SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 2 1 2019 2019
CUI: C0428282
Disease: Serum creatinine low
Serum creatinine low 		phenotype Finding 4 2 0.100 None 1.000 1 1 2019 2019
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		phenotype Finding 6 2 0.100 None 1.000 1 1 2019 2019
CUI: C0085702
Disease: Monocytosis
Monocytosis 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 61 3 0.100 None 1.000 1 1 2019 2019
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 1.000 1 1 2019 2019
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.100 None 1.000 1 1 2019 2019
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 75 9 0.100 None 1.000 1 1 2019 2019
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		phenotype Digestive System Diseases Pathologic Function 121 4 0.100 None 1.000 1 1 2019 2019
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype Finding 28 13 0.100 None 1.000 1 1 2019 2019
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.010 None 1.000 1 2019 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 1 1 2019 2019
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		phenotype Finding 34 5 0.100 None 1.000 1 1 2019 2019
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 1.000 1 1 2019 2019
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		phenotype Finding 2 2 0.100 None 1.000 1 1 2019 2019
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 1.000 1 1 2019 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.100 None 1.000 1 1 2019 2019
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		phenotype Finding 8 2 0.100 None 1.000 1 1 2019 2019
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		phenotype Finding 4 5 0.100 None 1.000 1 1 2019 2019
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		phenotype Finding 7 1 0.100 None 1.000 1 1 2019 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2019 2019
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.100 None 1.000 1 1 2019 2019
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 1.000 1 1 2019 2019
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 1.000 1 1 2019 2019
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		disease Disease or Syndrome 18 11 0.100 None 1.000 1 1 2019 2019
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype Finding 12 1 0.100 None 1.000 1 1 2019 2019