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	3257
Gene name	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Gene symbol	HPS1
Synonyms (NCBI Gene)	BLOC3S1HPS
Chromosome	10
Chromosome location	10q24.2
Summary	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related org

Show/Hide all (40)

SNP ID	Visualize variation	Clinical significance	Consequence
rs115265574	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, coding sequence variant, synonymous variant
rs121908385	C>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, stop gained, coding sequence variant
rs121908386	C>A,T	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, stop gained, intron variant
rs138771756	G>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs150444975	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs281865073	TGA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, inframe deletion
rs281865074	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs281865075	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs281865076	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant, intron variant
rs281865077	C>G,T	Pathogenic	Intron variant
rs281865078	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs281865080	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs281865081	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs281865082	G>-,GG	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs281865084	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs281865085	->T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs281865086	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs281865087	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs281865088	T>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs281865089	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs281865090	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs281865091	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs281865092	->G	Pathogenic	Frameshift variant, coding sequence variant, initiator codon variant, genic downstream transcript variant, non coding transcript variant
rs281865163	->CTCCCCTGCTGGGGGC	Pathogenic	Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs374689398	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs569192835	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs748106098	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs773323079	ACAGGAAGTT>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs786205464	C>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant
rs886077189	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1260083432	C>T	Likely-pathogenic	Intron variant
rs1486224265	A>G	Pathogenic	Splice donor variant, intron variant
rs1591002808	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1591003183	C>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1591031929	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1591045080	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1591055649	GTGGGGAACCAGTGTTTGGAGGGTGTCCTCTGCTATCTACAGAGGAAGAAGAGCTGCAGTGAGAGGTGGGATCCCTAAGT>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, splice acceptor variant, genic downstream transcript variant
rs1591082099	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1591109881	A>C	Likely-pathogenic	Synonymous variant, coding sequence variant, 5 prime UTR variant, splice donor variant, missense variant
rs1591120765	C>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant

140

Show/Hide all (140)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048904	hsa-miR-93-5p	CLASH	23622248
MIRT043286	hsa-miR-331-3p	CLASH	23622248
MIRT1054201	hsa-miR-1202	CLIP-seq
MIRT1054202	hsa-miR-3689d	CLIP-seq
MIRT1054203	hsa-miR-3972	CLIP-seq
MIRT1054204	hsa-miR-4459	CLIP-seq
MIRT1054205	hsa-miR-4755-3p	CLIP-seq
MIRT1054206	hsa-miR-665	CLIP-seq
MIRT1054207	hsa-miR-3613-3p	CLIP-seq
MIRT1054208	hsa-miR-3646	CLIP-seq
MIRT1054209	hsa-miR-4251	CLIP-seq
MIRT1054210	hsa-miR-4329	CLIP-seq
MIRT1054211	hsa-miR-520d-5p	CLIP-seq
MIRT1054212	hsa-miR-524-5p	CLIP-seq
MIRT1054213	hsa-miR-580	CLIP-seq
MIRT1054214	hsa-miR-627	CLIP-seq
MIRT1054215	hsa-miR-924	CLIP-seq
MIRT2012306	hsa-miR-3154	CLIP-seq
MIRT2012307	hsa-miR-4417	CLIP-seq
MIRT2012308	hsa-miR-4437	CLIP-seq
MIRT2012309	hsa-miR-4674	CLIP-seq
MIRT2012310	hsa-miR-4715-3p	CLIP-seq
MIRT2012311	hsa-miR-541	CLIP-seq
MIRT2012312	hsa-miR-654-5p	CLIP-seq
MIRT2244654	hsa-miR-1976	CLIP-seq
MIRT2244655	hsa-miR-2467-5p	CLIP-seq
MIRT2012310	hsa-miR-4715-3p	CLIP-seq
MIRT2389156	hsa-miR-1293	CLIP-seq
MIRT2389157	hsa-miR-3184	CLIP-seq
MIRT2389158	hsa-miR-3622a-3p	CLIP-seq
MIRT2389159	hsa-miR-3622b-3p	CLIP-seq
MIRT2389160	hsa-miR-423-5p	CLIP-seq
MIRT2012307	hsa-miR-4417	CLIP-seq
MIRT2389161	hsa-miR-4483	CLIP-seq
MIRT2389162	hsa-miR-4691-5p	CLIP-seq
MIRT2389163	hsa-miR-4704-3p	CLIP-seq
MIRT2389164	hsa-miR-4731-5p	CLIP-seq
MIRT2389165	hsa-miR-516a-3p	CLIP-seq
MIRT2012311	hsa-miR-541	CLIP-seq
MIRT2389166	hsa-miR-544b	CLIP-seq
MIRT2012312	hsa-miR-654-5p	CLIP-seq
MIRT2547520	hsa-miR-1182	CLIP-seq
MIRT2547521	hsa-miR-1228	CLIP-seq
MIRT2547522	hsa-miR-1236	CLIP-seq
MIRT2547523	hsa-miR-1285	CLIP-seq
MIRT2389156	hsa-miR-1293	CLIP-seq
MIRT2547524	hsa-miR-1324	CLIP-seq
MIRT2547525	hsa-miR-1587	CLIP-seq
MIRT2547526	hsa-miR-184	CLIP-seq
MIRT2547527	hsa-miR-1913	CLIP-seq
MIRT2547528	hsa-miR-2110	CLIP-seq
MIRT2547529	hsa-miR-2392	CLIP-seq
MIRT2244655	hsa-miR-2467-5p	CLIP-seq
MIRT2547530	hsa-miR-3147	CLIP-seq
MIRT2012306	hsa-miR-3154	CLIP-seq
MIRT2547531	hsa-miR-3157-3p	CLIP-seq
MIRT2547532	hsa-miR-3158-5p	CLIP-seq
MIRT2547533	hsa-miR-3166	CLIP-seq
MIRT2547534	hsa-miR-3170	CLIP-seq
MIRT2547535	hsa-miR-3187-5p	CLIP-seq
MIRT2547536	hsa-miR-323-5p	CLIP-seq
MIRT2547537	hsa-miR-324-3p	CLIP-seq
MIRT2547538	hsa-miR-3620	CLIP-seq
MIRT2547539	hsa-miR-3664-3p	CLIP-seq
MIRT1054202	hsa-miR-3689d	CLIP-seq
MIRT2547540	hsa-miR-378g	CLIP-seq
MIRT2547541	hsa-miR-4252	CLIP-seq
MIRT2547542	hsa-miR-4271	CLIP-seq
MIRT2547543	hsa-miR-4276	CLIP-seq
MIRT2547544	hsa-miR-4292	CLIP-seq
MIRT2547545	hsa-miR-4315	CLIP-seq
MIRT2547546	hsa-miR-4418	CLIP-seq
MIRT2547547	hsa-miR-4425	CLIP-seq
MIRT1054204	hsa-miR-4459	CLIP-seq
MIRT2389161	hsa-miR-4483	CLIP-seq
MIRT2012309	hsa-miR-4674	CLIP-seq
MIRT2547548	hsa-miR-4695-5p	CLIP-seq
MIRT2547549	hsa-miR-4700-3p	CLIP-seq
MIRT2547550	hsa-miR-4701-5p	CLIP-seq
MIRT2012310	hsa-miR-4715-3p	CLIP-seq
MIRT2547551	hsa-miR-4725-3p	CLIP-seq
MIRT2547552	hsa-miR-4771	CLIP-seq
MIRT2547553	hsa-miR-4781-3p	CLIP-seq
MIRT2547554	hsa-miR-4790-5p	CLIP-seq
MIRT2547555	hsa-miR-4802-3p	CLIP-seq
MIRT2547556	hsa-miR-4802-5p	CLIP-seq
MIRT2547557	hsa-miR-491-5p	CLIP-seq
MIRT2547558	hsa-miR-509-3-5p	CLIP-seq
MIRT2547559	hsa-miR-509-5p	CLIP-seq
MIRT1054211	hsa-miR-520d-5p	CLIP-seq
MIRT1054212	hsa-miR-524-5p	CLIP-seq
MIRT2547560	hsa-miR-588	CLIP-seq
MIRT2547561	hsa-miR-601	CLIP-seq
MIRT2547562	hsa-miR-612	CLIP-seq
MIRT2547563	hsa-miR-642a	CLIP-seq
MIRT1054201	hsa-miR-1202	CLIP-seq
MIRT2547521	hsa-miR-1228	CLIP-seq
MIRT2547523	hsa-miR-1285	CLIP-seq
MIRT2389156	hsa-miR-1293	CLIP-seq
MIRT2547524	hsa-miR-1324	CLIP-seq
MIRT2547526	hsa-miR-184	CLIP-seq
MIRT2547527	hsa-miR-1913	CLIP-seq
MIRT2547528	hsa-miR-2110	CLIP-seq
MIRT2547529	hsa-miR-2392	CLIP-seq
MIRT2682454	hsa-miR-2467-3p	CLIP-seq
MIRT2244655	hsa-miR-2467-5p	CLIP-seq
MIRT2547531	hsa-miR-3157-3p	CLIP-seq
MIRT2547532	hsa-miR-3158-5p	CLIP-seq
MIRT2547533	hsa-miR-3166	CLIP-seq
MIRT2547534	hsa-miR-3170	CLIP-seq
MIRT2547535	hsa-miR-3187-5p	CLIP-seq
MIRT2547536	hsa-miR-323-5p	CLIP-seq
MIRT2547537	hsa-miR-324-3p	CLIP-seq
MIRT2547538	hsa-miR-3620	CLIP-seq
MIRT2547539	hsa-miR-3664-3p	CLIP-seq
MIRT2682455	hsa-miR-3678-3p	CLIP-seq
MIRT1054202	hsa-miR-3689d	CLIP-seq
MIRT1054203	hsa-miR-3972	CLIP-seq
MIRT2547541	hsa-miR-4252	CLIP-seq
MIRT2547542	hsa-miR-4271	CLIP-seq
MIRT2547544	hsa-miR-4292	CLIP-seq
MIRT2547545	hsa-miR-4315	CLIP-seq
MIRT2547546	hsa-miR-4418	CLIP-seq
MIRT1054204	hsa-miR-4459	CLIP-seq
MIRT2389161	hsa-miR-4483	CLIP-seq
MIRT2547548	hsa-miR-4695-5p	CLIP-seq
MIRT2547550	hsa-miR-4701-5p	CLIP-seq
MIRT2547551	hsa-miR-4725-3p	CLIP-seq
MIRT1054205	hsa-miR-4755-3p	CLIP-seq
MIRT2547552	hsa-miR-4771	CLIP-seq
MIRT2547554	hsa-miR-4790-5p	CLIP-seq
MIRT2547555	hsa-miR-4802-3p	CLIP-seq
MIRT2547556	hsa-miR-4802-5p	CLIP-seq
MIRT2547557	hsa-miR-491-5p	CLIP-seq
MIRT2547558	hsa-miR-509-3-5p	CLIP-seq
MIRT2547559	hsa-miR-509-5p	CLIP-seq
MIRT2547560	hsa-miR-588	CLIP-seq
MIRT2547561	hsa-miR-601	CLIP-seq
MIRT2547562	hsa-miR-612	CLIP-seq
MIRT1054206	hsa-miR-665	CLIP-seq

Show/Hide all (19)

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:0005737	Component	Cytoplasm	TAS	10625677
GO:0005764	Component	Lysosome	TAS	10625677
GO:0005829	Component	Cytosol	TAS
GO:0007040	Process	Lysosome organization	TAS	10625677
GO:0007601	Process	Visual perception	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0031085	Component	BLOC-3 complex	IBA
GO:0031085	Component	BLOC-3 complex	IPI	12756248, 20048159, 23084991
GO:0031410	Component	Cytoplasmic vesicle	IDA	11836498
GO:0046983	Function	Protein dimerization activity	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

MIM	HGNC	e!Ensembl
604982	5163	ENSG00000107521

Q92902

Protein name

BLOC-3 complex member HPS1 (Hermansky-Pudlak syndrome 1 protein)

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
PF19036	Fuz_longin_1	2 → 159	First Longin domain of FUZ, MON1 and HPS1	Domain
PF19037	Fuz_longin_2	204 → 405	Second Longin domain of FUZ, MON1 and HPS1	Domain
PF19038	Fuz_longin_3	540 → 695	Third Longin domain of FUZ, MON1 and HPS1	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMT
MLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHF
GLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLC
ELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILL
VQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEY
FTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKES
YCPLVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLR
SQPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLCA
IYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLEDFPG
LVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTL
LFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRPTE
AVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL

Sequence length

700

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 (4)

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	rs764927038, rs748888649, rs1185127836, rs748939090, rs758797992, rs769446880, rs1845534948, rs1330094451, rs281865163, rs121908385, rs281865082, rs281865077, rs2538792615, rs2538722919, rs281865084 View all (16 more)	RCV001826175 RCV001829291 RCV001829293 RCV001829295 RCV001829300 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hermansky-Pudlak syndrome 1	Likely pathogenic; Pathogenic	rs1278834481, rs1938751649, rs2136083690, rs764927038, rs1846158787, rs2136197089, rs750909242, rs2136102397, rs758028806, rs1185127836, rs758797992, rs769446880, rs2136327710, rs962689701, rs972096803 View all (71 more)	RCV003475196 RCV001334305 RCV003469647 RCV003469730 RCV003473944 View all (83 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hermansky-Pudlak syndrome with pulmonary fibrosis	Pathogenic	rs2136156603	RCV001823204	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPS1-related disorder	Likely pathogenic; Pathogenic	rs2136083690, rs972096803, rs281865163, rs281865082, rs281865084, rs773323079, rs374689398	RCV004754745 RCV003426221 RCV004754244 RCV004754246 RCV004754268 RCV003419860 RCV003413557 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (20)

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.
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKI-PUDLAK SYNDROME	—	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
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Albinism	Albinism	BEFREE	24766090, 27647118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	33808351, 35488210, 39457042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	16093596, 19398212, 19865097, 30791930, 33124154, 35328057, 35870188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	GENOMICS_ENGLAND_DG	10971344, 25707719, 7573033, 8896559, 9497254, 9562579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	BEFREE	11590544, 11592818, 15452859, 26165494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	CLINGEN_DG	12756248, 12847290, 16185271, 25468649, 27593200, 27942505, 29190429, 8896559, 9256466, 9497254, 9705234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	CLINVAR_DG	15952982, 17365864, 20514622, 26806224, 9497254, 9705234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	16550546, 30942644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	16185271, 16550546, 18046229, 18463683, 19398212, 19523149, 23364476, 26165494, 27459687, 30387913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	GENOMICS_ENGLAND_DG	9562579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	10906158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter syndrome, type 3	Bartter syndrome	BEFREE	10906158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30582661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	19398212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	14510955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30140154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33801246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	10094567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	16431308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21641392, 29213343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	36302964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	28833992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophagocytic Syndrome	Hemophagocytic Syndrome	BEFREE	28497365, 31072325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	19398212	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	10094567, 10411151, 10798370, 10971344, 11564171, 12756248, 12847290, 15020272, 15288994, 15632015, 16185271, 23893484, 25117010, 25375251, 27345974 View all (10 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	LHGDN	12125811, 12756248, 12847290, 16020891		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CLINVAR_DG	14510955, 16185271, 20662851, 31064749, 8896559, 9497254		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	9497254		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME 3	Hermansky-Pudlak Syndrome	BEFREE	17041891		★★★★★ ★☆☆☆☆ Found in Text Mining only
HERMANSKY-PUDLAK SYNDROME 4	Hermansky-Pudlak Syndrome	BEFREE	29427412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermansky-Pudlak syndrome with pulmonary fibrosis	Hermansky-Pudlak Syndrome With Pulmonary Fibrosis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	15632015, 25160823, 31776394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation-immunodeficiency disease	Hypopigmentation-Immunodeficiency Disease	BEFREE	16550546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27459687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33423334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GENOMICS_ENGLAND_DG	9562579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31776394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28436965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG	8896559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	9562579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	24583434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	23753089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	31072325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30140154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11564171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	36302964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	30944467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	10906158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	19398212	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	15020272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	10631210, 19398212, 21833017, 26121745, 27459687, 27529121, 29427412, 31619213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	19398212, 29941477, 31619213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	33536261	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	GENOMICS_ENGLAND_DG	9562579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23563589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	19023099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1B	Usher Syndrome	BEFREE	16550546		★★★★★ ★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	BEFREE	16550546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	11590544, 19398212	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1)