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Entry Name Description Category Pathway Gene
H00088 Common variable immunodeficiency There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... Immune system disease (CVID1) ICOS [HSA:29851] [KO:K06713]
(CVID2) TNFRSF13B [HSA:23495] [KO:K05150]
(CVID3) CD19 [HSA:930] [KO:K06465]
(CVID4) TNFRSF13C [HSA:115650] [KO:K05151]
(CVID5) MS4A1 [HSA:931] [KO:K06466]
(CVID6) CD81 [HSA:975] [KO:K06508]
(CVID7) CR2 [HSA:1380] [KO:K04012]
(CVID8) LRBA [HSA:987] [KO:K24181]
(CVID10) NFKB2 [HSA:4791] [KO:K04469]
(CVID11) IL21 [HSA:59067] [KO:K05434]
(CVID12) NFKB1 [HSA:4790] [KO:K02580]
(CVID13) IKZF1 [HSA:10320] [KO:K09220]
(CVID14) IRF2BP2 [HSA:359948] [KO:K27448]
(CVID15) SEC61A1 [HSA:29927] [KO:K10956]
H00100 Neutropenic disorders Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria ... Primary immunodeficiency (SCN1) ELANE [HSA:1991] [KO:K01327]
(SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223]
(SCN3) HAX1 [HSA:10456] [KO:K16220]
(SCN4) G6PC3 [HSA:92579] [KO:K01084]
(SCN5) VPS45 [HSA:11311] [KO:K12479]
(SCN6) JAGN1 [HSA:84522] [KO:K25789]
(SCN7) CSF3R [HSA:1441] [KO:K05061]
(SCN8) SRP54 [HSA:6729] [KO:K03106]
(SCN9) CLPB [HSA:81570] [KO:K03695]
(SCN10) SRP68 [HSA:6730] [KO:K03107]
(SCN11) SEC61A1 [HSA:29927] [KO:K10956]
(SCNX) WAS [HSA:7454] [KO:K05747]
(CyN) ELANE [HSA:1991] [KO:K01327]
H00541 Autosomal dominant tubulointerstitial kidney disease Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading ... Urinary system disease (ADTKD1) UMOD [HSA:7369] [KO:K18274]
(ADTKD2) MUC1 [HSA:4582] [KO:K06568]
(ADTKD3) HNF1B [HSA:6928] [KO:K08034]
(ADTKD4) REN [HSA:5972] [KO:K01380]
(ADTKD5) SEC61A1 [HSA:29927] [KO:K10956]
(ADTKD6) APOA4 [HSA:337] [KO:K08760]
H02011 Familial juvenile hyperuricemic nephropathy Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder, which is characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid (FEUA) ... Inherited metabolic disorder; Urinary system disease (HNFJ1) UMOD [HSA:7369] [KO:K18274]
(HNFJ2) REN [HSA:5972] [KO:K01380]
(HNFJ4) SEC61A1 [HSA:29927] [KO:K10956]
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