RGS6, regulator of G protein signaling 6, 9628

N. diseases: 117; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027830
Disease: neurofibroma
neurofibroma 		0.010 GeneticVariation disease BEFREE The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain. 1280127 1992
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		0.010 GeneticVariation group BEFREE The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain. 1280127 1992
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.100 AlteredExpression disease BEFREE Our results show that two differentially expressed human NF1 mRNAs differ by a 63-bp insertion in the GAP-related domain. 1457041 1992
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE Expression of two types of neurofibromatosis type 1 gene transcripts in gastric cancers and comparison of GAP activities. 1520317 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE The level of total cellular GAP-like activity was reduced in extracts from the tumor line that expresses very little NF1 protein. 1568246 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Two proteins, GAP and the tumor suppressor NF1, interact with p21ras in this region but it is an unresolved puzzle whether either of these is the an unresolved puzzle whether either of these is the effector. 2031288 1991
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.100 AlteredExpression disease BEFREE Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene. 7575561 1995
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		0.010 GeneticVariation disease BEFREE Absence of mutation at the GAP-related domain of the neurofibromatosis type 1 gene in sporadic neurofibrosarcomas and other bone and soft tissue sarcomas. 7621416 1995
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.010 GeneticVariation group BEFREE Absence of mutation at the GAP-related domain of the neurofibromatosis type 1 gene in sporadic neurofibrosarcomas and other bone and soft tissue sarcomas. 7621416 1995
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue 		0.010 GeneticVariation group BEFREE Absence of mutation at the GAP-related domain of the neurofibromatosis type 1 gene in sporadic neurofibrosarcomas and other bone and soft tissue sarcomas. 7621416 1995
CUI: C0220603
Disease: Childhood Brain Neoplasm
Childhood Brain Neoplasm 		0.010 Biomarker disease BEFREE Analysis of the GAP-related domain of the neurofibromatosis type 1 (NF1) gene in childhood brain tumors. 7657385 1995
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 AlteredExpression disease BEFREE Analysis of mutations and expression of GAP-related domain of the neurofibromatosis type 1 (NF1) gene in the progression of chronic myelogenous leukemia. 8207976 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE We hypothesized that, if tumor development is related to the p21 ras being in the active GTP-bound state, then a similar malignant phenotype may result from an inactivating mutation in the ras GAP gene in the region that interacts with ras p21 (so-called catalytic domain). 8270251 1994
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 GeneticVariation disease BEFREE We conclude that mutational inactivation of the catalytic domain of the GAP gene probably does not contribute to the development of lung cancer. 8270251 1994
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 GeneticVariation disease BEFREE We conclude that mutational inactivation of the catalytic domain of the GAP gene probably does not contribute to the development of lung cancer. 8270251 1994
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 GeneticVariation disease BEFREE We conclude that mutational inactivation of the catalytic domain of the GAP gene probably does not contribute to the development of lung cancer. 8270251 1994
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 GeneticVariation disease BEFREE To test this hypothesis, we screened a panel of SCLC and non-SCLC cell lines for major genetic alterations in the catalytic domain of the GAP gene with the Southern blot technique, and for minor genetic abnormalities (e.g., point mutations) with denaturing gradient gel electrophoresis and single-strand conformation polymorphism. 8270251 1994
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 GeneticVariation disease BEFREE To test this hypothesis, we screened a panel of SCLC and non-SCLC cell lines for major genetic alterations in the catalytic domain of the GAP gene with the Southern blot technique, and for minor genetic abnormalities (e.g., point mutations) with denaturing gradient gel electrophoresis and single-strand conformation polymorphism. 8270251 1994
CUI: C1840311
Disease: Laryngeal cleft
Laryngeal cleft 		0.010 Biomarker disease BEFREE Cell lines coexpressing m1 receptors and each of the GAP constructs revealed that GAP proteins do not affect m1 receptor density, receptor ligand binding characteristics or coupling to the PI-PLC signal transduction pathway. 8290270 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 AlteredExpression disease BEFREE Finally, our data in melanoma and breast carcinoma transfection systems suggest that the biochemical mechanism of nm23 suppressive activity is likely not due to its nucleoside diphosphate kinase activity, association with GAP proteins, or secretion from cells. 8347849 1993
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.100 GeneticVariation disease BEFREE The NF1 gene encodes neurofibromin, a GTPase-activating protein containing a GAP-related domain (NF1-GRD) that is capable of down-regulating ras by stimulating its intrinsic GTPase activity. 8499944 1993
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.100 AlteredExpression disease BEFREE Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168 1998
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 Biomarker disease BEFREE Mutational analysis of N-RAS and GAP-related domain of the neurofibromatosis type 1 gene in chronic myelogenous leukemia. 9783802 1998
CUI: C0026936
Disease: Mycoplasma Infections
Mycoplasma Infections 		0.010 GeneticVariation group BEFREE Cloning, sequencing and variability analysis of the gap gene from Mycoplasma hominis. 10650196 2000
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.100 Biomarker disease BEFREE These results support a role for neurofibromin as the critical GAP in the molecular pathogenesis of NF1 astrocytomas. 11005256 2000