rs587784177, NSD1

N. diseases: 20
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.
SOTOS SYNDROME 1
CUI: C4551477
Disease: SOTOS SYNDROME 1
201 0.790 0.280 5 177283827 missense variant G/A snv 0.800 1.000 4 2002 2004
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
High anterior hairline
CUI: C3276036
Disease: High anterior hairline
3 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Pre-Eclampsia
CUI: C0032914
Disease: Pre-Eclampsia
14 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Recurrent otitis media
CUI: C0747085
Disease: Recurrent otitis media
11 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Sparse anterior scalp hair
CUI: C1866246
Disease: Sparse anterior scalp hair
1 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
Weight Gain
CUI: C0043094
Disease: Weight Gain
12 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0