GNRH1, gonadotropin releasing hormone 1, 2796

N. diseases: 179; N. variants: 2
Disease: Cartilage-hair hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.010 Biomarker disease BEFREE Mutations in five genes have been found specifically in Kallmann's syndrome, a disorder in which CHH is related to abnormal GNRH neuron ontogenesis and is associated with anosmia or hyposmia. 20207726 2010