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 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
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE 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
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 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 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 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 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 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 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
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 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 Activating mutations in LHCGR cause familial male-limited precocious puberty (FMPP). 28339861 2017
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Activating mutations in the luteinizing hormone receptor gene (LHCGR) cause high autonomous testosterone secretion, resulting in early-onset peripheral precocious puberty. 29029242 2017
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 Biomarker disease CTD_human Activating mutations in the luteinizing hormone receptor gene: a human model of non-follicle-stimulating hormone-dependent inhibin production and germ cell maturation. 16684832 2006
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 AlteredExpression disease BEFREE Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). 10704433 2000