Bernard soulier syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Bernard-Soulier Syndrome | C0005129, 274 | CHRNE | |
| GP1BA | 9639514, 7873390, 7819107, 7690774, 2308962, 22886561, 1730088, 10089893, 21357716 | ||
| GP1BB | 10887115, 16978236, 9116284, 28064200, 12945881, 21357716, 16409472, 15213102, 12447957, 3258770, 12693941, 8089142, 27148783, 12958615, 22886561 | ||
| GP9 | 25370924, 8481514, 11758225, 22886561, 11167791, 10583255, 9886312, 14510954, 16916536, 15609295, 12100158, 21113250, 21173099, 9163595, 8049428, 8089142, 23143686, 21357716, 28650483, 31064749, 23402648, 9432024, 23995613, 21699652 | ||
| SEPTIN5 | |||
| BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT | C3277076 | CHRNE | |
| GP1BA | 11222377 | ||
| Bernard-Soulier Syndrome, Type C | C1856448 | GP9 | |
| BERNARD-SOULIER SYNDROME, TYPE A1 | C3278148 | CHRNE | |
| GP1BA | |||
| Bernard-Soulier Syndrome, Type B | C1856447 | GP1BB | |
| SEPTIN5 |