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: C1864153
Disease: SCHIZOPHRENIA 5
SCHIZOPHRENIA 5 		disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2013 2013
CUI: C1848840
Disease: Bilateral radial aplasia
Bilateral radial aplasia 		phenotype Finding 1 0.100 None 0
CUI: C1969001
Disease: Shoulder muscle hypoplasia
Shoulder muscle hypoplasia 		phenotype Finding 1 0.100 None 0
CUI: C4025300
Disease: Axial malrotation of the kidney
Axial malrotation of the kidney 		disease Congenital Abnormality 1 0.100 None 0
CUI: C4025031
Disease: Aplasia/hypoplasia of the humerus
Aplasia/hypoplasia of the humerus 		phenotype Finding 2 0.100 None 0
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: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 4 2 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: C0031575
Disease: Phocomelia
Phocomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 9 1 0.100 None 0
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia 		phenotype Finding 9 0.100 None 0
CUI: C0206617
Disease: Cardiovirus Infections
Cardiovirus Infections 		group Infections Disease or Syndrome 10 0.010 None 1.000 1 2016 2016
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding) 		phenotype Finding 10 1 0.100 None 0
CUI: C1279386
Disease: Postoperative pneumonia
Postoperative pneumonia 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C0158779
Disease: Cervical rib
Cervical rib 		disease Congenital Abnormality 11 0.100 None 0
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 12 5 0.770 None 1.000 9 5 2007 2019
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: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae 		disease Congenital Abnormality 15 2 0.100 None 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 3 0.100 None 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 20 1 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius 		disease Congenital Abnormality 24 1 0.100 None 0 1
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: 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: C0266815
Disease: Cow milk allergy
Cow milk allergy 		phenotype Digestive System Diseases; Immune System Diseases Disease or Syndrome 38 0.100 None 0