RNF135, ring finger protein 135, 84282

N. diseases: 41; N. variants: 2
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME
disease Disease or Syndrome 1 0.500 limited 1.000 2 2007 2015
CUI: C3150928
Disease: NF1 Microdeletion Syndrome
NF1 Microdeletion Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 0.310 None 1.000 2 2007 2017
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2007 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.100 None 1.000 1 1 2019 2019
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 145 10 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 64 4 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 0
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry
phenotype Finding 10 3 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 106 40 0.100 None 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
disease Finding 40 0.100 None 0
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 17 5 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 30 9 0.100 None 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.100 None 0