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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	147007
Gene name	Vacuolar ATPase assembly factor VMA12
Gene symbol	VMA12
Synonyms (NCBI Gene)	C17orf32CDG2PTMEM199VPH2
Chromosome	17
Chromosome location	17q11.2

237

Show/Hide all (237)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043870	hsa-miR-378a-3p	CLASH	23622248
MIRT724113	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT724112	hsa-miR-4530	HITS-CLIP	19536157
MIRT724111	hsa-miR-338-3p	HITS-CLIP	19536157
MIRT724110	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT724109	hsa-miR-146a-3p	HITS-CLIP	19536157
MIRT724108	hsa-miR-301a-5p	HITS-CLIP	19536157
MIRT724107	hsa-miR-301b-5p	HITS-CLIP	19536157
MIRT724106	hsa-miR-3921	HITS-CLIP	19536157
MIRT724105	hsa-miR-4653-5p	HITS-CLIP	19536157
MIRT724104	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT724103	hsa-miR-3151-3p	HITS-CLIP	19536157
MIRT724102	hsa-miR-383-5p	HITS-CLIP	19536157
MIRT724101	hsa-miR-4772-5p	HITS-CLIP	19536157
MIRT724100	hsa-miR-4268	HITS-CLIP	19536157
MIRT724099	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT724098	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT724097	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT724096	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT724095	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT724094	hsa-miR-3192-3p	HITS-CLIP	19536157
MIRT724093	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT695605	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT695604	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT695603	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT695602	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT695601	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT695600	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT695599	hsa-miR-3663-5p	HITS-CLIP	23313552
MIRT695598	hsa-miR-6131	HITS-CLIP	23313552
MIRT695597	hsa-miR-3140-3p	HITS-CLIP	23313552
MIRT695596	hsa-miR-3119	HITS-CLIP	23313552
MIRT695595	hsa-miR-27a-5p	HITS-CLIP	23313552
MIRT695594	hsa-miR-6501-5p	HITS-CLIP	23313552
MIRT695593	hsa-miR-4423-5p	HITS-CLIP	23313552
MIRT695592	hsa-miR-5590-5p	HITS-CLIP	23313552
MIRT695591	hsa-miR-4659a-5p	HITS-CLIP	23313552
MIRT695590	hsa-miR-4659b-5p	HITS-CLIP	23313552
MIRT695589	hsa-miR-6843-3p	HITS-CLIP	23313552
MIRT695588	hsa-miR-6848-3p	HITS-CLIP	23313552
MIRT695587	hsa-miR-744-3p	HITS-CLIP	23313552
MIRT695586	hsa-miR-4776-3p	HITS-CLIP	23313552
MIRT724113	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT724112	hsa-miR-4530	HITS-CLIP	19536157
MIRT724111	hsa-miR-338-3p	HITS-CLIP	19536157
MIRT724110	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT724109	hsa-miR-146a-3p	HITS-CLIP	19536157
MIRT724108	hsa-miR-301a-5p	HITS-CLIP	19536157
MIRT724107	hsa-miR-301b-5p	HITS-CLIP	19536157
MIRT724106	hsa-miR-3921	HITS-CLIP	19536157
MIRT724105	hsa-miR-4653-5p	HITS-CLIP	19536157
MIRT724104	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT724103	hsa-miR-3151-3p	HITS-CLIP	19536157
MIRT724102	hsa-miR-383-5p	HITS-CLIP	19536157
MIRT724101	hsa-miR-4772-5p	HITS-CLIP	19536157
MIRT724100	hsa-miR-4268	HITS-CLIP	19536157
MIRT724099	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT724098	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT724097	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT724096	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT724095	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT724094	hsa-miR-3192-3p	HITS-CLIP	19536157
MIRT724093	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT695605	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT695604	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT695603	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT695602	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT695601	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT695600	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT695599	hsa-miR-3663-5p	HITS-CLIP	23313552
MIRT695598	hsa-miR-6131	HITS-CLIP	23313552
MIRT695597	hsa-miR-3140-3p	HITS-CLIP	23313552
MIRT695596	hsa-miR-3119	HITS-CLIP	23313552
MIRT695595	hsa-miR-27a-5p	HITS-CLIP	23313552
MIRT695594	hsa-miR-6501-5p	HITS-CLIP	23313552
MIRT695593	hsa-miR-4423-5p	HITS-CLIP	23313552
MIRT695592	hsa-miR-5590-5p	HITS-CLIP	23313552
MIRT695591	hsa-miR-4659a-5p	HITS-CLIP	23313552
MIRT695590	hsa-miR-4659b-5p	HITS-CLIP	23313552
MIRT695589	hsa-miR-6843-3p	HITS-CLIP	23313552
MIRT695588	hsa-miR-6848-3p	HITS-CLIP	23313552
MIRT695587	hsa-miR-744-3p	HITS-CLIP	23313552
MIRT695586	hsa-miR-4776-3p	HITS-CLIP	23313552
MIRT1434926	hsa-miR-1251	CLIP-seq
MIRT1434927	hsa-miR-1264	CLIP-seq
MIRT1434928	hsa-miR-1299	CLIP-seq
MIRT1434929	hsa-miR-134	CLIP-seq
MIRT1434930	hsa-miR-138	CLIP-seq
MIRT1434931	hsa-miR-145	CLIP-seq
MIRT1434932	hsa-miR-3118	CLIP-seq
MIRT1434933	hsa-miR-3120-5p	CLIP-seq
MIRT1434934	hsa-miR-3168	CLIP-seq
MIRT1434935	hsa-miR-3182	CLIP-seq
MIRT1434936	hsa-miR-320a	CLIP-seq
MIRT1434937	hsa-miR-320b	CLIP-seq
MIRT1434938	hsa-miR-320c	CLIP-seq
MIRT1434939	hsa-miR-320d	CLIP-seq
MIRT1434940	hsa-miR-320e	CLIP-seq
MIRT1434941	hsa-miR-3682-3p	CLIP-seq
MIRT1434942	hsa-miR-383	CLIP-seq
MIRT1434943	hsa-miR-3943	CLIP-seq
MIRT1434944	hsa-miR-4277	CLIP-seq
MIRT1434945	hsa-miR-4293	CLIP-seq
MIRT1434946	hsa-miR-4299	CLIP-seq
MIRT1434947	hsa-miR-4305	CLIP-seq
MIRT1434948	hsa-miR-4429	CLIP-seq
MIRT1434949	hsa-miR-4434	CLIP-seq
MIRT1434950	hsa-miR-4516	CLIP-seq
MIRT1434951	hsa-miR-4531	CLIP-seq
MIRT1434952	hsa-miR-4684-5p	CLIP-seq
MIRT1434953	hsa-miR-4782-5p	CLIP-seq
MIRT1434954	hsa-miR-4785	CLIP-seq
MIRT1434955	hsa-miR-4786-3p	CLIP-seq
MIRT1434956	hsa-miR-4802-5p	CLIP-seq
MIRT1434957	hsa-miR-516b	CLIP-seq
MIRT1434958	hsa-miR-627	CLIP-seq
MIRT1434959	hsa-miR-873	CLIP-seq
MIRT1434960	hsa-miR-875-3p	CLIP-seq
MIRT1434961	hsa-miR-924	CLIP-seq
MIRT1434962	hsa-miR-942	CLIP-seq
MIRT2130335	hsa-miR-1587	CLIP-seq
MIRT1434935	hsa-miR-3182	CLIP-seq
MIRT2130336	hsa-miR-345	CLIP-seq
MIRT2130337	hsa-miR-378g	CLIP-seq
MIRT2130338	hsa-miR-4256	CLIP-seq
MIRT2130339	hsa-miR-4492	CLIP-seq
MIRT2130340	hsa-miR-4498	CLIP-seq
MIRT2130341	hsa-miR-4637	CLIP-seq
MIRT2130342	hsa-miR-4656	CLIP-seq
MIRT2130343	hsa-miR-4675	CLIP-seq
MIRT2130344	hsa-miR-4741	CLIP-seq
MIRT2130345	hsa-miR-582-3p	CLIP-seq
MIRT2130346	hsa-miR-661	CLIP-seq
MIRT2130347	hsa-miR-762	CLIP-seq
MIRT2351700	hsa-miR-1228	CLIP-seq
MIRT2351701	hsa-miR-1254	CLIP-seq
MIRT2351702	hsa-miR-2114	CLIP-seq
MIRT2351703	hsa-miR-3116	CLIP-seq
MIRT2351704	hsa-miR-323-3p	CLIP-seq
MIRT2351705	hsa-miR-3714	CLIP-seq
MIRT2351706	hsa-miR-4320	CLIP-seq
MIRT2351707	hsa-miR-4330	CLIP-seq
MIRT1434949	hsa-miR-4434	CLIP-seq
MIRT2351708	hsa-miR-4493	CLIP-seq
MIRT1434950	hsa-miR-4516	CLIP-seq
MIRT1434951	hsa-miR-4531	CLIP-seq
MIRT2351709	hsa-miR-4670-3p	CLIP-seq
MIRT2351710	hsa-miR-4747-5p	CLIP-seq
MIRT2351711	hsa-miR-554	CLIP-seq
MIRT1434943	hsa-miR-3943	CLIP-seq
MIRT1434945	hsa-miR-4293	CLIP-seq
MIRT1434955	hsa-miR-4786-3p	CLIP-seq
MIRT2351700	hsa-miR-1228	CLIP-seq
MIRT2645378	hsa-miR-1236	CLIP-seq
MIRT2645379	hsa-miR-1245	CLIP-seq
MIRT1434926	hsa-miR-1251	CLIP-seq
MIRT2645380	hsa-miR-1273d	CLIP-seq
MIRT2645381	hsa-miR-1305	CLIP-seq
MIRT2645382	hsa-miR-136	CLIP-seq
MIRT1434931	hsa-miR-145	CLIP-seq
MIRT2645383	hsa-miR-2115	CLIP-seq
MIRT2645384	hsa-miR-22	CLIP-seq
MIRT2645385	hsa-miR-2964a-5p	CLIP-seq
MIRT2645386	hsa-miR-3152-3p	CLIP-seq
MIRT1434934	hsa-miR-3168	CLIP-seq
MIRT2645387	hsa-miR-3185	CLIP-seq
MIRT2645388	hsa-miR-3186-5p	CLIP-seq
MIRT2351704	hsa-miR-323-3p	CLIP-seq
MIRT2645389	hsa-miR-3591-3p	CLIP-seq
MIRT2645390	hsa-miR-3619-3p	CLIP-seq
MIRT1434942	hsa-miR-383	CLIP-seq
MIRT1434943	hsa-miR-3943	CLIP-seq
MIRT2645391	hsa-miR-3977	CLIP-seq
MIRT1434944	hsa-miR-4277	CLIP-seq
MIRT1434945	hsa-miR-4293	CLIP-seq
MIRT2645392	hsa-miR-4312	CLIP-seq
MIRT2351707	hsa-miR-4330	CLIP-seq
MIRT1434949	hsa-miR-4434	CLIP-seq
MIRT2645393	hsa-miR-450b-5p	CLIP-seq
MIRT1434950	hsa-miR-4516	CLIP-seq
MIRT1434951	hsa-miR-4531	CLIP-seq
MIRT2645394	hsa-miR-4652-3p	CLIP-seq
MIRT2351709	hsa-miR-4670-3p	CLIP-seq
MIRT2645395	hsa-miR-4713-3p	CLIP-seq
MIRT2645396	hsa-miR-4753-3p	CLIP-seq
MIRT2645397	hsa-miR-4768-5p	CLIP-seq
MIRT1434955	hsa-miR-4786-3p	CLIP-seq
MIRT2645398	hsa-miR-4789-5p	CLIP-seq
MIRT2645399	hsa-miR-501-5p	CLIP-seq
MIRT2645400	hsa-miR-507	CLIP-seq
MIRT2645401	hsa-miR-516a-3p	CLIP-seq
MIRT2645402	hsa-miR-518a-5p	CLIP-seq
MIRT2645403	hsa-miR-527	CLIP-seq
MIRT2645404	hsa-miR-548m	CLIP-seq
MIRT2645405	hsa-miR-557	CLIP-seq
MIRT2645406	hsa-miR-576-3p	CLIP-seq
MIRT2645407	hsa-miR-578	CLIP-seq
MIRT2645408	hsa-miR-593	CLIP-seq
MIRT2645409	hsa-miR-9	CLIP-seq
MIRT2351700	hsa-miR-1228	CLIP-seq
MIRT2645378	hsa-miR-1236	CLIP-seq
MIRT1434926	hsa-miR-1251	CLIP-seq
MIRT2645380	hsa-miR-1273d	CLIP-seq
MIRT2645381	hsa-miR-1305	CLIP-seq
MIRT1434931	hsa-miR-145	CLIP-seq
MIRT2645383	hsa-miR-2115	CLIP-seq
MIRT2645384	hsa-miR-22	CLIP-seq
MIRT2645385	hsa-miR-2964a-5p	CLIP-seq
MIRT2645386	hsa-miR-3152-3p	CLIP-seq
MIRT1434934	hsa-miR-3168	CLIP-seq
MIRT2645388	hsa-miR-3186-5p	CLIP-seq
MIRT2351704	hsa-miR-323-3p	CLIP-seq
MIRT2645389	hsa-miR-3591-3p	CLIP-seq
MIRT1434942	hsa-miR-383	CLIP-seq
MIRT2645391	hsa-miR-3977	CLIP-seq
MIRT1434944	hsa-miR-4277	CLIP-seq
MIRT2645392	hsa-miR-4312	CLIP-seq
MIRT2351707	hsa-miR-4330	CLIP-seq
MIRT1434949	hsa-miR-4434	CLIP-seq
MIRT2645393	hsa-miR-450b-5p	CLIP-seq
MIRT1434950	hsa-miR-4516	CLIP-seq
MIRT1434951	hsa-miR-4531	CLIP-seq
MIRT2645394	hsa-miR-4652-3p	CLIP-seq
MIRT2351709	hsa-miR-4670-3p	CLIP-seq
MIRT2645395	hsa-miR-4713-3p	CLIP-seq
MIRT2645396	hsa-miR-4753-3p	CLIP-seq
MIRT2645397	hsa-miR-4768-5p	CLIP-seq
MIRT2645398	hsa-miR-4789-5p	CLIP-seq
MIRT2645399	hsa-miR-501-5p	CLIP-seq
MIRT2645400	hsa-miR-507	CLIP-seq
MIRT2645401	hsa-miR-516a-3p	CLIP-seq
MIRT2645402	hsa-miR-518a-5p	CLIP-seq
MIRT2645403	hsa-miR-527	CLIP-seq
MIRT2645404	hsa-miR-548m	CLIP-seq
MIRT2645405	hsa-miR-557	CLIP-seq
MIRT2645406	hsa-miR-576-3p	CLIP-seq
MIRT2645408	hsa-miR-593	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	28296633
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	28296633
GO:0007042	Process	Lysosomal lumen acidification	IMP	28296633
GO:0008142	Function	Oxysterol binding	IEA
GO:0008142	Function	Oxysterol binding	ISS
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IEA
GO:0016471	Component	Vacuolar proton-transporting V-type ATPase complex	IDA	28296633
GO:0030663	Component	COPI-coated vesicle membrane	IDA	26833330
GO:0030663	Component	COPI-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IDA	26833330
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0036295	Process	Cellular response to increased oxygen levels	IMP	28296633
GO:0070072	Process	Vacuolar proton-transporting V-type ATPase complex assembly	IEA
GO:1905146	Process	Lysosomal protein catabolic process	IMP	28296633

MIM	HGNC	e!Ensembl
616815	18085	ENSG00000244045

Q8N511

Protein name

Vacuolar ATPase assembly protein VMA12 (Transmembrane protein 199)

Protein function

Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxy

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11712	Vma12	78 → 204	Endoplasmic reticulum-based factor for assembly of V-ATPase	Family

Sequence

MASSLLAGERLVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLI
RDLHQHLRERDSKLYLHELLEGSEIYLPEVVKPPRNPELVARLEKIKIQLANEEYKRITR
NVTCQDTRHGGTLSDLGKQVRSLKALVITIFNFIVTVVAAFVCTYLGSQYIFTEMASRVL
AALIVASVVGLAELYVMVRAMEGELGEL

Sequence length

208

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital disorders of glycosylation type II	Likely pathogenic; Pathogenic	rs782531869, rs369488804	RCV000210790 RCV000210814	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TMEM199-CDG	Likely pathogenic; Pathogenic	rs782531869, rs369488804, rs869025586, rs869025587	RCV000208697 RCV000208686 RCV000208624 RCV000208655	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TMEM199-related disorder	Likely pathogenic; Pathogenic	rs782531869	RCV003407721	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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
Cervical cancer	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
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM199 CONGENITAL DISORDER OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	20158880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	BEFREE	29321044		★★★★★ ★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	Congenital disorder of glycosylation	UNIPROT_DG	26833330		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	Congenital disorder of glycosylation	ORPHANET_DG	26833330		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	26833330		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	Congenital disorder of glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	Congenital disorder of glycosylation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	26833330, 29759592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	26833330, 29321044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	26833330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	29321044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29321044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29321044	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20158880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29321044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

VMA12 (vacuolar ATPase assembly factor VMA12)