Source: HPO

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: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		disease 0.400 strong 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.130 None 1.000 0 0 2015 2017
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0003467
Disease: Anxiety
Anxiety 		disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.110 None 1.000 0 0 2006 2006
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: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype 0.110 None 1.000 0 0 1999 1999
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0