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: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum 		phenotype Finding 1 0.100 None 0 1
CUI: C1855286
Disease: Long curly eyelashes
Long curly eyelashes 		phenotype Finding 1 0.100 None 0 1
CUI: C4015466
Disease: Bilateral clinodactyly
Bilateral clinodactyly 		phenotype Finding 1 0.100 None 0 1
CUI: C4531263
Disease: Abnormal incisura morphology
Abnormal incisura morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C3807131
Disease: Reduced renal corticomedullary differentiation
Reduced renal corticomedullary differentiation 		phenotype Finding 2 0.100 None 0
CUI: C4021695
Disease: Hypoplastic radial head
Hypoplastic radial head 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025234
Disease: Duplication of internal organs
Duplication of internal organs 		disease Anatomical Abnormality 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 4 0.700 strong 1.000 16 261 1993 2019
CUI: C0266196
Disease: Malrotation of colon
Malrotation of colon 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.100 None 0
CUI: C0031575
Disease: Phocomelia
Phocomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 0.100 None 0
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 0.100 None 0 1
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion 		phenotype Finding 6 0.100 None 0 1
CUI: C0575497
Disease: Short sternum
Short sternum 		phenotype Finding 9 0.100 None 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype Finding 9 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: C0345397
Disease: Accessory rib
Accessory rib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 15 0.100 None 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		phenotype Finding 15 0.100 None 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 16 0.100 None 0 1
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 17 0.100 None 0 1
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: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 0.100 None 0