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Entry Name Description Category Pathway Gene
H00098 Chronic granulomatous disease ... in the corresponding genes (gp91phox, p22phox, p47phox, and p67phox) are responsible for the four different genetic subgroups of CGD. Most cases (65%) involve mutations in gp91phox and are inherited in ... Primary immunodeficiency (CGDX) CYBB [HSA:1536] [KO:K21421]
(CGD1) NCF1 [HSA:653361] [KO:K08011]
(CGD3) NCF2 [HSA:4688] [KO:K08010]
(CGD3) NCF4 [HSA:4689] [KO:K08012]
(CGD4) CYBA [HSA:1535] [KO:K08009]
(CGD5) CYBC1 [HSA:79415] [KO:K25863]
H00099 Leukocyte adhesion deficiency ... high avidity for their cognate endothelial-cell ligands. Mutations in the KINDLIN3 (official symbol FERMT3), a gene that encodes an intracellular protein that interacts with cytoplasmic tails of beta-integrins ... Primary immunodeficiency ITGB2 [HSA:3689] [KO:K06464]
SLC35C1 [HSA:55343] [KO:K15279]
FERMT3 [HSA:83706] [KO:K17084]
RAC2 [HSA:5880] [KO:K07860]
H00100 Neutropenic disorders ... neutrophils. Since neutrophils play a major role in host defense against bacteria, neutropenia patients suffer from frequent episodes of opportunistic bacterial infections. Severe congenital neutropenia (SCN) ... 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]
H00107 Other well-defined immunodeficiency syndromes ... an autosomal recessive HIES associated with viral and mycobacterial infections. X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency, with manifestations ranging from fatal infectious ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00108 Autoimmune lymphoproliferative syndromes Autoimmune lymphoproliferative syndromes (ALPS) are autosomal dominant disorders with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes ... Primary immunodeficiency (ALPS1A) FAS [HSA:355] [KO:K04390]
(ALPS1B) FASLG [HSA:356] [KO:K04389]
(ALPS2A) CASP10 [HSA:843] [KO:K04400]
(ALPS2B) CASP8 [HSA:841] [KO:K04398]
(ALPS3) PRKCD [HSA:5580] [KO:K06068]
(ALPS4) NRAS [HSA:4893] [KO:K07828]
(ALPS5) CTLA4 [HSA:1493] [KO:K06538]
H00118 Congenital disorders of glycosylation type I ... enzymes which involves disrupted synthesis of the lipid linked oligosaccharide precursor and its transfer to polypeptide chain of protein, affecting N-glycan assembly in cytosol and endoplasmic reticulum ... Inherited metabolic disorder (CDG-Ia) PMM2 [HSA:5373] [KO:K17497]
(CDG-Ib) MPI [HSA:4351] [KO:K01809]
(CDG-Ic) ALG6 [HSA:29929] [KO:K03848]
(CDG-Id) ALG3 [HSA:10195] [KO:K03845]
(CDG-Ie) DPM1 [HSA:8813] [KO:K00721]
(CDG-If) MPDU1 [HSA:9526] [KO:K09660]
(CDG-Ig) ALG12 [HSA:79087] [KO:K03847]
(CDG-Ih) ALG8 [HSA:79053] [KO:K03849]
(CDG-Ii) ALG2 [HSA:85365] [KO:K03843]
(CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001]
(CDG-Ik) ALG1 [HSA:56052] [KO:K03842]
(CDG-IL) ALG9 [HSA:79796] [KO:K03846]
(CDG-Im) DOLK [HSA:22845] [KO:K00902]
(CDG-In) RFT1 [HSA:91869] [KO:K06316]
(CDG-Io) DPM3 [HSA:54344] [KO:K09659]
(CDG-Ip) ALG11 [HSA:440138] [KO:K03844]
(CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345]
(CDG-Ir) DDOST [HSA:1650] [KO:K12670]
(CDG-Is) ALG13 [HSA:79868] [KO:K07432]
(CDG-It) PGM1 [HSA:5236] [KO:K01835]
(CDG-Iu) DPM2 [HSA:8818] [KO:K09658]
(CDG-Iv) NGLY1 [HSA:55768] [KO:K01456]
(CDG-Iw) STT3A [HSA:3703] [KO:K07151]
(CDG-Ix) STT3B [HSA:201595] [KO:K07151]
(CDG-Iy) SSR4 [HSA:6748] [KO:K04571]
(CDG-Iaa) NUS1 [HSA:116150] [KO:K19177]
(CDG-Ibb) DHDDS [HSA:79947] [KO:K11778]
(CDG-Icc) MAGT1 [HSA:84061] [KO:K19478]
H00119 Congenital disorders of glycosylation type II ... psychomotor retardation, no peripheral neuropathy and a cerebellar hypoplasia. According to the serum transferrin glycoform, a portion of CDG-II can be diagnosed. Distinct from CDG-I, the serum trisialo- and ... Inherited metabolic disorder (CDG2A) MGAT2 [HSA:4247] [KO:K00736]
(CDG2B) GCS1 [HSA:7841] [KO:K01228]
(CDG2C) SLC35C1 [HSA:55343] [KO:K15279]
(CDG2D) B4GALT1 [HSA:2683] [KO:K07966]
(CDG2E) COG7 [HSA:91949] [KO:K20294]
(CDG2F) SLC35A1 [HSA:10559] [KO:K15272]
(CDG2G) COG1 [HSA:9382] [KO:K20288]
(CDG2H) COG8 [HSA:84342] [KO:K20295]
(CDG2I) COG5 [HSA:10466] [KO:K20292]
(CDG2J) COG4 [HSA:25839] [KO:K20291]
(CDG2K) TMEM165 [HSA:55858] [KO:K23541]
(CDG2L) COG6 [HSA:57511] [KO:K20293]
(CDG2M) SLC35A2 [HSA:7355] [KO:K15272]
(CDG2N) SLC39A8 [HSA:64116] [KO:K14714]
(CDG2O) CCDC115 [HSA:84317] [KO:K23543]
(CDG2P) TMEM199 [HSA:147007] [KO:K23542]
(CDG2Q) COG2 [HSA:22796] [KO:K20289]
(CDG2R) ATP6AP2 [HSA:10159] [KO:K19514]
(CDG2S) ATP6AP1 [HSA:537] [KO:K03662]
(CDG2T) GALNT2 [HSA:2590] [KO:K00710]
(CDG2V) EDEM3 [HSA:80267] [KO:K10086]
(CDG2W) SLC37A4 [HSA:2542] [KO:K08171]
(CDG2Y) GET4 [HSA:51608] [KO:K23387]
(CDG2Z) CAMLG [HSA:819] [KO:K22385]
(CDG2AA) STX5 [HSA:6811] [KO:K08490]
(CDG2BB) COG3 [HSA:83548] [KO:K20290]
H00120 Muscular dystrophy-dystroglycanopathy type A ... due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely ... Inherited metabolic disorder (MDDGA1) POMT1 [HSA:10585] [KO:K00728]
(MDDGA2) POMT2 [HSA:29954] [KO:K00728]
(MDDGA3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGA4) FKTN [HSA:2218] [KO:K19872]
(MDDGA5) FKRP [HSA:79147] [KO:K19873]
(MDDGA6) LARGE [HSA:9215] [KO:K09668]
(MDDGA7) CRPPA [HSA:729920] [KO:K21031]
(MDDGA8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) RXYLT1 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) POMK [HSA:84197] [KO:K17547]
(MDDGA13) B4GAT1 [HSA:11041] [KO:K21032]
(MDDGA14) GMPPB [HSA:29925] [KO:K00966]
H00129 Mucopolysaccharidosis type II
Hunter syndrome 		... urine. The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene. This disorder is characterized by mental retardation, coarse faces ... Inherited metabolic disorder, Lysosomal disease (MPS2) IDS [HSA:3423] [KO:K01136]
H00137 Niemann-Pick disease type A/B ... progressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types A and B NPD are likely due to small differences in the amount ... Inherited metabolic disorder, Lysosomal disease SMPD1 [HSA:6609] [KO:K12350]
H00143 Mucolipidosis II
I-cell disease 		... recessive lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-1-phosphate transferase which is multimeric enzyme involved in phosphotransfer of UDP-N-acetylglucosamine to lysosomal ... Inherited metabolic disorder, Lysosomal disease GNPTAB [HSA:79158] [KO:K08239]
H00147 Sialuria ... onset. Both disorders cause developmental delay, and ISSD is generally fatal in early childhood. The differential diagnosis of free sialic acid storage also includes French type sialuria, a disorder due to ... Inherited metabolic disorder, Lysosomal disease (SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301]
(French type) GNE [HSA:10020] [KO:K12409]
H00150 Danon disease
X-linked vacuolar cardiomyopathy and myopathy 		... disease because the disease is caused by the primary deficiency of a lysosomal membrane protein instead of a glycolytic enzyme and detailed pathological features are different from those of Pompe disease. Inherited metabolic disorder, Lysosomal disease LAMP2 [HSA:3920] [KO:K06528]
H00158 Lecithin:cholesterol acyltransferase deficiency
Norum disease
Fish-eye disease 		Lecithin:cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue ... Inherited metabolic disorder LCAT [HSA:3931] [KO:K00650]
H00165 Tyrosinemia ... neurologic crises, rickets, and hepatocarcinoma. Type II is caused by a deficiency of tyrosine aminotransferase (TAT), and clinically presents with hyperkeratotic plaques on the hands and soles of the feet ... Inherited metabolic disorder (TYRSN1) FAH [HSA:2184] [KO:K01555]
(TYRSN2) TAT [HSA:6898] [KO:K00815]
(TYRSN3) HPD [HSA:3242] [KO:K00457]
H00170 Piebaldism Piebaldism is caused by mutations of kit proto-oncogene implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected ... Inherited metabolic disorder (PBT) KIT [HSA:3815] [KO:K05091]
H00177 Neonatal adrenoleukodystrophy ... caused by defects in one of PEX genes, which encode proteins involved in peroxisome assembly and proliferation. The clinical course of patients with the NALD and IRD presentation is variable and may include ... Inherited metabolic disorder, Peroxisomal disease (PBD1B) PEX1 [HSA:5189] [KO:K13338]
(PBD2B) PEX5 [HSA:5830] [KO:K13342]
(PBD3B) PEX12 [HSA:5193] [KO:K13345]
(PBD4B) PEX6 [HSA:5190] [KO:K13339]
(PBD5B) PEX2 [HSA:5828] [KO:K06664]
(PBD6B) PEX10 [HSA:5192] [KO:K13346]
(PBD7B) PEX26 [HSA:55670] [KO:K13340]
(PBD8B) PEX16 [HSA:9409] [KO:K13335]
(PBD9B) PEX7 [HSA:5191] [KO:K13341]
(PBD10B) PEX3 [HSA:8504] [KO:K13336]
(PBD14B) PEX11B [HSA:8799] [KO:K13352]
H00189 Ornithinaemia
Gyrate Atrophy 		Ornithinemia due to deficiency of ornithine ketoacid aminotransferase induces hyperornithinemia and gyrate atrophy. Inherited metabolic disorder OAT [HSA:4942] [KO:K00819]
H00194 Lesch-Nyhan syndrome
Hypoxanthine-guanine phosophoribosyltransferase deficiency 		Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological ... Inherited metabolic disorder HPRT1 [HSA:3251] [KO:K00760]
H00195 Adenine phosphoribosyltransferase deficiency
2,8-Dihydroxyadenine urolithiasis 		Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine. Inherited metabolic disorder APRT [HSA:353] [KO:K00759]
H00201 Erythropoietic porphyria ... into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP) the most ... Inherited metabolic disorder (EPP1) FECH [HSA:2235] [KO:K01772]
(EPP2) CLPX [HSA:10845] [KO:K03544]
(CEP) UROS [HSA:7390] [KO:K01719]
(HEP) UROD [HSA:7389] [KO:K01599]
(XLDPP) ALAS2 [HSA:212] [KO:K00643]
H00203 Acatalasemia
Takahara disease 		... removes them with high efficiency. The Japanese, Swiss, and Hungarian types of acatalasemia display differences in biochemical and genetic aspects. Takahara's disease shows progressive oral gangrene and formerly ... Inherited metabolic disorder CAT [HSA:847] [KO:K03781]
H00208 Hyperbilirubinemia ... syndromes result in unconjugated hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin by conjugation with glucuronic acid. Gilbert ... Inherited metabolic disorder (CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699]
(DJS) ABCC2 [HSA:1244] [KO:K05666]
(RS) SLCO1B1 [HSA:10599] [KO:K05043]
(RS) SLCO1B3 [HSA:28234] [KO:K05043]
H00239 Bartter syndrome ... hypercalciuria. Type 1 and 2 are the neonatal type but genetically, clinically, and biochemically different. Type 4A shows Bartter syndrome with sensorineural deafness. Type 3 is classic Bartter syndrome ... Endocrine and metabolic disease (BARTS1) SLC12A1 [HSA:6557] [KO:K14425]
(BARTS2) KCNJ1 [HSA:3758] [KO:K04995]
(BARTS3) CLCNKB [HSA:1188] [KO:K05018]
(BARTS4A) BSND [HSA:7809] [KO:K19331]
(BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018]
(BARTS5) MAGED2 [HSA:10916] [KO:K24127]
(HYPOC1) CASR [HSA:846] [KO:K04612]
H00244 Pseudohypoparathyroidism Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype ... Endocrine and metabolic disease (PHP1A/1B/1C) GNAS [HSA:2778] [KO:K04632]
(PHP1B) STX16 [HSA:8675] [KO:K08489]
(PHP1B) GNAS-AS1 [HSA:149775]
H00247 Multiple endocrine neoplasia syndrome
Wermer syndrome
Sipple syndrome 		... glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid adenoma, gastrinoma, and pituitary adenoma ... Cancer (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00255 Hypogonadotropic hypogonadism ... genetically heterogeneous. Clinically, the disorder is characterized by an absence of puberty and infertility. The genetic condition is classically divided in 2 groups based on the presence or absence ... Endocrine and metabolic disease (HH1/KAL1) ANOS1 [HSA:3730] [KO:K23413]
(HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362]
(HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380]
(HH4/KAL4) PROK2 [HSA:60675] [KO:K24191]
(HH5/KAL5) CHD7 [HSA:55636] [KO:K14437]
(HH6/KAL6) FGF8 [HSA:2253] [KO:K04358]
(HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280]
(HH8) KISS1R [HSA:84634] [KO:K08374]
(HH9) NSMF [HSA:26012] [KO:K23844]
(HH10) TAC3 [HSA:6866] [KO:K05240]
(HH11) TACR3 [HSA:6870] [KO:K04224]
(HH12) GNRH1 [HSA:2796] [KO:K05252]
(HH13) KISS1 [HSA:3814] [KO:K23140]
(HH14) WDR11 [HSA:55717] [KO:K24260]
(HH15) HS6ST1 [HSA:9394] [KO:K02514]
(HH16) SEMA3A [HSA:10371] [KO:K06840]
(HH17) SPRY4 [HSA:81848] [KO:K17385]
(HH18) IL17RD [HSA:54756] [KO:K05167]
(HH19) DUSP6 [HSA:1848] [KO:K21946]
(HH20) FGF17 [HSA:8822] [KO:K04358]
(HH21) FLRT3 [HSA:23767] [KO:K16362]
(HH22) FEZF1 [HSA:389549] [KO:K24502]
(HH23/FEUNS) LHB [HSA:3972] [KO:K08521]
(HH24/IFSHD) FSHB [HSA:2488] [KO:K05250]
(HH25) NDNF [HSA:79625] [KO:K25687]
(HH26) TCF12 [HSA:6938] [KO:K15603]
(HH27) NHLH2 [HSA:4808] [KO:K09075]
H00265 Hereditary sensory and autonomic neuropathy ... affecting peripheral sensory and autonomic neurons. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Autonomic features vary between different subgroups. Nervous system disease (HSAN1/HSN1A) SPTLC1 [HSA:10558] [KO:K00654]
(HSAN1C) SPTLC2 [HSA:9517] [KO:K00654]
(HSAN2A) WNK1 [HSA:65125] [KO:K08867]
(HSAN2B) FAM134B [HSA:54463] [KO:K23880]
(HSAN2C) KIF1A [HSA:547] [KO:K10392]
(HSAN2D) SCN9A [HSA:6335] [KO:K04841]
(HSAN3) IKBKAP [HSA:8518] [KO:K11373]
(HSAN4) NTRK1 [HSA:4914] [KO:K03176]
(HSAN5) NGFB [HSA:4803] [KO:K02582]
(HSAN6) DST [HSA:667] [KO:K10382]
(HSAN7) SCN11A [HSA:11280] [KO:K04843]
(HSAN8) PRDM12 [HSA:59335] [KO:K24255]
(HSAN9) TECPR2 [HSA:9895] [KO:K23881]
(HSN1D) ATL1 [HSA:51062] [KO:K17339]
(HSN1E) DNMT1 [HSA:1786] [KO:K00558]
(HSN1F) ATL3 [HSA:25923] [KO:K17339]
H00269 Primary microcephaly Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume. Congenital malformation (MCPH1) MCPH1 [HSA:79648] [KO:K19403]
(MCPH2) WDR62 [HSA:284403] [KO:K21762]
(MCPH3) CDK5RAP2 [HSA:55755] [KO:K16542]
(MCPH4) KNL1 [HSA:57082] [KO:K11542]
(MCPH5) ASPM [HSA:259266] [KO:K16743]
(MCPH6) CENPJ [HSA:55835] [KO:K11502]
(MCPH7) STIL [HSA:6491] [KO:K16724]
(MCPH8) CEP135 [HSA:9662] [KO:K16461]
(MCPH9) CEP152 [HSA:22995] [KO:K16728]
(MCPH10) ZNF335 [HSA:63925] [KO:K24371]
(MCPH11) PHC1 [HSA:1911] [KO:K11456]
(MCPH12) CDK6 [HSA:1021] [KO:K02091]
(MCPH13) CENPE [HSA:1062] [KO:K11498]
(MCPH14) SASS6 [HSA:163786] [KO:K16487]
(MCPH15) MFSD2A [HSA:84879] [KO:K23894]
(MCPH16) ANKLE2 [HSA:23141] [KO:K21412]
(MCPH17) CIT [HSA:11113] [KO:K16308]
(MCPH18) WDFY3 [HSA:23001] [KO:K22262]
(MCPH19) COPB2 [HSA:9276] [KO:K17302]
(MCPH20) KIF14 [HSA:9928] [KO:K17915]
(MCPH21) NCAPD2 [HSA:9918] [KO:K06677]
(MCPH22) NCAPD3 [HSA:23310] [KO:K11491]
(MCPH23) NCAPH [HSA:23397] [KO:K06676]
(MCPH24) NUP37 [HSA:79023] [KO:K14302]
(MCPH25) TRAPPC14 [HSA:55262] [KO:K24261]
(MCPH26) LMNB1 [HSA:4001] [KO:K07611]
(MCPH27) LMNB2 [HSA:84823] [KO:K07611]
(MCPH28) RRP7A [HSA:27341] [KO:K14545]
(MCPH29) PDCD6IP [HSA:10015] [KO:K12200]
(MCPH30) BUB1 [HSA:699] [KO:K02178]
H00277 Enterohemorrhagic Escherichia coli (EHEC) infection ... contaminated food or contact with contaminated water, animal feces or infected animals. EHEC is also referred to as verocytotoxin producing E. coli (VTEC) or Shiga toxin producing E. coli (STEC). The serotype ... Bacterial infectious disease hsa05130 Pathogenic Escherichia coli infection
H00279 Uropathogenic Escherichia coli (UPEC) infection ... infections (UTIs), accounts for >80% of UTI infections worldwide. Once inside the urinary tract, UPEC preferentially colonizes the bladder and causes cystitis, but can also ascend through the ureters into the ... Bacterial infectious disease
H00289 Recurrent hydatidiform moles
Familial biparental hydatidiform 		Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is ... Reproductive system disease (HYDM) NALP7 [HSA:199713] [KO:K20864]
(HYDM2) KHDC3L [HSA:154288] [KO:K25076]
(HYDM3) MEI1 [HSA:150365] [KO:K25318]
(HYDM4) C11orf80 [HSA:79703] [KO:K24789]
H00296 Defects in RecQ helicases ... biochemical similarities between the BLM, WRN and RECQL4 proteins, the phenotypes of BS, WS and RTS are different, suggesting that each disease pathway is functionally distinct to some extent. BS is characterized ... Congenital malformation BLM [HSA:641] [KO:K10901]
WRN [HSA:7486] [KO:K10900]
RECQL4 [HSA:9401] [KO:K10730]
H00310 Q fever ... caused by Coxiella burnetii, a gram-negative obligate intracellular bacterium. This infection has many different reservoirs that mainly consist of dairy cattle. Infection in humans is often asymptomatic, but ... Bacterial infectious disease
H00311 Legionellosis
Legionnaires disease 		... transmitted by inhalation of contaminated aerosols and aspiration. Classically, it can cause two different forms of disease in humans: LD, with an incubation period of 2-10 days, which is a multisystem ... Bacterial infectious disease hsa05134 Legionellosis TLR5 [HSA:7100] [KO:K10168]
H00320 Helicobacter pylori infection ... fecal-oral route is thought to be the most plausible. The prevalence of HP infection varies between different geographical regions; generally, the prevalence is about 30% in developed and up to 80% in developing ... Bacterial infectious disease hsa05120 Epithelial cell signaling in Helicobacter pylori infection
H00330 Methicillin-resistant Staphylococcal aureus (MRSA) infection ... cause of infections in the community. Community-associated MRSA (CA-MRSA) strains are genetically different from MRSA strains originating in the hospital. Its increase in the community is of concern because ... Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H00331 Vancomycin-resistant Staphylococcal aureus (VRSA) infection ... penetration, such as joint spaces and the central nervous system. A gene known as vanA is a major determinant, which is transferable and can be acquired by sensitive bacteria from resistant organisms. Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H00335 Foodborne Clostridium perfringens intoxication ... bacterium consisting of five types (A-E), according to the major toxins they produce. It causes two different foodborne diseases: Type A food poisoning and Type C food poisoning. Type A causes relatively ... Bacterial infectious disease
H00379 Mosquito-borne viral encephalitis ... by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes. Arboviruses are zoonotic viruses and consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus. Viral infectious disease
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