rs1064795760, BICD2

N. diseases: 14
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
13 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Open mouth (finding)
CUI: C0240379
Disease: Open mouth (finding)
11 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Skeletal muscle atrophy
CUI: C0541794
Disease: Skeletal muscle atrophy
12 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
3 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0