Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
0.380 GeneticVariation disease BEFREE Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. 26595427 2016
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
0.380 Biomarker disease CTD_human We identified a homozygous GNRH1 frameshift mutation, an insertion of an adenine at nucleotide position 18 (c.18-19insA), in the sequence encoding the N-terminal region of the signal peptide-containing protein precursor of gonadotropin-releasing hormone (prepro-GnRH) in a teenage brother and sister, who had normosmic IHH. 19535795 2009
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
0.380 GeneticVariation disease BEFREE We identified a homozygous GNRH1 frameshift mutation, an insertion of an adenine at nucleotide position 18 (c.18-19insA), in the sequence encoding the N-terminal region of the signal peptide-containing protein precursor of gonadotropin-releasing hormone (prepro-GnRH) in a teenage brother and sister, who had normosmic IHH. 19535795 2009
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
0.380 GeneticVariation disease BEFREE GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 19567835 2009
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
0.380 GeneticVariation disease BEFREE We concluded that: 1) genetic analysis has excluded sequence variations in GNRH1 and GNRHR in four families with recessive IHH, suggesting the existence of a novel, as-yet-undiscovered gene for this condition, and 2) because mutation analysis of genomic coding sequence will fail to detect mutations deep within introns or regulatory regions, haplotype analysis is the preferred genetic methodology to eliminate the role of specific candidate genes. 12788881 2003
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
0.380 Biomarker disease BEFREE The GnRH gene was excluded as a candidate gene in IHH since no abnormality was found in several patients. 10698591 1999
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
0.380 GeneticVariation disease BEFREE We conclude that most cases of IHH in humans do not involve mutations in the GnRH gene and are presumably caused by mutations at one or more other genetic loci that are required for normal function of GnRH-producing neurons. 1756212 1991
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
0.380 GeneticVariation disease BEFREE We examined the GnRH gene structure in a family with familial central precocious puberty (eight members, four affected) and a family with idiopathic hypogonadotropic hypogonadism (eight members, three affected) using Southern blot analysis and sequencing of cloned polymerase chain reaction products. 2186053 1990
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
0.380 GeneticVariation disease BEFREE We conclude that a major rearrangement of the GnRH gene is not a common basis for IHH in humans. 2546961 1989