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Entry Name Description Category Pathway Gene
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]
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]
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]
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]
H00963 Congenital hereditary endothelial dystrophy ... have 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]
H01720 Southeast Asian ovalocytosis ... with 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]
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]
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