RBM8A, RNA binding motif protein 8A, 9939

N. diseases: 99; N. variants: 5
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: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.100 None 1.000 10 1990 2016
CUI: C0578575
Disease: Dissection of proximal aorta
Dissection of proximal aorta 		disease Disease or Syndrome 26 0.020 None 1.000 2 2017 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2016 2017
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.020 None 1.000 2 1994 2012
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C0375021
Disease: Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 38 0.010 None 1.000 1 2001 2001
CUI: C1864153
Disease: SCHIZOPHRENIA 5
SCHIZOPHRENIA 5 		disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2013 2013
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		disease Disease or Syndrome 3 40 0.300 limited 1.000 1 2007 2007
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		disease Disease or Syndrome 3 15 0.300 limited 1.000 1 2007 2007
CUI: C0158779
Disease: Cervical rib
Cervical rib 		disease Congenital Abnormality 11 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding) 		phenotype Finding 10 1 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 0
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		phenotype Finding 12 1 0.100 None 0
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis 		disease Congenital Abnormality 15 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius 		disease Congenital Abnormality 24 1 0.100 None 0 1
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia 		phenotype Finding 9 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 15 0.100 None 0
CUI: C1848840
Disease: Bilateral radial aplasia
Bilateral radial aplasia 		phenotype Finding 1 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0
CUI: C1865571
Disease: Aplasia/Hypoplasia of the ulna
Aplasia/Hypoplasia of the ulna 		phenotype Congenital Abnormality 6 0.100 None 0
CUI: C1969001
Disease: Shoulder muscle hypoplasia
Shoulder muscle hypoplasia 		phenotype Finding 1 0.100 None 0