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.
Intellectual disability, progressive
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 1 0.100 None 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance
phenotype Finding 65 0.100 None 0
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.100 None 0
CUI: C0009024
Disease: Clonus
Clonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 60 4 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion
phenotype Behavior and Behavior Mechanisms Mental Process 147 14 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: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination
disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C4024655
Disease: Underfolded superior helices
Underfolded superior helices
disease Anatomical Abnormality 2 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0004158
Disease: Athetosis
Athetosis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 39 3 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0003537
Disease: Aphasia
Aphasia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 86 3 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
phenotype Finding 140 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C0013132
Disease: Drooling
Drooling
phenotype Stomatognathic Diseases Finding 95 14 0.100 None 0
Bilateral single transverse palmar creases
phenotype Finding 65 1 0.100 None 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
phenotype Finding 60 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood
phenotype Behavior and Behavior Mechanisms Finding 142 1 0.100 None 0
CUI: C1855285
Disease: Protruding ear
Protruding ear
phenotype Finding 152 6 0.100 None 0
CUI: C1862689
Disease: Stahl ear
Stahl ear
disease Congenital Abnormality 2 0.100 None 0
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus
disease Musculoskeletal Diseases Anatomical Abnormality 61 6 0.100 None 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0