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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	89781
Gene name	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Gene symbol	HPS4
Synonyms (NCBI Gene)	BLOC3S2LE
Chromosome	22
Chromosome location	22q12.1
Summary	This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene r

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61729175	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs119471021	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, intron variant
rs119471022	G>A,T	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs119471023	G>A,C	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs119471024	C>A	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs119471025	C>A,T	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs149830675	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281865097	A>-,AA	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs281865098	T>C,G	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281865099	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs281865100	->TTTGC	Pathogenic	Intron variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant
rs281865164	->CTCCTTCCTGCCATCTGGACAAGC	Pathogenic	Coding sequence variant, inframe insertion, non coding transcript variant
rs369053765	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs372020804	G>A	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1555907536	->T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1602079277	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant

461

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002809	hsa-miR-1-3p	Microarray	15685193
MIRT002809	hsa-miR-1-3p	Microarray	15685193
MIRT002809	hsa-miR-1-3p	Microarray	18668037
MIRT029994	hsa-miR-26b-5p	Microarray	19088304
MIRT035919	hsa-miR-1180-3p	CLASH	23622248
MIRT606949	hsa-miR-8485	HITS-CLIP	19536157
MIRT670141	hsa-miR-3939	HITS-CLIP	19536157
MIRT606949	hsa-miR-8485	HITS-CLIP	19536157
MIRT607378	hsa-miR-603	HITS-CLIP	19536157
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	19536157
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT606949	hsa-miR-8485	HITS-CLIP	22927820
MIRT606949	hsa-miR-8485	HITS-CLIP	23313552
MIRT606949	hsa-miR-8485	HITS-CLIP	23313552
MIRT607378	hsa-miR-603	HITS-CLIP	23313552
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23313552
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23313552
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23313552
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT670141	hsa-miR-3939	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT631315	hsa-miR-6782-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT631314	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	24906430
MIRT607378	hsa-miR-603	HITS-CLIP	24906430
MIRT606949	hsa-miR-8485	HITS-CLIP	24906430
MIRT607378	hsa-miR-603	HITS-CLIP	24906430
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	24906430
MIRT606949	hsa-miR-8485	HITS-CLIP	24906430
MIRT443047	hsa-miR-890	PAR-CLIP	22100165
MIRT443046	hsa-miR-6508-5p	PAR-CLIP	22100165
MIRT443045	hsa-miR-8067	PAR-CLIP	22100165
MIRT443044	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443043	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT443042	hsa-miR-518d-5p	PAR-CLIP	22100165
MIRT443041	hsa-miR-518e-5p	PAR-CLIP	22100165
MIRT443040	hsa-miR-518f-5p	PAR-CLIP	22100165
MIRT443039	hsa-miR-519a-5p	PAR-CLIP	22100165
MIRT443038	hsa-miR-519b-5p	PAR-CLIP	22100165
MIRT443037	hsa-miR-519c-5p	PAR-CLIP	22100165
MIRT443036	hsa-miR-520c-5p	PAR-CLIP	22100165
MIRT443035	hsa-miR-522-5p	PAR-CLIP	22100165
MIRT443034	hsa-miR-523-5p	PAR-CLIP	22100165
MIRT443033	hsa-miR-526a	PAR-CLIP	22100165
MIRT443032	hsa-miR-4777-5p	PAR-CLIP	22100165
MIRT440486	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440486	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	27418678
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	27418678
MIRT670141	hsa-miR-3939	HITS-CLIP	27418678
MIRT670141	hsa-miR-3939	HITS-CLIP	27418678
MIRT670141	hsa-miR-3939	HITS-CLIP	27418678
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	27418678
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	27418678
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	27418678
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	28735896
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	28735896
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	28735896
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	28735896
MIRT575487	hsa-miR-603	HITS-CLIP	28735896
MIRT575487	hsa-miR-603	HITS-CLIP	28735896
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	28735896
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	28735896
MIRT575486	hsa-miR-8485	HITS-CLIP	28735896
MIRT575486	hsa-miR-8485	HITS-CLIP	28735896
MIRT575486	hsa-miR-8485	HITS-CLIP	19536157
MIRT670141	hsa-miR-3939	HITS-CLIP	19536157
MIRT575486	hsa-miR-8485	HITS-CLIP	19536157
MIRT575487	hsa-miR-603	HITS-CLIP	19536157
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	19536157
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT575486	hsa-miR-8485	HITS-CLIP	22927820
MIRT575486	hsa-miR-8485	HITS-CLIP	23313552
MIRT575486	hsa-miR-8485	HITS-CLIP	23313552
MIRT575487	hsa-miR-603	HITS-CLIP	23313552
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23313552
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23313552
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23313552
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT670141	hsa-miR-3939	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT631315	hsa-miR-6782-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT631314	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT443047	hsa-miR-890	PAR-CLIP	22100165
MIRT443046	hsa-miR-6508-5p	PAR-CLIP	22100165
MIRT443045	hsa-miR-8067	PAR-CLIP	22100165
MIRT443044	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443043	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT443042	hsa-miR-518d-5p	PAR-CLIP	22100165
MIRT443041	hsa-miR-518e-5p	PAR-CLIP	22100165
MIRT443040	hsa-miR-518f-5p	PAR-CLIP	22100165
MIRT443039	hsa-miR-519a-5p	PAR-CLIP	22100165
MIRT443038	hsa-miR-519b-5p	PAR-CLIP	22100165
MIRT443037	hsa-miR-519c-5p	PAR-CLIP	22100165
MIRT443036	hsa-miR-520c-5p	PAR-CLIP	22100165
MIRT443035	hsa-miR-522-5p	PAR-CLIP	22100165
MIRT443034	hsa-miR-523-5p	PAR-CLIP	22100165
MIRT443033	hsa-miR-526a	PAR-CLIP	22100165
MIRT443032	hsa-miR-4777-5p	PAR-CLIP	22100165
MIRT1054239	hsa-miR-1178	CLIP-seq
MIRT1054240	hsa-miR-1234	CLIP-seq
MIRT1054241	hsa-miR-1247	CLIP-seq
MIRT1054242	hsa-miR-1305	CLIP-seq
MIRT1054243	hsa-miR-3121-3p	CLIP-seq
MIRT1054244	hsa-miR-3121-5p	CLIP-seq
MIRT1054245	hsa-miR-3163	CLIP-seq
MIRT1054246	hsa-miR-3184	CLIP-seq
MIRT1054247	hsa-miR-340	CLIP-seq
MIRT1054248	hsa-miR-3714	CLIP-seq
MIRT1054249	hsa-miR-423-5p	CLIP-seq
MIRT1054250	hsa-miR-4275	CLIP-seq
MIRT1054251	hsa-miR-4419a	CLIP-seq
MIRT1054252	hsa-miR-4438	CLIP-seq
MIRT1054253	hsa-miR-4449	CLIP-seq
MIRT1054254	hsa-miR-4510	CLIP-seq
MIRT1054255	hsa-miR-4785	CLIP-seq
MIRT1054256	hsa-miR-487a	CLIP-seq
MIRT1054257	hsa-miR-516a-3p	CLIP-seq
MIRT1054258	hsa-miR-548an	CLIP-seq
MIRT1054259	hsa-miR-671-5p	CLIP-seq
MIRT1054260	hsa-miR-767-3p	CLIP-seq
MIRT2012316	hsa-miR-145	CLIP-seq
MIRT2012317	hsa-miR-181a	CLIP-seq
MIRT2012318	hsa-miR-181b	CLIP-seq
MIRT2012319	hsa-miR-181c	CLIP-seq
MIRT2012320	hsa-miR-181d	CLIP-seq
MIRT2012321	hsa-miR-30a	CLIP-seq
MIRT2012322	hsa-miR-30b	CLIP-seq
MIRT2012323	hsa-miR-30c	CLIP-seq
MIRT2012324	hsa-miR-30d	CLIP-seq
MIRT2012325	hsa-miR-30e	CLIP-seq
MIRT2012326	hsa-miR-4262	CLIP-seq
MIRT2012327	hsa-miR-4712-5p	CLIP-seq
MIRT2012328	hsa-miR-543	CLIP-seq
MIRT2012329	hsa-miR-770-5p	CLIP-seq
MIRT2012330	hsa-miR-935	CLIP-seq
MIRT2012316	hsa-miR-145	CLIP-seq
MIRT2244662	hsa-miR-3074-3p	CLIP-seq
MIRT2012321	hsa-miR-30a	CLIP-seq
MIRT2012322	hsa-miR-30b	CLIP-seq
MIRT2012323	hsa-miR-30c	CLIP-seq
MIRT2012324	hsa-miR-30d	CLIP-seq
MIRT2012325	hsa-miR-30e	CLIP-seq
MIRT2244663	hsa-miR-320e	CLIP-seq
MIRT2012327	hsa-miR-4712-5p	CLIP-seq
MIRT2244664	hsa-miR-498	CLIP-seq
MIRT2012329	hsa-miR-770-5p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	23084991
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	12756248, 20048159, 23084991
GO:0005737	Component	Cytoplasm	IDA	12756248
GO:0005764	Component	Lysosome	IDA	12663659
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006605	Process	Protein targeting	IBA
GO:0006605	Process	Protein targeting	IDA	12663659
GO:0007040	Process	Lysosome organization	IDA	12663659
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	TAS	11836498
GO:0016020	Component	Membrane	IDA	12756248
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0031085	Component	BLOC-3 complex	IBA
GO:0031085	Component	BLOC-3 complex	IPI	12756248, 20048159, 23084991
GO:0031267	Function	Small GTPase binding	IBA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	20048159
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042470	Component	Melanosome	IDA	12663659
GO:0042803	Function	Protein homodimerization activity	IPI	12663659
GO:0042827	Component	Platelet dense granule	IDA	12756248
GO:0046983	Function	Protein dimerization activity	IPI	12663659
GO:0048075	Process	Positive regulation of eye pigmentation	TAS	11836498
GO:0050821	Process	Protein stabilization	IPI	12663659
GO:0060155	Process	Platelet dense granule organization	NAS	20048159
GO:1903232	Process	Melanosome assembly	IBA
GO:1903232	Process	Melanosome assembly	IDA	23084991
GO:1903232	Process	Melanosome assembly	NAS	23174301
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810

MIM	HGNC	e!Ensembl
606682	15844	ENSG00000100099

Q9NQG7

Protein name

BLOC-3 complex member HPS4 (Hermansky-Pudlak syndrome 4 protein) (Light-ear protein homolog)

Protein function

Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex p

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF19031	Intu_longin_1	15 → 121	First Longin domain of INTU, CCZ1 and HPS4	Domain
PF19033	Intu_longin_3	598 → 699	Intu longin-like domain 3	Domain

Sequence

MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGV
VRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYN
GPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL
QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGH
VESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKEL
VFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDT
AISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVR
MNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSS
TYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYA
CCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL

Sequence length

708

Interactions

View interactions

	Reactome
			RAB GEFs exchange GTP for GDP on RABs

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hermansky-Pudlak syndrome	Likely pathogenic; Pathogenic	rs2146534178, rs150216540, rs119471023, rs1476012328, rs369053765, rs2518199038, rs1602079277	RCV001553743 RCV002271847 RCV004799731 RCV002510397 RCV000214159 RCV003230813 RCV000851269 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hermansky-Pudlak syndrome 4	Likely pathogenic; Pathogenic	rs374343385, rs2146555632, rs773968140, rs2146241760, rs2146757484, rs150216540, rs763190774, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs372833027 View all (32 more)	RCV002570781 RCV001783430 RCV003471166 RCV002245423 RCV003992620 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Likely pathogenic	rs2146757484, rs2518649872	RCV005930046 RCV005927712	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKI-PUDLAK SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-3 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HPS4-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interstitial lung disease 2	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Albinism	Albinism	BEFREE	28289846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	35488210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	18463683, 30791930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	18326704, 18463683, 19398212, 31415434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	19398212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	LHGDN	12664304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	11836498, 12664304, 12756248, 12847290, 24168225, 30791930, 30837268		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	LHGDN	12664304, 12756248		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME 4	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	11836498, 15108212, 29108692		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 4	Hermansky-Pudlak Syndrome	BEFREE	12664304		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 4	Hermansky-Pudlak Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hermansky-Pudlak syndrome with pulmonary fibrosis	Hermansky-Pudlak Syndrome With Pulmonary Fibrosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33423334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26089329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG	11836498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	31415434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	23753089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	12664304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	15108212, 19398212, 21833017, 26121745, 27529121, 31415434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	31415434, 33536261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	31415434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23563589, 24168225		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23563589, 24168225		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24168225	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	37215115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2)