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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84343
Gene name	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
Gene symbol	HPS3
Synonyms (NCBI Gene)	BLOC2S1SUTAL
Chromosome	3
Chromosome location	3q24
Summary	This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associat

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908316	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs200079039	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201227603	G>A	Pathogenic	Splice donor variant
rs281865093	T>G	Pathogenic	Splice donor variant
rs748883997	G>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs750685598	GA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs753185316	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs755083879	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs778152054	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs780183200	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1488175163	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553750083	GTGACGCGCTTTTCGTGGCGGCGGGC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553750097	G>C,T	Uncertain-significance, likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1576687466	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

143

Show/Hide all (143)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039577	hsa-miR-636	CLASH	23622248
MIRT609014	hsa-miR-410-3p	HITS-CLIP	24906430
MIRT609013	hsa-miR-5011-5p	HITS-CLIP	24906430
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	24906430
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	24906430
MIRT609010	hsa-miR-3689e	HITS-CLIP	24906430
MIRT609009	hsa-miR-3689f	HITS-CLIP	24906430
MIRT609008	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT609007	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT609006	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT576701	hsa-miR-154-3p	HITS-CLIP	27418678
MIRT576701	hsa-miR-154-3p	HITS-CLIP	27418678
MIRT576701	hsa-miR-154-3p	HITS-CLIP	27418678
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT609012	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT609011	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT609010	hsa-miR-3689e	HITS-CLIP	27418678
MIRT609010	hsa-miR-3689e	HITS-CLIP	27418678
MIRT609010	hsa-miR-3689e	HITS-CLIP	27418678
MIRT609010	hsa-miR-3689e	HITS-CLIP	27418678
MIRT609009	hsa-miR-3689f	HITS-CLIP	27418678
MIRT609009	hsa-miR-3689f	HITS-CLIP	27418678
MIRT609009	hsa-miR-3689f	HITS-CLIP	27418678
MIRT609009	hsa-miR-3689f	HITS-CLIP	27418678
MIRT609014	hsa-miR-410-3p	HITS-CLIP	27418678
MIRT576700	hsa-miR-487a-3p	HITS-CLIP	27418678
MIRT576700	hsa-miR-487a-3p	HITS-CLIP	27418678
MIRT576700	hsa-miR-487a-3p	HITS-CLIP	27418678
MIRT609013	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT576699	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT576699	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT576699	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT576696	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576696	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576696	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576696	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576697	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT576697	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT576697	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT576697	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT576698	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT576698	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT576698	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT576698	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT1054216	hsa-miR-1913	CLIP-seq
MIRT1054217	hsa-miR-2113	CLIP-seq
MIRT1054218	hsa-miR-3117-5p	CLIP-seq
MIRT1054219	hsa-miR-3149	CLIP-seq
MIRT1054220	hsa-miR-324-3p	CLIP-seq
MIRT1054221	hsa-miR-340	CLIP-seq
MIRT1054222	hsa-miR-3611	CLIP-seq
MIRT1054223	hsa-miR-3646	CLIP-seq
MIRT1054224	hsa-miR-4293	CLIP-seq
MIRT1054225	hsa-miR-4422	CLIP-seq
MIRT1054226	hsa-miR-4704-5p	CLIP-seq
MIRT1054227	hsa-miR-4719	CLIP-seq
MIRT1054228	hsa-miR-4727-5p	CLIP-seq
MIRT1054229	hsa-miR-4766-5p	CLIP-seq
MIRT1054230	hsa-miR-487a	CLIP-seq
MIRT1054231	hsa-miR-544	CLIP-seq
MIRT1054232	hsa-miR-548a-3p	CLIP-seq
MIRT1054233	hsa-miR-548ag	CLIP-seq
MIRT1054234	hsa-miR-548ai	CLIP-seq
MIRT1054235	hsa-miR-548e	CLIP-seq
MIRT1054236	hsa-miR-548f	CLIP-seq
MIRT1054237	hsa-miR-602	CLIP-seq
MIRT1054238	hsa-miR-758	CLIP-seq
MIRT1054218	hsa-miR-3117-5p	CLIP-seq
MIRT2012313	hsa-miR-3143	CLIP-seq
MIRT1054226	hsa-miR-4704-5p	CLIP-seq
MIRT2012314	hsa-miR-4709-5p	CLIP-seq
MIRT2012315	hsa-miR-485-3p	CLIP-seq
MIRT1054230	hsa-miR-487a	CLIP-seq
MIRT1054232	hsa-miR-548a-3p	CLIP-seq
MIRT1054235	hsa-miR-548e	CLIP-seq
MIRT1054236	hsa-miR-548f	CLIP-seq
MIRT2244656	hsa-miR-1343	CLIP-seq
MIRT2244657	hsa-miR-1976	CLIP-seq
MIRT1054218	hsa-miR-3117-5p	CLIP-seq
MIRT2244658	hsa-miR-3907	CLIP-seq
MIRT2244659	hsa-miR-4268	CLIP-seq
MIRT2244660	hsa-miR-4279	CLIP-seq
MIRT2244661	hsa-miR-4448	CLIP-seq
MIRT1054226	hsa-miR-4704-5p	CLIP-seq
MIRT2012315	hsa-miR-485-3p	CLIP-seq
MIRT1054232	hsa-miR-548a-3p	CLIP-seq
MIRT1054235	hsa-miR-548e	CLIP-seq
MIRT1054236	hsa-miR-548f	CLIP-seq
MIRT1054218	hsa-miR-3117-5p	CLIP-seq
MIRT1054226	hsa-miR-4704-5p	CLIP-seq
MIRT2012315	hsa-miR-485-3p	CLIP-seq
MIRT1054232	hsa-miR-548a-3p	CLIP-seq
MIRT1054235	hsa-miR-548e	CLIP-seq
MIRT1054236	hsa-miR-548f	CLIP-seq
MIRT2451370	hsa-miR-3121-3p	CLIP-seq
MIRT2451371	hsa-miR-3684	CLIP-seq
MIRT2451372	hsa-miR-4698	CLIP-seq
MIRT2547564	hsa-miR-2053	CLIP-seq
MIRT2547565	hsa-miR-30a	CLIP-seq
MIRT2547566	hsa-miR-30b	CLIP-seq
MIRT2547567	hsa-miR-30c	CLIP-seq
MIRT2547568	hsa-miR-30d	CLIP-seq
MIRT2547569	hsa-miR-30e	CLIP-seq
MIRT2547570	hsa-miR-3662	CLIP-seq
MIRT2547571	hsa-miR-3919	CLIP-seq
MIRT2547572	hsa-miR-4305	CLIP-seq
MIRT2547573	hsa-miR-4756-3p	CLIP-seq
MIRT2547574	hsa-miR-498	CLIP-seq
MIRT2547575	hsa-miR-548a-5p	CLIP-seq
MIRT2547576	hsa-miR-548ab	CLIP-seq
MIRT2547577	hsa-miR-548ak	CLIP-seq
MIRT2547578	hsa-miR-548b-5p	CLIP-seq
MIRT2547579	hsa-miR-548c-5p	CLIP-seq
MIRT2547580	hsa-miR-548d-5p	CLIP-seq
MIRT2547581	hsa-miR-548h	CLIP-seq
MIRT2547582	hsa-miR-548i	CLIP-seq
MIRT2547583	hsa-miR-548j	CLIP-seq
MIRT2547584	hsa-miR-548n	CLIP-seq
MIRT2547585	hsa-miR-548t	CLIP-seq
MIRT2547586	hsa-miR-548w	CLIP-seq
MIRT2547587	hsa-miR-548y	CLIP-seq
MIRT2547588	hsa-miR-559	CLIP-seq
MIRT2547589	hsa-miR-569	CLIP-seq
MIRT2547590	hsa-miR-579	CLIP-seq
MIRT2547591	hsa-miR-633	CLIP-seq
MIRT2547592	hsa-miR-802	CLIP-seq
MIRT2547564	hsa-miR-2053	CLIP-seq
MIRT2547565	hsa-miR-30a	CLIP-seq
MIRT2547566	hsa-miR-30b	CLIP-seq
MIRT2547567	hsa-miR-30c	CLIP-seq
MIRT2547568	hsa-miR-30d	CLIP-seq
MIRT2547569	hsa-miR-30e	CLIP-seq
MIRT2547571	hsa-miR-3919	CLIP-seq
MIRT2547572	hsa-miR-4305	CLIP-seq
MIRT2547573	hsa-miR-4756-3p	CLIP-seq
MIRT2547589	hsa-miR-569	CLIP-seq
MIRT2547590	hsa-miR-579	CLIP-seq
MIRT2547591	hsa-miR-633	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25189619, 31611645, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005769	Component	Early endosome	NAS	23247405
GO:0005829	Component	Cytosol	IEA
GO:0031084	Component	BLOC-2 complex	IBA
GO:0031084	Component	BLOC-2 complex	IPI	15030569
GO:0043473	Process	Pigmentation	IBA
GO:0043473	Process	Pigmentation	IEA
GO:0060155	Process	Platelet dense granule organization	NAS	23247405
GO:1903232	Process	Melanosome assembly	NAS	23247405

MIM	HGNC	e!Ensembl
606118	15597	ENSG00000163755

Q969F9

Protein name

BLOC-2 complex member HPS3 (Hermansky-Pudlak syndrome 3 protein)

Protein function

Involved in early stages of melanosome biogenesis and maturation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14761	HPS3_N	3 → 212	Hermansky-Pudlak syndrome 3	Domain
PF14762	HPS3_Mid	256 → 642	Hermansky-Pudlak syndrome 3, middle region	Domain
PF14763	HPS3_C	651 → 1002	Hermansky-Pudlak syndrome 3, C-terminal	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.

Sequence

MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFST
LGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKA
FRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFSLKYQIINEEFSLLDFERSLI
IHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGIS
NEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPD
ISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKS
VELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPV
SMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPP
VAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLE
PGEKAELLEAFKESCGHLGDCYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQ
KYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAM
SYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQR
KGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVD
FWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPW
VHVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTR
LKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSS
LKETLSIVAVELELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT

Sequence length

1004

Interactions

View interactions

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hepatocellular carcinoma	Pathogenic	rs141023798	RCV005935076	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome	Likely pathogenic; Pathogenic	rs1411572278, rs1476066527, rs760577035, rs2108184819, rs34388030, rs201227603, rs397507168, rs121908316, rs2472689274, rs2473069453, rs753185316, rs1553750097, rs780183200, rs1576695913, rs1576708708 View all (7 more)	RCV001826144 RCV001826149 RCV005057830 RCV005614688 RCV005616391 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hermansky-Pudlak syndrome 2	Likely pathogenic; Pathogenic	rs200079039	RCV001003902	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome 3	Likely pathogenic; Pathogenic	rs746906314, rs1411572278, rs1476066527, rs1309602954, rs1292407171, rs1363245838, rs1032570128, rs2108173648, rs763305108, rs1723609962, rs1286892626, rs1466073004, rs770108122, rs760577035, rs868868714 View all (132 more)	RCV003145647 RCV001780288 RCV003462958 RCV001780368 RCV003469685 View all (144 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HPS3-related disorder	Likely pathogenic; Pathogenic	rs752837159, rs201227603, rs2473120616, rs750685598	RCV003892970 RCV004745146 RCV003911369 RCV003392626	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
Abnormal bleeding	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF FERROXIDASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	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-2 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME WITHOUT PULMONARY FIBROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Albinism	Albinism	BEFREE	24766090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	33808351, 35488210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	38007062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	LHGDN	11590544, 12125811		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CLINVAR_DG	11590544, 25525159		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	15288994, 15632015, 30791930		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermansky Pudlak syndrome 2	Hermansky-pudlak syndrome	Pubtator	11590544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HERMANSKY-PUDLAK SYNDROME 3	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	11455388, 11590544, 28284561		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 3	Hermansky-Pudlak Syndrome	UNIPROT_DG	11455388, 11590544		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 3	Hermansky-Pudlak Syndrome	BEFREE	11592818, 28284561		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 3	Hermansky-Pudlak Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hermansky-Pudlak syndrome without pulmonary fibrosis	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	12125811, 15632015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33423334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	11590544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1)