Locus | Chromosome | Subfamily | Disease | Referencea |
---|---|---|---|---|
3 × HEMB (IX) | X | Ya5, Ya5, Yb8 | Hemophilia B | |
2 × HEMA (VIII) | X | Yb8, Yb9 | Hemophilia A | |
2 × CLCN5 | X | Ya6, Ya5 | Dent's disease | |
2 × BTK | X | Y, Y | X-linked agammaglobulinemia | |
IL2RG | X | Ya5 | X-linked severe combined immunodeficiency disease | |
GK | X | Yc1 | Glycerol kinase deficiency | |
CD40LG | X | Yb8 | Hyper IgM syndrome | |
ATP7A | X | Ya5a2 | Menkes disease | |
CRB1 | 1 | Y | Retinitis pigmentosa | |
ZFHX1B | 2 | Ya5 | Mowat-Wilson syndrome | |
BCHE | 3 | Yb8 | Cholinesterase deficiency | |
OPA1 | 3 | Yb8 | Autosomal dominant optic atrophy | [89] |
CASR | 3 | Ya4 | Hypocalciuric hypercalcemia and hyperparathyroidism | |
MLVI2 | 5 | Ya5 | Associated with leukemia | |
APC | 5 | Yb8 | Hereditary desmoid disease | |
P5N1 | 7 | Ya5 | Chronic hemolytic anemia | |
EYA1 | 8 | Y | Branchio-oto-renal syndrome | |
LPL | 8 | Yb9 | Lipoprotein lipase deficiency | |
POMT1 | 9 | Ya5 | Walker Warburg syndrome | |
3 × FGFR2 | 10 | Ya5, Yb8, Yc1 | Apert's syndrome | |
TNFRSF6 | 10 | Yb8 | Autoimmune lymphoproliferative syndrome | |
C1NH | 11 | Yc1 | Complement deficiency | |
AIP | 11 | Ya5 | Acute intermittent porphyria | |
GNPTAB | 12 | Y | Mucolipidosis | [90] |
3 × BRCA2 | 13 | Ya5, Yc1, Y | Breast cancer | [91] |
PMM2 | 16 | Yb8 | Congenital disorder of glycosylation type I | [92] |
BRCA1 | 17 | Ya5 | Breast cancer | |
15 × NF1 | 17 | Y subfamilies | Neurofibromatosis |