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Severe combined immunodeficiency disease

Disease Term Disease ID Gene Symbol References

Combined immunodeficiency C0494261
ACP5
AK2
RHOH 24189071
BUB1B
CD3G 17277165
CD27 25843314
CD70 29434583
CTLA4 25329329
IKBKB 25216719
IL2RA 24116927
IL2RG
ITK 21109689
LCK 11351273
LIG4
MSN 29556235
MYH7
MYOC
PNP
PGM3 24931394
PIK3CD 24136356
PIK3R1 25488983
PRKDC 25842288
RAC2
RAG1
RAG2
RFX5 9401005
STAT1 29702748
STAT5A 16418296
STAT5B 26703237
STIM1 26560041
STK4 24453252
TFRC 26642240
TNFRSF4
ZAP70
UNC119 22184408
PLAA
RECQL4 16630167
MALT1 25627829
CORO1A 19097825
TRAC 3464003
ICOS 29226301
IL21R 12700598
ADA2 29564582
TTC7A 24417819
DCLRE1C
BCL11B 27959755
NHEJ1
DOCK8 25724123
MAGT1 21983175
CARD11 25352053
ORAI1 20004786
CARMIL2 28112205
MYOCOS
Severe Combined Immunodeficiency C0085110
ADA 26255240, 27604308, 19179314, 21664875, 22447032, 9758612
AK2 19043416, 19043417
CD3D 15546002
CD3E 7937778, 15546002, 1828760, 1370449, 24515816, 8490660
CD247 25688246
IL2RG
IL7R
JAK3 15220007, 15661026, 18559588
LIG4 27537055
MTHFD1
MYH7
MYOC
PGM3
PRKDC 25842288
PTPRC 22689986
RAC2
RAG1 18768869, 11213808, 20956421, 18463379, 11971977, 27484032, 17572155, 25869295
RAG2 18463379, 17572155, 20956421, 11213808, 27484032, 18768869, 25869295, 11971977
RMRP
TBX1 11242110
TCN2 19373259
TFRC 26642240
XRCC4
ZAP70 27288531, 8202713
PKIG 19179314
CORO1A 19097825
IL21R 12700598
CHD7
TTC7A
DCLRE1C
BCL11B
MYOCOS
Severe combined immunodeficiency due to adenosine deaminase deficiency C0392607 , 277
ADA
PKIG
Severe combined immunodeficiency due to CTPS1 deficiency C4706524 , 420573
CTPS1 9536098
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive C1832322
JAK3
RAG1 10701853, 8810255, 9630231, 11133745, 18822103, 19458910, 25516070, 18056378, 19064334, 11313270, 18701881, 18442948, 20489056, 21131235, 24290284, 19830075, 19912631, 17572155, 17075247
RAG2 11313270, 21624848, 8810255, 11133745, 18442948, 25707801, 23243423, 19458910, 15025726, 16960852, 18033247, 16111638, 24290284, 26692406, 17572155, 26186701, 18701881, 10891502
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative C1833275
JAK3 10982185, 7481768, 14615376, 7659163, 9354668, 9753072
Severe combined immunodeficiency, atypical C1849236
ZAP70
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE C1865371
DCLRE1C
Athabaskan severe combined immunodeficiency C1865372
DCLRE1C 12055248
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL C1865373
DCLRE1C
T-B+ severe combined immunodeficiency due to gamma chain deficiency 276
IL2RG
Severe combined immunodeficiency due to FOXN1 deficiency 169095
FOXN1
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 169160
CD3D
CD3E
CD247
Severe combined immunodeficiency due to DCLRE1C deficiency 275
DCLRE1C
Severe combined immunodeficiency due to LCK deficiency 280142
LCK
Combined immunodeficiency due to ZAP70 deficiency 911
ZAP70
Severe combined immunodeficiency due to CORO1A deficiency 228003
CORO1A
Severe combined immunodeficiency due to complete RAG1/2 deficiency 331206
RAG1
RAG2
Combined immunodeficiency due to ORAI1 deficiency 317428
ORAI1
Combined immunodeficiency due to STIM1 deficiency 317430
STIM1
Severe combined immunodeficiency due to CARD11 deficiency 357237
CARD11
Severe combined immunodeficiency due to IKK2 deficiency 397787
IKBKB
Severe combined immunodeficiency due to LAT deficiency 504523
LAT
Combined immunodeficiency due to GINS1 deficiency 505227
GINS1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 35078
JAK3
Severe combined immunodeficiency due to CARMIL2 deficiency 542301
CARMIL2
SCID Due to ADA Deficiency, Early-Onset C1863236
ADA 23260757, 17185467, 6208479, 28266921, 2773932, 8051429, 2783588, 19179314, 8299233, 1346349, 9414266, 25525159, 1284479, 21664875, 25875700, 1974554, 8673127, 8227344, 2166947, 9758612, 3182793, 8401541, 9108404, 10200056, 19665771, 20544538, 26255240, 8178821, 7599635, 1680289, 9361033, 26376800, 27095930, 7554472, 11313286, 3475710, 22764473, 8614422, 11160213, 18952502, 27129325, 21624848, 2758612, 9806422, 9225964, 25954555, 14499267, 8258146, 22447032, 16276484, 16825284, 8589684, 3839802, 22968453
PKIG 26255240, 9758612, 1284479, 17185467, 9414266, 3475710, 23260757, 26376800, 16276484, 1346349, 19179314, 1680289, 21624848, 20544538, 8401541, 2773932, 9361033, 8258146, 9108404, 1974554, 28266921, 8614422, 3182793, 11313286, 2166947, 27095930, 7554472, 14499267, 11160213, 27129325, 8051429

 

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