rs587776625, ADGRG1

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.
Cerebral dysmyelination
CUI: C1854885
Disease: Cerebral dysmyelination
6 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Cortical Dysplasia
CUI: C0431380
Disease: Cortical Dysplasia
6 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Delayed speech and language development
192 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Impaired toileting ability
CUI: C4476941
Disease: Impaired toileting ability
1 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
26 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0