SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
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.
Allan-Herndon-Dudley syndrome (AHDS)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 29 1.000 definitive 1.000 58 29 2004 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.300 None 1.000 1 2014 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.300 None 1.000 1 2016 2016
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.180 None 1.000 8 2006 2018
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.150 None 1.000 5 2006 2017
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.140 None 1.000 4 1 2006 2015
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.120 None 1.000 2 2009 2015
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.110 None 1.000 1 2008 2008
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.110 None 1.000 1 1 2014 2014
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation
phenotype Mental or Behavioral Dysfunction 22 3 0.100 None 1.000 17 2004 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 15 1 1990 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 15 1 1990 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 15 1 1990 2016
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0586553
Disease: Raised TSH level
Raised TSH level
phenotype Endocrine System Diseases Finding 13 0.100 None 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
phenotype Finding 7 5 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
CUI: C0240414
Disease: Hypoplasia of muscle
Hypoplasia of muscle
phenotype Finding 6 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
Bilateral single transverse palmar creases
phenotype Finding 65 1 0.100 None 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 26 0.100 None 0