GFRA1, GDNF family receptor alpha 1, 2674

N. diseases: 73; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 Biomarker disease BEFREE The study focused on genes of potential relevance to enteric nerve (ENS) maturation and Hirschsprung's disease or megacolon, based on the literature (GFRA1, NKX2-1, KIF26A, TPM3, ACTG2, SCN10A, and C17orf107 [CHRNE]) and other genetic variants that co-segregated with megacolon in the six affected family members. 30663199 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 GeneticVariation disease GWASDB Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. 19196962 2009
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 AlteredExpression disease BEFREE In normal infants and normoganglionic colon of patients with HSCR, the expression of GFRA1 was restricted to the glial cells and neurones of the ganglion plexuses. 12065680 2002
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 AlteredExpression disease LHGDN Glial cell line-derived neurotrophic factor family receptors are abnormally expressed in aganglionic bowel of a subpopulation of patients with Hirschsprung's disease. 12065680 2002
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 Biomarker disease BEFREE Targeted mutagenesis in transgenic mice has shown that Ret, GFR alpha 1 and GDNF are required for multiple developmental events including development of the enteric nervous system (ENS) affected in Hirschsprung's disease. 10812967 2000
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 GeneticVariation disease BEFREE Our data suggest that mutations of the GFR alpha-1 gene are not a common aetiological event in HSCR. 10204848 1999
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 GeneticVariation disease BEFREE We have mapped GFRA1 to human chromosome 10q25, isolated human and mouse genomic clones, determined the gene's intron-exon boundaries, isolated a highly polymorphic microsatellite marker adjacent to exon 7, and scanned for GFRA1 mutations in a large panel of HSCR patients. 9545641 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 Biomarker disease MGD GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys. 9728913 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 Biomarker disease BEFREE In order to test if Gfra1 could be the Dom gene or if it represents a new possible HSCR locus we have undertaken the mapping of the mouse Gfra1. 9465906 1997
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.370 Biomarker disease BEFREE De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. 8968758 1996
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 GeneticVariation disease BEFREE Furthermore, we found an overtransmission of the G-C GFRA1 rs7920934-rs730357 haplotype to subjects with schizophrenia and association of A-T-G-G GFRA3 rs10036665-rs10952-rs11242417-rs7726580 with schizophrenia in the case-control sample. 20116071 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET Furthermore, we found an overtransmission of the G-C GFRA1 rs7920934-rs730357 haplotype to subjects with schizophrenia and association of A-T-G-G GFRA3 rs10036665-rs10952-rs11242417-rs7726580 with schizophrenia in the case-control sample. 20116071 2010
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0027796
Disease: Neuralgia
Neuralgia 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0038870
Disease: Neuralgia, Supraorbital
Neuralgia, Supraorbital 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0042656
Disease: Neuralgia, Vidian
Neuralgia, Vidian 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0234247
Disease: Neuralgia, Atypical
Neuralgia, Atypical 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0234249
Disease: Neuralgia, Stump
Neuralgia, Stump 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0423711
Disease: Neuralgia, Perineal
Neuralgia, Perineal 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0423712
Disease: Neuralgia, Iliohypogastric Nerve
Neuralgia, Iliohypogastric Nerve 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0751371
Disease: Neuralgia, Ilioinguinal
Neuralgia, Ilioinguinal 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0751372
Disease: Nerve Pain
Nerve Pain 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0751373
Disease: Paroxysmal Nerve Pain
Paroxysmal Nerve Pain 		0.300 Biomarker phenotype CTD_human Pharmacological characterization and gene expression profiling of an L5/L6 spinal nerve ligation model for neuropathic pain in mice. 18400411 2008
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.210 GeneticVariation group BEFREE This study aimed to further understand the role of relative telomere length (RTL) in susceptibility to stroke and investigate the association regulator of telomere elongation helicase 1 (RETL1) gene polymorphisms and RTL. 30345460 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.210 Biomarker group RGD In this study, we examined the levels of expression of GFRalpha-1 and c-Ret in a rat model of stroke. 11476594 2001