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: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum
phenotype 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype 0.100 None 0 1
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: 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: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2013 2013
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0566899
Disease: Small labia majora
Small labia majora
phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0575497
Disease: Short sternum
Short sternum
phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0575802
Disease: Small hand
Small hand
phenotype 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0576226
Disease: Short foot
Short foot
phenotype 0.100 None 0 0
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: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior
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: C0728895
Disease: Absent finger
Absent 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: C0848558
Disease: Hypospadias
Hypospadias
disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
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: C1301937
Disease: Talipes
Talipes
disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C3887496
Disease: Oligodactyly
Oligodactyly
disease 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
Reduced renal corticomedullary differentiation
phenotype 0.100 None 0 0