Disease Term Disease ID Gene Symbol References
Omenn Syndrome C2700553, 39041 ADA
AK2 19043417, 19043416
CD3D 15546002
CD3E 15546002
IL2RA 24116927
IL2RG
IL7R
JAK3 15220007, 15661026
LIG4
PTPRC 22689986
RAG1 16960852, 21131235, 21771083, 9630231, 19470080, 11133745, 11908269, 21664875, 19912631, 10891502, 26457731, 12200379, 22841008, 20956421, 17075247, 11971977, 10606976, 17176792, 21624848
RAG2 15025726, 11133745, 11313270, 23243423, 12200379, 9630231, 25707801, 19470080, 26457731, 22841008, 21131235, 16960852, 26186701, 10891502, 21624848
RMRP 2328993
TFRC 26642240
ZAP70 8202713
CORO1A 19097825
IL21R 12700598
CHD7
DCLRE1C 15731174, 15071507, 19953608, 25917813