RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
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.
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
disease Disease or Syndrome 1 2 0.400 strong 1.000 1 2 2012 2012
Sacrococcygeal pilonidal abnormality
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4023736
Disease: 2-5 finger syndactyly
2-5 finger syndactyly
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4024164
Disease: Thin ear helix
Thin ear helix
phenotype Anatomical Abnormality 1 0.100 None 0
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
disease Disease or Syndrome 2 7 0.700 None 1.000 3 7 2012 2018
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
disease Anatomical Abnormality 3 2 0.100 None 0
Microcephaly with Simplified Gyral Pattern
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone
phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C0240701
Disease: Small penis
Small penis
phenotype Finding 11 2 0.100 None 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Finding 11 6 0.100 None 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly
phenotype Finding 12 5 0.100 None 0 1
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive
phenotype Finding 14 4 0.100 None 0
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney
disease Congenital Abnormality 15 1 0.100 None 0
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia
phenotype Finding 17 8 0.100 None 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality 25 9 0.040 None 1.000 4 2015 2018
CUI: C3150077
Disease: Mild short stature
Mild short stature
phenotype Finding 25 8 0.100 None 0 1
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia
phenotype Finding 30 1 0.100 None 0
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 31 6 0.100 None 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 11 0.100 None 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 37 2 0.100 None 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 39 9 0.350 strong 1.000 6 1 2012 2018
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 39 2 0.100 None 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge
phenotype Finding 39 2 0.100 None 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification
phenotype Finding 39 2 0.100 None 0
Attenuation of retinal blood vessels
phenotype Finding 41 2 0.100 None 0