SKIV2L, Ski2 like RNA helicase, 6499

N. diseases: 96; N. variants: 24
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: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		disease Disease or Syndrome 2 5 0.600 None 1.000 3 5 2012 2017
CUI: C3810089
Disease: MEMORY QUANTITATIVE TRAIT LOCUS
MEMORY QUANTITATIVE TRAIT LOCUS 		phenotype Finding 2 1 0.300 strong 0
CUI: C0587178
Disease: Anti-nuclear antibody measurement
Anti-nuclear antibody measurement 		phenotype Laboratory Procedure 3 3 0.100 None 1.000 1 1 2019 2019
CUI: C4476622
Disease: Dependency on intravenous nutrition
Dependency on intravenous nutrition 		phenotype Finding 3 0.100 None 0
CUI: C1860607
Disease: Uncombable hair
Uncombable hair 		phenotype Finding 5 0.100 None 0
CUI: C4023583
Disease: Abnormality of iron homeostasis
Abnormality of iron homeostasis 		phenotype Finding 5 1 0.100 None 0
CUI: C1860608
Disease: Pili canaliculi
Pili canaliculi 		phenotype Finding 6 0.100 None 0
CUI: C0263485
Disease: Clastothrix
Clastothrix 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.100 None 0
CUI: C0455806
Disease: Infant length
Infant length 		phenotype Finding 10 14 0.100 None 1.000 1 1 2015 2015
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		phenotype Finding 10 2 0.100 None 0
CUI: C2609315
Disease: Retinal angiomatous proliferation
Retinal angiomatous proliferation 		disease Disease or Syndrome 12 4 0.010 None 1.000 1 1 2014 2014
CUI: C0743178
Disease: Intractable diarrhea
Intractable diarrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 3 0.100 None 0
CUI: C0151594
Disease: Hemorrhagic diarrhea
Hemorrhagic diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 16 0.100 None 0
CUI: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0343073
Disease: Wooly hair
Wooly hair 		phenotype Skin and Connective Tissue Diseases Finding 19 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		phenotype Finding 19 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 0.100 None 0
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 3 0.100 None 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		phenotype Skin and Connective Tissue Diseases Finding 23 1 0.100 None 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		phenotype Finding 23 1 0.100 None 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 34 0.100 None 0
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		disease Eye Diseases Disease or Syndrome 49 69 0.100 None 1.000 1 1 2016 2016
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.030 None 1.000 3 1 2009 2014
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.100 None 0