RNF135, ring finger protein 135, 84282

N. diseases: 41; N. variants: 2
Disease: MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280095
Disease: MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME
MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME 		0.500 Biomarker disease GENOMICS_ENGLAND Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism. 26368817 2015
CUI: C3280095
Disease: MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME
MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME 		0.500 Biomarker disease GENOMICS_ENGLAND Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. 17632510 2007
CUI: C3280095
Disease: MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME
MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME 		0.500 GermlineCausalMutation disease ORPHANET Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. 17632510 2007