GNA11, G protein subunit alpha 11, 2767

N. diseases: 122; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 Biomarker disease GENOMICS_ENGLAND A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). 26729423 2016
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 Biomarker disease GENOMICS_ENGLAND A rude awakening--the perioperative sleep apnea epidemic. 23782177 2013
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
CUI: C1840347
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1840347
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND A rude awakening--the perioperative sleep apnea epidemic. 23782177 2013
CUI: C1840347
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). 26729423 2016
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
Port-wine stain with oculocutaneous melanosis 		0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
Port-wine stain with oculocutaneous melanosis 		0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
Port-wine stain with oculocutaneous melanosis 		0.320 Biomarker disease GENOMICS_ENGLAND Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. 26778290 2016
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma 		0.310 Biomarker disease GENOMICS_ENGLAND Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. 27058448 2016
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation disease UNIPROT A rude awakening--the perioperative sleep apnea epidemic. 23782177 2013
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation disease UNIPROT Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
CUI: C1840347
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		0.700 GeneticVariation disease UNIPROT Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 SomaticCausalMutation disease ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 SomaticCausalMutation disease ORPHANET Mutations affecting Q209 in GNA11 were present in 7% of blue nevi, 32% of primary uveal melanomas, and 57% of uveal melanoma metastases. 21083380 2010
CUI: C1840347
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		0.700 GermlineCausalMutation disease ORPHANET Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 SomaticCausalMutation disease ORPHANET Mutations in GNA11 in uveal melanoma. 21083380 2010
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 SomaticCausalMutation disease ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557 2013
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid 		0.400 SomaticCausalMutation disease ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557 2013
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid 		0.400 SomaticCausalMutation disease ORPHANET Mutations in GNA11 in uveal melanoma. 21083380 2010
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		0.330 GermlineCausalMutation disease ORPHANET All four GNA11 mutations predicted disrupted protein structures, and assessment on the basis of in vitro expression showed that familial hypocalciuric hypercalcemia type 2-associated mutations decreased the sensitivity of cells expressing calcium-sensing receptors to changes in extracellular calcium concentrations, whereas autosomal dominant hypocalcemia type 2-associated mutations increased cell sensitivity. 23802516 2013
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.300 GermlineCausalMutation disease ORPHANET Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
CUI: C3838883
Disease: Phakomatosis cesioflammea
Phakomatosis cesioflammea 		0.300 SomaticCausalMutation disease ORPHANET Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. 26778290 2016
CUI: C3839296
Disease: Phakomatosis cesiomarmorata
Phakomatosis cesiomarmorata 		0.300 SomaticCausalMutation disease ORPHANET Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. 26778290 2016
CUI: C4552089
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME 		0.300 GermlineCausalMutation disease ORPHANET Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013