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

599

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV001829311 RCV005614712 RCV003230766 RCV000614559 RCV000851731 RCV001273031 RCV003387717 RCV003226649 RCV004527060 RCV000851664 RCV001829292 RCV000851717 RCV004526896 RCV001275007 RCV001826482 RCV004699583 RCV001829294 RCV001829427 RCV001829480 RCV000851934 RCV000851267 RCV000851266 RCV001827370 RCV001828706 RCV001264552 RCV001264553
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 RCV001535829 RCV001782261 RCV001782262 RCV002503326 RCV003470937 RCV003470938 RCV003470939 RCV004571524 RCV003475168 RCV003470960 RCV002245363 RCV003465950 RCV003987398 RCV003465957 RCV005034817 RCV005034373 RCV000005595 RCV000005597 RCV000005598 RCV000005599 RCV000005600 RCV000005601 RCV005028125 RCV003146048 RCV001332268 RCV003476436 RCV003468357 RCV003476438 RCV003468358 RCV003468359 RCV003476439 RCV003468361 RCV003468362 RCV003468363 RCV003468364 RCV003476440 RCV003469784 RCV003476441 RCV003469785 RCV003476442 RCV003469786 RCV003476443 RCV003469787 RCV003476444 RCV003476445 RCV003476446 RCV003469788 RCV003476447 RCV003476448 RCV003476449 RCV003469789 RCV003469790 RCV003469791 RCV006275901 RCV004573369 RCV004573376 RCV000020181 RCV003475104 RCV002482892 RCV005025620 RCV000020193 RCV001804742 RCV003475214 RCV003475105 RCV004576721 RCV004576722 RCV004576723 RCV004576724 RCV000500361 RCV003470646 RCV002493407 RCV000851388 RCV000851390 RCV005036199 RCV000856814 RCV000856816 RCV003467767 RCV003469361 RCV003313990 RCV001780109 RCV003469434 RCV001290770 RCV001290771
Hermansky-Pudlak syndrome with pulmonary fibrosis	Pathogenic	rs2136156603	RCV001823204
HPS1-related disorder	Likely pathogenic; Pathogenic	rs2136083690, rs972096803, rs281865163, rs281865082, rs281865084, rs773323079, rs374689398	RCV004754745 RCV003426221 RCV004754244 RCV004754246 RCV004754268 RCV003419860 RCV003413557

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs1801286, rs56378825	RCV005892308 RCV005908077
Cholangiocarcinoma	Benign	rs11591555	RCV005918377
Clear cell carcinoma of kidney	Benign	rs56378825	RCV005908078
Colorectal cancer	Benign; Likely benign	rs199874645	RCV005902652
Familial cancer of breast	Benign; Likely benign	rs1801286	RCV005892306
Gastric cancer	Benign; Uncertain significance	rs56378825, rs747955942	RCV005908079 RCV005910820
Hepatocellular carcinoma	Benign; Likely benign	rs1801286	RCV005892307
Lung cancer	Benign; Likely benign	rs1801286, rs199874645	RCV005892312 RCV005902654
Malignant lymphoma, large B-cell, diffuse	Benign	rs2296430	RCV005914610
Malignant tumor of esophagus	Benign	rs56378825	RCV005908076
Malignant tumor of urinary bladder	Benign; Likely benign	rs199874645	RCV005902651
Mesothelioma	Benign; Likely benign	rs199874645	RCV005902650
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs1801286	RCV005892309
Thymoma	Benign; Likely benign	rs1801286, rs56378825, rs199874645	RCV005892310 RCV005908080 RCV005902653
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	rs1801286, rs371779884	RCV005892311 RCV005899939
Uterine carcinosarcoma	Uncertain significance	rs747955942	RCV005910821
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs56378825, rs199874645	RCV005908081 RCV005902655

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albinism	Associate	33808351, 35488210, 39457042
Albinism Oculocutaneous	Associate	16093596, 19398212, 19865097, 30791930, 33124154, 35328057, 35870188
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Associate	11590544, 15982315, 19334085, 27459687, 29941477, 30634918, 30833808
Blood Platelet Disorders	Associate	14510955
Carcinoma Pancreatic Ductal	Associate	33801246
Crohn Disease	Associate	36302964
Granuloma	Associate	36302964
Hemorrhagic Disorders	Associate	19398212
Hermanski Pudlak Syndrome	Associate	11564171, 11590544, 14510955, 15020272, 15982315, 16093596, 16417222, 19334085, 19398212, 24583434, 25400188, 25468649, 29941477, 30791930, 31216486 View all (6 more)
Hypopigmentation	Associate	19398212
Inflammation	Associate	36302964
Inflammatory Bowel Diseases	Associate	33423334
Iris Diseases	Associate	34362826
Lung Diseases	Associate	9562579
Lung Diseases Interstitial	Associate	24583434
Lung Injury	Associate	25400188
Lysosomal Storage Diseases	Associate	16093596
Melanoma	Associate	11564171
Menorrhagia	Stimulate	30659653
Metabolic Diseases	Associate	36302964
Microphthalmia Isolated With Corectopia	Associate	34362826
Neoplasms	Associate	33801246
Nevus	Associate	15982315
Nevus Pigmented	Associate	15982315
Nystagmus Pathologic	Associate	19398212
Pigmentation Disorders	Associate	23084991, 9562579
Platelet granule deficiency disorder	Associate	15020272
Pulmonary Fibrosis	Associate	19398212, 29941477, 31619213
Pulmonary Fibrosis	Stimulate	33536261
Stroke	Associate	19023099
Vision Disorders	Associate	11590544, 19398212

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