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Entry Name Description Category Pathway Gene
H00093 Combined immunodeficiency ... recessive manner. Recurrent and opportunistic infections occur within the first year of life. The mutations in genes responsible for CRAC channel function, ORAI1 and STIM1, cause the defect in Ca2+ influx. Primary immunodeficiency CD40LG (TNFSF5) [HSA:959] [KO:K03161]
CD40 [HSA:958] [KO:K03160]
PNP [HSA:4860] [KO:K03783]
CD8A [HSA:925] [KO:K06458]
(IMD6) IL2RG [HSA:3561] [KO:K05070]
(IMD9) ORAI1 [HSA:84876] [KO:K16056]
(IMD10) STIM1 [HSA:6786] [KO:K16059]
(IMD11) CARD11 [HSA:84433] [KO:K07367]
(IMD12) MALT1 [HSA:10892] [KO:K07369]
(IMD15) IKBKB [HSA:3551] [KO:K07209]
(IMD16) TNFRSF4 [HSA:7293] [KO:K05142]
(IMD17) CD3G [HSA:917] [KO:K06452]
(IMD22) LCK [HSA:3932] [KO:K05856]
(IMD24) CTPS1 [HSA:1503] [KO:K01937]
(IMD37) BCL10 [HSA:8915] [KO:K07368]
(IMD40) DOCK2 [HSA:1794] [KO:K12367]
(IMD48) ZAP70 [HSA:7535] [KO:K07360]
(IMD50) MSN [HSA:4478] [KO:K05763]
(IMD55) GINS1 [HSA:9837] [KO:K10732]
(IMD59) HYOU1 [HSA:10525] [KO:K09486]
(IMD85) TOM1 [HSA:10043] [KO:K26401]
(IMD97) PIK3CG [HSA:5294] [KO:K21289]
(IMD110) STK4 [HSA:6789] [KO:K04411]
(IMD112) MAP3K14 [HSA:9020] [KO:K04466]
H02258 Tubular aggregate myopathy ... aggregates, abnormal structures in the skeletal muscle. It has been reported that activating mutations in STIM1 and ORAI1 cause TAM. ORAI1 encodes a subunit of calcium release-activated calcium (CRAC) channel ... Musculoskeletal disease (TAM1) STIM1 [HSA:6786] [KO:K16059]
(TAM2) ORAI1 [HSA:84876] [KO:K16056]
H02259 Stormorken syndrome ... thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might ... Hematologic disease STIM1 [HSA:6786] [KO:K16059]
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