CLCN4, chloride voltage-gated channel 4, 1183

N. diseases: 22; N. variants: 0
Disease: Chondrodysplasia Punctata ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		0.010 GeneticVariation disease BEFREE The boy manifested, due to nullisomy of this region, short stature (SHOX), chondrodysplasia punctata (ARSE), and mental retardation (putative mental retardation gene MRX 49). 10232745 1999