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.
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 0
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype Finding 14 4 0.100 None 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 53 6 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		phenotype Finding 12 5 0.100 None 0 1
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 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: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		phenotype Finding 30 1 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 149 5 0.100 None 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype Finding 39 2 0.100 None 0
CUI: C4024164
Disease: Thin ear helix
Thin ear helix 		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: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		disease Anatomical Abnormality 3 2 0.100 None 0
CUI: C4023709
Disease: Sacrococcygeal pilonidal abnormality
Sacrococcygeal pilonidal abnormality 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype Finding 17 8 0.100 None 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		phenotype Finding 41 2 0.100 None 0
CUI: C3150077
Disease: Mild short stature
Mild short stature 		phenotype Finding 25 8 0.100 None 0 1