence variant
rs886039414	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs886039415	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886039416	G>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs886039553	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041213	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886041634	GC>A	Pathogenic	Frameshift variant, coding sequence variant
rs886042035	T>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1057517760	->TGC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1057517902	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518572	C>T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1057518903	C>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1057520733	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057521110	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524571	A>C	Likely-pathogenic	Splice donor variant
rs1060499971	CTC>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs1060499973	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060499976	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1060499984	G>A,C	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1060499987	A>T	Pathogenic	Stop gained, coding sequence variant
rs1060499990	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1060499992	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1060503789	G>A,T	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1064792906	TGAAGCGGGCATAGAGGGCGG>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs1064793167	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793169	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793398	C>T	Likely-pathogenic	Intron variant
rs1064793613	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793672	C>G,T	Pathogenic	Splice acceptor variant
rs1064795635	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307471	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1085307971	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167469	G>A	Pathogenic	Missense variant, coding sequence variant
rs1114167470	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167471	A>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1114167472	T>C	Pathogenic	Splice acceptor variant
rs1114167473	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167474	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1114167478	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167480	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167481	GAAG>AAT	Pathogenic	Coding sequence variant, frameshift variant
rs1114167482	C>T	Pathogenic	Stop gained, coding sequence variant
rs1114167483	->CGCAC	Pathogenic	Coding sequence variant, frameshift variant
rs1114167485	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167486	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167488	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167489	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1114167490	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167491	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1114167492	C>-	Pathogenic	Stop gained, coding sequence variant
rs1114167493	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167494	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1114167495	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167498	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1114167499	T>A	Pathogenic	Stop gained, coding sequence variant
rs1114167502	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1114167503	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167505	C>T	Likely-pathogenic	Splice acceptor variant
rs1114167506	C>AA	Pathogenic	Coding sequence variant, frameshift variant
rs1114167508	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167511	GA>TT	Pathogenic	Stop gained, coding sequence variant
rs1114167515	T>C	Pathogenic	Missense variant, coding sequence variant
rs1114167516	GGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167519	->CATG	Pathogenic	Coding sequence variant, frameshift variant
rs1114167523	CG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167527	A>T	Pathogenic	Stop gained, coding sequence variant
rs1114167532	GTTGATGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167534	->CACC	Pathogenic	Coding sequence variant, frameshift variant
rs1114167538	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1114167540	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167541	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167543	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1187634059	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555164707	G>T	Pathogenic	Coding sequence variant, missense variant
rs1555164946	A>G	Likely-pathogenic	Splice donor variant
rs1555164986	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555165008	CCCGCACATTGCGGTTGCGACAGTGG>-	Likely-pathogenic	Coding sequence variant, inframe indel, stop gained
rs1555165128	A>C	Pathogenic	Coding sequence variant, stop gained
rs1555165256	A>G	Pathogenic	Splice donor variant
rs1555165360	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555165377	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1555165488	->AGCTCCA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555165503	TCAATGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555165565	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555165570	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555165597	G>C,T	Pathogenic	Coding sequence variant, stop gained
rs1555165756	GG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555166365	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555166368	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555166387	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555166435	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555166466	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555166494	->CGGTG	Pathogenic	Coding sequence variant, frameshift variant
rs1555166508	ATGATAGACAGGTCG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1555166567	G>C	Pathogenic	Coding sequence variant, stop gained
rs1555166609	->GCTGG	Pathogenic	Coding sequence variant, frameshift variant
rs1555166681	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555166695	AGGAAAGGAGCACCA>-,AGGAAAGGAGCACCAAGGAAAGGAGCACCA	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs1555166711	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1565642765	T>A,C	Pathogenic	Splice acceptor variant
rs1565644366	G>T	Pathogenic	Coding sequence variant, stop gained
rs1565645563	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1565646772	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565647197	C>T	Pathogenic	Coding sequence variant, stop gained
rs1565647767	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1565648511	G>A	Pathogenic	Coding sequence variant, stop gained
rs1565648656	C>G	Pathogenic	Coding sequence variant, missense variant
rs1565651223	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565651568	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1565652689	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1592640081	->GC	Pathogenic	Frameshift variant, coding sequence variant
rs1592640181	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1592640213	GCAGGTTGGGGATGACATCATTGGCTACTTCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592643178	G>A	Pathogenic	Coding sequence variant, stop gained
rs1592646211	C>T	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant
rs1592646226	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592646831	GTACC>AACCTCTAGGTA	Pathogenic	Coding sequence variant, splice acceptor variant
rs1592647398	C>T	Pathogenic	Coding sequence variant, stop gained
rs1592648765	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592648830	->TGCA	Pathogenic	Frameshift variant, coding sequence variant
rs1592649069	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592649108	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592649598	AGCTCTTAGGGGGGGATGA>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1592649615	C>G,T	Pathogenic	Splice acceptor variant
rs1592650986	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1592651767	G>T	Pathogenic	Coding sequence variant, stop gained
rs1592657785	GGGCCCGATC>AGGGA	Pathogenic	Frameshift variant, coding sequence variant
rs1592658517	->GGGA	Pathogenic	Frameshift variant, coding sequence variant
rs1592659414	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592660057	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592660101	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1592660983	->GC	Pathogenic	Frameshift variant, coding sequence variant
rs1592661082	A>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050813	hsa-miR-17-5p	CLASH	23622248
MIRT049455	hsa-miR-92a-3p	CLASH	23622248
MIRT040940	hsa-miR-18a-3p	CLASH	23622248
MIRT054288	hsa-miR-24-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	22761894
MIRT455061	hsa-miR-3141	PAR-CLIP	23592263
MIRT455060	hsa-miR-4259	PAR-CLIP	23592263
MIRT455059	hsa-miR-589-3p	PAR-CLIP	23592263
MIRT455058	hsa-miR-759	PAR-CLIP	23592263
MIRT455057	hsa-miR-571	PAR-CLIP	23592263
MIRT455056	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT054288	hsa-miR-24-3p	PAR-CLIP	23592263
MIRT455055	hsa-miR-4437	PAR-CLIP	23592263
MIRT455053	hsa-miR-4652-5p	PAR-CLIP	23592263
MIRT455054	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT455052	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT455050	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT455051	hsa-miR-5698	PAR-CLIP	23592263
MIRT455049	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT455048	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT455047	hsa-miR-4525	PAR-CLIP	23592263
MIRT455046	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT455045	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT455044	hsa-miR-4488	PAR-CLIP	23592263
MIRT455043	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT455042	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT455041	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT455040	hsa-miR-4674	PAR-CLIP	23592263
MIRT455039	hsa-miR-1275	PAR-CLIP	23592263
MIRT455038	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT455037	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT455036	hsa-miR-6751-5p	PAR-CLIP	23592263
MIRT455035	hsa-miR-6803-5p	PAR-CLIP	23592263
MIRT455045	hsa-miR-1237-5p	PAR-CLIP	26701625
MIRT455045	hsa-miR-1237-5p	PAR-CLIP	26701625
MIRT455045	hsa-miR-1237-5p	PAR-CLIP	26701625
MIRT455039	hsa-miR-1275	PAR-CLIP	26701625
MIRT455039	hsa-miR-1275	PAR-CLIP	26701625
MIRT455039	hsa-miR-1275	PAR-CLIP	26701625
MIRT455039	hsa-miR-1275	PAR-CLIP	26701625
MIRT054288	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT054288	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT054288	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT054288	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT455056	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT455056	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT455056	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT455061	hsa-miR-3141	PAR-CLIP	26701625
MIRT455061	hsa-miR-3141	PAR-CLIP	26701625
MIRT455061	hsa-miR-3141	PAR-CLIP	26701625
MIRT455060	hsa-miR-4259	PAR-CLIP	26701625
MIRT455060	hsa-miR-4259	PAR-CLIP	26701625
MIRT455060	hsa-miR-4259	PAR-CLIP	26701625
MIRT455060	hsa-miR-4259	PAR-CLIP	26701625
MIRT455055	hsa-miR-4437	PAR-CLIP	26701625
MIRT455055	hsa-miR-4437	PAR-CLIP	26701625
MIRT455055	hsa-miR-4437	PAR-CLIP	26701625
MIRT455055	hsa-miR-4437	PAR-CLIP	26701625
MIRT455044	hsa-miR-4488	PAR-CLIP	26701625
MIRT455044	hsa-miR-4488	PAR-CLIP	26701625
MIRT455044	hsa-miR-4488	PAR-CLIP	26701625
MIRT455047	hsa-miR-4525	PAR-CLIP	26701625
MIRT455047	hsa-miR-4525	PAR-CLIP	26701625
MIRT455047	hsa-miR-4525	PAR-CLIP	26701625
MIRT455047	hsa-miR-4525	PAR-CLIP	26701625
MIRT455053	hsa-miR-4652-5p	PAR-CLIP	26701625
MIRT455053	hsa-miR-4652-5p	PAR-CLIP	26701625
MIRT455053	hsa-miR-4652-5p	PAR-CLIP	26701625
MIRT455053	hsa-miR-4652-5p	PAR-CLIP	26701625
MIRT455038	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT455038	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT455038	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT455038	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT455040	hsa-miR-4674	PAR-CLIP	26701625
MIRT455040	hsa-miR-4674	PAR-CLIP	26701625
MIRT455040	hsa-miR-4674	PAR-CLIP	26701625
MIRT455040	hsa-miR-4674	PAR-CLIP	26701625
MIRT455043	hsa-miR-4697-5p	PAR-CLIP	26701625
MIRT455043	hsa-miR-4697-5p	PAR-CLIP	26701625
MIRT455043	hsa-miR-4697-5p	PAR-CLIP	26701625
MIRT455050	hsa-miR-4723-5p	PAR-CLIP	26701625
MIRT455050	hsa-miR-4723-5p	PAR-CLIP	26701625
MIRT455050	hsa-miR-4723-5p	PAR-CLIP	26701625
MIRT455050	hsa-miR-4723-5p	PAR-CLIP	26701625
MIRT455054	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT455054	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT455054	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT455046	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT455046	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT455046	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT455046	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT455051	hsa-miR-5698	PAR-CLIP	26701625
MIRT455051	hsa-miR-5698	PAR-CLIP	26701625
MIRT455051	hsa-miR-5698	PAR-CLIP	26701625
MIRT455051	hsa-miR-5698	PAR-CLIP	26701625
MIRT455057	hsa-miR-571	PAR-CLIP	26701625
MIRT455057	hsa-miR-571	PAR-CLIP	26701625
MIRT455057	hsa-miR-571	PAR-CLIP	26701625
MIRT455057	hsa-miR-571	PAR-CLIP	26701625
MIRT455059	hsa-miR-589-3p	PAR-CLIP	26701625
MIRT455059	hsa-miR-589-3p	PAR-CLIP	26701625
MIRT455059	hsa-miR-589-3p	PAR-CLIP	26701625
MIRT455059	hsa-miR-589-3p	PAR-CLIP	26701625
MIRT455052	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT455052	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT455052	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT455052	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT455036	hsa-miR-6751-5p	PAR-CLIP	26701625
MIRT455036	hsa-miR-6751-5p	PAR-CLIP	26701625
MIRT455036	hsa-miR-6751-5p	PAR-CLIP	26701625
MIRT455036	hsa-miR-6751-5p	PAR-CLIP	26701625
MIRT455035	hsa-miR-6803-5p	PAR-CLIP	26701625
MIRT455035	hsa-miR-6803-5p	PAR-CLIP	26701625
MIRT455035	hsa-miR-6803-5p	PAR-CLIP	26701625
MIRT455035	hsa-miR-6803-5p	PAR-CLIP	26701625
MIRT455042	hsa-miR-6846-5p	PAR-CLIP	26701625
MIRT455042	hsa-miR-6846-5p	PAR-CLIP	26701625
MIRT455042	hsa-miR-6846-5p	PAR-CLIP	26701625
MIRT455041	hsa-miR-6848-5p	PAR-CLIP	26701625
MIRT455041	hsa-miR-6848-5p	PAR-CLIP	26701625
MIRT455041	hsa-miR-6848-5p	PAR-CLIP	26701625
MIRT455049	hsa-miR-6870-5p	PAR-CLIP	26701625
MIRT455049	hsa-miR-6870-5p	PAR-CLIP	26701625
MIRT455049	hsa-miR-6870-5p	PAR-CLIP	26701625
MIRT455049	hsa-miR-6870-5p	PAR-CLIP	26701625
MIRT455037	hsa-miR-7109-5p	PAR-CLIP	26701625
MIRT455037	hsa-miR-7109-5p	PAR-CLIP	26701625
MIRT455037	hsa-miR-7109-5p	PAR-CLIP	26701625
MIRT455037	hsa-miR-7109-5p	PAR-CLIP	26701625
MIRT455048	hsa-miR-7111-5p	PAR-CLIP	26701625
MIRT455048	hsa-miR-7111-5p	PAR-CLIP	26701625
MIRT455048	hsa-miR-7111-5p	PAR-CLIP	26701625
MIRT455048	hsa-miR-7111-5p	PAR-CLIP	26701625
MIRT455058	hsa-miR-759	PAR-CLIP	26701625
MIRT455058	hsa-miR-759	PAR-CLIP	26701625
MIRT455058	hsa-miR-759	PAR-CLIP	26701625
MIRT455058	hsa-miR-759	PAR-CLIP	26701625
MIRT455061	hsa-miR-3141	PAR-CLIP	23592263
MIRT455060	hsa-miR-4259	PAR-CLIP	23592263
MIRT455059	hsa-miR-589-3p	PAR-CLIP	23592263
MIRT455058	hsa-miR-759	PAR-CLIP	23592263
MIRT455057	hsa-miR-571	PAR-CLIP	23592263
MIRT455056	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT054288	hsa-miR-24-3p	PAR-CLIP	23592263
MIRT455055	hsa-miR-4437	PAR-CLIP	23592263
MIRT455053	hsa-miR-4652-5p	PAR-CLIP	23592263
MIRT455054	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT455052	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT455050	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT455051	hsa-miR-5698	PAR-CLIP	23592263
MIRT455049	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT455048	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT455047	hsa-miR-4525	PAR-CLIP	23592263
MIRT455046	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT455045	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT455044	hsa-miR-4488	PAR-CLIP	23592263
MIRT455043	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT455042	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT455041	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT455040	hsa-miR-4674	PAR-CLIP	23592263
MIRT455039	hsa-miR-1275	PAR-CLIP	23592263
MIRT455038	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT455037	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT455036	hsa-miR-6751-5p	PAR-CLIP	23592263
MIRT455035	hsa-miR-6803-5p	PAR-CLIP	23592263
MIRT1142911	hsa-miR-1207-5p	CLIP-seq
MIRT1142912	hsa-miR-1587	CLIP-seq
MIRT1142913	hsa-miR-24	CLIP-seq
MIRT1142914	hsa-miR-4260	CLIP-seq
MIRT1142915	hsa-miR-4270	CLIP-seq
MIRT1142916	hsa-miR-4300	CLIP-seq
MIRT1142917	hsa-miR-4320	CLIP-seq
MIRT1142918	hsa-miR-4441	CLIP-seq
MIRT1142919	hsa-miR-4453	CLIP-seq
MIRT1142920	hsa-miR-4492	CLIP-seq
MIRT1142921	hsa-miR-4498	CLIP-seq
MIRT1142922	hsa-miR-4505	CLIP-seq
MIRT1142923	hsa-miR-4538	CLIP-seq
MIRT1142924	hsa-miR-4656	CLIP-seq
MIRT1142925	hsa-miR-4670-3p	CLIP-seq
MIRT1142926	hsa-miR-4675	CLIP-seq
MIRT1142927	hsa-miR-4731-5p	CLIP-seq
MIRT1142928	hsa-miR-4741	CLIP-seq
MIRT1142929	hsa-miR-4763-3p	CLIP-seq
MIRT1142930	hsa-miR-625	CLIP-seq
MIRT1142931	hsa-miR-637	CLIP-seq
MIRT1142932	hsa-miR-762	CLIP-seq
MIRT1142933	hsa-miR-920	CLIP-seq
MIRT1142911	hsa-miR-1207-5p	CLIP-seq
MIRT1142934	hsa-miR-1286	CLIP-seq
MIRT1142935	hsa-miR-1321	CLIP-seq
MIRT1142936	hsa-miR-1914	CLIP-seq
MIRT1142937	hsa-miR-3135b	CLIP-seq
MIRT1142938	hsa-miR-3169	CLIP-seq
MIRT1142939	hsa-miR-3194-3p	CLIP-seq
MIRT1142940	hsa-miR-3202	CLIP-seq
MIRT1142941	hsa-miR-3545-5p	CLIP-seq
MIRT1142942	hsa-miR-3616-5p	CLIP-seq
MIRT1142943	hsa-miR-3647-5p	CLIP-seq
MIRT1142944	hsa-miR-3649	CLIP-seq
MIRT1142945	hsa-miR-3652	CLIP-seq
MIRT1142946	hsa-miR-3688-3p	CLIP-seq
MIRT1142947	hsa-miR-3689d	CLIP-seq
MIRT1142948	hsa-miR-370	CLIP-seq
MIRT1142914	hsa-miR-4260	CLIP-seq
MIRT1142915	hsa-miR-4270	CLIP-seq
MIRT1142916	hsa-miR-4300	CLIP-seq
MIRT1142917	hsa-miR-4320	CLIP-seq
MIRT1142949	hsa-miR-4430	CLIP-seq
MIRT1142918	hsa-miR-4441	CLIP-seq
MIRT1142919	hsa-miR-4453	CLIP-seq
MIRT1142950	hsa-miR-4454	CLIP-seq
MIRT1142951	hsa-miR-4481	CLIP-seq
MIRT1142920	hsa-miR-4492	CLIP-seq
MIRT1142921	hsa-miR-4498	CLIP-seq
MIRT1142952	hsa-miR-4532	CLIP-seq
MIRT1142923	hsa-miR-4538	CLIP-seq
MIRT1142953	hsa-miR-4640-5p	CLIP-seq
MIRT1142954	hsa-miR-4648	CLIP-seq
MIRT1142924	hsa-miR-4656	CLIP-seq
MIRT1142925	hsa-miR-4670-3p	CLIP-seq
MIRT1142955	hsa-miR-4688	CLIP-seq
MIRT1142956	hsa-miR-4698	CLIP-seq
MIRT1142957	hsa-miR-4726-5p	CLIP-seq
MIRT1142958	hsa-miR-4739	CLIP-seq
MIRT1142959	hsa-miR-4740-5p	CLIP-seq
MIRT1142960	hsa-miR-4745-5p	CLIP-seq
MIRT1142961	hsa-miR-4756-5p	CLIP-seq
MIRT1142962	hsa-miR-4758-5p	CLIP-seq
MIRT1142929	hsa-miR-4763-3p	CLIP-seq
MIRT1142963	hsa-miR-4795-5p	CLIP-seq
MIRT1142964	hsa-miR-492	CLIP-seq
MIRT1142965	hsa-miR-495	CLIP-seq
MIRT1142966	hsa-miR-573	CLIP-seq
MIRT1142967	hsa-miR-630	CLIP-seq
MIRT1142968	hsa-miR-645	CLIP-seq
MIRT1142969	hsa-miR-664	CLIP-seq
MIRT1142932	hsa-miR-762	CLIP-seq
MIRT1142933	hsa-miR-920	CLIP-seq
MIRT1142970	hsa-miR-1225-5p	CLIP-seq
MIRT1142934	hsa-miR-1286	CLIP-seq
MIRT1142971	hsa-miR-1299	CLIP-seq
MIRT1142972	hsa-miR-296-3p	CLIP-seq
MIRT1142973	hsa-miR-3132	CLIP-seq
MIRT1142974	hsa-miR-3159	CLIP-seq
MIRT1142975	hsa-miR-3167	CLIP-seq
MIRT1142938	hsa-miR-3169	CLIP-seq
MIRT1142914	hsa-miR-4260	CLIP-seq
MIRT1142976	hsa-miR-4316	CLIP-seq
MIRT1142977	hsa-miR-4451	CLIP-seq
MIRT1142978	hsa-miR-4494	CLIP-seq
MIRT1142979	hsa-miR-4496	CLIP-seq
MIRT1142925	hsa-miR-4670-3p	CLIP-seq
MIRT1142980	hsa-miR-4710	CLIP-seq
MIRT1142959	hsa-miR-4740-5p	CLIP-seq
MIRT1142981	hsa-miR-4782-5p	CLIP-seq
MIRT1142982	hsa-miR-516b	CLIP-seq
MIRT1142983	hsa-miR-876-5p	CLIP-seq
MIRT1142974	hsa-miR-3159	CLIP-seq
MIRT1142975	hsa-miR-3167	CLIP-seq
MIRT1142917	hsa-miR-4320	CLIP-seq
MIRT1142922	hsa-miR-4505	CLIP-seq
MIRT2040675	hsa-miR-4743	CLIP-seq
MIRT2040676	hsa-miR-587	CLIP-seq
MIRT1142983	hsa-miR-876-5p	CLIP-seq
MIRT1142913	hsa-miR-24	CLIP-seq
MIRT2270392	hsa-miR-1233	CLIP-seq
MIRT1142934	hsa-miR-1286	CLIP-seq
MIRT1142971	hsa-miR-1299	CLIP-seq
MIRT2270393	hsa-miR-1908	CLIP-seq
MIRT1142913	hsa-miR-24	CLIP-seq
MIRT1142937	hsa-miR-3135b	CLIP-seq
MIRT1142974	hsa-miR-3159	CLIP-seq
MIRT2270394	hsa-miR-3160-3p	CLIP-seq
MIRT1142975	hsa-miR-3167	CLIP-seq
MIRT2270395	hsa-miR-3180	CLIP-seq
MIRT2270396	hsa-miR-3180-3p	CLIP-seq
MIRT2270397	hsa-miR-3192	CLIP-seq
MIRT2270398	hsa-miR-3196	CLIP-seq
MIRT1142941	hsa-miR-3545-5p	CLIP-seq
MIRT1142942	hsa-miR-3616-5p	CLIP-seq
MIRT1142943	hsa-miR-3647-5p	CLIP-seq
MIRT2270399	hsa-miR-3664-3p	CLIP-seq
MIRT2270400	hsa-miR-3929	CLIP-seq
MIRT2270401	hsa-miR-4283	CLIP-seq
MIRT2270402	hsa-miR-4292	CLIP-seq
MIRT2270403	hsa-miR-4303	CLIP-seq
MIRT2270404	hsa-miR-4314	CLIP-seq
MIRT1142917	hsa-miR-4320	CLIP-seq
MIRT2270405	hsa-miR-4419b	CLIP-seq
MIRT2270406	hsa-miR-4434	CLIP-seq
MIRT2270407	hsa-miR-4478	CLIP-seq
MIRT1142951	hsa-miR-4481	CLIP-seq
MIRT2270408	hsa-miR-4487	CLIP-seq
MIRT1142922	hsa-miR-4505	CLIP-seq
MIRT2270409	hsa-miR-4508	CLIP-seq
MIRT2270410	hsa-miR-4516	CLIP-seq
MIRT2270411	hsa-miR-4531	CLIP-seq
MIRT2270412	hsa-miR-4646-5p	CLIP-seq
MIRT1142924	hsa-miR-4656	CLIP-seq
MIRT1142955	hsa-miR-4688	CLIP-seq
MIRT1142927	hsa-miR-4731-5p	CLIP-seq
MIRT1142960	hsa-miR-4745-5p	CLIP-seq
MIRT1142962	hsa-miR-4758-5p	CLIP-seq
MIRT1142981	hsa-miR-4782-5p	CLIP-seq
MIRT1142963	hsa-miR-4795-5p	CLIP-seq
MIRT1142982	hsa-miR-516b	CLIP-seq
MIRT2270413	hsa-miR-558	CLIP-seq
MIRT1142966	hsa-miR-573	CLIP-seq
MIRT1142931	hsa-miR-637	CLIP-seq
MIRT2270414	hsa-miR-663	CLIP-seq
MIRT2270415	hsa-miR-744	CLIP-seq
MIRT2270416	hsa-miR-873	CLIP-seq
MIRT1142983	hsa-miR-876-5p	CLIP-seq
MIRT1142937	hsa-miR-3135b	CLIP-seq
MIRT1142944	hsa-miR-3649	CLIP-seq
MIRT1142945	hsa-miR-3652	CLIP-seq
MIRT1142947	hsa-miR-3689d	CLIP-seq
MIRT1142949	hsa-miR-4430	CLIP-seq
MIRT1142920	hsa-miR-4492	CLIP-seq
MIRT1142921	hsa-miR-4498	CLIP-seq
MIRT1142952	hsa-miR-4532	CLIP-seq
MIRT1142954	hsa-miR-4648	CLIP-seq
MIRT1142932	hsa-miR-762	CLIP-seq
MIRT2270392	hsa-miR-1233	CLIP-seq
MIRT2569591	hsa-miR-125a-5p	CLIP-seq
MIRT2569592	hsa-miR-125b	CLIP-seq
MIRT2569593	hsa-miR-149	CLIP-seq
MIRT2569594	hsa-miR-151-5p	CLIP-seq
MIRT2569595	hsa-miR-151b	CLIP-seq
MIRT2569596	hsa-miR-28-5p	CLIP-seq
MIRT2569597	hsa-miR-3064-5p	CLIP-seq
MIRT2569598	hsa-miR-3139	CLIP-seq
MIRT2270397	hsa-miR-3192	CLIP-seq
MIRT2569599	hsa-miR-320e	CLIP-seq
MIRT2569600	hsa-miR-3689a-3p	CLIP-seq
MIRT2569601	hsa-miR-3689c	CLIP-seq
MIRT2569602	hsa-miR-4319	CLIP-seq
MIRT1142919	hsa-miR-4453	CLIP-seq
MIRT1142920	hsa-miR-4492	CLIP-seq
MIRT1142921	hsa-miR-4498	CLIP-seq
MIRT1142922	hsa-miR-4505	CLIP-seq
MIRT2569603	hsa-miR-4527	CLIP-seq
MIRT1142923	hsa-miR-4538	CLIP-seq
MIRT2569604	hsa-miR-4728-5p	CLIP-seq
MIRT2569605	hsa-miR-4792	CLIP-seq
MIRT2569606	hsa-miR-4794	CLIP-seq
MIRT2569607	hsa-miR-708	CLIP-seq
MIRT2569608	hsa-miR-760	CLIP-seq
MIRT1142932	hsa-miR-762	CLIP-seq
MIRT2569609	hsa-miR-765	CLIP-seq
MIRT2270392	hsa-miR-1233	CLIP-seq
MIRT2569591	hsa-miR-125a-5p	CLIP-seq
MIRT2569592	hsa-miR-125b	CLIP-seq
MIRT2270397	hsa-miR-3192	CLIP-seq
MIRT2569599	hsa-miR-320e	CLIP-seq
MIRT2569600	hsa-miR-3689a-3p	CLIP-seq
MIRT2569601	hsa-miR-3689c	CLIP-seq
MIRT2569602	hsa-miR-4319	CLIP-seq
MIRT2569604	hsa-miR-4728-5p	CLIP-seq
MIRT2569609	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	9989505, 12837246, 22327296, 23784080
GO:0000165	Process	MAPK cascade	IDA	12226747
GO:0000400	Function	Four-way junction DNA binding	IDA	15331604
GO:0000403	Function	Y-form DNA binding	IBA
GO:0000403	Function	Y-form DNA binding	IDA	15331604
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	12837246, 12874027
GO:0000976	Function	Transcription cis-regulatory region binding	IBA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	20484083
GO:0001933	Process	Negative regulation of protein phosphorylation	IDA	12226747
GO:0002076	Process	Osteoblast development	IGI	15563473
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003690	Function	Double-stranded DNA binding	IDA	15331604
GO:0005515	Function	Protein binding	IPI	9989505, 11302744, 11500056, 11526476, 12509449, 12874027, 14508515, 14992727, 15199122, 15960975, 16951149, 20484083, 22327296, 22936661, 23784080, 24981860, 25305204, 27705803, 35512704
GO:0005634	Component	Nucleus	IDA	9465067, 14508515, 15199122, 15640349, 17500065
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	11500056
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	IDA	14508515
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	NAS	12874027
GO:0006325	Process	Chromatin organization	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006974	Process	DNA damage response	IDA	16690369
GO:0008285	Process	Negative regulation of cell population proliferation	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	15331604
GO:0009411	Process	Response to UV	IDA	16690369
GO:0010332	Process	Response to gamma radiation	IDA	12874027
GO:0016363	Component	Nuclear matrix	IDA	12874027
GO:0017053	Component	Transcription repressor complex	IPI	22327296
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	11274402
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	20484083
GO:0032154	Component	Cleavage furrow	IDA	14508515
GO:0032991	Component	Protein-containing complex	IDA	15199122
GO:0035097	Component	Histone methyltransferase complex	IBA
GO:0035097	Component	Histone methyltransferase complex	IDA	17500065
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IDA	11526476, 12226747
GO:0044665	Component	MLL1/2 complex	IPI	23508102
GO:0045064	Process	T-helper 2 cell differentiation	IDA	20484083
GO:0045668	Process	Negative regulation of osteoblast differentiation	IGI	15563473
GO:0045736	Process	Negative regulation of cyclin-dependent protein serine/threonine kinase activity	IMP	15640349
GO:0045786	Process	Negative regulation of cell cycle	IBA
GO:0045786	Process	Negative regulation of cell cycle	IDA	15331604
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IMP	14992727
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12226747
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	15199122
GO:0046329	Process	Negative regulation of JNK cascade	IDA	12226747
GO:0051219	Function	Phosphoprotein binding	IPI	14992727
GO:0070412	Function	R-SMAD binding	IPI	11274402
GO:0071339	Component	MLL1 complex	IPI	23508102

Other IDs

• MIM: 613733
• HGNC: 7010
• e!Ensembl: ENSG00000133895

Protein

• UniProt ID: O00255
• Protein name: Menin
• Protein function: Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase express
• PDB: 3U84, 3U85, 3U86, 3U88, 4GPQ, 4GQ3, 4GQ4, 4GQ6, 4I80, 4OG3, 4OG4, 4OG5, 4OG6, 4OG7, 4OG8, 4X5Y, 4X5Z, 5DB0, 5DB1, 5DB2, 5DB3, 5DD9, 5DDA, 5DDB, 5DDC, 5DDD, 5DDE, 5DDF, 6B41, 6BXH, 6BXY, 6BY8, 6E1A, 6O5I, 6OPJ, 6PKC, 6S2K, 6WNH, 7M4T, 7O9T, 7O9X, 7O9Z, 7OA9, 7UJ4, 8E90, 8GPN, 8IG0, 8VA5, 8VA6, 9C92, 9C93
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05053	Menin	1 → 516	Menin	Family
  PF05053	Menin	526 → 613	Menin	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPE
  LTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKK
  VSDVIWNSLSRSYFKDRAHIQSLFSFITGWSPVGTKLDSSGVAFAVVGACQALGLRDVHL
  ALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKME
  VAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGR
  PDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCR
  EDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLR
  FYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEA
  REGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTA
  QVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTP
  SDYTLSFLKRQRKGL

• Sequence length: 615

Pathways

KEGG:

Cushing syndrome
Transcriptional misregulation in cancer

Reactome:

Formation of the beta-catenin:TCF transactivating complex
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Deactivation of the beta-catenin transactivating complex
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
RHO GTPases activate IQGAPs
Post-translational protein phosphorylation

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Adrenocortical adenoma	Pathogenic	rs121913035	RCV000018178	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angiofibroma, somatic	Pathogenic	rs121913034, rs267607234	RCV000018174 RCV000018175	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ependymoma	Pathogenic	rs1555165565	RCV000577839	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Likely pathogenic; Pathogenic	rs794728654, rs104894261	RCV006436693 RCV006436388	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs398124435, rs398124437, rs2136092832, rs2136118927, rs2136118998, rs2136119153, rs2136188431, rs2136120898, rs2136134076, rs2136197117, rs2136101566, rs2136083128, rs2136117686, rs2497157870, rs1341908127, rs2497263939, rs794728614, rs2136154163, rs2497155994, rs2136148225, rs2136154828, rs2497224766, rs730882136, rs2136142487, rs2497206716, rs2136194414, rs2497175204, rs1942013583, rs2497286682, rs886041214, rs2497106547, rs2497106492, rs1592640846, rs1312374123, rs2497121557, rs2497161656, rs748102589, rs2497104394, rs2497130650, rs2497124189, rs1555164946, rs2497111070, rs1941501393, rs1555166567, rs2497159427, rs2497292377, rs786204242, rs2136101497, rs2136153753, rs2497265977, rs1114167491, rs1555166435, rs794728631, rs794728630, rs761695866, rs767319284, rs794728659, rs764570645, rs794728654, rs104894264, rs794728658, rs794728626, rs794728625, rs794728652, rs794728624, rs794728622, rs794728640, rs104894257, rs794728650, rs376872829, rs794728618, rs794728657, rs794728647, rs794728639, rs794728656, rs794728616, rs794728615, rs863224527, rs863224526, rs864622615, rs1565645563, rs2136178004, rs2497278194, rs886039421, rs886039420, rs886039418, rs386134247, rs886039416, rs886039415, rs886039414, rs886039413, rs886041213, rs774800736, rs775922507, rs2497123058, rs2497255851, rs2497219158, rs2136194342, rs2497159527, rs2497106696, rs397515385, rs104894258, rs869025185, rs104894259, rs104894261, rs104894266, rs104894267, rs587776841, rs104894263, rs863223311, rs1060499976, rs2497194043, rs2497160047, rs2497144452, rs2497105341, rs2497271798, rs1592657892, rs2497204544, rs1057518572, rs1057521110, rs794728648, rs1057520733, rs1060499974, rs750904332, rs1060499973, rs778670301, rs1060499992, rs386134253, rs1555166609, rs772588551, rs1064793169, rs1060503789, rs1064793167, rs1064793672, rs1085307971, rs1085307471, rs1555163136, rs1114167517, rs1114167510, rs1114167501, rs1114167496, rs1114167514, rs1114167522, rs1114167476, rs1114167536, rs1114167500, rs1114167531, rs1114167509, rs1114167520, rs1114167528, rs1114167477, rs1114167533, rs1114167539, rs1114167526, rs1114167542, rs1114167524, rs1114167513, rs1060499984, rs1114167471, rs1114167473, rs767078097, rs1114167489, rs1114167482, rs1114167480, rs1114167483, rs1114167506, rs1114167508, rs1114167541, rs1114167469, rs1114167495, rs1114167498, rs1114167493, rs1114167505, rs1114167472, rs1114167532, rs1114167534, rs1114167499, rs1114167519, rs1114167470, rs1114167503, rs1114167494, rs886042035, rs1114167511, rs1114167481, rs1114167540, rs1114167515, rs1114167492, rs1114167478, rs1114167512, rs1114167516, rs1114167527, rs1114167490, rs1114167486, rs1114167485, rs1555166695, rs1114167523, rs386134250, rs794728660, rs1555165128, rs1555166387, rs386134249, rs386134260, rs1555164270, rs1555165756, rs1555163124, rs1565648547, rs1565651223, rs1565648656, rs1565644366, rs1592630079, rs1592633463, rs1592637440, rs1592646765, rs1187634059, rs1592649108, rs1592660101, rs1592631908, rs1592636161, rs1592640081, rs1592640213, rs1592643178, rs1592646226, rs1592649069, rs1555165597, rs1592650986, rs1592660983, rs1592661082, rs1060499986, rs1592646831, rs1592649615, rs1941625647, rs1941861451, rs1941556077, rs1941975256	RCV000491855 RCV000491428 RCV002384547 RCV004639612 RCV002319708 RCV004945106 RCV003382568 RCV002372824 RCV002423132 RCV002361298 RCV002256873 RCV002388935 RCV005375075 RCV002323032 RCV002320661 RCV002457107 RCV002455181 RCV002349474 RCV002335054 RCV002364364 RCV002344651 RCV002344382 RCV002415705 RCV002378087 RCV002378030 RCV002385283 RCV002376468 RCV002400806 RCV002376067 RCV002392007 RCV002405898 RCV002405929 RCV002401585 RCV002391727 RCV002397070 RCV002403744 RCV002396577 RCV002398894 RCV002381146 RCV002394446 RCV002398758 RCV002400951 RCV002414548 RCV002448098 RCV002455452 RCV002435647 RCV002435652 RCV002372056 RCV004641963 RCV005601983 RCV005601984 RCV005675106 RCV005601985 RCV005601997 RCV000491870 RCV000491042 RCV002399657 RCV001012050 RCV000491410 RCV002381592 RCV004020194 RCV005365106 RCV001017331 RCV000491119 RCV002408796 RCV002412118 RCV000491344 RCV002362934 RCV000491752 RCV006406656 RCV003165391 RCV000491572 RCV000492009 RCV000491280 RCV000491814 RCV000491671 RCV005672333 RCV000491203 RCV000491222 RCV000491766 RCV000490934 RCV002354582 RCV003172098 RCV003171364 RCV003176790 RCV005672349 RCV000490970 RCV004943827 RCV005600882 RCV005638479 RCV000491535 RCV000490921 RCV002436089 RCV000491230 RCV000490981 RCV003288355 RCV003288358 RCV003288366 RCV003384126 RCV004943033 RCV004943087 RCV004943097 RCV004636796 RCV000491332 RCV005659848 RCV000491660 RCV004018639 RCV000491431 RCV000491298 RCV000129526 RCV000491114 RCV000491226 RCV000490854 RCV002381254 RCV002426511 RCV004943274 RCV004522670 RCV004522679 RCV004522700 RCV004522715 RCV004522720 RCV004522731 RCV001018907 RCV004943833 RCV000491482 RCV002411313 RCV000491295 RCV000492010 RCV000568673 RCV001011173 RCV002451060 RCV006386835 RCV002418346 RCV002329011 RCV000491064 RCV000491793 RCV005672384 RCV001022519 RCV002367666 RCV005372328 RCV000492030 RCV000491841 RCV000491205 RCV000491174 RCV000491916 RCV000490847 RCV000491440 RCV000491148 RCV000491271 RCV000492019 RCV000491754 RCV000492006 RCV000491801 RCV000491105 RCV000491702 RCV000491667 RCV000491108 RCV000491198 RCV000491726 RCV000491544 RCV000491697 RCV000491151 RCV000491633 RCV000491380 RCV000491871 RCV000491208 RCV000491157 RCV000491822 RCV000490962 RCV000491036 RCV000491393 RCV000491485 RCV000491102 RCV000491495 RCV000490858 RCV000491619 RCV000491775 RCV000492022 RCV000490972 RCV000490992 RCV000490857 RCV000491420 RCV000491529 RCV000491531 RCV000491474 RCV000491559 RCV000491703 RCV000491507 RCV000491904 RCV000490885 RCV000491441 RCV000491191 RCV000491657 RCV000491827 RCV000490828 RCV000491708 RCV000491802 RCV000491402 RCV000491135 RCV000491390 RCV000490912 RCV000491674 RCV000491464 RCV000492040 RCV000491351 RCV000491599 RCV000491928 RCV000491567 RCV003343939 RCV002376942 RCV002455979 RCV000491986 RCV000491918 RCV002371793 RCV002377015 RCV002350189 RCV000565284 RCV000571203 RCV002362604 RCV002448939 RCV002404747 RCV005659962 RCV002352222 RCV002334355 RCV002370009 RCV006387016 RCV002390646 RCV004028269 RCV004028709 RCV002427053 RCV002372308 RCV004944156 RCV002409331 RCV001011983 RCV001011030 RCV001010010 RCV001017302 RCV001017005 RCV001018879 RCV001026184 RCV001025511 RCV001024521 RCV001021871 RCV001019781 RCV001011032 RCV001027323 RCV001025404 RCV002346250 RCV002348477 RCV003380824 RCV004944896 RCV002393488 RCV002327581 RCV002327616	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperparathyroidism 1	Pathogenic	rs863223311	RCV000018187	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipoma, somatic	Pathogenic	rs587776841	RCV000018173	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung carcinoid tumor	Pathogenic	rs767319284	RCV000018171	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MEN1-related disorder	Pathogenic	rs104894266, rs1555165128	RCV004748527 RCV004722849	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple endocrine neoplasia	Pathogenic	rs1114167489	RCV003330850	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple endocrine neoplasia, type 1	Likely pathogenic; Pathogenic	rs758846538, rs398124435, rs398124437, rs1555166664, rs1259681826, rs2136189816, rs2136094253, rs2136101303, rs2136141530, rs2136084930, rs2136089217, rs2136092746, rs2136092832, rs2136094331, rs794728629, rs2136111335, rs2136117722, rs2136118927, rs2136118998, rs2136119153, rs386134260, rs2136129908, rs2136141104, rs2136156268, rs2136158237, rs2136187018, rs2136187161, rs2136188216, rs2136188431, rs2136193574, rs2136197117, rs2136110242, rs2136101131, rs1555165256, rs2136081113, rs2136148702, rs2136129231, rs2136120898, rs2136192730, rs2136092552, rs1057518572, rs2136134076, rs2136153753, rs2136181049, rs2136089949, rs1592643488, rs869312167, rs2136081238, rs2136102861, rs2136130282, rs2136101566, rs2136184555, rs2136083128, rs1555165094, rs2136154587, rs1565648789, rs386134254, rs2136186754, rs2136117686, rs863223311, rs2497263939, rs794728614, rs2497224766, rs730882136, rs2136194414, rs2497175204, rs1592640846, rs1312374123, rs2497121557, rs748102589, rs2497159427, rs786204242, rs2497176019, rs2136101497, rs2136079024, rs2497129075, rs757179911, rs2497187115, rs2497221294, rs1114167515, rs2497265977, rs2136186060, rs1114167491, rs2497292377, rs1941831929, rs1555166435, rs2136156789, rs794728631, rs794728630, rs761695866, rs767319284, rs794728659, rs764570645, rs794728654, rs104894264, rs794728625, rs794728624, rs794728622, rs794728621, rs794728640, rs104894257, rs794728650, rs376872829, rs794728657, rs794728647, rs794728639, rs794728616, rs794728615, rs2497220136, rs2497280728, rs2497158517, rs753942853, rs2497129863, rs1592647281, rs2497255432, rs2497202890, rs2497276406, rs2497257786, rs2497272005, rs2497278307, rs863224527, rs863224526, rs2497106753, rs2497142477, rs2136078405, rs2497258661, rs2497289542, rs1193762201, rs2497187851, rs2497274181, rs2497145399, rs2497188705, rs368619946, rs2497282682, rs864622617, rs864622615, rs878855198, rs878855196, rs878855192, rs878855191, rs2136178004, rs886039421, rs886039419, rs886039418, rs386134247, rs886039416, rs886039415, rs886039414, rs886039553, rs886039413, rs886041213, rs886041214, rs886042035, rs2497145649, rs2136178143, rs774800736, rs1565652770, rs2497127636, rs2497219158, rs2497141018, rs2497172291, rs2497194322, rs2136194342, rs1941726727, rs2497176367, rs1411642835, rs2497140542, rs2497144069, rs2497206877, rs1941619859, rs2136109022, rs2497159527, rs2497171722, rs2497175277, rs377461506, rs2497260975, rs1592659770, rs2497276811, rs2497187010, rs1592660695, rs2497127005, rs2497132180, rs2497106696, rs2497227066, rs2497261165, rs2497290026, rs2497174269, rs1114167472, rs2497257517, rs2497258056, rs2497104441, rs2497220989, rs2497203524, rs2497107321, rs1555165756, rs863224810, rs104894256, rs397515385, rs104894258, rs1555164986, rs869025185, rs104894259, rs104894260, rs104894261, rs28931612, rs104894266, rs104894267, rs587776841, rs104894262, rs104894263, rs1941851693, rs104894265, rs760199250, rs1060499976, rs2497194043, rs2497143876, rs2497144452, rs1592657892, rs2497204544, rs2497226943, rs2497229814, rs2136148788, rs1555164115, rs2136132542, rs1057517902, rs1057521110, rs1057521111, rs794728648, rs1057520733, rs1060499974, rs750904332, rs1060499973, rs778670301, rs1060499991, rs1060499986, rs386134259, rs1060499992, rs1555166494, rs386134253, rs1555163780, rs1060499981, rs2071312, rs1555166609, rs772588551, rs1060499987, rs1060499990, rs1555163591, rs1060503789, rs1064793167, rs1064793672, rs1064793613, rs1555166711, rs1085307471, rs1114167510, rs1114167501, rs1114167514, rs1114167536, rs1114167531, rs1114167528, rs1114167542, rs1114167524, rs1114167513, rs1060499984, rs767078097, rs1114167489, rs1114167482, rs1114167483, rs1114167508, rs1114167469, rs1114167498, rs794728652, rs1114167499, rs1114167519, rs1114167527, rs1114167486, rs1555166695, rs1114167523, rs386134250, rs1555165128, rs1555166387, rs1555165488, rs972128957, rs1555165377, rs386134245, rs386134246, rs386134249, rs386134251, rs386134255, rs386134256, rs386134258, rs386134261, rs1555164270, rs1555165503, rs778921501, rs141679530, rs1555163883, rs1555165809, rs1555166466, rs775922507, rs1555166368, rs1555164430, rs1555165485, rs1555166567, rs1555163646, rs776561706, rs1555166681, rs1555165360, rs1555166365, rs1555164707, rs1555164946, rs1555164184, rs1565634591, rs1565640081, rs1565635941, rs1565642765, rs1565647767, rs1565648547, rs1565651223, rs1565651568, rs1565645563, rs1565647197, rs1565648656, rs794728627, rs1565644366, rs1565646772, rs1592630079, rs1592633378, rs1592633463, rs1592637081, rs1592637440, rs1592637455, rs1592646765, rs1187634059, rs1592647398, rs1592648765, rs1592648830, rs1592649108, rs1592651767, rs1592657785, rs1592660101, rs1565652689, rs1592634740, rs1592649598, rs1592649615, rs1592658517, rs1592640181, rs1592631908, rs1592636161, rs1592643178, rs1592649069, rs1941501683, rs1941615895, rs1941625647, rs1941850919, rs1941861451, rs1941994887, rs1941733228, rs1941598294, rs1064793168, rs1941522995, rs386833403, rs1941531859, rs1941550964, rs1941864588, rs1941982919, rs1941556077, rs1941607846, rs1941717148, rs1941794175, rs1941529928, rs1941604532, rs1941624571, rs1941603016, rs1941975256, rs1941661404, rs1942027113, rs1941723156	RCV001323222 RCV000318762 RCV001382549 RCV001340367 RCV001368588 RCV001374378 RCV001377991 RCV001379321 RCV001378938 RCV001384744 RCV001381741 RCV001386330 RCV001383288 RCV001386127 RCV001390118 RCV001382783 RCV001385000 RCV001382910 RCV001382548 RCV001380466 RCV001382417 RCV001385369 RCV001387835 RCV001384988 RCV001385039 RCV001387770 RCV001384977 RCV001381751 RCV001390533 RCV001384373 RCV001383274 RCV001532962 RCV001869478 RCV001926059 RCV001881459 RCV001894281 RCV001872787 RCV001917452 RCV002031634 RCV001999316 RCV001910810 RCV002000024 RCV002000025 RCV002037784 RCV001916061 RCV001873118 RCV001960715 RCV002002502 RCV001939358 RCV001951114 RCV001948215 RCV002043184 RCV001972735 RCV001956107 RCV001963123 RCV001996735 RCV001979712 RCV001973475 RCV003517356 RCV002223017 RCV002244089 RCV002245308 RCV003099486 RCV003517379 RCV005096760 RCV000161945 RCV003094838 RCV005601905 RCV005097725 RCV004796728 RCV003095215 RCV003517412 RCV005098143 RCV000168423 RCV002569404 RCV002574715 RCV003062399 RCV003062402 RCV003062404 RCV003037406 RCV003058326 RCV003062405 RCV003062407 RCV003062408 RCV003062410 RCV003058327 RCV003058328 RCV003084888 RCV003084889 RCV003110752 RCV000542312 RCV001852315 RCV001174576 RCV000228926 RCV001382418 RCV000540660 RCV000632087 RCV000812559 RCV001044491 RCV000205749 RCV000461795 RCV000709159 RCV000230442 RCV000018163 RCV000632134 RCV000659844 RCV000551917 RCV000018160 RCV000551465 RCV000018159 RCV000632104 RCV000474533 RCV000538512 RCV002736767 RCV002736426 RCV002795935 RCV002796919 RCV002811383 RCV002820945 RCV002806707 RCV002797049 RCV002815912 RCV002828881 RCV002872250 RCV002889811 RCV000199920 RCV000198067 RCV003001978 RCV003005580 RCV003028068 RCV003013777 RCV003033376 RCV003023285 RCV003032284 RCV003029164 RCV003029269 RCV003029869 RCV003047625 RCV003040679 RCV000203927 RCV000205609 RCV000227993 RCV000234599 RCV000232633 RCV000232425 RCV000229514 RCV005636856 RCV002518753 RCV001198769 RCV005090296 RCV000714231 RCV000632105 RCV001235431 RCV001224068 RCV000632106 RCV001244528 RCV000548407 RCV001046917 RCV005090323 RCV003233029 RCV003233049 RCV003233050 RCV003233051 RCV005602033 RCV003485895 RCV003470101 RCV003450206 RCV003517532 RCV003517957 RCV003517557 RCV003517588 RCV003517904 RCV003517928 RCV003517929 RCV003518006 RCV003518167 RCV003518531 RCV003518507 RCV003516821 RCV003518777 RCV003518778 RCV003518779 RCV003518780 RCV003518781 RCV003518782 RCV003518784 RCV003518786 RCV003518787 RCV003516816 RCV003516916 RCV003517090 RCV003517741 RCV003517643 RCV003631507 RCV003631631 RCV003631698 RCV003631643 RCV003631817 RCV003631806 RCV003632115 RCV003632044 RCV003632029 RCV003632120 RCV003632237 RCV003632279 RCV003632189 RCV003632218 RCV003632740 RCV003842947 RCV003848823 RCV000018157 RCV000018161 RCV000018162 RCV000509058 RCV000018165 RCV000018166 RCV000018167 RCV000018168 RCV000817082 RCV000018170 RCV000018172 RCV000206170 RCV000018177 RCV000018179 RCV000018182 RCV000018183 RCV000018185 RCV003517126 RCV000018188 RCV000018190 RCV003988523 RCV004018363 RCV004588548 RCV005249682 RCV004805645 RCV004525812 RCV004547433 RCV004547434 RCV004547435 RCV004589352 RCV003517187 RCV001851002 RCV004022350 RCV000632126 RCV000466874 RCV000554384 RCV000456454 RCV000469199 RCV000471154 RCV000466988 RCV000464526 RCV000474300 RCV000457794 RCV000470590 RCV000469372 RCV000471670 RCV000468271 RCV000476906 RCV000467767 RCV000467805 RCV000462360 RCV000476658 RCV000472445 RCV000460562 RCV001851142 RCV000823755 RCV005090925 RCV001851155 RCV003517198 RCV001851251 RCV003155212 RCV001258063 RCV006263985 RCV001206955 RCV000532169 RCV000632114 RCV001390119 RCV001002226 RCV003476178 RCV000546948 RCV001390120 RCV001203901 RCV003517210 RCV003517206 RCV000538522 RCV005091012 RCV003464041 RCV003517205 RCV000632096 RCV000552470 RCV000697334 RCV003517207 RCV001229546 RCV000696685 RCV003517208 RCV005899747 RCV000704558 RCV000696687 RCV002527049 RCV001229975 RCV000536890 RCV003517212 RCV001380012 RCV000664332 RCV005367363 RCV000632110 RCV000794756 RCV000030191 RCV000030193 RCV000030194 RCV000030196 RCV000030198 RCV000030199 RCV000030201 RCV000030202 RCV000030203 RCV000030205 RCV000030207 RCV000030209 RCV000030210 RCV000030211 RCV000547991 RCV000524643 RCV000560572 RCV000529950 RCV000550819 RCV000524622 RCV000547647 RCV000545198 RCV000539020 RCV001377802 RCV000032982 RCV001198162 RCV000632080 RCV000632129 RCV000632123 RCV000632141 RCV000632121 RCV000632117 RCV000632124 RCV000632135 RCV000632079 RCV000659846 RCV000659845 RCV000662929 RCV000704250 RCV000705923 RCV000689715 RCV000698599 RCV000692015 RCV000702798 RCV000703817 RCV000707308 RCV000687229 RCV000695678 RCV000696600 RCV000702232 RCV000709158 RCV004689872 RCV000761296 RCV000824610 RCV000821759 RCV000813744 RCV000806153 RCV000821590 RCV000806985 RCV000803877 RCV000810806 RCV000820746 RCV000808722 RCV000800811 RCV000796395 RCV000816677 RCV000793204 RCV000822487 RCV000796726 RCV000802906 RCV000820156 RCV000801688 RCV000801108 RCV000823354 RCV000819459 RCV000988574 RCV001002347 RCV001000126 RCV001860686 RCV001350334 RCV005093151 RCV001862359 RCV003517291 RCV001862323 RCV001065726 RCV001036366 RCV001037823 RCV001056652 RCV001069023 RCV001043462 RCV001055158 RCV001047385 RCV001047541 RCV001061257 RCV001043139 RCV001174739 RCV001197197 RCV001215902 RCV001216756 RCV001223479 RCV001220086 RCV001224950 RCV001215633 RCV001213347 RCV001204903 RCV001203263 RCV001211834 RCV001233728 RCV001238238 RCV001227911 RCV001239413 RCV001240328 RCV005094287 RCV001880194 RCV003517321 RCV001307430	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroendocrine pancreatic tumor	Likely pathogenic; Pathogenic	rs104894261, rs794728652	RCV004813043 RCV004813104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs1555165256	RCV005924170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parathyroid adenoma, somatic	Likely pathogenic; Pathogenic	rs28931612	RCV000018169	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary hyperparathyroidism	Pathogenic	rs869312167	RCV000210355	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Somatotroph adenoma	Likely pathogenic; Pathogenic	rs972128957, rs1565635212	RCV000736007 RCV000736005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC DIARRHEA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocrine neoplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated hyperparathyroidism	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gigantism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERPARATHYROIDISM, PRIMARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary adenoma 5, multiple types	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary dependent hypercortisolism	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY GIGANTISM	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VIPOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abducens Nerve Palsy	Abducens palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	10077364, 11061550, 15717658, 18200440, 20454499, 21778740, 30630164, 31189769		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	20454499, 33125695, 9709921	Associate	★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	BEFREE	19509103		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	28079577		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	22936661, 29738674		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18036394		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23639647, 7757292		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19749796, 23027861		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	18036394		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10022445, 10395244, 10580746, 10647896, 10856877, 11419921, 12030908, 21127195, 27185868, 27756606, 29927501, 7907260, 8100831, 8911266		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	11756777		★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	BEFREE	10634422		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	11745215, 19522821		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	10647896, 11745215, 7534116, 9167954		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	11745215, 11786689, 17526943, 19522821, 22041710, 2575577, 30181398		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	BEFREE	10647896		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	21069576, 21266030		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	21655742, 25034529, 25078331	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CTD_human_DG	24747642		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenocorticotropin deficient adrenal insufficiency	Adrenocorticotropin deficient adrenal insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	24747642, 30721134		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	21252315		★☆☆☆☆ Found in Text Mining only
Amnesia, Transient Global	Amnesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	11275983		★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	11200937, 9236523, 9540988		★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	9141526		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	19170121, 31546150		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	21454234		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	21454234		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	24747642, 30721134		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	28991228		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	9438006		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	22409234		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19847644, 23180448, 25279812, 26732163, 28007956, 28273452, 28768698, 29897580, 30282082		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15168774, 26732163, 28273452, 33370954, 35850772, 37437063, 37484956	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35317849	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms, Male	Neoplasm of male breast	LHGDN	18036394		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16604156, 19528440, 25625803, 26732163, 28701629, 31211356, 35014621, 9681840	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	22825745, 24276465, 24670920, 26960398, 27873319, 31085341, 31300474, 38159439, 38237798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid tumor of lung	Carcinoid Tumor Of Lung	BEFREE	9157974		★☆☆☆☆ Found in Text Mining only
Carcinoid tumor of lung	Carcinoid Tumor Of Lung	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10022445, 14694525, 15077908, 15754732, 23180448, 27873319		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10674843, 26732163	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	10760691, 31085341, 35696052	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of Endocrine Gland	Endocrine Gland cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10738303, 19749796, 20639902, 23027861, 24994111, 25034529, 29565463		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	18036394		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	10433956, 31160716, 9935177		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20721741, 28442921		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	9681844		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	9681844	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	11061550, 11407658, 12144681, 15281351, 17001464, 18317953, 19522822, 19945022, 20457215, 20570174, 21778740, 23652674, 25592387, 27756606, 28476226		★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney Triad	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	14871962		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29703773		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10959095		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10959095		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28087162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36782257	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Extrahepatic	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chromosome Instability Syndromes	Chromosome Instability Syndromes	BEFREE	10087948		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10856877, 15619041		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	10856877		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10049065		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	37449924	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12973852, 30877106		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34237211, 37484956	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	28701629	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	10647896		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12505253		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28087162		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	26307114, 27247513		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	27247513	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	32759398	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	36221106	Associate	★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	11745215, 18753104, 19509103, 23319214, 24218143		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	37405461	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	32759398	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30220511, 30408435		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16886955, 19075677, 28270438		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16886955, 19075677, 28270438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	30923116		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	35941657	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	35563746	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine Gland Neoplasms	Endocrine Gland Neoplasms	BEFREE	11745428, 19904212, 25962847		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	11134142, 11454510, 15082967, 19953642, 9167954, 9681846		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	19528440, 26732163	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	11275983, 12505253, 9329390		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33457096	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal stenosis	Pubtator	28270118	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	27888797, 29672864		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28087162		★☆☆☆☆ Found in Text Mining only
Familial benign hypercalcemia	Hypocalciuric hypercalcemia	BEFREE	14985373, 28874394		★☆☆☆☆ Found in Text Mining only
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	BEFREE	10395244, 10396361, 10634381, 10664521, 10993647, 11454510, 11966738, 12213668, 12699448, 12791038, 14985373, 15292357, 15635078, 19474519, 21819486, 21985978, 28881068, 30848815, 7903311, 9506756		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	ORPHANET_DG	10664521, 12699448, 9792884		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	GENOMICS_ENGLAND_DG	25162666		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial isolated hyperparathyroidism	Hyperparathyroidism	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	26530882	Associate	★☆☆☆☆ Found in Text Mining only
familial non-medullary thyroid cancer	Thyroid cancer	GENOMICS_ENGLAND_DG	26530882		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	7889502		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	7889502		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	25962847		★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	18729310		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28602220		★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	BEFREE	11200937, 20186817, 26762354		★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fourth cranial nerve paresis	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	28079577		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	10366412, 10460018, 10634374, 10646853, 11034099, 11960210, 1285276, 15887103, 15944766, 1677253, 20562579, 23771922, 29019150, 31521501, 31818296, 9187127, 9354421, 9681846, 9703929, 9766672, 9895334		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	LHGDN	15944766, 17766710, 18314630		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	CTD_human_DG	17961653		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	14567464, 22041110		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	12973852	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	BEFREE	11246625		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19522821, 25022420		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	28130400, 35499757	Associate	★☆☆☆☆ Found in Text Mining only
Generalized osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30923116, 31383953		★☆☆☆☆ Found in Text Mining only
Glucagonoma	Glucagonoma	BEFREE	10993646, 26495792, 28188614		★☆☆☆☆ Found in Text Mining only
Glucagonoma	Glucagonoma	CTD_human_DG	17961653		★☆☆☆☆ Found in Text Mining only
Glucagonoma	Glucagonoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10902816		★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	27756606, 31189769		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	30817772		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	18310293		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	28273452	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	10612420, 11064160, 11549677, 15254225, 20175456, 24183932, 9187672, 9681840		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	28701629		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	10598193, 12016472, 20937862, 23778871, 25494863		★☆☆☆☆ Found in Text Mining only
Hibernoma	Hibernoma	BEFREE	10524534, 21078971, 28722204		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	10357696		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	LHGDN	11903322		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	14633735, 16886955, 23321498, 31781766, 9709976		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	LHGDN	17138574		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25753880		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	26307114, 27247513		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	27247513		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	10634381, 10856877, 10931102, 11095441, 11544565, 11980616, 12016470, 12039978, 12049533, 14633735, 15262511, 15619041, 15635078, 15714081, 15719382, 18036394, 19461164, 19953642, 21184284, 21985978, 23242522, 24920291, 26450137, 28874394, 29952424, 30326482, 7491535, 8981014, 9167954, 9236523, 9843042		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperparathyroidism	Hyperparathyroidism	LHGDN	12213668, 14985373, 15635078		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperparathyroidism	Hyperparathyroidism	Pubtator	15635078, 17065424, 19461164, 9681844	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperparathyroidism 1	Hyperparathyroidism	Pubtator	16995822, 22187299, 35856247, 9709921	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	15168774, 17065424, 19309299, 19461164, 22447146, 23547958, 24121387, 28663159, 29408534, 29927501, 32808116, 33125695, 33233395, 35856247, 37449924, 37465121	Associate	★☆☆☆☆ Found in Text Mining only
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	BEFREE	21985978		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	10395226, 10460018, 10715991, 10759881, 10870030, 10902816, 10931102, 11701736, 11966738, 12109621, 12368203, 14648742, 15754732, 15915376, 16714299, 17065424, 17953629, 19461164, 19474519, 19719936, 20058152, 22447146, 23052745, 23547958, 24731012, 24819502, 25592387, 27038812, 27306766, 28597079, 29225207, 29408534, 29927501, 30056973, 31348545, 31412376, 31557724, 9070272, 9709976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Primary	Hyperparathyroidism	LHGDN	18084346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Primary	Hyperparathyroidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	10902816, 11580998, 15026366		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	BEFREE	11966738, 14985373, 15292357, 19953642, 22454399, 27306766, 28674121, 28881068		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	15635078	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	2565085	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	10980535, 29927501		★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperproinsulinemia	Pubtator	29927501	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	LHGDN	18524795		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	14985373, 16430712, 21985978, 28874394		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28395809		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	28395809	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28126478, 34237211	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30021166		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10366412, 10759881, 12417605, 15900598, 15947114, 17278096, 17572302, 17766243, 18775714, 1979152, 20531244, 20562579, 21184284, 23419452, 24157940, 24425879, 25753880, 26307114, 26756113, 28969599, 29897580, 9187127, 9354421, 9820618, 9895334		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	LHGDN	12417605		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	CTD_human_DG	17961653		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	ORPHANET_DG	26307114		★☆☆☆☆ Found in Text Mining only
Insulinoma	Insulinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	23180448		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	10027401, 11216636, 17188139, 29897580, 30817772, 9167954, 9458074, 9681846		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	CGI_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	11544565		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10856877, 15619041		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	37484956	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15199122, 17671196, 18598937, 18598942, 19075677, 20175452, 20558618, 21740816, 22286128, 22829075, 23349306, 25817203, 26990989, 27840424, 27888797, 30315824, 31497350, 31821784		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15199122		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15199122, 16604156, 20558618, 22936661, 31253180, 34196551, 35534777, 35938317, 38003662, 38048400	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36455613	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22936661, 27535106, 27760321, 31855575, 35017466, 35534777, 35938317, 36455613, 37055414, 38003662, 38096371	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30315824, 31590682		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	10741690, 19837273, 2200621, 7531972, 9540988		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	21078971, 37484956	Associate	★☆☆☆☆ Found in Text Mining only
Lipomatosis	Lipomatosis	BEFREE	11571558		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	19837273, 7531972, 9540988		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple Symmetrical	Lipomatosis	BEFREE	11571558		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17058241, 23224434, 24101467, 24845612, 25088994, 29142068		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10091733, 10738303		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20639902, 27873319, 35477182, 37484956	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20639902	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30787304	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10049065		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	37460547	Associate	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	28701629		★☆☆☆☆ Found in Text Mining only
Macroprolactinoma	Macroprolactinoma	BEFREE	25532043		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30220511		★☆☆☆☆ Found in Text Mining only
Malignant Carcinoid Syndrome	Carcinoid tumor of intestine	BEFREE	17278096		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19847644, 23180448, 25279812, 26732163, 28007956, 28273452, 28768698, 29897580, 30282082		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24101467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19749796, 20639902, 23027861, 29565463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20721741, 28442921		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10893442, 26454216, 31546150		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	17961653, 21252315		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18779856, 26732163		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	11449303		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10423035, 10856877, 11114630, 11352308, 16857415, 17356705, 17555500, 18036394, 18375361, 18636154, 19837273, 21302639, 23188049, 25537453, 27872097, 28273452, 29738674, 30389902, 31160716, 31546150, 9681844		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10959095		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	11061550, 15281351, 17001464		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	11786689, 2575577, 30641519, 9794240		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10465580, 10918183, 21129151, 23648481, 26732163		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23648481	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26732163, 28186096	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	14871962, 15965488, 23406776, 25596744, 26762354, 28493484		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30220511, 30408435		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	10465580		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37484956	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	10396361, 10871015, 11407658, 11765051, 11786689, 12161532, 14985373, 15281351, 15292357, 15719382, 15730416, 15754732, 16840830, 17001464, 17030811, 18710468, 19522821, 2071147, 20721741, 20880824, 21985978, 22549346, 22846739, 24731012, 25592387, 26163537, 26596315, 26860771, 27153782, 27306766, 28613942, 30428914, 30817772, 31348545, 31387156, 7790993, 8100831, 8604810, 8846498, 9794240		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	LHGDN	11765051, 12509449		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	GENOMICS_ENGLAND_DG	23788249		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	10027401, 10092066, 10097256, 10229909, 10357696, 10366412, 10378509, 10395226, 10395246, 10398160, 10424779, 10424788, 10435055, 10441003, 10460018, 10465580, 10496602, 10524203, 10557080, 10576763, 10580746, 10595737, 10598193, 10612420, 10617276, 10634374, 10634381, 10664520, 10664521, 10709111, 10724357, 10738303, 10759881, 10760691, 10762295, 10811291, 10849016, 10856877, 10902816, 10914990, 10915003, 10918183, 10931102, 10945663, 10959095, 10989951, 10993646, 11034099, 11034102, 11061550, 11064160, 11081208, 11134142, 11238532, 11246625, 11295574, 11352308, 11369988, 11407658, 11454510, 11524904, 11544565, 11549605, 11576946, 11579199, 11745215, 11765051, 11971760, 12016470, 12030908, 12112656, 12145286, 12166655, 12356510, 12445671, 12459032, 12509449, 12755956, 12791038, 12874027, 12915685, 12946833, 15026366, 15034196, 15077908, 15105049, 15126560, 15153434, 15199122, 15205994, 15240620, 15254225, 15281351, 15281352, 15522929, 15635078, 15670192, 15717658, 15730416, 15894711, 16001329, 16189167, 16239140, 16563611, 1677253, 16840830, 16943588, 16951149, 16997566, 17000701, 17001464, 17047380, 17135306, 17185897, 17188139, 17356705, 17397250, 17519308, 17555499, 17555500, 17623761, 17766243, 17853334, 17854391, 17879353, 17890894, 17927973, 17953629, 18045958, 18058264, 18249304, 18520436, 18549467, 18710468, 18753104, 19068082, 19074834, 19075677, 19092297, 19141585, 19170121, 19307926, 19318494, 19461164, 19474519, 19491073, 19522821, 19522822, 19522825, 19564705, 19654304, 19729047, 19847644, 19904212, 19953642, 20175449, 20175450, 20175455, 20175456, 20367983, 20399832, 20616437, 20706287, 20710116, 20833329, 21069576, 21078971, 21127195, 21129151, 21266030, 21289244, 21441703, 21454242, 21600320, 21627674, 21763627, 21819486, 21917868, 22026581, 22090276, 22275377, 22281890, 22409234, 22447146, 22490989, 22584699, 22666422, 22785103, 22878668, 23052745, 23188049, 23321498, 23376981, 23391111, 23407484, 23419452, 23435440, 23580576, 23652667, 23778871, 23850066, 23933118, 24121387, 24157940, 24183932, 24218143, 24302194, 24425879, 24522746, 24531709, 24731012, 24920291, 25210877, 25279812, 25350067, 25537453, 25538250, 25565142, 25592387, 25625803, 2568586, 25753880, 26307114, 26732163, 26756113, 26871472, 27430871, 27943006, 28007956, 28106886, 28188614, 28270438, 28496137, 28530019, 28597079, 28743793, 28811299, 28811300, 28859856, 28991228, 29036195, 29039523, 29149451, 29239255, 29449689, 29497973, 29615472, 29725435, 29897580, 29921249, 29927501, 30021166, 30032405, 30149991, 30190513, 30324798, 30339208, 30368878, 30389902, 30481156, 30630164, 30721134, 31044390, 31160716, 31211356, 31263451, 31384998, 31489630, 31497350, 31528093, 31652443, 31658439, 7598693, 7673855, 7757292, 7912130, 7962349, 8099302, 8101501, 8644767, 8675591, 8938448, 8981014, 9066984, 9067266, 9070272, 9141526, 9157974, 9187127, 9205112, 9215307, 9215690, 9241276, 9286704, 9287968, 9298884, 9329390, 9361035, 9385379, 9407947, 9437237, 9439676, 9506756, 9510467, 9540988, 9554741, 9573336, 9641896, 9671073, 9671267, 9681840, 9681841, 9681842, 9681844, 9703929, 9709921, 9724078, 9735087, 9745428, 9747036, 9820618, 9832038, 9846954, 9888389, 9920092, 9929977		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	UNIPROT_DG	10090472, 10229909, 10534569, 10576763, 10617276, 10660339, 10664520, 10849016, 10993647, 11102994, 11134142, 11241849, 12050235, 12112656, 12417605, 12652570, 12699448, 12746426, 12791038, 14686752, 14992727, 15714081, 15730416, 17555499, 22327296, 9103196, 9215689, 9215690, 9463336, 9506756, 9671267, 9683585, 9709921, 9709976, 9709985, 9740255, 9747036, 9820618, 9832038, 9888389, 9989505		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	LHGDN	12050235, 15205994, 15254225, 15281352, 15635078, 16324211, 16368411, 17179192, 17388795, 17766243, 18084346, 18206547, 18249304, 18310293, 18524795, 18752793, 19208834		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	CTD_human_DG	19847644		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia type 1	Multiple Endocrine Neoplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	GENOMICS_ENGLAND_DG	23788249, 25162666		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	10915003, 22041710, 22584699, 30817772, 9794240		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	10915003, 11454510, 20058152, 22584699, 23391111, 23547958		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	BEFREE	24931355, 31725431		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia, Type IV	Multiple Endocrine Neoplasia	BEFREE	30990521		★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	BEFREE	10741690		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38003662	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10027401, 10049065, 10097256, 10378509, 10389976, 10423035, 10424779, 10433956, 10435055, 10441003, 10460018, 10465580, 10468944, 10481784, 10502325, 10524203, 10557080, 10580746, 10594843, 10612420, 10634422, 10646853, 10664520, 10715991, 10738303, 10759881, 10812010, 10816635, 10822234, 10849016, 10856877, 10870030, 10893442, 10902816, 10918183, 10931084, 10940683, 10993646, 11033760, 11034099, 11061550, 11062692, 11064160, 11095441, 11134142, 11158604, 11167122, 11200937, 11226062, 11238532, 11246625, 11275983, 11295574, 11352308, 11419921, 11449303, 11549605, 11549677, 11576946, 11579199, 11741745, 11745215, 11765049, 11825648, 11849254, 11960210, 11966739, 11971760, 11979373, 12030908, 12039978, 12049533, 12109621, 12145286, 12203793, 12213668, 12459032, 12509449, 12755956, 12837246, 12915685, 12946833, 1358795, 15044367, 15077909, 15199122, 15254225, 15292357, 15374998, 15477708, 15608505, 15635078, 15663355, 15691381, 15717658, 15890250, 15944766, 15947114, 16001329, 16239140, 16651451, 1677252, 16857415, 16943588, 16997566, 17000701, 17047380, 17058241, 17068744, 17135306, 17201810, 17222504, 17235589, 17356705, 17526943, 17555499, 17613551, 17664862, 17671196, 17890894, 17927973, 18045958, 18058264, 18310293, 18636154, 18684027, 19068082, 19075677, 19170121, 19307926, 19391077, 19461164, 19474519, 19622622, 19654304, 19719936, 19749796, 19847644, 19904212, 19953642, 20175449, 20175450, 20175454, 20175456, 20175458, 20566584, 20616437, 20824794, 20880824, 21078971, 21127195, 21252315, 21441703, 21454234, 21613051, 21763627, 21917868, 22041710, 22129891, 22275377, 22543820, 22666422, 22825745, 22915754, 23027861, 23093699, 23151902, 23180448, 23224434, 23419452, 23579270, 23616356, 23633209, 23639647, 23648481, 23652667, 23778871, 23784080, 23850066, 24157940, 24276465, 24425879, 24531709, 24912192, 24920291, 24994111, 25012242, 25034529, 25088994, 25525250, 25537453, 25538250, 25565142, 25625803, 2575577, 25962847, 26113600, 26169832, 26184857, 26363542, 26392472, 26495792, 26732163, 26756113, 26871472, 27306766, 27742788, 27872097, 27888797, 28007956, 28110695, 28188614, 28215965, 28260789, 28273452, 28420716, 28442921, 28469779, 28496137, 28501573, 28530019, 28701629, 28722204, 28743793, 28782520, 28811299, 28813709, 28899949, 28965973, 29212165, 29496634, 29565463, 29596894, 29615472, 29897580, 29909163, 30083881, 30120246, 30215160, 30315258, 30389902, 30641519, 30877106, 30946241, 31160716, 31249555, 31263451, 31383953, 31489630, 31521501, 31546150, 31818296, 7534116, 7535744, 7557969, 7598693, 7757292, 7903311, 7913019, 7913020, 7913031, 7915525, 7962349, 8101501, 8604810, 8626844, 8784062, 8912868, 8989266, 9003510, 9003511, 9066984, 9067266, 9141526, 9157974, 9167951, 9167954, 9187127, 9205112, 9215307, 9215689, 9215690, 9236523, 9241276, 9253601, 9287968, 9354421, 9361035, 9407947, 9543172, 9562970, 9564891, 9598800, 9671073, 9681840, 9681841, 9681842, 9709923, 9709976, 9721882, 9724078, 9745428, 9766672, 9777940, 9794240, 9820618, 9920087, 9920092, 9929977, 9935177		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	10424788, 15717658, 17766243, 19904212, 20616437		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25012242		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	25012242	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	10027401, 10378509, 10496602, 10594843, 10760691, 10816635, 10940682, 11062692, 11914931, 12386824, 15082967, 17278096, 18041590, 19564705, 20175456, 21252315, 21454234, 22009375, 24157940, 24425879, 24819502, 25517963, 26454216, 26495792, 27872097, 27913610, 28504695, 28591701, 28743793, 28785839, 29449689, 30181398, 30315258, 30946241, 31383953, 31384998, 31586182, 9895334		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	15070966, 19208834		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	CTD_human_DG	21252315		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	23391111		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	15051000, 31189769		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	23151902		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	ORPHANET_DG	23321498		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	29498920, 8675591		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31751303		★☆☆☆☆ Found in Text Mining only
Null pituitary adenoma	Pituitary adenoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19847644		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28106886		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25034529		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25034529	Inhibit	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12144681, 20721741, 28442921		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18036394		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33560870	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10893442, 26454216, 31546150		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	19170121, 26454216, 31546150, 31607839		★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	21441703, 29596894		★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic islet cell adenoma	Pancreatic Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	10594843, 11216636, 11238532, 12050235, 15714081, 1677362, 19170121, 8101501		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	17961653, 21252315		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	10993646, 23745036, 24293293, 28199314, 28663159, 32278331, 35179814, 36835048, 40421248	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	11352308		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	17526943, 19522821, 22041710, 23242522, 31557724, 31734934		★☆☆☆☆ Found in Text Mining only
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	Paraganglioma and gastric stromal sarcoma	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	10580746, 10704427, 10963041, 11058905, 11167122, 11352308, 12039978, 12412775, 15719382, 15754732, 19041002, 19373510, 19407509, 19719936, 20175455, 21985978, 22740705, 23633209, 27038812, 27071708, 28469779, 9070272, 9167954, 9564891, 9709976		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	17555500, 19041002, 19491073, 22281890, 23616356, 28881068, 29097378, 29225207		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	10551325, 10856877, 10915003, 10993646, 11701736, 15670192, 18249304, 20367983, 9766672		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	10366412, 10423035, 10523029, 10715991, 10724357, 10902816, 10915003, 11034102, 11058905, 11095441, 11741745, 11980616, 12109621, 12161532, 12368203, 14633735, 14668725, 15492263, 15754732, 17030811, 18310293, 20175455, 20616437, 22543820, 23771922, 2568586, 26871472, 28469779, 29097378, 9215307, 9458074, 9703929, 9709922, 9709976		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	15168774, 20208994, 22207168, 22454399, 22740705, 25034529, 28066056, 30373905, 34054720, 35856247, 36611251, 9681842	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	LHGDN	18398822		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	31489630		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	31489630	Associate	★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	11407658, 12144681		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	11745215, 11786689, 17526943, 19522821, 2575577, 30181398		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	25494863	Associate	★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	11765049, 20507346, 26113600, 27185868, 27756606, 30630164, 30637623, 31274185		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)	Pituitary adenoma	BEFREE	18317953, 20570174, 23652674, 30630164		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	16001330, 7962349		★☆☆☆☆ Found in Text Mining only
Pituitary gigantism	Pituitary Gigantism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary growth hormone cell adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	10468944		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	11765049		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	12755955, 15635078, 20507346, 21078971, 21917868, 25494863, 28663159, 28701629, 31665029	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	10334123		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	28602220		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	10460018, 12459032, 16411062, 19391077, 19953642, 21441703, 23180448, 25592387, 28079577, 8626844, 8675591, 9554741, 9562970		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	ORPHANET_DG	23321498		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18779856, 26732163		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	18779856		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18779856, 26732163, 35014621	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30099020		★☆☆☆☆ Found in Text Mining only
Reactive hypoglycemia	Reactive hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	11544565		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20175458		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	33741715	Associate	★☆☆☆☆ Found in Text Mining only
Secondary growth hormone deficiency	Growth Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27247513	Associate	★☆☆☆☆ Found in Text Mining only
Silent pituitary adenoma	Pituitary adenoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	9236523, 9540988		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	9540988		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10760691		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10760691, 38237798	Associate	★☆☆☆☆ Found in Text Mining only
Somatotrophinoma, Familial	Somatotroph adenoma	BEFREE	22144223		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25962847		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	12973852	Associate	★☆☆☆☆ Found in Text Mining only
Subcutaneous lipoma	Subcutaneous lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer Hurthle cell	Hurthle cell thyroid cancer	Pubtator	25625803	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11449303, 25625803		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10441003, 10902816, 26762354		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32737449, 34972706, 37484956	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11419921, 11765051, 12049533, 24531709, 31274185, 7757292		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	20186817, 9236523		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	28701629	Associate	★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	10915003, 11095441, 12039978, 9070272		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	18729310		★☆☆☆☆ Found in Text Mining only
Vipoma	VIPoma	CTD_human_DG	17961653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	30315258	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	15051000, 15640547, 22846739, 23391111, 29149451		★☆☆☆☆ Found in Text Mining only
Zollinger-Ellison syndrome	Zollinger-Ellison syndrome	BEFREE	11914931, 15887103, 31521501, 31818296, 9681846		★☆☆☆☆ Found in Text Mining only
Zollinger-Ellison syndrome	Zollinger-Ellison syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only