NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
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: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 0
CUI: C1844573
Disease: Large earlobe
Large earlobe 		phenotype Finding 18 2 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		phenotype Finding 53 1 0.100 None 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype Finding 83 17 0.100 None 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		phenotype Finding 9 1 0.100 None 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		phenotype Finding 16 0.100 None 0
CUI: C1859366
Disease: Hypoplastic 5th lumbar vertebrae
Hypoplastic 5th lumbar vertebrae 		phenotype Finding 1 0.100 None 0
CUI: C1863311
Disease: Elongated sella turcica
Elongated sella turcica 		phenotype Finding 1 0.100 None 0
CUI: C1863313
Disease: Tall lumbar vertebral bodies
Tall lumbar vertebral bodies 		phenotype Finding 1 0.100 None 0
CUI: C1863314
Disease: Cervical instability
Cervical instability 		phenotype Finding 1 0.100 None 0
CUI: C1863317
Disease: Crowded carpal bones
Crowded carpal bones 		phenotype Finding 1 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype Anatomical Abnormality 122 14 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype Finding 67 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0