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.
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
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
disease Disease or Syndrome 3 15 0.300 limited 1.000 1 2007 2007
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
disease Disease or Syndrome 3 40 0.300 limited 1.000 1 2007 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.120 None 1.000 2 2013 2013
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.110 None 1.000 1 2019 2019
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.100 None 1.000 10 1990 2016
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: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis
disease Congenital Abnormality 15 0.100 None 0
CUI: C0426900
Disease: Tibial torsion
Tibial torsion
phenotype Finding 12 1 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
phenotype Finding 67 11 0.100 None 0
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding)
phenotype Finding 10 1 0.100 None 0
CUI: C0266815
Disease: Cow milk allergy
Cow milk allergy
phenotype Digestive System Diseases; Immune System Diseases Disease or Syndrome 38 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0239137
Disease: Coxa valga
Coxa valga
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 68 5 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 51 3 0.100 None 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 171 12 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 75 5 0.100 None 0
CUI: C0158779
Disease: Cervical rib
Cervical rib
disease Congenital Abnormality 11 0.100 None 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.100 None 0
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius
disease Congenital Abnormality 24 1 0.100 None 0 1
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae
disease Congenital Abnormality 15 2 0.100 None 0
CUI: C4025031
Disease: Aplasia/hypoplasia of the humerus
Aplasia/hypoplasia of the humerus
phenotype Finding 2 0.100 None 0