ARID1A, AT-rich interaction domain 1A, 8289

N. diseases: 341; N. variants: 22
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: C3553247
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		disease Disease or Syndrome 1 12 0.400 strong 0 12
CUI: C1302454
Disease: Complex atypical endometrial hyperplasia
Complex atypical endometrial hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 2 0.010 None 1.000 1 2011 2011
CUI: C0265837
Disease: Congenital hypoplasia of tricuspid valve
Congenital hypoplasia of tricuspid valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 1 0.100 None 0 1
CUI: C4020917
Disease: Absent fifth fingernail
Absent fifth fingernail 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4289955
Disease: Atypical Endometriosis
Atypical Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 3 0.020 None 1.000 2 2011 2012
CUI: C0474809
Disease: Endometrioid tumor
Endometrioid tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 3 0.010 None 1.000 1 2012 2012
CUI: C4021892
Disease: Absent fifth toenail
Absent fifth toenail 		phenotype Anatomical Abnormality 3 2 0.100 None 0
CUI: C0265881
Disease: Congenital hypoplasia of aortic arch
Congenital hypoplasia of aortic arch 		disease Cardiovascular Diseases Congenital Abnormality 4 1 0.100 None 0 1
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		phenotype Finding 6 0.100 None 0
CUI: C3277940
Disease: Generalized hypertrichosis
Generalized hypertrichosis 		phenotype Skin and Connective Tissue Diseases Finding 6 4 0.100 None 0 1
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 6 61 0.400 strong 0 1
CUI: C0007118
Disease: Carcinoma, Basosquamous
Carcinoma, Basosquamous 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 13 0.010 None 1.000 1 1998 1998
CUI: C0334317
Disease: Cystadenofibroma
Cystadenofibroma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2012 2012
CUI: C0344760
Disease: Congenital atresia of mitral valve
Congenital atresia of mitral valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 2 0.100 None 0 1
CUI: C0279765
Disease: Endometrial Clear Cell Adenocarcinoma
Endometrial Clear Cell Adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 10 0.010 None 1.000 1 2013 2013
CUI: C4022120
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th toe 		phenotype Finding 10 0.100 None 0
CUI: C4024507
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0221287
Disease: Combined Hepatocellular Carcinoma and Cholangiocarcinoma
Combined Hepatocellular Carcinoma and Cholangiocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2017 2017
CUI: C0272173
Disease: Myelokathexis
Myelokathexis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2014 2014
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		disease Anatomical Abnormality 11 3 0.100 None 0 1
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Finding 12 6 0.100 None 0 1
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		disease Anatomical Abnormality 12 4 0.100 None 0 1
CUI: C0920269
Disease: Microsatellite Instability
Microsatellite Instability 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 None 1.000 1 2015 2015
CUI: C1721098
Disease: Replication Error Phenotype
Replication Error Phenotype 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 None 1.000 1 2015 2015