rs756421370, MECR

N. diseases: 8
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 Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
Childhood Onset Dystonias
CUI: C0752202
Disease: Childhood Onset Dystonias
8 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
CUI: C4310634
Disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
6 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
Focal T2 hyperintense basal ganglia lesion
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
3 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0