Disease: Kallmann Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.340 Biomarker disease BEFREE Even though it is a genotypically and phenotypically heterogeneous clinical disease, there are some key genes related to KS (KAL1, FGFR1 (KAL2), GNRHR, KISSR1 (GPR54), GNRH1, NELF and PROK2). 24776628 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.340 Biomarker disease BEFREE Our findings suggest that NELF is associated with normosmic IHH and KS, either singly or in combination with a mutation in another gene. 21300340 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.340 GermlineCausalMutation disease ORPHANET Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 17235395 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.340 GeneticVariation disease BEFREE Nasal embryonic LHRH factor (NELF) and early B-cell factor 2 (EBF2) exons were evaluated in KAL-1/GnRH-R mutation-negative cases (seven KS and five nHH) by sequence analysis but no mutations were identified in the coding regions in these patients. 16423815 2005
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.340 Biomarker disease BEFREE As the mouse nasal embryonic LHRH factor gene (Nelf) encodes a guidance molecule for the migration of the olfactory axon and gonadotropin-releasing hormone neurons, its human homolog, NELF, is a candidate gene for Kallmann syndrome, a disease of idiopathic hypogonadotropic hypogonadism (IHH) with anosmia or hyposmia. 15362570 2004