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 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 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 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 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 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 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 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 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 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