NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
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: C0741918
Disease: Structural cardiac defects
Structural cardiac defects 		disease Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C2750805
Disease: Chromosome 5p13 Duplication Syndrome
Chromosome 5p13 Duplication Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1855286
Disease: Long curly eyelashes
Long curly eyelashes 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4015466
Disease: Bilateral clinodactyly
Bilateral clinodactyly 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4531263
Disease: Abnormal incisura morphology
Abnormal incisura morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4521563
Disease: SPINOCEREBELLAR ATAXIA 44
SPINOCEREBELLAR ATAXIA 44 		disease Disease or Syndrome 2 3 0.010 None 1.000 1 2019 2019
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: C0155536
Disease: Paracousis
Paracousis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 3 0.300 None 1.000 1 2009 2009
CUI: C0260662
Disease: Hearing problem
Hearing problem 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 3 0.300 None 1.000 1 2009 2009
CUI: C0877848
Disease: Distorted hearing
Distorted hearing 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 3 0.300 None 1.000 1 2009 2009
CUI: C1510450
Disease: Dysacusis
Dysacusis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 3 0.300 None 1.000 1 2009 2009
CUI: C4040907
Disease: Mosaic Turner syndrome
Mosaic Turner syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2012 2012
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: 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 1.000 3 2008 2018
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 1.000 3 2008 2018
CUI: C0795809
Disease: Chromosome 3, trisomy 3q
Chromosome 3, trisomy 3q 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2001 2001
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion 		phenotype Finding 6 2 0.100 None 0 1
CUI: C0015411
Disease: Eye Manifestations
Eye Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 7 2 0.010 None 1.000 1 2006 2006
CUI: C0559459
Disease: Sacrococcygeal teratoma
Sacrococcygeal teratoma 		disease Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Neoplastic Process 7 0.010 None 1.000 1 2015 2015
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 0.700 strong 1.000 30 263 1993 2019
CUI: C0031575
Disease: Phocomelia
Phocomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 9 1 0.100 None 0
CUI: C0575497
Disease: Short sternum
Short sternum 		phenotype Finding 9 0.100 None 0