RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
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: C0266177
Disease: Megaduodenum
Megaduodenum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 1 0.100 None 0
CUI: C4025714
Disease: Abnormality of the autonomic nervous system
Abnormality of the autonomic nervous system 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		phenotype Anatomical Abnormality 4 3 0.100 None 1.000 1 1 2019 2019
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 50 0.300 None 0
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 20 0.300 None 0
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		disease Disease or Syndrome 6 11 0.610 None 1.000 6 11 2012 2019
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		phenotype Finding 6 2 0.100 None 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 266 0.300 None 0
CUI: C1860789
Disease: Leukemia, Megakaryoblastic, of Down Syndrome
Leukemia, Megakaryoblastic, of Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 9 1 0.300 None 1.000 1 2013 2013
CUI: C0344925
Disease: Perimembranous ventricular septal defect
Perimembranous ventricular septal defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 9 3 0.100 None 0
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 11 0.100 None 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		phenotype Finding 11 0.100 None 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 15 6 0.600 None 1.000 1 1 2015 2015
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		phenotype Finding 15 0.100 None 0
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		disease Digestive System Diseases Disease or Syndrome 17 10 0.020 None 1.000 2 2015 2018
CUI: C0270496
Disease: Schizoaffective disorder, bipolar type
Schizoaffective disorder, bipolar type 		disease Mental Disorders Mental or Behavioral Dysfunction 17 10 0.100 None 1.000 1 1 2019 2019
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		disease Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2013 2013
CUI: C0346191
Disease: Carcinoma in situ of endometrium
Carcinoma in situ of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 18 0.300 None 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 1 0.100 None 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 0.100 None 0
CUI: C0728895
Disease: Absent finger
Absent finger 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype Finding 30 5 0.100 None 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		phenotype Pathological Conditions, Signs and Symptoms Finding 30 2 0.100 None 0
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		disease Digestive System Diseases Disease or Syndrome 32 5 0.100 None 0