Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Chondrodysplasia punctata |
Chondrodysplasia Punctata, Rhizomelic |
rs80338714, rs398122843, rs121434599, rs121434604, rs2107055197, rs2089231699 |
21990100, 8685243, 9090381, 7096336, 10215861, 24849933, 25197626, 11152660, 9553082, 21353609, 9114014 |
Congenital lipodystrophy |
Congenital Generalized Lipodystrophy Type 1 |
rs786205069, rs587777608, rs786205071, rs137852970, rs137852971, rs758843908, rs137852973, rs137852974, rs137852975, rs1427062799, rs1567776490, rs1567782465, rs1489315815, rs104894093, rs116807569, rs387906355, rs104894100, rs121908925, rs606231168, rs121908926, rs121434501, rs1567782493, rs1567776514, rs1207466199, rs866504928, rs587777606, rs797045176, rs797045222, rs879254029, rs886063722, rs748157664, rs933422777, rs764260414, rs749890533, rs766061024, rs1013079991, rs1057518714, rs1057518715, rs1064797076, rs1131691791, rs1554983076, rs1564290079, rs1564290914, rs1565144681, rs747297291, rs1565152616, rs557044760, rs1565142553, rs1588263957 View all (34 more) |
|
Rhizomelic chondrodysplasia punctata |
Rhizomelic chondrodysplasia punctata, type 3, Rhizomelic chondrodysplasia punctata type 3 |
rs121434411, rs121434412, rs121434413, rs121434439, rs121434440, rs1558334625, rs1571950208, rs1571957148, rs1805137, rs121909151, rs121909152, rs121909153, rs63535662, rs148591292, rs121909154, rs61753238, rs61753233, rs1571955307, rs1571955597, rs1571960363, rs387907214, rs62653611, rs267608254, rs764346452, rs61753245, rs796051881, rs774131564, rs62636519, rs1057516961, rs1057516882, rs1057516737, rs267608253, rs763514968, rs62653604, rs1057517059, rs1057516827, rs1057517339, rs1057516574, rs1057516989, rs1057517257, rs778862698, rs1057516824, rs1554331461, rs1554333636, rs1554335926, rs1554328952, rs61753248, rs1554328790, rs1464766327, rs769137963, rs1554335937, rs1571946866, rs1582732852, rs1582757650, rs764924345, rs1582760004 View all (41 more) |
24849933, 11152660, 27604308, 21990100, 9553082 |
|