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.
CUI: C0235909
Disease: Impaired psychomotor development
Impaired psychomotor development 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2017 2017
CUI: C1862689
Disease: Stahl ear
Stahl ear 		disease Congenital Abnormality 2 0.100 None 0
CUI: C4024655
Disease: Underfolded superior helices
Underfolded superior helices 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0024043
Disease: Low T3 Syndrome
Low T3 Syndrome 		disease Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2009 2009
CUI: C3649644
Disease: Congenital condition
Congenital condition 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
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: C0240414
Disease: Hypoplasia of muscle
Hypoplasia of muscle 		phenotype Finding 6 0.100 None 0
CUI: C1845272
Disease: Prominent antihelix
Prominent antihelix 		phenotype Finding 6 0.100 None 0
CUI: C0857516
Disease: Floppy
Floppy 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2014 2014
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		phenotype Finding 7 5 0.100 None 0
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		disease Disease or Syndrome 10 0.010 None 1.000 1 2009 2009
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2008 2008
CUI: C0586553
Disease: Raised TSH level
Raised TSH level 		phenotype Endocrine System Diseases Finding 13 0.100 None 0
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.010 None 1.000 1 2005 2005
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		disease Anatomical Abnormality 21 4 0.100 None 0
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: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		disease Endocrine System Diseases Disease or Syndrome 25 5 0.030 None 1.000 3 2007 2011
CUI: C0221163
Disease: Motor Disorders
Motor Disorders 		group Mental Disorders Disease or Syndrome 25 2 0.010 None 1.000 1 2010 2010
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
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 6 0.010 None 1.000 1 2008 2008
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		phenotype Finding 35 3 0.100 None 0 1
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 37 7 0.020 None 1.000 2 2017 2019
CUI: C0004158
Disease: Athetosis
Athetosis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 39 3 0.100 None 0
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
Generalized Thyroid Hormone Resistance 		disease Endocrine System Diseases Disease or Syndrome 45 34 0.060 None 1.000 6 2007 2018