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Entry Name Description Category Pathway Gene
H00079 Asthma Asthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway ... Immune system disease hsa05310 Asthma IL4 [HSA:3565] [KO:K05430]
IL4RA [HSA:3566] [KO:K05071]
IL13 [HSA:3596] [KO:K05435]
FCER1B [HSA:2206] [KO:K08090]
TNFA [HSA:7124] [KO:K03156]
ADAM33 [HSA:80332] [KO:K08616]
CD14 [HSA:929] [KO:K04391]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
HLA-G [HSA:3135] [KO:K06751]
ADRB2 [HSA:154] [KO:K04142]
ALOX5 [HSA:240] [KO:K00461]
CCL11 [HSA:6356] [KO:K16597]
MUC7 [HSA:4589] [KO:K13909]
PLA2G7 [HSA:7941] [KO:K01062]
SCGB3A2 [HSA:117156] [KO:K25469]
(ASRT1) PTGDR [HSA:5729] [KO:K04332]
(ASRT2) NPSR1 [HSA:387129] [KO:K08376]
(ASRT5) IRAK3 [HSA:11213] [KO:K04732]
(ASRT7) CHI3L1 [HSA:1116] [KO:K17523]
H00091 T-B+Severe combined immunodeficiency ... and NK lymphocytes. The second most common variant is autosomal recessive and due to mutations of the JAK3 gene. IL-7R alpha gene mutations result in a pure T-cell deficiency. Rare cases of SCID consisting ... Primary immunodeficiency IL2RG [HSA:3561] [KO:K05070]
JAK3 [HSA:3718] [KO:K11218]
IL7R [HSA:3575] [KO:K05072]
PTPRC [HSA:5788] [KO:K06478]
CD3D [HSA:915] [KO:K06450]
CD3E [HSA:916] [KO:K06451]
CD247 [HSA:919] [KO:K06453]
CORO1A [HSA:11151] [KO:K13882]
BCL11B [HSA:64919] [KO:K22046]
H00480 X-linked intellectual developmental disorder
X-linked mental retardation 		X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... Mental and behavioural disorder (XLID1) IQSEC2 [HSA:23096] [KO:K12495]
(XLID3) HCFC1 [HSA:3054] [KO:K14966]
(XLID9) FTSJ1 [HSA:24140] [KO:K14864]
(XLID12) THOC2 [HSA:57187] [KO:K12879]
(XLID19) RPS6KA3 [HSA:6197] [KO:K04373]
(XLID21) IL1RAPL1 [HSA:11141] [KO:K05170]
(XLID29) ARX [HSA:170302] [KO:K09452]
(XLID30) PAK3 [HSA:5063] [KO:K05733]
(XLID41) GDI1 [HSA:2664] [KO:K17255]
(XLID58) TSPAN7 [HSA:7102] [KO:K06571]
(XLID63) ACSL4 [HSA:2182] [KO:K01897]
(XLID72) RAB39B [HSA:116442] [KO:K07925]
(XLID90) DLG3 [HSA:1741] [KO:K21098]
(XLID93) BRWD3 [HSA:254065] [KO:K11798]
(XLID96) SYP [HSA:6855]
(XLID97) ZNF711 [HSA:7552] [KO:K24376]
(XLID98) NEXMIF [HSA:340533] [KO:K25862]
(XLID99) USP9X [HSA:8239] [KO:K11840]
(XLID100) KIF4A [HSA:24137] [KO:K10395]
(XLID101) MID2 [HSA:11043] [KO:K10647]
(XLID103) KLHL15 [HSA:80311] [KO:K10452]
(XLID104) FRMPD4 [HSA:9758] [KO:K23956]
(XLID105) USP27X [HSA:389856] [KO:K11366]
(XLID106) OGT [HSA:8473] [KO:K09667]
(XLID107) STEEP1 [HSA:63932] [KO:K24996]
(XLID108) SLC9A7 [HSA:84679] [KO:K12041]
(XLID109) AFF2 [HSA:2334] [KO:K15194]
(XLID110) FGF13 [HSA:2258] [KO:K22413]
(XLID111) SLITRK2 [HSA:84631] [KO:K25833]
(XLID112) ZMYM3 [HSA:9203] [KO:K24675]
(XLID113) CSTF2 [HSA:1478] [KO:K14407]
H00766 Wolcott-Rallison syndrome Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during ... Endocrine and metabolic disease EIF2AK3 [HSA:9451] [KO:K08860]
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