NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 169; N. variants: 268
Source: INFERRED ×
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: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.900 definitive 0.988 0 1 1999 2019
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 4 0.700 strong 1.000 16 261 1993 2019
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.400 strong 0
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 1259 0.130 None 1.000 0 1 2015 2017
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 622 0.110 None 1.000 0 2014 2014
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558 0.110 None 1.000 0 2006 2006
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 81 0.110 None 1.000 0 1 2010 2010
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 252 0.110 None 1.000 0 1999 1999
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 574 0.110 None 1.000 0 2014 2014
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 574 0.110 None 1.000 0 2006 2006
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1458 0.110 None 1.000 0 1 2013 2013
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 67 0.110 None 1.000 0 2017 2017
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 336 0.110 None 1.000 0 2009 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 1.000 5 1 2004 2015
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 0.100 None 1.000 2 2 2014 2017
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 0.100 None 1.000 1 2 2016 2016
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 579 0.100 None 1.000 1 1 2018 2018
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 0.100 None 1.000 1 1 2016 2016
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 0.100 None 1.000 1 1 2018 2018
CUI: C0019572
Disease: Hirsutism
Hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 87 0.100 None 1.000 1 1 2016 2016
CUI: C0005910
Disease: Body Weight
Body Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 45 0.100 None 1.000 1 1 2017 2017
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1122 0.100 None 1.000 1 1 2016 2016
CUI: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum 		phenotype Finding 1 0.100 None 0 1
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 0.100 None 0