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.
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.658 0.520 12 112453279 missense variant G/C;T snv 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.658 0.520 12 112453279 missense variant G/C;T snv 0.710 1.000 17 2002 2013
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.658 0.520 12 112453279 missense variant G/C;T snv 0.710 1.000 15 2002 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 1.000 20 1968 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 1.000 20 1968 2016
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 1.000 3 2002 2008
Refractive amblyopia
CUI: C0152190
Disease: Refractive amblyopia
1 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 1.000 3 2002 2008
Short stature
CUI: C0349588
Disease: Short stature
292 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 1.000 3 2002 2008
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