RARA, retinoic acid receptor alpha, 5914

N. diseases: 274; N. variants: 3
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: C0242621
Disease: Isochromosomes
Isochromosomes 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.010 None 1.000 1 2010 2010
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.020 None 0.500 2 2015 2019
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 1995 1995
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.070 None 1.000 7 1993 2015
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.010 None 1.000 1 1995 1995
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.310 None 1.000 1 1 2019 2019
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.010 None 1.000 1 2011 2011
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.010 None 1.000 1 2015 2015
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.010 None 1.000 1 1996 1996
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 57 2 0.010 None 1.000 1 2019 2019
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.010 None 1.000 1 2017 2017
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2002 2002
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 29 6 0.010 None 1.000 1 2017 2017
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.010 None < 0.001 1 2003 2003
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		disease Infections; Nervous System Diseases Disease or Syndrome 240 4 0.100 None 0.962 53 2 1993 2020
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 70 3 0.100 None 1.000 22 1994 2019
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.100 None 1.000 10 1994 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 1.000 10 1994 2019
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 8 0.030 None 1.000 3 2006 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.020 None 1.000 2 2018 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.020 None 1.000 2 2018 2019
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.020 None 0.500 2 1992 2010
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.020 None 1.000 2 1995 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.020 None 1.000 2 2008 2013