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.
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
4 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
EEG with focal spike waves
CUI: C4023477
Disease: EEG with focal spike waves
1 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
EEG with multifocal slow activity
CUI: C4023687
Disease: EEG with multifocal slow activity
2 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Hypoplasia of the brainstem
CUI: C1842688
Disease: Hypoplasia of the brainstem
3 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Hypoplasia of the pons
CUI: C1848529
Disease: Hypoplasia of the pons
3 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Long fingers
CUI: C1858091
Disease: Long fingers
6 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Long toe
CUI: C3150613
Disease: Long toe
8 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Nodding spasm
CUI: C0546878
Disease: Nodding spasm
1 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Overriding toe
CUI: C0920299
Disease: Overriding toe
13 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Pachygyria
CUI: C0266483
Disease: Pachygyria
8 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Tapered toe
CUI: C4021167
Disease: Tapered toe
1 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0