rs61750428, GATAD1;PEX1

N. diseases: 4
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.
HEIMLER SYNDROME 1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
12 0.882 0.360 7 92494331 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 3 2002 2015
Infantile Refsum Disease (disorder)
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
59 0.882 0.360 7 92494331 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 3 2002 2015
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
99 0.882 0.360 7 92494331 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 3 2002 2015
Peroxisome biogenesis disorders
CUI: C1832200
Disease: Peroxisome biogenesis disorders
38 0.882 0.360 7 92494331 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 2 2009 2015