Disease: Familial Testotoxicosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease CLINVAR
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 CausalMutation disease CLINVAR
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Recently, a single point mutation in the LH/hCG receptor (LH/CGR) gene was found in FMPP families that constitutively activates the LH/CGR, causing Leydig cell activation and precocious puberty. 7527413 1994
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. 7593421 1995
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. 7629248 1995
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. 7629248 1995
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. 7692306 1993
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 Biomarker disease CTD_human A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. 7692306 1993
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. 7714085 1995
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. 7714085 1995
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. 7757065 1995
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. 7892197 1995
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. 8281137 1993
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. 8281137 1993
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE We describe a Japanese patient with male-limited precocious puberty who has a heterozygous thymine to cytosine (T to C) transition at nucleotide 1193; the mutation encodes a methionine to threonine substitution in residue 398 (M398T) of transmembrane helix 2 of the luteinizing hormone/choriogonadotropin receptor. 8607787 1996
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty. 8812739 1996
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty. 8829636 1996
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease 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
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty. 9467560 1998
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. 9661624 1998
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. 9661624 1998
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity. 9973550 1999