RNF125, ring finger protein 125, 54941

N. diseases: 57; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015710
Disease: TENORIO SYNDROME
TENORIO SYNDROME 		0.700 GeneticVariation disease UNIPROT A new overgrowth syndrome is due to mutations in RNF125. 25196541 2014
CUI: C4015710
Disease: TENORIO SYNDROME
TENORIO SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND A new overgrowth syndrome is due to mutations in RNF125. 25196541 2014
CUI: C4015710
Disease: TENORIO SYNDROME
TENORIO SYNDROME 		0.700 CausalMutation disease CLINVAR
CUI: C4015710
Disease: TENORIO SYNDROME
TENORIO SYNDROME 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND A new overgrowth syndrome is due to mutations in RNF125. 25196541 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		0.100 Biomarker disease HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.100 Biomarker disease HPO
CUI: C0034735
Disease: Raynaud Phenomenon
Raynaud Phenomenon 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038362
Disease: Stomatitis
Stomatitis 		0.100 Biomarker disease HPO
CUI: C0039070
Disease: Syncope
Syncope 		0.100 Biomarker phenotype HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0233844
Disease: Clumsiness
Clumsiness 		0.100 Biomarker phenotype HPO
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		0.100 Biomarker phenotype HPO