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	11311
Gene name	Vacuolar protein sorting 45 homolog
Gene symbol	VPS45
Synonyms (NCBI Gene)	H1H1VPS45SCN5VPS45AVPS45BVPS54AVSP45VSP45A
Chromosome	1
Chromosome location	1q21.2
Summary	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuol

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs782269909	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs879255237	C>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1131691903	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

232

Show/Hide all (232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003873	hsa-miR-15a-5p	Microarray	18362358
MIRT004367	hsa-miR-16-5p	Microarray	18362358
MIRT025396	hsa-miR-34a-5p	Proteomics	21566225
MIRT025396	hsa-miR-34a-5p	Proteomics	21566225
MIRT025396	hsa-miR-34a-5p	Proteomics	21566225
MIRT048645	hsa-miR-99a-5p	CLASH	23622248
MIRT048519	hsa-miR-100-5p	CLASH	23622248
MIRT045187	hsa-miR-186-5p	CLASH	23622248
MIRT635404	hsa-miR-320a	HITS-CLIP	23824327
MIRT635403	hsa-miR-320b	HITS-CLIP	23824327
MIRT635402	hsa-miR-320c	HITS-CLIP	23824327
MIRT635401	hsa-miR-320d	HITS-CLIP	23824327
MIRT635400	hsa-miR-4429	HITS-CLIP	23824327
MIRT635399	hsa-miR-6782-3p	HITS-CLIP	23824327
MIRT635398	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT635397	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT635396	hsa-miR-5695	HITS-CLIP	23824327
MIRT635395	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT635394	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT635404	hsa-miR-320a	HITS-CLIP	23824327
MIRT635403	hsa-miR-320b	HITS-CLIP	23824327
MIRT635402	hsa-miR-320c	HITS-CLIP	23824327
MIRT635401	hsa-miR-320d	HITS-CLIP	23824327
MIRT635400	hsa-miR-4429	HITS-CLIP	23824327
MIRT635399	hsa-miR-6782-3p	HITS-CLIP	23824327
MIRT635398	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT635397	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT635396	hsa-miR-5695	HITS-CLIP	23824327
MIRT635395	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT635394	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT1486974	hsa-miR-1	CLIP-seq
MIRT1486975	hsa-miR-1227	CLIP-seq
MIRT1486976	hsa-miR-1270	CLIP-seq
MIRT1486977	hsa-miR-1273g	CLIP-seq
MIRT1486978	hsa-miR-1286	CLIP-seq
MIRT1486979	hsa-miR-143	CLIP-seq
MIRT1486980	hsa-miR-148a	CLIP-seq
MIRT1486981	hsa-miR-148b	CLIP-seq
MIRT1486982	hsa-miR-152	CLIP-seq
MIRT1486983	hsa-miR-186	CLIP-seq
MIRT1486984	hsa-miR-206	CLIP-seq
MIRT1486985	hsa-miR-218	CLIP-seq
MIRT1486986	hsa-miR-219-1-3p	CLIP-seq
MIRT1486987	hsa-miR-219-5p	CLIP-seq
MIRT1486988	hsa-miR-302f	CLIP-seq
MIRT1486989	hsa-miR-3064-3p	CLIP-seq
MIRT1486990	hsa-miR-3133	CLIP-seq
MIRT1486991	hsa-miR-3168	CLIP-seq
MIRT1486992	hsa-miR-3192	CLIP-seq
MIRT1486993	hsa-miR-326	CLIP-seq
MIRT1486994	hsa-miR-330-5p	CLIP-seq
MIRT1486995	hsa-miR-3607-3p	CLIP-seq
MIRT1486996	hsa-miR-3616-5p	CLIP-seq
MIRT1486997	hsa-miR-3647-3p	CLIP-seq
MIRT1486998	hsa-miR-3647-5p	CLIP-seq
MIRT1486999	hsa-miR-3668	CLIP-seq
MIRT1487000	hsa-miR-3686	CLIP-seq
MIRT1487001	hsa-miR-3713	CLIP-seq
MIRT1487002	hsa-miR-3942-3p	CLIP-seq
MIRT1487003	hsa-miR-3944-5p	CLIP-seq
MIRT1487004	hsa-miR-4254	CLIP-seq
MIRT1487005	hsa-miR-4264	CLIP-seq
MIRT1487006	hsa-miR-4294	CLIP-seq
MIRT1487007	hsa-miR-4314	CLIP-seq
MIRT1487008	hsa-miR-4417	CLIP-seq
MIRT1487009	hsa-miR-4445	CLIP-seq
MIRT1487010	hsa-miR-4464	CLIP-seq
MIRT1487011	hsa-miR-4646-5p	CLIP-seq
MIRT1487012	hsa-miR-4683	CLIP-seq
MIRT1487013	hsa-miR-4711-3p	CLIP-seq
MIRT1487014	hsa-miR-4722-5p	CLIP-seq
MIRT1487015	hsa-miR-4748	CLIP-seq
MIRT1487016	hsa-miR-4770	CLIP-seq
MIRT1487017	hsa-miR-4782-3p	CLIP-seq
MIRT1487018	hsa-miR-4795-5p	CLIP-seq
MIRT1487019	hsa-miR-4797-3p	CLIP-seq
MIRT1487020	hsa-miR-4800-3p	CLIP-seq
MIRT1487021	hsa-miR-494	CLIP-seq
MIRT1487022	hsa-miR-508-3p	CLIP-seq
MIRT1487023	hsa-miR-569	CLIP-seq
MIRT1487024	hsa-miR-571	CLIP-seq
MIRT1487025	hsa-miR-573	CLIP-seq
MIRT1487026	hsa-miR-581	CLIP-seq
MIRT1487027	hsa-miR-592	CLIP-seq
MIRT1487028	hsa-miR-599	CLIP-seq
MIRT1487029	hsa-miR-613	CLIP-seq
MIRT1487030	hsa-miR-619	CLIP-seq
MIRT1487031	hsa-miR-620	CLIP-seq
MIRT1487032	hsa-miR-924	CLIP-seq
MIRT1486975	hsa-miR-1227	CLIP-seq
MIRT1486980	hsa-miR-148a	CLIP-seq
MIRT1486981	hsa-miR-148b	CLIP-seq
MIRT1486982	hsa-miR-152	CLIP-seq
MIRT1486988	hsa-miR-302f	CLIP-seq
MIRT1486989	hsa-miR-3064-3p	CLIP-seq
MIRT2146539	hsa-miR-3613-3p	CLIP-seq
MIRT1486997	hsa-miR-3647-3p	CLIP-seq
MIRT1486999	hsa-miR-3668	CLIP-seq
MIRT1487005	hsa-miR-4264	CLIP-seq
MIRT1487019	hsa-miR-4797-3p	CLIP-seq
MIRT2146540	hsa-miR-4802-3p	CLIP-seq
MIRT2146541	hsa-miR-485-3p	CLIP-seq
MIRT1486979	hsa-miR-143	CLIP-seq
MIRT1487016	hsa-miR-4770	CLIP-seq
MIRT1486974	hsa-miR-1	CLIP-seq
MIRT2660593	hsa-miR-1193	CLIP-seq
MIRT2660594	hsa-miR-1197	CLIP-seq
MIRT1486975	hsa-miR-1227	CLIP-seq
MIRT2660595	hsa-miR-1258	CLIP-seq
MIRT1486976	hsa-miR-1270	CLIP-seq
MIRT2660596	hsa-miR-1273f	CLIP-seq
MIRT1486977	hsa-miR-1273g	CLIP-seq
MIRT1486978	hsa-miR-1286	CLIP-seq
MIRT1486979	hsa-miR-143	CLIP-seq
MIRT1486983	hsa-miR-186	CLIP-seq
MIRT1486984	hsa-miR-206	CLIP-seq
MIRT1486986	hsa-miR-219-1-3p	CLIP-seq
MIRT2660597	hsa-miR-24	CLIP-seq
MIRT1486988	hsa-miR-302f	CLIP-seq
MIRT1486989	hsa-miR-3064-3p	CLIP-seq
MIRT2660598	hsa-miR-3117-3p	CLIP-seq
MIRT1486990	hsa-miR-3133	CLIP-seq
MIRT1486992	hsa-miR-3192	CLIP-seq
MIRT1486993	hsa-miR-326	CLIP-seq
MIRT1486994	hsa-miR-330-5p	CLIP-seq
MIRT1486995	hsa-miR-3607-3p	CLIP-seq
MIRT2146539	hsa-miR-3613-3p	CLIP-seq
MIRT1486997	hsa-miR-3647-3p	CLIP-seq
MIRT1486999	hsa-miR-3668	CLIP-seq
MIRT1487000	hsa-miR-3686	CLIP-seq
MIRT1487001	hsa-miR-3713	CLIP-seq
MIRT2660599	hsa-miR-3940-5p	CLIP-seq
MIRT1487002	hsa-miR-3942-3p	CLIP-seq
MIRT1487003	hsa-miR-3944-5p	CLIP-seq
MIRT1487004	hsa-miR-4254	CLIP-seq
MIRT2660600	hsa-miR-4282	CLIP-seq
MIRT1487006	hsa-miR-4294	CLIP-seq
MIRT1487007	hsa-miR-4314	CLIP-seq
MIRT1487008	hsa-miR-4417	CLIP-seq
MIRT2660601	hsa-miR-4437	CLIP-seq
MIRT1487010	hsa-miR-4464	CLIP-seq
MIRT2660602	hsa-miR-4475	CLIP-seq
MIRT2660603	hsa-miR-4494	CLIP-seq
MIRT2660604	hsa-miR-4507	CLIP-seq
MIRT1487011	hsa-miR-4646-5p	CLIP-seq
MIRT2660605	hsa-miR-4674	CLIP-seq
MIRT1487012	hsa-miR-4683	CLIP-seq
MIRT2660606	hsa-miR-4708-5p	CLIP-seq
MIRT1487013	hsa-miR-4711-3p	CLIP-seq
MIRT1487014	hsa-miR-4722-5p	CLIP-seq
MIRT1487015	hsa-miR-4748	CLIP-seq
MIRT1487016	hsa-miR-4770	CLIP-seq
MIRT2660607	hsa-miR-4786-3p	CLIP-seq
MIRT2660608	hsa-miR-4796-3p	CLIP-seq
MIRT1487020	hsa-miR-4800-3p	CLIP-seq
MIRT1487021	hsa-miR-494	CLIP-seq
MIRT2660609	hsa-miR-499a-5p	CLIP-seq
MIRT2660610	hsa-miR-548t	CLIP-seq
MIRT2660611	hsa-miR-548u	CLIP-seq
MIRT2660612	hsa-miR-549	CLIP-seq
MIRT1487023	hsa-miR-569	CLIP-seq
MIRT1487024	hsa-miR-571	CLIP-seq
MIRT1487026	hsa-miR-581	CLIP-seq
MIRT1487027	hsa-miR-592	CLIP-seq
MIRT1487028	hsa-miR-599	CLIP-seq
MIRT1487029	hsa-miR-613	CLIP-seq
MIRT1487030	hsa-miR-619	CLIP-seq
MIRT1487031	hsa-miR-620	CLIP-seq
MIRT2660613	hsa-miR-671-5p	CLIP-seq
MIRT2660614	hsa-miR-760	CLIP-seq
MIRT1487032	hsa-miR-924	CLIP-seq
MIRT1486974	hsa-miR-1	CLIP-seq
MIRT2660593	hsa-miR-1193	CLIP-seq
MIRT2660594	hsa-miR-1197	CLIP-seq
MIRT2695074	hsa-miR-122	CLIP-seq
MIRT1486975	hsa-miR-1227	CLIP-seq
MIRT2660595	hsa-miR-1258	CLIP-seq
MIRT2660596	hsa-miR-1273f	CLIP-seq
MIRT1486977	hsa-miR-1273g	CLIP-seq
MIRT1486978	hsa-miR-1286	CLIP-seq
MIRT1486979	hsa-miR-143	CLIP-seq
MIRT1486983	hsa-miR-186	CLIP-seq
MIRT1486984	hsa-miR-206	CLIP-seq
MIRT1486986	hsa-miR-219-1-3p	CLIP-seq
MIRT2660597	hsa-miR-24	CLIP-seq
MIRT1486988	hsa-miR-302f	CLIP-seq
MIRT1486989	hsa-miR-3064-3p	CLIP-seq
MIRT2660598	hsa-miR-3117-3p	CLIP-seq
MIRT1486990	hsa-miR-3133	CLIP-seq
MIRT1486992	hsa-miR-3192	CLIP-seq
MIRT1486993	hsa-miR-326	CLIP-seq
MIRT1486994	hsa-miR-330-5p	CLIP-seq
MIRT1486995	hsa-miR-3607-3p	CLIP-seq
MIRT2146539	hsa-miR-3613-3p	CLIP-seq
MIRT1486997	hsa-miR-3647-3p	CLIP-seq
MIRT1486999	hsa-miR-3668	CLIP-seq
MIRT1487000	hsa-miR-3686	CLIP-seq
MIRT2660599	hsa-miR-3940-5p	CLIP-seq
MIRT1487002	hsa-miR-3942-3p	CLIP-seq
MIRT1487003	hsa-miR-3944-5p	CLIP-seq
MIRT2660600	hsa-miR-4282	CLIP-seq
MIRT1487006	hsa-miR-4294	CLIP-seq
MIRT1487007	hsa-miR-4314	CLIP-seq
MIRT2660601	hsa-miR-4437	CLIP-seq
MIRT1487010	hsa-miR-4464	CLIP-seq
MIRT2660602	hsa-miR-4475	CLIP-seq
MIRT2660603	hsa-miR-4494	CLIP-seq
MIRT2660604	hsa-miR-4507	CLIP-seq
MIRT1487011	hsa-miR-4646-5p	CLIP-seq
MIRT2660605	hsa-miR-4674	CLIP-seq
MIRT2660606	hsa-miR-4708-5p	CLIP-seq
MIRT1487013	hsa-miR-4711-3p	CLIP-seq
MIRT1487014	hsa-miR-4722-5p	CLIP-seq
MIRT1487015	hsa-miR-4748	CLIP-seq
MIRT1487016	hsa-miR-4770	CLIP-seq
MIRT2660607	hsa-miR-4786-3p	CLIP-seq
MIRT2660608	hsa-miR-4796-3p	CLIP-seq
MIRT1487021	hsa-miR-494	CLIP-seq
MIRT2660609	hsa-miR-499a-5p	CLIP-seq
MIRT2660610	hsa-miR-548t	CLIP-seq
MIRT2660611	hsa-miR-548u	CLIP-seq
MIRT2660612	hsa-miR-549	CLIP-seq
MIRT1487023	hsa-miR-569	CLIP-seq
MIRT1487024	hsa-miR-571	CLIP-seq
MIRT2695075	hsa-miR-574-5p	CLIP-seq
MIRT1487026	hsa-miR-581	CLIP-seq
MIRT1487027	hsa-miR-592	CLIP-seq
MIRT1487028	hsa-miR-599	CLIP-seq
MIRT1487029	hsa-miR-613	CLIP-seq
MIRT2660613	hsa-miR-671-5p	CLIP-seq
MIRT2660614	hsa-miR-760	CLIP-seq
MIRT1487032	hsa-miR-924	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 32296183, 33961781, 35271311
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006886	Process	Intracellular protein transport	NAS	10404641
GO:0008021	Component	Synaptic vesicle	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0012505	Component	Endomembrane system	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA

MIM	HGNC	e!Ensembl
610035	14579	ENSG00000136631

Q9NRW7

Protein name

Vacuolar protein sorting-associated protein 45 (h-VPS45) (hlVps45)

Protein function

May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00995	Sec1	23 → 546	Sec1 family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expression was highest in testis, heart and brain, intermediate in kidney, spleen, prostate, ovary, small intestine and thymus and low in lung, skeletal muscle, placenta, colon, pancreas, peripheral blood leukocytes and liv

Sequence

MNVVFAVKQYISKMIEDSGPGMKVLLMDKETTGIVSMVYTQSEILQKEVYLFERIDSQNR
EIMKHLKAICFLRPTKENVDYIIQELRRPKYTIYFIYFSNVISKSDVKSLAEADEQEVVA
EVQEFYGDYIAVNPHLFSLNILGCCQGRNWDPAQLSRTTQGLTALLLSLKKCPMIRYQLS
SEAAKRLAECVKQVITKEYELFEFRRTEVPPLLLILDRCDDAITPLLNQWTYQAMVHELL
GINNNRIDLSRVPGISKDLREVVLSAENDEFYANNMYLNFAEIGSNIKNLMEDFQKKKPK
EQQKLESIADMKAFVENYPQFKKMSGTVSKHVTVVGELSRLVSERNLLEVSEVEQELACQ
NDHSSALQNIKRLLQNPKVTEFDAARLVMLYALHYERHSSNSLPGLMMDLRNKGVSEKYR
KLVSAVVEYGGKRVRGSDLFSPKDAVAITKQFLKGLKGVENVYTQHQPFLHETLDHLIKG
RLKENLYPYLGPSTLRDRPQDIIVFVIGGATYEEALTVYNLNRTTPGVRIVLGGTTVHNT
KSFLEEVLASGLHSRSKESSQVTSRSASRR

Sequence length

570

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		Intra-Golgi traffic Factors involved in megakaryocyte development and platelet production

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital neutropenia-myelofibrosis-nephromegaly syndrome	Pathogenic; Likely pathogenic	rs879255237, rs782269909	RCV000049320 RCV000049321	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe congenital neutropenia	Pathogenic	rs879255237	RCV005406790	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUTROPENIA, MYELOFIBROSIS, NEPHROMEGALY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VPS45-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	23599270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	23599270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31811111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34732130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	23599270, 26358756, 28453180, 30294941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	CTD_human_DG	23599270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	GENOMICS_ENGLAND_DG	23599270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia, myelofibrosis, nephromegaly syndrome	Congenital Neutropenia, Myelofibrosis, Nephromegaly Syndrome	GENOMICS_ENGLAND_DG	23599270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital neutropenia-myelofibrosis-nephromegaly syndrome	Congenital Neutropenia, Myelofibrosis, Nephromegaly Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial myelofibrosis	Myelofibrosis	CTD_human_DG	23599270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23738510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	23599270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30626913		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelofibrosis	Myelofibrosis	BEFREE	24164830, 28453180, 30294941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	23599270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	23599270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	23599270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	Neutropenia	GENOMICS_ENGLAND_DG	23599270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	Neutropenia	ORPHANET_DG	23738510		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	Neutropenia	UNIPROT_DG	23738510		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	Neutropenia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	Neutropenia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31578411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	24164830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	23599270, 24164830, 28453180, 30294941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	30626913		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	Pubtator	23599270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

VPS45 (vacuolar protein sorting 45 homolog)