RNF135, ring finger protein 135, 84282

N. diseases: 41; N. variants: 2
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
CUI: C3150928
Disease: NF1 Microdeletion Syndrome
NF1 Microdeletion Syndrome 		0.310 Biomarker disease BEFREE These findings suggest that RNF135 haploinsufficiency is related to overgrowth in patients with NF1 microdeletion syndrome and, for the first time, strongly indicate a position effect that warrants further genotype-phenotype correlation studies to investigate the possible existence of previously unknown pathogenic mechanisms. 28776093 2017
CUI: C3150928
Disease: NF1 Microdeletion Syndrome
NF1 Microdeletion Syndrome 		0.310 Biomarker disease CTD_human Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. 17632510 2007
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		0.300 Biomarker group CTD_human Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. 17632510 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.100 CausalMutation disease CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456 2019
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		0.100 Biomarker disease HPO
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.100 Biomarker disease HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.100 Biomarker phenotype HPO
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.100 Biomarker phenotype HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		0.100 Biomarker phenotype HPO
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.100 Biomarker phenotype HPO
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 Biomarker phenotype HPO
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		0.100 Biomarker phenotype HPO