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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10312
Gene name	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Gene symbol	TCIRG1
Synonyms (NCBI Gene)	ATP6N1CATP6V0A3Atp6iOC-116kDaOC116OPTB1Stv1TIRC7Vph1a3
Chromosome	11
Chromosome location	11q13.2
Summary	This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environm

Show/Hide all (46)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853149	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs137853150	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853151	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs138527421	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs139617644	G>A	Pathogenic	Splice acceptor variant
rs140963213	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs141356870	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs141859450	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs142539969	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs145080707	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs145144233	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs145718040	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs150788130	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs151180675	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs183885218	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs371263807	C>A,T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, downstream transcript variant, synonymous variant
rs377303800	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs377606178	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, downstream transcript variant, intron variant
rs587779413	C>A	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, downstream transcript variant
rs745971874	G>A	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs748659068	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs751881962	A>C,T	Pathogenic, likely-pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant
rs758977199	A>C,T	Likely-pathogenic	Splice acceptor variant
rs777785526	C>T	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs886048594	GGAGCGC>-	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs917505107	G>A,T	Likely-pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1057517365	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1208311085	CCCC>-,CCC	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant
rs1300297240	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs1338631330	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, stop gained, upstream transcript variant
rs1439348400	G>T	Likely-pathogenic	Splice donor variant
rs1475338876	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1489993984	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1554995009	C>T	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554995115	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554997818	T>C	Likely-pathogenic	Splice donor variant
rs1554997884	G>A	Likely-pathogenic	Splice acceptor variant
rs1554997997	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554998061	->GCCG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554999205	G>C	Likely-pathogenic	Non coding transcript variant, splice donor variant
rs1554999516	->AG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1554999769	->C	Likely-pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555000376	A>G	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1590817956	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1590819770	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs1590819834	->G	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant

Show/Hide all (78)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000220	Component	Vacuolar proton-transporting V-type ATPase, V0 domain	IEA
GO:0001503	Process	Ossification	IEA
GO:0002158	Process	Osteoclast proliferation	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	NAS	32001091
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005770	Component	Late endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	32001091
GO:0005886	Component	Plasma membrane	TAS	9806637, 10329006
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006968	Process	Cellular defense response	TAS	9806637
GO:0007035	Process	Vacuolar acidification	IBA
GO:0007035	Process	Vacuolar acidification	NAS	32001091
GO:0007039	Process	Protein catabolic process in the vacuole	IEA
GO:0007039	Process	Protein catabolic process in the vacuole	ISS
GO:0007042	Process	Lysosomal lumen acidification	NAS	32001091
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	9806637
GO:0010008	Component	Endosome membrane	NAS	32001091
GO:0010008	Component	Endosome membrane	TAS
GO:0010155	Process	Regulation of proton transport	IEA
GO:0010272	Process	Response to silver ion	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016064	Process	Immunoglobulin mediated immune response	IEA
GO:0016236	Process	Macroautophagy	IEA
GO:0016236	Process	Macroautophagy	ISS
GO:0016324	Component	Apical plasma membrane	IDA	15800125
GO:0016471	Component	Vacuolar proton-transporting V-type ATPase complex	IBA
GO:0021554	Process	Optic nerve development	IEA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030667	Component	Secretory granule membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031529	Process	Ruffle organization	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0033179	Component	Proton-transporting V-type ATPase, V0 domain	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0035709	Process	Memory T cell activation	IEA
GO:0035711	Process	T-helper 1 cell activation	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0043029	Process	T cell homeostasis	IEA
GO:0044691	Process	Tooth eruption	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045453	Process	Bone resorption	IEA
GO:0045667	Process	Regulation of osteoblast differentiation	IEA
GO:0045851	Process	PH reduction	IEA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	TAS	8579597
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0051117	Function	ATPase binding	IBA
GO:0051452	Process	Intracellular pH reduction	IEA
GO:0051650	Process	Establishment of vesicle localization	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0070166	Process	Enamel mineralization	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0090383	Process	Phagosome acidification	IEA
GO:0097188	Process	Dentin mineralization	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	NAS	33065002
GO:1902600	Process	Proton transmembrane transport	TAS	8579597

MIM	HGNC	e!Ensembl
604592	11647	ENSG00000110719

Q13488

Protein name

V-type proton ATPase 116 kDa subunit a 3 (V-ATPase 116 kDa subunit a 3) (Osteoclastic proton pump 116 kDa subunit) (OC-116 kDa) (OC116) (T-cell immune regulator 1) (T-cell immune response cDNA7 protein) (TIRC7) (Vacuolar proton translocating ATPase 116 kD

Protein function

Subunit of the V0 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 (By similarity). V-ATPase is responsible

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01496	V_ATPase_I	27 → 825	V-type ATPase 116kDa subunit family	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus.

Sequence

MGSMFRSEEVALVQLFLPTAAAYTCVSRLGELGLVEFRDLNASVSAFQRRFVVDVRRCEE
LEKTFTFLQEEVRRAGLVLPPPKGRLPAPPPRDLLRIQEETERLAQELRDVRGNQQALRA
QLHQLQLHAAVLRQGHEPQLAAAHTDGASERTPLLQAPGGPHQDLRVNFVAGAVEPHKAP
ALERLLWRACRGFLIASFRELEQPLEHPVTGEPATWMTFLISYWGEQIGQKIRKITDCFH
CHVFPFLQQEEARLGALQQLQQQSQELQEVLGETERFLSQVLGRVLQLLPPGQVQVHKMK
AVYLALNQCSVSTTHKCLIAEAWCSVRDLPALQEALRDSSMEEGVSAVAHRIPCRDMPPT
LIRTNRFTASFQGIVDAYGVGRYQEVNPAPYTIITFPFLFAVMFGDVGHGLLMFLFALAM
VLAENRPAVKAAQNEIWQTFFRGRYLLLLMGLFSIYTGFIYNECFSRATSIFPSGWSVAA
MANQSGWSDAFLAQHTMLTLDPNVTGVFLGPYPFGIDPIWSLAANHLSFLNSFKMKMSVI
LGVVHMAFGVVLGVFNHVHFGQRHRLLLETLPELTFLLGLFGYLVFLVIYKWLCVWAARA
ASAPSILIHFINMFLFSHSPSNRLLYPRQEVVQATLVVLALAMVPILLLGTPLHLLHRHR
RRLRRRPADRQEENKAGLLDLPDASVNGWSSDEEKAGGLDDEEEAELVPSEVLMHQAIHT
IEFCLGCVSNTASYLRLWALSLAHAQLSEVLWAMVMRIGLGLGREVGVAAVVLVPIFAAF
AVMTVAILLVMEGLSAFLHALRLHWVEFQNKFYSGTGYKLSPFTFAATDD

Sequence length

830

Interactions

View interactions

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

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Likely pathogenic	rs369264588	RCV001814292	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive osteopetrosis	Likely pathogenic; Pathogenic	rs751881962	RCV004017229	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive osteopetrosis 1	Likely pathogenic; Pathogenic	rs771271907, rs2134432498, rs1214876593, rs903939170, rs2134436277, rs1431956318, rs1182235762, rs2134455254, rs1565164499, rs2134455141, rs1028394725, rs2134462513, rs780311417, rs1590807544, rs2134462969 View all (142 more)	RCV001375479 RCV002246359 RCV004570935 RCV003130516 RCV004570944 View all (160 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chorea-acanthocytosis	Likely pathogenic; Pathogenic	rs774308815	RCV003444632	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs139617644	RCV005889650	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic	rs1554999205	RCV005927722	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis	Pathogenic; Likely pathogenic	rs1028394725, rs139617644, rs137853150, rs2495671613, rs1208311085, rs371263807, rs1159666762, rs1269558164, rs1590817956, rs776436008, rs761918801, rs369264588	RCV001582343 RCV001251404 RCV002307355 RCV005406666 RCV005438018 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TCIRG1-related disorder	Pathogenic; Likely pathogenic	rs2134454279, rs139617644, rs1387903645, rs751881962, rs2495645977, rs1300297240	RCV003978445 RCV003407630 RCV003410050 RCV004748501 RCV003402893 RCV004748893 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs139617644	RCV005927723	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA	—	ClinVar, Orphanet ClinVar, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE OSTEOPETROSIS 6	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital neutropenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Decreased total neutrophil count	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of bone	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSOSTEOSCLEROSIS	—	ClinGen, ClinVar, Disgenet, Orphanet ClinGen, ClinVar, Disgenet, Orphanet ClinGen, ClinVar, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE OSTEOPETROSIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency, nuclear type 2	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, severe congenital, 1, autosomal dominant	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS - INTERMEDIATE TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (109)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agammaglobulinemia	Agammaglobulinemia	Pubtator	19507210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albers-Schonberg Disease, Autosomal Recessive	Albers-Schonberg Osteopetrosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	25834820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30478411, 35699875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	28738127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27229898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27229898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27229898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant severe congenital neutropenia	Congenital Neutropenia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive malignant osteopetrosis	Malignant Osteopetrosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	20543560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	24535816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	20424301, 24535816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	30537558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	24535816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Neoplasms	Bone neoplasm	Pubtator	34545712	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	2556449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33179081	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18398683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	35699875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	30478411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	24753205, 27229898		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital neutropenia	Congenital Neutropenia	CLINVAR_DG	24753205		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24595071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24595071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	29331583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysosteosclerosis	Dysosteosclerosis	BEFREE	30537558		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysosteosclerosis	Dysosteosclerosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalitis	Encephalitis	BEFREE	11737651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36980184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35266851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	19507210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	19507210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	19507210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	24617318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile malignant osteopetrosis	Malignant Osteopetrosis	BEFREE	10888887, 11856654, 12552563, 18946580, 21042819, 22280207, 23907031, 26477479, 28726516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile malignant osteopetrosis	Malignant Osteopetrosis	ORPHANET_DG	15300850, 20424301, 21042819, 23877423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intermediate osteopetrosis	Osteopetrosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29303507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23114595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20124469, 25233467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29303507		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	35699875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30478411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24526664		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Fluctuans (disorder)	Myotonia Fluctuans	BEFREE	27546031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29303507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	23114595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20218987, 9009220	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	24753205, 27229898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia, Severe Congenital, Autosomal Dominant 1	Neutropenia	ORPHANET_DG	24753205		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Dominant 1	Neutropenia	CLINVAR_DG	24753205		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Opsoclonus	Opsoclonus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	16813530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24009010	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	LHGDN	12054167, 15300850		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteopetrosis	Osteopetrosis	BEFREE	12522560, 12566520, 15177004, 15300850, 18715141, 20424301, 22280207, 22499339, 24108692, 24535484, 24535816, 24989235, 25829125, 28816234, 29237407, 30431110 View all (1 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteopetrosis	Osteopetrosis	Pubtator	12566520, 15177004, 18715141, 20424301, 20499337, 24108692, 24535816, 25829125, 27468155, 28816234, 30885997, 31949009, 34545712, 34753502, 35356978, 37107657, 39875016 View all (2 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteopetrosis	Osteopetrosis	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteopetrosis - intermediate type	Osteopetrosis	ORPHANET_DG	24535816, 25829125		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis Autosomal Recessive 1	Osteopetrosis	Pubtator	19507210, 20424301, 25504019, 29237407, 31859718, 34210262, 38335662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis mild autosomal recessive form	Osteopetrosis	Pubtator	12054167, 12507890, 16118345, 18715141, 19172990, 20424301, 23280965, 24535816, 25829125, 28816234, 29237407, 31794943, 31949009, 37672091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis, Autosomal Recessive 1	Osteopetrosis	CLINVAR_DG	10888887, 10942435, 11532986, 12507890, 12552563, 15300850, 18715141, 19507210, 21042819, 22231430, 23721911, 24101165, 24535484, 24989235, 25018813, 25525159, 25829125, 26777052 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 1	Osteopetrosis	UNIPROT_DG	11532986, 12552563, 15300850		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 1	Osteopetrosis	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 1	Osteopetrosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	ORPHANET_DG	24535816, 25829125		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	BEFREE	12054167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	20424301		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otitis Media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28358117, 38238671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25137483, 27509031, 37143720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	23371956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	25504019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	20124469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19130304, 37654227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	27546031		★★★★★ ★☆☆☆☆ Found in Text Mining only

TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3)