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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 9 1 1996 2016
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1992 1997
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2014 2015
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		phenotype Finding 6 2 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: C0302845
Disease: MCV - raised
MCV - raised 		phenotype Finding 12 1 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: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 1.000 1 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: C0580316
Disease: Neutrophil count abnormal
Neutrophil count abnormal 		phenotype Finding 2 1 0.100 None 1.000 1 1 2019 2019
CUI: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte count abnormal 		phenotype Finding 1 1 0.100 None 1.000 1 1 2019 2019
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 32 6 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: C0860609
Disease: Inappropriate crying
Inappropriate crying 		phenotype Finding 8 2 0.100 None 1.000 1 1 2019 2019
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2017 2017
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype Finding 28 13 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: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 1.000 1 1 2019 2019
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		phenotype Finding 16 2 0.100 None 1.000 1 1 2019 2019
CUI: C1860130
Disease: Low alkaline phosphatase
Low alkaline phosphatase 		phenotype Finding 4 7 0.100 None 1.000 1 1 2019 2019
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization 		disease Disease or Syndrome 85 26 0.010 None 1.000 1 2019 2019