rs1557036768, HUWE1

N. diseases: 44
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Abnormality of the mandible
CUI: C4025870
Disease: Abnormality of the mandible
1 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
9 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Acquired cubitus valgus
CUI: C0158465
Disease: Acquired cubitus valgus
1 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Coarse hair
CUI: C0277959
Disease: Coarse hair
4 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Dimple chin
CUI: C4317152
Disease: Dimple chin
2 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Exophthalmos
CUI: C0015300
Disease: Exophthalmos
12 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Freckles in sun-exposed areas
CUI: C1859923
Disease: Freckles in sun-exposed areas
1 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Hypoplastic fingernail
CUI: C1856786
Disease: Hypoplastic fingernail
2 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Learning difficulties
CUI: C0424939
Disease: Learning difficulties
6 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Mental Retardation, X-Linked, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
25 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Metopic synostosis
CUI: C1860819
Disease: Metopic synostosis
5 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0