Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		disease 0.700 strong 1.000 16 261 1993 2019
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0431447
Disease: Synophrys
Synophrys 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		disease 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0031575
Disease: Phocomelia
Phocomelia 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease 0.110 None 1.000 0 1 2010 2010
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0345397
Disease: Accessory rib
Accessory rib 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0025995
Disease: Micromelia
Micromelia 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0