SNX14, sorting nexin 14, 57231

N. diseases: 59; N. variants: 12
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.
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
disease Disease or Syndrome 1 10 0.610 None 1.000 2 10 2014 2017
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.400 None 1.000 1 2 2015 2015
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.340 None 1.000 4 2014 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.330 None 1.000 3 2014 2016
CUI: C0234357
Disease: Adiadochokinesis
Adiadochokinesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.300 None 1.000 1 2015 2015
CUI: C0750994
Disease: Cerebellar Hemiataxia
Cerebellar Hemiataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.300 None 1.000 1 2015 2015
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2015 2015
CUI: C3668822
Disease: Hypermetria (finding)
Hypermetria (finding)
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2015 2015
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2015 2015
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2015 2015
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.300 None 0
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.300 None 0
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 102 4 0.300 None 0
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 76 3 0.300 None 0
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.300 None 0
Spinocerebellar Ataxia Type 6 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 0.300 None 0
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 7 0.300 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.110 None 1.000 1 1 2015 2015
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.110 None 1.000 1 2015 2015
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1854111
Disease: Broad philtrum
Broad philtrum
phenotype Finding 22 2 0.100 None 0
CUI: C1849667
Disease: Wide nasal base
Wide nasal base
phenotype Finding 12 3 0.100 None 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0