Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	529
Gene name	ATPase H+ transporting V1 subunit E1
Gene symbol	ATP6V1E1
Synonyms (NCBI Gene)	ARCL2CATP6EATP6E2ATP6V1EP31Vma4
Chromosome	22
Chromosome location	22q11.21
Summary	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort

SNP ID	Visualize variation	Clinical significance	Consequence
rs1060505031	A>G	Pathogenic	Coding sequence variant, missense variant

153 Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023958	hsa-miR-1-3p	Proteomics	18668040
MIRT031879	hsa-miR-16-5p	Proteomics	18668040
MIRT046956	hsa-miR-221-3p	CLASH	23622248
MIRT040783	hsa-miR-18a-3p	CLASH	23622248
MIRT038081	hsa-miR-423-5p	CLASH	23622248
MIRT038081	hsa-miR-423-5p	PAR-CLIP	27292025
MIRT809346	hsa-miR-1245b-3p	CLIP-seq
MIRT809347	hsa-miR-1245b-5p	CLIP-seq
MIRT809348	hsa-miR-1287	CLIP-seq
MIRT809349	hsa-miR-1295	CLIP-seq
MIRT809350	hsa-miR-132	CLIP-seq
MIRT809351	hsa-miR-135a	CLIP-seq
MIRT809352	hsa-miR-135b	CLIP-seq
MIRT809353	hsa-miR-194	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT809356	hsa-miR-212	CLIP-seq
MIRT809357	hsa-miR-23a	CLIP-seq
MIRT809358	hsa-miR-23b	CLIP-seq
MIRT809359	hsa-miR-23c	CLIP-seq
MIRT809360	hsa-miR-3126-5p	CLIP-seq
MIRT809361	hsa-miR-3135b	CLIP-seq
MIRT809362	hsa-miR-3142	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT809364	hsa-miR-3202	CLIP-seq
MIRT809365	hsa-miR-34a	CLIP-seq
MIRT809366	hsa-miR-3591-3p	CLIP-seq
MIRT809367	hsa-miR-3650	CLIP-seq
MIRT809368	hsa-miR-4419a	CLIP-seq
MIRT809369	hsa-miR-4422	CLIP-seq
MIRT809370	hsa-miR-449b	CLIP-seq
MIRT809371	hsa-miR-4510	CLIP-seq
MIRT809372	hsa-miR-4533	CLIP-seq
MIRT809373	hsa-miR-4668-5p	CLIP-seq
MIRT809374	hsa-miR-4693-3p	CLIP-seq
MIRT809375	hsa-miR-4717-5p	CLIP-seq
MIRT809376	hsa-miR-4760-5p	CLIP-seq
MIRT809377	hsa-miR-499-3p	CLIP-seq
MIRT809378	hsa-miR-499a-3p	CLIP-seq
MIRT809379	hsa-miR-518a-3p	CLIP-seq
MIRT809380	hsa-miR-518b	CLIP-seq
MIRT809381	hsa-miR-518c	CLIP-seq
MIRT809382	hsa-miR-518d-3p	CLIP-seq
MIRT809383	hsa-miR-518f	CLIP-seq
MIRT809384	hsa-miR-645	CLIP-seq
MIRT809385	hsa-miR-664	CLIP-seq
MIRT1939120	hsa-miR-127-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939125	hsa-miR-4289	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT1939127	hsa-miR-4666-5p	CLIP-seq
MIRT809347	hsa-miR-1245b-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT809348	hsa-miR-1287	CLIP-seq
MIRT809349	hsa-miR-1295	CLIP-seq
MIRT809350	hsa-miR-132	CLIP-seq
MIRT809353	hsa-miR-194	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT809356	hsa-miR-212	CLIP-seq
MIRT2178226	hsa-miR-3064-3p	CLIP-seq
MIRT809361	hsa-miR-3135b	CLIP-seq
MIRT809362	hsa-miR-3142	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT809364	hsa-miR-3202	CLIP-seq
MIRT2178227	hsa-miR-335	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT809372	hsa-miR-4533	CLIP-seq
MIRT2178228	hsa-miR-4641	CLIP-seq
MIRT809374	hsa-miR-4693-3p	CLIP-seq
MIRT809375	hsa-miR-4717-5p	CLIP-seq
MIRT2178229	hsa-miR-4787-3p	CLIP-seq
MIRT809377	hsa-miR-499-3p	CLIP-seq
MIRT809378	hsa-miR-499a-3p	CLIP-seq
MIRT809379	hsa-miR-518a-3p	CLIP-seq
MIRT809380	hsa-miR-518b	CLIP-seq
MIRT809381	hsa-miR-518c	CLIP-seq
MIRT809382	hsa-miR-518d-3p	CLIP-seq
MIRT809383	hsa-miR-518f	CLIP-seq
MIRT809384	hsa-miR-645	CLIP-seq
MIRT2178230	hsa-miR-671-5p	CLIP-seq
MIRT2482071	hsa-miR-1205	CLIP-seq
MIRT1939120	hsa-miR-127-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT2482072	hsa-miR-1288	CLIP-seq
MIRT2482073	hsa-miR-1909	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT2178226	hsa-miR-3064-3p	CLIP-seq
MIRT2482074	hsa-miR-3144-5p	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT2482075	hsa-miR-3191	CLIP-seq
MIRT2482076	hsa-miR-3199	CLIP-seq
MIRT2178227	hsa-miR-335	CLIP-seq
MIRT809365	hsa-miR-34a	CLIP-seq
MIRT809366	hsa-miR-3591-3p	CLIP-seq
MIRT2482077	hsa-miR-3611	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT2482078	hsa-miR-3918	CLIP-seq
MIRT2482079	hsa-miR-3926	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939125	hsa-miR-4289	CLIP-seq
MIRT2482080	hsa-miR-4418	CLIP-seq
MIRT2482081	hsa-miR-4481	CLIP-seq
MIRT809370	hsa-miR-449b	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT2482082	hsa-miR-4652-5p	CLIP-seq
MIRT1939127	hsa-miR-4666-5p	CLIP-seq
MIRT2482083	hsa-miR-4745-5p	CLIP-seq
MIRT2178229	hsa-miR-4787-3p	CLIP-seq
MIRT2482084	hsa-miR-491-5p	CLIP-seq
MIRT2482085	hsa-miR-509-3-5p	CLIP-seq
MIRT2482086	hsa-miR-509-5p	CLIP-seq
MIRT2482071	hsa-miR-1205	CLIP-seq
MIRT1939120	hsa-miR-127-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT2482072	hsa-miR-1288	CLIP-seq
MIRT2482073	hsa-miR-1909	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT2178226	hsa-miR-3064-3p	CLIP-seq
MIRT2482074	hsa-miR-3144-5p	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT2482075	hsa-miR-3191	CLIP-seq
MIRT2482076	hsa-miR-3199	CLIP-seq
MIRT2178227	hsa-miR-335	CLIP-seq
MIRT809365	hsa-miR-34a	CLIP-seq
MIRT809366	hsa-miR-3591-3p	CLIP-seq
MIRT2482077	hsa-miR-3611	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT2482078	hsa-miR-3918	CLIP-seq
MIRT2482079	hsa-miR-3926	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939125	hsa-miR-4289	CLIP-seq
MIRT2482080	hsa-miR-4418	CLIP-seq
MIRT2482081	hsa-miR-4481	CLIP-seq
MIRT809370	hsa-miR-449b	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT2482082	hsa-miR-4652-5p	CLIP-seq
MIRT1939127	hsa-miR-4666-5p	CLIP-seq
MIRT2482083	hsa-miR-4745-5p	CLIP-seq
MIRT2178229	hsa-miR-4787-3p	CLIP-seq
MIRT2482084	hsa-miR-491-5p	CLIP-seq
MIRT2482085	hsa-miR-509-3-5p	CLIP-seq
MIRT2482086	hsa-miR-509-5p	CLIP-seq

30 Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	IDA	33065002
GO:0005515	Function	Protein binding	IPI	11399750, 16169070, 21784977, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016469	Component	Proton-transporting two-sector ATPase complex	TAS	8250920
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033178	Component	Proton-transporting two-sector ATPase complex, catalytic domain	IEA
GO:0045202	Component	Synapse	IEA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IBA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0051117	Function	ATPase binding	IPI	20717956
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	TAS	8250920

MIM	HGNC	e!Ensembl
108746	857	ENSG00000131100

P36543

Protein name

V-type proton ATPase subunit E 1 (V-ATPase subunit E 1) (V-ATPase 31 kDa subunit) (p31) (Vacuolar proton pump subunit E 1)

Protein function

Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:32001091, PubMed:33065002). V-ATP

PDB

6WLZ , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01991	vATP-synt_E	18 → 216	ATP synthase (E/31 kDa) subunit	Family

Tissue specificity

TISSUE SPECIFICITY: Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:29993276). Ubiquitous (PubMed:12036578). High expression in the skin (PubMed:28065471). {ECO:0000269

Sequence

MALSDADVQKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGRLVQTQRLKIMEYYEKK
EKQIEQQKKIQMSNLMNQARLKVLRARDDLITDLLNEAKQRLSKVVKDTTRYQVLLDGLV
LQGLYQLLEPRMIVRCRKQDFPLVKAAVQKAIPMYKIATKNDVDVQIDQESYLPEDIAGG
VEIYNGDRKIKVSNTLESRLDLIAQQMMPEVRGALFGANANRKFLD

Sequence length

226

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	ROS and RNS production in phagocytes
Metabolic pathways	Insulin receptor recycling
Phagosome	Transferrin endocytosis and recycling
mTOR signaling pathway	Amino acids regulate mTORC1
Synaptic vesicle cycle	Ion channel transport
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive cutis laxa type 2C	Likely pathogenic; Pathogenic	rs1028534806	RCV000477738	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa	Likely pathogenic; Pathogenic	rs1028534806	RCV004579547	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (24)
Acute myeloid leukemia	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATP6V1E1-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	28065471, 28065471	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ACCESSORY SKIN TAG	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	28065471	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN PEMPHIGUS	—	Disgenet	—	★★★★★ ★★☆☆☆ 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; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS DARIER-WHITE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (48)
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37334737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus Imperforate	Imperforate anus	Pubtator	22395867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive cutis laxa type 2, classic type	Cutis Laxa	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biventricular hypertrophy	Biventricular hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12838311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36105252, 39294741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23548265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	11381032, 22395867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	27023906		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa, Autosomal Recessive, Type IIA	Cutis Laxa	ORPHANET_DG	28065471		★★★★★ ★☆☆☆☆ Found in Text Mining only
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	Cutis Laxa	UNIPROT_DG	28065471		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	Cutis Laxa	ORPHANET_DG	28065471		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	Cutis Laxa	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	Cutis Laxa	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	Cutis Laxa	ORPHANET_DG	28065471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30051618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23548265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12838311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	23548265, 29212260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11034107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29212260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37405988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATP6V1A	5	["Cutis laxa","Accessory skin tag","Darier disease","Benign pemphigus","Rothmund-thomson syndrome"]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	11	["GWAS catalog (Cutis laxa)","Orphanet (Cutis laxa)","Disgenet (Cutis laxa)","CTD (Cutis laxa)","ClinGen (Cutis laxa)","ClinVar (Cutis laxa)","Disgenet (Accessory skin tag)","HPO (Cutis laxa)","Disgenet (Darier disease)","Disgenet (Benign pemphigus)","Disgenet (Rothmund-thomson syndrome)"]
PYCR1	5	["Cutis laxa","Accessory skin tag","Darier disease","Benign pemphigus","Rothmund-thomson syndrome"]	0	[]	11	["GWAS catalog (Cutis laxa)","Orphanet (Cutis laxa)","Disgenet (Cutis laxa)","CTD (Cutis laxa)","ClinGen (Cutis laxa)","ClinVar (Cutis laxa)","Disgenet (Accessory skin tag)","HPO (Cutis laxa)","Disgenet (Darier disease)","Disgenet (Benign pemphigus)","Disgenet (Rothmund-thomson syndrome)"]
ATP6V0A2	5	["Cutis laxa","Accessory skin tag","Darier disease","Benign pemphigus","Rothmund-thomson syndrome"]	11	["Oxidative phosphorylation","Phagosome","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Ion channel transport"]	11	["GWAS catalog (Cutis laxa)","Orphanet (Cutis laxa)","Disgenet (Cutis laxa)","CTD (Cutis laxa)","ClinGen (Cutis laxa)","ClinVar (Cutis laxa)","Disgenet (Accessory skin tag)","HPO (Cutis laxa)","Disgenet (Darier disease)","Disgenet (Benign pemphigus)","Disgenet (Rothmund-thomson syndrome)"]
ALDH18A1	5	["Cutis laxa","Accessory skin tag","Darier disease","Benign pemphigus","Rothmund-thomson syndrome"]	0	[]	10	["GWAS catalog (Cutis laxa)","Orphanet (Cutis laxa)","Disgenet (Cutis laxa)","CTD (Cutis laxa)","ClinVar (Cutis laxa)","Disgenet (Accessory skin tag)","HPO (Cutis laxa)","Disgenet (Darier disease)","Disgenet (Benign pemphigus)","Disgenet (Rothmund-thomson syndrome)"]
EFEMP2	5	["Cutis laxa","Accessory skin tag","Darier disease","Benign pemphigus","Rothmund-thomson syndrome"]	0	[]	11	["GWAS catalog (Cutis laxa)","Orphanet (Cutis laxa)","Disgenet (Cutis laxa)","CTD (Cutis laxa)","ClinGen (Cutis laxa)","ClinVar (Cutis laxa)","Disgenet (Accessory skin tag)","HPO (Cutis laxa)","Disgenet (Darier disease)","Disgenet (Benign pemphigus)","Disgenet (Rothmund-thomson syndrome)"]

ATP6V1E1 (ATPase H+ transporting V1 subunit E1)

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