Disease: Familial Testotoxicosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty. 11391350 2001
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix. 11134146 2000
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty. 9467560 1998
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. 9661624 1998
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. 8929952 1996
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty. 8829636 1996
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. 7714085 1995
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. 7629248 1995
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. 7757065 1995
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. 8281137 1993
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 GeneticVariation UNIPROT A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. 7692306 1993
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
0.800 CausalMutation CLINVAR