GNA11 (G protein subunit alpha 11)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 2767
• Gene name: G protein subunit alpha 11
• Gene symbol: GNA11
• Synonyms (NCBI Gene): FBH, FBH2, FHH2, GNA-11, HG1K, HHC2, HYPOC2
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma.

SNPs Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140749796	C>G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs587777019	T>A	Pathogenic	Coding sequence variant, missense variant
rs587777020	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777021	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777022	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs587777707	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs672601249	ATC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1057519742	A>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1555702147	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2003165	hsa-miR-1253	CLIP-seq
MIRT2003166	hsa-miR-18a	CLIP-seq
MIRT2003167	hsa-miR-18b	CLIP-seq
MIRT2003168	hsa-miR-4735-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001508	Process	Action potential	IBA
GO:0001508	Process	Action potential	IEA
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	8530500
GO:0003925	Function	G protein activity	IDA	31073061
GO:0003925	Function	G protein activity	IEA
GO:0005515	Function	Protein binding	IPI	18703424
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	18703424
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9175863
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005886	Component	Plasma membrane	IDA	18703424
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9175863
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	8530500
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	31073061
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007207	Process	Phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	20966218
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	ISS
GO:0007507	Process	Heart development	IEA
GO:0007603	Process	Phototransduction, visible light	ISS
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0009649	Process	Entrainment of circadian clock	ISS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0030234	Function	Enzyme regulator activity	IDA	31073061
GO:0030234	Function	Enzyme regulator activity	IEA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0045202	Component	Synapse	IEA
GO:0045634	Process	Regulation of melanocyte differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IBA
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0071467	Process	Cellular response to pH	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IEA

Other IDs

• MIM: 139313
• HGNC: 4379
• e!Ensembl: ENSG00000088256

Protein

• UniProt ID: P29992
• Protein name: Guanine nucleotide-binding protein subunit alpha-11 (G alpha-11) (G-protein subunit alpha-11) (EC 3.6.5.-) (Guanine nucleotide-binding protein G(y) subunit alpha)
• Protein function: Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alterna
• PDB: 6OIJ , 7RKF , 7TRY , 7XXH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00503	G-alpha	16 → 348	G-protein alpha subunit	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:18703424}.
• Sequence:

  MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMR
  IIHGAGYSEEDKRGFTKLVYQNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEK
  VTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYYLTDVDRIATLGYLPTQQDVL
  RVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
  ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQR
  DAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

• Sequence length: 359

Pathways

KEGG Pathway	Reactome Pathway
Calcium signaling pathway	Acetylcholine regulates insulin secretion
cGMP-PKG signaling pathway	G alpha (q) signalling events
Hormone signaling	ADP signalling through P2Y purinoceptor 1
Vascular smooth muscle contraction	Thromboxane signalling through TP receptor
Gap junction	Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
Cholinergic synapse	Thrombin signalling through proteinase activated receptors (PARs)
Long-term depression
Insulin secretion
GnRH signaling pathway
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Cushing syndrome
Growth hormone synthesis, secretion and action
Chagas disease
Amoebiasis
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant hypocalcemia 2	Likely pathogenic; Pathogenic	rs1335558363, rs587777707, rs140749796, rs587777021, rs587777022	RCV005014615 RCV000144048 RCV000054477 RCV000054478 RCV000054479	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypocalciuric hypercalcemia 2	Likely pathogenic; Pathogenic	rs1335558363, rs672601249, rs587777019, rs587777021	RCV001706737 RCV000054474 RCV000054475 RCV002504951	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs1057519742	RCV005230290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic	rs2145326448	RCV005931964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Venous malformation	Pathogenic	rs2145325982	RCV004566501	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (26)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANASTOMOSING HAEMANGIOMA	—	Orphanet	31189994	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HYPOCALCEMIA	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	23802516, 23802516	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCIUM METABOLISM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Capillary malformation	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CLOVES syndrome	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY OF VEIN	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEMANGIOMA	—	CTD	27058448	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS MARMORATA TELANGIECTATICA CONGENITA	—	Disgenet, Orphanet Disgenet, Orphanet	35351629	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 2	—	Orphanet	23802516	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GNA11-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	9687499	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2	—	Disgenet, HPO Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 2	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II	—	HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobular capillary hemangiomas	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	23432625	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; -	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel syndrome type 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHWARTZ-JAMPEL SYNDROME, TYPE 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Segmental undergrowth associated with capillary malformation	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	CTD, Orphanet CTD, Orphanet	21083380, 22733540, 26397223, 27089179, 23714557	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (126)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	24708097, 24823460, 27334330, 27647839		★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypocalcemia	Hypocalcemia	BEFREE	23802516, 24708097, 31820785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant hypocalcemia	Hypocalcemia	ORPHANET_DG	23802516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant hypocalcemia	Hypocalcemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	29206651		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24297604	Associate	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	28120216		★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	37750536	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	28012237		★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	34031065	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortex myoclonus	Cerebral Cortex Myoclonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	20454457		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	9687499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hemangioma	Congenital Hemangioma	BEFREE	27058448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hemangioma	Congenital Hemangioma	GENOMICS_ENGLAND_DG	27058448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital lamellar cataract	Congenital Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	24423917, 24697775, 24882515		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata telangiectatica congenita	Cutis marmorata telangiectatica congenita	Pubtator	35700413	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30054423		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioid and spindle cell nevus	Spitz nevus	BEFREE	23599145		★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	BEFREE	28295484		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33457096	Associate	★☆☆☆☆ Found in Text Mining only
Familial benign hypercalcemia	Hypocalciuric hypercalcemia	BEFREE	23802516, 25104082, 26729423, 27913609, 28176280, 28833550, 8445032		★☆☆☆☆ Found in Text Mining only
Familial hypocalciuric hypercalcemia type 2	Hypocalciuric Hypercalcemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	27334330	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37053535	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27334330	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	31189994		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	27476652, 28295484		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	34385710	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	23802516, 28833550, 29046478, 6253580, 8445032		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	23802516, 28833550	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypermagnesemia	Hypermagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	26163537, 28122587		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	37810884	Associate	★☆☆☆☆ Found in Text Mining only
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	BEFREE	15200151, 9920407		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	25104082, 27913609, 8445032		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	36440997	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	23802516, 26818911, 27334330	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalcemia Autosomal Dominant with Bartter Syndrome	Hypocalcemia	Pubtator	23802516, 24708097	Associate	★☆☆☆☆ Found in Text Mining only
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1	Hypocalcemia	ORPHANET_DG	23802516		★☆☆☆☆ Found in Text Mining only
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME	Hypocalcemia	ORPHANET_DG	23802516		★☆☆☆☆ Found in Text Mining only
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2	Hypocalcemia	GENOMICS_ENGLAND_DG	23782177, 23802516, 26729423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2	Hypocalcemia	UNIPROT_DG	23782177, 23802516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2	Hypocalcemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocalciuric hypercalcemia	Hypocalciuric Hypercalcemia	BEFREE	9920407		★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia familial type 1	Hypocalciuric hypercalcemia	Pubtator	23802516, 26729423, 31723423	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia familial type 2	Hypocalciuric hypercalcemia	Pubtator	23802516, 24708097, 26729423, 26994139, 28833550	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	20133464, 23802516, 24708097, 24731014, 25104082, 26729423, 26963950, 27647839, 27913609, 28176280, 28833550		★☆☆☆☆ Found in Text Mining only
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)	Hypocalciuric hypercalcemia	GENOMICS_ENGLAND_DG	23782177, 26729423		★☆☆☆☆ Found in Text Mining only
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)	Hypocalciuric hypercalcemia	ORPHANET_DG	23802516		★☆☆☆☆ Found in Text Mining only
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)	Hypocalciuric hypercalcemia	UNIPROT_DG	23802516		★☆☆☆☆ Found in Text Mining only
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)	Hypocalciuric hypercalcemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)	Hypocalciuric hypercalcemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	28122587		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	30137364	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	BEFREE	28938448		★☆☆☆☆ Found in Text Mining only
Inferior lens subluxation	Inferior lens subluxation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	26818911	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30601876	Associate	★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	ORPHANET_DG	21083380, 23714557		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant melanoma of ciliary body	Ciliary body melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	ORPHANET_DG	21083380, 23714557		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	BEFREE	28700778		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	25588929		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12759536, 29206651		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23177739, 24882515, 28223438, 30008023, 30204251, 31277366		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CLINVAR_DG	1328859, 21083380, 22733540, 22808163, 2549426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	21083380, 21482206, 23640210, 23778528, 24274719, 24423917, 24458518, 24697775, 25030020, 25280020, 25315378, 25769001, 26743478, 26825879, 27273450, 28012237, 28223438, 28409567, 29209985, 29490280, 30054423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	22236444, 22536370, 24345920, 26076063, 26084293, 26368812, 26743478, 27089234, 29371009, 30054423, 30558566, 30601876, 34031065, 35642348, 35835335, 37053535	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	23432625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	26825879, 35512098	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	25588929	Associate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	27476652	Associate	★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	BEFREE	27498141		★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25159868		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22808163, 22977135, 23887304, 23934701, 24423917, 24697775, 26825879, 27117140, 27439913, 28248732		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	30920161		★☆☆☆☆ Found in Text Mining only
Nevus, Blue	Blue Nevus	BEFREE	21083380, 26743478, 28409567, 30315589		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29170526	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	28295484		★☆☆☆☆ Found in Text Mining only
Phakomatosis cesioflammea	Phakomatosis Cesioflammea	ORPHANET_DG	26778290		★☆☆☆☆ Found in Text Mining only
Phakomatosis cesioflammea	Phakomatosis Cesioflammea	Orphanet			★☆☆☆☆ Found in Text Mining only
Phakomatosis cesiomarmorata	Phakomatosis Cesiomarmorata	ORPHANET_DG	26778290		★☆☆☆☆ Found in Text Mining only
Phakomatosis cesiomarmorata	Phakomatosis Cesiomarmorata	Orphanet			★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	24423332		★☆☆☆☆ Found in Text Mining only
Port-wine stain with oculocutaneous melanosis	Phakomatosis pigmentovascularis	BEFREE	26778290, 30920161		★☆☆☆☆ Found in Text Mining only
Port-wine stain with oculocutaneous melanosis	Phakomatosis pigmentovascularis	GENOMICS_ENGLAND_DG	26778290		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile angioma	Angioma	BEFREE	30601876, 31189994		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32737449	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	30920161		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	21083380, 22236444, 23177739, 23443802, 23456173, 23464620, 23634288, 23685997, 23778528, 23887304, 24141786, 24413085, 24697775, 25280020, 25304237, 25315378, 25653058, 25756553, 25764247, 26113083, 26368812, 26397223, 26683228, 26825879, 27058448, 28223438, 28248732, 28444874, 28982892, 29206651, 29490280, 30008023, 30320917, 30525429, 30773340, 31173078, 31394807, 31614358, 31671564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	ORPHANET_DG	21083380, 23714557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	CLINVAR_DG	21444680, 24141786, 25157968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	21828154, 21945171, 22236444, 22977135, 23634288, 23778528, 23887304, 24423917, 25030020, 25280020, 25315378, 25653058, 25764247, 25769001, 26059332, 26368812, 26683228, 26744134, 26769193, 26825879, 26994139, 27058448, 27123562, 27745836, 28444874, 29209985, 29726589, 30008023, 30571927, 30601876, 30760858, 31227497, 32277165, 32415113, 33348918, 34031065, 34533562, 35352024, 35512098, 36596361, 37467061, 37923138, 38126027, 38644411	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	CTD_human_DG	22733540, 26397223, 27089179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	37750536	Associate	★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

GNAQ 5 shared diseasesAnastomosing haemangioma, Capillary malformation, Congenital heart defects, Congenital hemangioma, Uveal melanoma 25 shared pathwaysCalcium signaling pathway, cGMP-PKG signaling pathway, Hormone signaling, Vascular smooth muscle contraction, Gap junction, Cholinergic synapse, Long-term depression, Insulin secretion, GnRH signaling pathway, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, Parathyroid hormone synthesis, secretion and action +13 more 7 shared evidence sourcesOrphanet (Anastomosing haemangioma), Disgenet (Capillary malformation), Disgenet (Congenital heart defects), CTD (Congenital heart defects), CTD (Melanoma), CTD (Uveal melanoma), Orphanet (Uveal melanoma) Related via 25 shared pathways including Calcium signaling pathway, cGMP-PKG signaling pathway — evidence mostly CTD. CASR 3 shared diseasesHypocalcemia, Calcium metabolism disorders, Hypocalciuric hypercalcemia 2 shared pathwaysParathyroid hormone synthesis, secretion and action, G alpha (q) signalling events 12 shared evidence sourcesDisgenet (Hypocalcemia), GWAS catalog (Hypocalcemia), Orphanet (Hypocalcemia), ClinVar (Hypocalcemia), Disgenet (Calcium metabolism disorders), ClinVar (Hypocalciuric hypercalcemia), GWAS catalog (Hypocalciuric hypercalcemia), Orphanet (Hypocalciuric hypercalcemia), HPO (Hypocalcemia), Disgenet (Hypocalciuric hypercalcemia), CTD (Hypocalciuric hypercalcemia), HPO (Hypocalciuric hypercalcemia) Related via 3 shared diseases including Hypocalcemia, Calcium metabolism disorders — evidence mostly Disgenet. AP2S1 2 shared diseasesCalcium metabolism disorders, Hypocalciuric hypercalcemia 6 shared evidence sourcesDisgenet (Calcium metabolism disorders), ClinVar (Hypocalciuric hypercalcemia), GWAS catalog (Hypocalciuric hypercalcemia), Orphanet (Hypocalciuric hypercalcemia), Disgenet (Hypocalciuric hypercalcemia), HPO (Hypocalciuric hypercalcemia) Related via 2 shared diseases including Calcium metabolism disorders, Hypocalciuric hypercalcemia — evidence mostly Disgenet. GNA14 1 shared diseaseAnastomosing haemangioma 10 shared pathwaysCalcium signaling pathway, Hormone signaling, Chagas disease, Amoebiasis, G alpha (q) signalling events, Thromboxane signalling through TP receptor, Thrombin signalling through proteinase activated receptors (PARs), ADP signalling through P2Y purinoceptor 1, Acetylcholine regulates insulin secretion, Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion 1 shared evidence sourceOrphanet (Anastomosing haemangioma) Related via 10 shared pathways including Calcium signaling pathway, Hormone signaling — evidence mostly Orphanet. GNA15 10 shared pathwaysCalcium signaling pathway, Hormone signaling, Chagas disease, Amoebiasis, G alpha (q) signalling events, Thromboxane signalling through TP receptor, Thrombin signalling through proteinase activated receptors (PARs), ADP signalling through P2Y purinoceptor 1, Acetylcholine regulates insulin secretion, Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion Related via 10 shared pathways including Calcium signaling pathway, Hormone signaling.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GNAQ	5	["Anastomosing haemangioma","Capillary malformation","Congenital heart defects","Congenital hemangioma","Uveal melanoma"]	25	["Calcium signaling pathway","cGMP-PKG signaling pathway","Hormone signaling","Vascular smooth muscle contraction","Gap junction","Cholinergic synapse","Long-term depression","Insulin secretion","GnRH signaling pathway","Aldosterone synthesis and secretion","Cortisol synthesis and secretion","Parathyroid hormone synthesis, secretion and action"]	7	["Orphanet (Anastomosing haemangioma)","Disgenet (Capillary malformation)","Disgenet (Congenital heart defects)","CTD (Congenital heart defects)","CTD (Melanoma)","CTD (Uveal melanoma)","Orphanet (Uveal melanoma)"]
CASR	3	["Hypocalcemia","Calcium metabolism disorders","Hypocalciuric hypercalcemia"]	2	["Parathyroid hormone synthesis, secretion and action","G alpha (q) signalling events"]	12	["Disgenet (Hypocalcemia)","GWAS catalog (Hypocalcemia)","Orphanet (Hypocalcemia)","ClinVar (Hypocalcemia)","Disgenet (Calcium metabolism disorders)","ClinVar (Hypocalciuric hypercalcemia)","GWAS catalog (Hypocalciuric hypercalcemia)","Orphanet (Hypocalciuric hypercalcemia)","HPO (Hypocalcemia)","Disgenet (Hypocalciuric hypercalcemia)","CTD (Hypocalciuric hypercalcemia)","HPO (Hypocalciuric hypercalcemia)"]
AP2S1	2	["Calcium metabolism disorders","Hypocalciuric hypercalcemia"]	0	[]	6	["Disgenet (Calcium metabolism disorders)","ClinVar (Hypocalciuric hypercalcemia)","GWAS catalog (Hypocalciuric hypercalcemia)","Orphanet (Hypocalciuric hypercalcemia)","Disgenet (Hypocalciuric hypercalcemia)","HPO (Hypocalciuric hypercalcemia)"]
GNA14	1	["Anastomosing haemangioma"]	10	["Calcium signaling pathway","Hormone signaling","Chagas disease","Amoebiasis","G alpha (q) signalling events","Thromboxane signalling through TP receptor","Thrombin signalling through proteinase activated receptors (PARs)","ADP signalling through P2Y purinoceptor 1","Acetylcholine regulates insulin secretion","Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion"]	1	["Orphanet (Anastomosing haemangioma)"]
GNA15	0	[]	10	["Calcium signaling pathway","Hormone signaling","Chagas disease","Amoebiasis","G alpha (q) signalling events","Thromboxane signalling through TP receptor","Thrombin signalling through proteinase activated receptors (PARs)","ADP signalling through P2Y purinoceptor 1","Acetylcholine regulates insulin secretion","Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion"]	0	[]

Diseases Linked via Similar Genes

Bipolar disorder Linked via 2 of 5 related genesGNAQ, GNA14 Heart failure Linked via 2 of 5 related genesGNAQ, GNA15 Asthma Linked via 2 of 5 related genesCASR, GNA15 Benign hypercalcemia Linked via 2 of 5 related genesCASR, AP2S1 Neurodevelopmental disorder Linked via 2 of 5 related genesCASR, AP2S1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Bipolar disorder	2	["GNAQ","GNA14"]
Heart failure	2	["GNAQ","GNA15"]
Asthma	2	["CASR","GNA15"]
Benign hypercalcemia	2	["CASR","AP2S1"]
Neurodevelopmental disorder	2	["CASR","AP2S1"]