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: C4023424
Disease: Prominent digit pad
Prominent digit pad
phenotype Anatomical Abnormality 4 3 0.100 None 1.000 1 1 2019 2019
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype Finding 160 246 0.100 None 1.000 1 1 2019 2019
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 1.000 1 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 1 1 2019 2019
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 1.000 1 1 2019 2019
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.100 None 1.000 1 1 2019 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 1.000 1 1 2019 2019
Schizoaffective disorder, bipolar type
disease Mental Disorders Mental or Behavioral Dysfunction 17 10 0.100 None 1.000 1 1 2019 2019
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C1301937
Disease: Talipes
Talipes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 2 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 99 8 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1442903
Disease: Exostoses
Exostoses
phenotype Musculoskeletal Diseases Disease or Syndrome 37 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 0.100 None 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 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: C0566899
Disease: Small labia majora
Small labia majora
phenotype Finding 35 3 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0