rs758946412, PCDH19

N. diseases: 12
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.
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
44 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 1.000 6 2008 2017
Absence Seizures
CUI: C4316903
Disease: Absence Seizures
8 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Frontal cortical atrophy
CUI: C4024965
Disease: Frontal cortical atrophy
1 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
13 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
10 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Prominent fingertip pads
CUI: C1835807
Disease: Prominent fingertip pads
8 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Temporal cortical atrophy
CUI: C4024936
Disease: Temporal cortical atrophy
2 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
Tremor of hands
CUI: C0239842
Disease: Tremor of hands
7 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0