rs72554640, PGK1;ATP7A

N. diseases: 9
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.
Abnormality of hair texture
CUI: C4023722
Disease: Abnormality of hair texture
1 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
Decreased serum ceruloplasmin
CUI: C0240997
Disease: Decreased serum ceruloplasmin
5 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
Fever
CUI: C0015967
Disease: Fever
66 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
99 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
Pallor
CUI: C0030232
Disease: Pallor
4 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
Severe failure to thrive
CUI: C1855514
Disease: Severe failure to thrive
4 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0