rs397507520, PTPN11

N. diseases: 39
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.
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
blue iris (physical finding)
CUI: C0578626
Disease: blue iris (physical finding)
2 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Down-sloping shoulders
CUI: C1856872
Disease: Down-sloping shoulders
4 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Fair hair
CUI: C1849221
Disease: Fair hair
5 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Recurrent otitis media
CUI: C0747085
Disease: Recurrent otitis media
11 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Smooth philtrum
CUI: C1142533
Disease: Smooth philtrum
10 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0