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: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2014 2017
CUI: C0740404
Disease: Limb defects
Limb defects
group Congenital Abnormality 67 2 0.020 None 1.000 2 2014 2016
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2016 2016
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.010 None 1.000 1 2016 2016
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 1.000 1 1 2016 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2013 2013
CUI: C0741918
Disease: Structural cardiac defects
Structural cardiac defects
disease Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2007 2007
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C4521563
Disease: SPINOCEREBELLAR ATAXIA 44
SPINOCEREBELLAR ATAXIA 44
disease Disease or Syndrome 2 3 0.010 None 1.000 1 2019 2019
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype Finding 160 246 0.100 None 1.000 1 2 2016 2016
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0234860
Disease: Weak cry
Weak cry
phenotype Finding 42 4 0.100 None 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239594
Disease: Short finger
Short finger
phenotype Finding 37 1 0.100 None 0 1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0 2
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple
disease Congenital Abnormality 33 1 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0566899
Disease: Small labia majora
Small labia majora
phenotype Finding 35 3 0.100 None 0
CUI: C0575497
Disease: Short sternum
Short sternum
phenotype Finding 9 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0