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Entry | Name | Description | Category | Pathway | Gene |
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H00080 | Systemic lupus erythematosus | Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain ... | Immune system disease | hsa05322 Systemic lupus erythematosus |
(SLE) PTPN22 [HSA:26191] [KO:K18024] (SLE) FCGR2A [HSA:2212] [KO:K06472] (SLE) FCGR2B [HSA:2213] [KO:K12560] (SLE) CTLA4 [HSA:1493] [KO:K06538] (SLE) TREX1 [HSA:11277] [KO:K10790] (SLE) DNASE1 [HSA:1773] [KO:K11994] (SLEB1) TLR5 [HSA:7100] [KO:K10168] (SLEB2) PDCD1 [HSA:5133] [KO:K06744] (SLEB9) CR2 [HSA:1380] [KO:K04012] (SLEB10) IRF5 [HSA:3663] [KO:K09446] (SLEB11) STAT4 [HSA:6775] [KO:K11222] (SLEB16) DNASE1L3 [HSA:1776] [KO:K11995] (SLEB17) TLR7 [HSA:51284] [KO:K05404] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] C2 [HSA:717] [KO:K01332] C4A [HSA:720] [KO:K03989] TNF [HSA:7124] [KO:K03156] FCGR3A [HSA:2214] [KO:K06463] FCGR3B [HSA:2215] [KO:K06463] CRP [HSA:1401] [KO:K16143] ZNF423 [HSA:23090] [KO:K22870] |
H00102 | Classic complement pathway component defects | Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways ... | Primary immunodeficiency |
(C1QD1) C1QA [HSA:712] [KO:K03986] (C1QD2) C1QB [HSA:713] [KO:K03987] (C1QD3) C1QC [HSA:714] [KO:K03988] (C1SD) C1S [HSA:716] [KO:K01331] (C2D) C2 [HSA:717] [KO:K01332] (C3D) C3 [HSA:718] [KO:K03990] (C4AD) C4A [HSA:720] [KO:K03989] (C4BD) C4B [HSA:721] [KO:K03989] |
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H00230 | Hereditary spherocytosis | Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis. | Hematologic disease |
(SPH1) ANK1 [HSA:286] [KO:K10380] (SPH2) SPTB [HSA:6710] [KO:K27409] (SPH3) SPTA1 [HSA:6708] [KO:K27408] (SPH4) SLC4A1 [HSA:6521] [KO:K06573] (SPH5) EPB42 [HSA:2038] [KO:K25094] |
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H00232 | Hereditary stomatocytosis | Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium. | Hematologic disease |
(OHST) RHAG [HSA:6005] [KO:K06580] (DHS1) PIEZO1 [HSA:9780] [KO:K22128] (DHS2) KCNN4 [HSA:3783] [KO:K04945] (PSHK2) ABCB6 [HSA:10058] [KO:K05661] (CHC) SLC4A1 [HSA:6521] [KO:K06573] (SDCHCN) SLC2A1 [HSA:6513] [KO:K07299] |
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H00361 | Malaria | Malaria, the most common parasitic disease in the world, is caused by Plasmodium parasites that are transmitted by female Anopheline mosquitoes. Plasmodium infections result in a spectrum of clinical effects ... | Parasitic infectious disease | hsa05144 Malaria |
ACKR1 (protection) [HSA:2532] [KO:K06574] CD36 (susceptibility/reduced risk) [HSA:948] [KO:K06259] CISH (susceptibility) [HSA:1154] [KO:K04701] CR1 (resistance) [HSA:1378] [KO:K04011] FCGR2A (susceptibility) [HSA:2212] [KO:K06472] FCGR2B (resistance) [HSA:2213] [KO:K12560] G6PD (resistance) [HSA:2539] [KO:K00036] GYPA (resistance) [HSA:2993] [KO:K06575] GYPB (resistance) [HSA:2994] [KO:K20925] GYPC (resistance) [HSA:2995] [KO:K06576] HBB (resistance) [HSA:3043] [KO:K13823] ICAM1 (susceptibility) [HSA:3383] [KO:K06490] NOS2 (resistance) [HSA:4843] [KO:K13241] SLC4A1 (resistance) [HSA:6521] [KO:K06573] TIRAP (protection) [HSA:114609] [KO:K05403] TNF (susceptibility) [HSA:7124] [KO:K03156] |
H00428 | Distal renal tubular acidosis (RTA type 1) | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. The distal type of RTA (dRTA) arises when ... | Urinary system disease |
(DRTA1/DRTA4) SLC4A1 [HSA:6521] [KO:K06573] (DRTA2) ATP6V1B1 [HSA:525] [KO:K02147] (DRTA3) ATP6V0A4 [HSA:50617] [KO:K02154] |
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H00429 | Proximal renal tubular acidosis (RTA type 2) | ... bicarbonate reabsorption in the proximal tubules, resulting in low renal bicarbonate threshold. Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA. | Urinary system disease | SLC4A4 [HSA:8671] [KO:K13575] | |
H00436 | Osteopetrosis | The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some ... | Congenital malformation |
(OPTA1) LRP5 [HSA:4041] [KO:K03068] (OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016] (OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282] (OPTB1) TCIRG1 [HSA:10312] [KO:K02154] (OPTB2) TNFSF11 [HSA:8600] [KO:K05473] (OPTB3) CA2 [HSA:760] [KO:K18245] (OPTB5) OSTM1 [HSA:28962] [KO:K23863] (OPTB7) TNFRSF11A [HSA:8792] [KO:K05147] (OPTB8) SNX10 [HSA:29887] [KO:K17924] (OPTB9) SLC4A2 [HSA:6522] [KO:K13855] |
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H00725 | Short QT syndrome | Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central ... | Cardiovascular disease |
(SQT1) KCNH2 [HSA:3757] [KO:K04905] (SQT2) KCNQ1 [HSA:3784] [KO:K04926] (SQT3) KCNJ2 [HSA:3759] [KO:K04996] (SQT7) SLC4A3 [HSA:6508] [KO:K13856] |
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H00960 |
Fuchs corneal dystrophy Fuchs endothelial corneal dystrophy |
Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descemet membrane, and deposition of extracellular matrix in the form of guttae ... | Nervous system disease |
(FECD1) COL8A2 [HSA:1296] [KO:K23455] (FECD3) TCF4 [HSA:6925] [KO:K15603] (FECD4) SLC4A11 [HSA:83959] [KO:K13862] (FECD6) ZEB1 [HSA:6935] [KO:K09299] (FECD8) AGBL1 [HSA:123624] [KO:K23436] |
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H00963 | Congenital hereditary endothelial dystrophy | ... been mapped to chromosome 20. The Solute Carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) has been identified as the candidate gene for CHED2. Mutations in SLC4A11 are described in Harboyan ... | Nervous system disease | SLC4A11 [HSA:83959] [KO:K13862] | |
H01136 | Carboxypeptidase N deficiency | Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although ... | Immune system disease | CPN1 [HSA:1369] [KO:K01292] | |
H01649 | Schizophrenia | ... synaptic structures on neurons. Recently, it has been found that alleles of the C4 genes are associated with schizophrenia in proportion to their tendency to promote greater expression of C4A in the brain. | Mental and behavioural disorder |
(SCZD4) PRODH [HSA:5625] [KO:K00318] (SCZD6) NRG1 [HSA:3084] [KO:K05455] (SCZD9) DISC1 [HSA:27185] [KO:K16534] (SCZD15) SHANK3 [HSA:85358] [KO:K15009] (SZCD17) NRXN1 [HSA:9378] [KO:K07377] (SCZD18) SLC1A1 [HSA:6505] [KO:K05612] (SCZD19) RBM12 [HSA:10137] [KO:K24526] MTHFR [HSA:4524] [KO:K25004] CHI3L1 [HSA:1116] [KO:K17523] SYN2 [HSA:6854] [KO:K19941] DRD3 [HSA:1814] [KO:K04146] RTN4R [HSA:65078] [KO:K16659] DAOA [HSA:267012] [KO:K24397] HTR2A [HSA:3356] [KO:K04157] AKT1 [HSA:207] [KO:K04456] C4A [HSA:720] [KO:K03989] APOL2 [HSA:23780] [KO:K14480] APOL4 [HSA:80832] [KO:K14480] |
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H01720 | Southeast Asian ovalocytosis | ... prevalence varying between 5% and 25%. SAO is now known to be caused by a 27 base-pair deletion in SLC4A1, which codes for band 3, a 911 amino acid protein that is both a structural component of the red ... | Hematologic disease | (SAO) SLC4A1 [HSA:6521] [KO:K06573] | |
H02002 | Cryohydrocytosis | Cryohydrocytosis (CHC) is an exceedingly rare condition which shows a mild stomatocytic haemolytic state with hyperbilirubinaemia. Red blood cells from patients with CHC have increased membrane permeability ... | Hematologic disease | (CHC) SLC4A1 [HSA:6521] [KO:K06573] | |
H02310 | Renal tubular acidosis | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different ... | Urinary system disease |
(type 1) SLC4A1 [HSA:6521] [KO:K06573] (type 1) ATP6V1B1 [HSA:525] [KO:K02147] (type 1) ATP6V0A4 [HSA:50617] [KO:K02154] (type 2) SLC4A4 [HSA:8671] [KO:K13575] (type 3) CA2 [HSA:760] [KO:K18245] (type 4) SCNN1A [HSA:6337] [KO:K04824] (type 4) SCNN1B [HSA:6338] [KO:K04825] (type 4) SCNN1G [HSA:6340] [KO:K04827] (type 4) NR3C2 [HSA:4306] [KO:K08555] (type 4) WNK1 [HSA:65125] [KO:K08867] (type 4) WNK4 [HSA:65266] [KO:K08867] (type 4) KLHL3 [HSA:26249] [KO:K10443] (type 4) CUL3 [HSA:8452] [KO:K03869] |
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H02397 | Neurodevelopmental disorder with movement abnormalities or hypotonia | Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or ... | Congenital malformation |
(NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704] (NEDBASH) NTNG2 [HSA:84628] [KO:K16359] (NEDIMAE) SYT1 [HSA:6857] [KO:K15290] (NEDHAHM) VAMP2 [HSA:6844] [KO:K13504] (NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768] (NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562] (NEDHYBA) CLCN3 [HSA:1182] [KO:K05012] (NEDDISH) MADD [HSA:8567] [KO:K26162] (NEDCHF) HDAC4 [HSA:9759] [KO:K11406] (NEDEMA) FRMD5 [HSA:84978] [KO:K23969] (NEDHFS) PGM2L1 [HSA:283209] [KO:K11809] (NEDHSS) EIF4A2 [HSA:1974] [KO:K03257] (NEDSTO) TNR [HSA:7143] [KO:K06252] (NEDSIS) CACNA1I [HSA:8911] [KO:K04856] (NEDIHSS) ESAM [HSA:90952] [KO:K06787] (NEDNMS) NRCAM [HSA:4897] [KO:K06756] (NEDRSO) SNAPC4 [HSA:6621] [KO:K09453] (NEDMSF) PUM1 [HSA:9698] [KO:K17943] (NEDHBA) SLC4A10 [HSA:57282] [KO:K13861] (NEDHLSS) CACNA1C [HSA:775] [KO:K04850] (NEDHCAS) PIGK [HSA:10026] [KO:K05290] (NEDDS) SHQ1 [HSA:55164] [KO:K14764] (NEDHYD) ADCY5 [HSA:111] [KO:K08045] (NEDNEH) CACNA1B [HSA:774] [KO:K04849] (NEDHELS) DEAF1 [HSA:10522] [KO:K23041] (NEDHCS) SNIP1 [HSA:79753] [KO:K13108] (NEDPM) ACBD6 [HSA:84320] (NEDHS) OTUD7A [HSA:161725] [KO:K11860] |
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