NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 169; N. variants: 268
Source: INFERRED ×
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 0.100 None 1.000 2 2 2014 2017
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1122 0.100 None 1.000 1 1 2016 2016
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 0.100 None 1.000 1 1 2018 2018
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 0.100 None 1.000 1 2 2016 2016
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 0.100 None 0
CUI: C0234860
Disease: Weak cry
Weak cry 		phenotype Finding 42 0.100 None 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 139 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 0.100 None 0
CUI: C0239594
Disease: Short finger
Short finger 		phenotype Finding 37 0.100 None 0 1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 71 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 269 0.100 None 0 2
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		disease Congenital Abnormality 32 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 241 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1458 0.110 None 1.000 0 1 2013 2013
CUI: C0566899
Disease: Small labia majora
Small labia majora 		phenotype Finding 35 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 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 0.100 None 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 0.100 None 0 1