• ID
• SYMBOL
• DESCRIPTION
• MOL_EVENT
• REFERENCE

• 1
• G6PD
• glucose-6-phosphate dehydrogenase
• mutation
• 43

• 2
• UGT1A1
• UDP glucuronosyltransferase 1 family, polypeptide A1
• mutation
• 25

• 3
• ADAMTS13
• ADAM metallopeptidase with thrombospondin type 1 motif, 13
• mutation
• 3

• 4
• NPC1
• Niemann-Pick disease, type C1
• mutation
• 3

• 5
• UGT1A
• UDP glucuronosyltransferase 1 family, polypeptide A complex locus
• mutation
• 3

• 6
• UBL4A
• ubiquitin-like 4A
• mutation
• 3

• 7
• SLC25A13
• solute carrier family 25, member 13 (citrin)
• mutation
• 2

• 8
• SUPT7L
• suppressor of Ty 7 (S. cerevisiae)-like
• mutation
• 1

• 9
• PKLR
• pyruvate kinase, liver and RBC
• mutation
• 1

• 10
• GPI
• glucose-6-phosphate isomerase
• mutation
• 1

• 11
• HESX1
• HESX homeobox 1
• mutation
• 1

• 12
• JAG1
• jagged 1
• mutation
• 1

• 13
• NSD1
• nuclear receptor binding SET domain protein 1
• mutation
• 1

• 14
• GCLC
• glutamate-cysteine ligase, catalytic subunit
• mutation
• 1