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: 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: 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: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558 0.110 None 1.000 0 2006 2006
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 252 0.110 None 1.000 0 1999 1999
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 336 0.110 None 1.000 0 2009 2009
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: 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: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 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
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 0.100 None 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype Finding 9 0.100 None 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 17 0.100 None 0 1
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 53 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 0.100 None 0 1
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 0.100 None 0 1
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 0.100 None 0
CUI: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum 		phenotype Finding 1 0.100 None 0 1
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 113 0.100 None 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 0.100 None 0