MRGPRF, MAS related GPR family member F, 116535

N. diseases: 36; N. variants: 0
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 		0.020 Biomarker group BEFREE Recessive mixed proximal-distal RTA accompanied by osteopetrosis and mental retardation is associated with mutations in cytoplasmic carbonic anhydrase II. 11826292 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 Biomarker group BEFREE Mutations in carbonic anhydrase II gene lead to osteopetrosis, RTA (pRTA, distal RTA or combined proximal and distal RTA), cerebral calcification, and mental retardation. 12027212 2002