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: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.030 None 1.000 3 1 2009 2014
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2015 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 3 2018 2018
CUI: C0455806
Disease: Infant length
Infant length 		phenotype Finding 10 14 0.100 None 1.000 1 1 2015 2015
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: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		disease Finding 149 527 0.100 None 1.000 1 2 2010 2010
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		phenotype Finding 147 526 0.100 None 1.000 1 2 2010 2010
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 2 2010 2010
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 2 2010 2010
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: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		phenotype Finding 19 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		phenotype Finding 10 2 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1860607
Disease: Uncombable hair
Uncombable hair 		phenotype Finding 5 0.100 None 0
CUI: C1860608
Disease: Pili canaliculi
Pili canaliculi 		phenotype Finding 6 0.100 None 0