HHAT, hedgehog acyltransferase, 55733

N. diseases: 75; N. variants: 5
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group BEFREE ZNF589 belongs to KRAB-domain zinc-finger proteins previously implicated in ID, HHAT is predicted to affect sonic hedgehog, which is involved in several disorders with ID, KMT2B associated with syndromic ID fits the epigenetic module underlying the Kleefstra syndromic spectrum. 25405613 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO