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Entry | Name | Description | Category | Pathway | Gene |
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H00044 | Cancer of the anal canal | ... carcinoma of the anal canal accounts for 1.5 per cent of all digestive system cancers in the USA, with an estimated 4,660 new cases and 660 deaths in 2006. Epidemiological and molecular-biology studies have now ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] DCC (mutation) [HSA:1630] [KO:K06765] APC (mutation) [HSA:324] [KO:K02085] |
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H00342 | Tuberculosis | ... infectious disease caused by strains of mycobacteria, mainly Mycobacterium tuberculosis, resulting in an estimated two million deaths each year worldwide, more than from any other single bacterial pathogen. ... | Bacterial infectious disease | hsa05152 Tuberculosis |
IFNG (protection) [HSA:3458] [KO:K04687] IFNGR1 (susceptibility/protection) [HSA:3459] [KO:K05132] IFNGR2 [HSA:3460] [KO:K05133] HLA-DRB1 (susceptibility) [HSA:3123] [KO:K06752] HLA-DQB1 (susceptibility) [HSA:3119] [KO:K06752] SLC11A1 (susceptibility) [HSA:6556] [KO:K12347] VDR (susceptibility) [HSA:7421] [KO:K08539] MBL2 (protection) [HSA:4153] [KO:K03991] CCL2 (susceptibility) [HSA:6347] [KO:K14624] CD209 (susceptibility) [HSA:30835] [KO:K06563] CISH (susceptibility) [HSA:1154] [KO:K04701] IRGM (protection) [HSA:345611] [KO:K14139] SP110 (susceptibility) [HSA:3431] [KO:K24503] TIRAP (protection) [HSA:114609] [KO:K05403] TLR2 (susceptibility) [HSA:7097] [KO:K10159] |
H00668 | Anemia due to disorders of glutathione metabolism | ... dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in humans. It is estimated that about 400 million people are affected by this deficiency. A G6PD-deficient patient lacks ... | Hematologic disease |
G6PD [HSA:2539] [KO:K00036] GPX1 [HSA:2876] [KO:K00432] GCLC [HSA:2729] [KO:K11204] GSS [HSA:2937] [KO:K21456] GSR [HSA:2936] [KO:K00383] |
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H00974 | Blue cone monochromacy | ... remaining blue cones and rod photoreceptors. Patients present with reduced visual acuity, pendular nystagmus, and photophobia. The prevalence of blue cone monochromacy is estimated to be 1 in 100 000 males. | Nervous system disease |
OPN1LW [HSA:5956] [KO:K04251] OPN1MW [HSA:2652] [KO:K04251] |
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H01011 |
Adrenocorticotropic hormone deficiency Isolated ACDH deficiency |
... plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated cause of neonatal death. Recently, loss-of-function mutations in the human TPIT (TBX19) gene ... | Endocrine and metabolic disease | TBX19 [HSA:9095] [KO:K10184] | |
H01045 | Schistosomiasis | ... Schistosoma. Schistosomiasis is one of the most devastating tropical diseases in the world, and WHO estimates 600 million people at risk of infection with 200 million infected. Among nonimmune patients ... | Parasitic infectious disease | ||
H01153 | Human echinococcosis | ... larval stages of the cestode parasites Echinococcus granulosus and E. multilocularis, affecting an estimated 2-3 million people worldwide. Contamination of humans occurs by the ingestion of the parasite ... | Parasitic infectious disease | ||
H01282 | Spermatogenic failure | ... oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 genes play a role in spermatogenesis. | Reproductive system disease |
(SPGF1) SYCP2 [HSA:10388] [KO:K19529] (SPGF3) SLC26A8 [HSA:116369] [KO:K14705] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (SPGF5) AURKC [HSA:6795] [KO:K11480] (SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF7) CATSPER1 [HSA:117144] [KO:K16889] (SPGF8) NR5A1 [HSA:2516] [KO:K08560] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF10) SEPTIN12 [HSA:124404] [KO:K16938] (SPGF11) KLHL10 [HSA:317719] [KO:K10448] (SPGF12) NANOS1 [HSA:340719] [KO:K18741] (SPGF13) TAF4B [HSA:6875] [KO:K03129] (SPGF14) ZMYND15 [HSA:84225] [KO:K24081] (SPGF15) SYCE1 [HSA:93426] [KO:K19534] (SPGF16) SUN5 [HSA:140732] [KO:K21876] (SPGF17) PLCZ1 [HSA:89869] [KO:K05861] (SPGF18) DNAH1 [HSA:25981] [KO:K10408] (SPGF19) CFAP43 [HSA:80217] [KO:K24223] (SPGF20) CFAP44 [HSA:55779] [KO:K24224] (SPGF21) BRDT [HSA:676] [KO:K11724] (SPGF22) MEIOB [HSA:254528] [KO:K22420] (SPGF23) TEX14 [HSA:56155] [KO:K17540] (SPGF24) CFAP69 [HSA:79846] [KO:K24227] (SPGF25) TEX15 [HSA:56154] [KO:K25680] (SPGF26) TSGA10 [HSA:80705] [KO:K25632] (SPGF27) AK7 [HSA:122481] [KO:K00939] (SPGF28) FANCM [HSA:57697] [KO:K10896] (SPGF29) SPINK2 [HSA:6691] [KO:K23418] (SPGF30) TDRD9 [HSA:122402] [KO:K18408] (SPGF31) PMFBP1 [HSA:83449] [KO:K23223] (SPGF32) SOHLH1 [HSA:402381] [KO:K22495] (SPGF33) CFAP251 [HSA:144406] [KO:K24228] (SPGF34) FSIP2 [HSA:401024] [KO:K26675] (SPGF35) QRICH2 [HSA:84074] [KO:K24298] (SPGF36) PPP2R3C [HSA:55012] [KO:K11583] (SPGF37) TTC21A [HSA:199223] [KO:K24178] (SPGF38) ARMC2 [HSA:84071] [KO:K24123] (SPGF39) DNAH17 [HSA:8632] [KO:K10408] (SPGF40) CFAP65 [HSA:255101] [KO:K24226] (SPGF41) CFAP70 [HSA:118491] [KO:K24932] (SPGF42) TTC29 [HSA:83894] [KO:K24937] (SPGF43) SPEF2 [HSA:79925] [KO:K25615] (SPGF44) CEP112 [HSA:201134] [KO:K16767] (SPGF45) DNAH2 [HSA:146754] [KO:K10408] (SPGF46) DNAH8 [HSA:1769] [KO:K10408] (SPGF47) DZIP1 [HSA:22873] [KO:K16470] (SPGF48) M1AP [HSA:130951] [KO:K26106] (SPGF49) CFAP58 [HSA:159686] [KO:K25554] (SPGF50) XRCC2 [HSA:7516] [KO:K10879] (SPGF51) CFAP91 [HSA:89876] [KO:K25461] (SPGF52) C14orf39 [HSA:317761] [KO:K25705] (SPGF53) ACTL9 [HSA:284382] (SPGF54) CATIP [HSA:375307] [KO:K25788] (SPGF55) SPAG17 [HSA:200162] [KO:K25533] (SPGF56) DNAH10 [HSA:196385] [KO:K10408] (SPGF57) PNLDC1 [HSA:154197] [KO:K01148] (SPGF58) IFT74 [HSA:80173] [KO:K19679] (SPGF59) TERB2 [HSA:145645] [KO:K25750] (SPGF60) TERB1 [HSA:283847] [KO:K25749] (SPGF61) STAG3 [HSA:10734] [KO:K13055] (SPGF62) RNF212 [HSA:285498] [KO:K25662] (SPGF63) RPL10L [HSA:140801] [KO:K02866] (SPGF64) FBXO43 [HSA:286151] [KO:K10318] (SPGF65) DNHD1 [HSA:144132] [KO:K26555] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807] (SPGF70) PDHA2 [HSA:5161] [KO:K00161] (SPGF71) ZSWIM7 [HSA:125150] [KO:K25770] (SPGF72) WDR19 [HSA:57728] [KO:K19671] (SPGF73) MOV10L1 [HSA:54456] [KO:K13983] (SPGF74) MSH5 [HSA:4439] [KO:K08741] (SPGF75) SHOC1 [HSA:158401] (SPGF76) CCDC34 [HSA:91057] [KO:K16753] (SPGF77) FKBP6 [HSA:8468] [KO:K09572] (SPGF78) IQCN [HSA:80726] [KO:K26737] (SPGF79) KCNU1 [HSA:157855] [KO:K05274] (SPGF80) DRC1 [HSA:92749] [KO:K19754] (SPGF81) TEKT3 [HSA:64518] [KO:K18630] (SPGF82) AKAP3 [HSA:10566] [KO:K16520] (SPGF83) DNALI1 [HSA:7802] [KO:K10410] (SPGF84) CFAP61 [HSA:26074] [KO:K25460] (SPGF85) SPACA1 [HSA:81833] [KO:K25513] (SPGF86) ACTL7A [HSA:10881] (SPGF87) ACR [HSA:49] [KO:K01317] (SPGF88) KASH5 [HSA:147872] [KO:K22595] (SPGF89) AK9 [HSA:221264] [KO:K18533] (SPGF90) ARMC12 [HSA:221481] [KO:K24168] (SPGF91) CCIN [HSA:881] [KO:K24809] (SPGF92) LRRC23 [HSA:10233] (SPGF93) STK33 [HSA:65975] [KO:K08813] (SPGF94) CCDC146 [HSA:57639] (SPGFX2) TEX11 [HSA:56159] [KO:K24574] (SPGFX3) CFAP47 [HSA:286464] [KO:K25552] (SPGFX4) GCNA [HSA:93953] [KO:K26957] (SPGFX5) SSX1 [HSA:6756] [KO:K15624] (SPGFX6) USP26 [HSA:83844] [KO:K11850] (SPGFX7) CT55 [HSA:54967] [KO:K25478] |
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H01334 |
Tinea versicolor Pityriasis versicolor |
... multiple macules or patches on the trunk, with skip regions of normal skin in between. In addition, it is estimated that these species cause most skin disease in humans, including the most common cause of atopic ... | Fungal infectious disease | ||
H01375 | Glucose 6-phosphate dehydrogenase deficiency | ... biochemical and clinical phenotypes. G6PD deficiency is the most common enzymatic disorder in humans. It is estimated that about 400 million people are affected by this deficiency. More than 400 biochemical variants ... | Inherited metabolic disorder | G6PD [HSA:2539] [KO:K00036] | |
H01525 |
22q11.2 deletion syndrome CATCH22 |
The 22q11.2 deletion syndrome is the most common microdeletion disorder with an estimated prevalence of 1 in 3000-6000 live births. Most of the patients show the common 3 Mb deletion, but proximal 1.5 ... | Chromosomal abnormality | TBX1 [HSA:6899] [KO:K10175] | |
H01562 |
Patau syndrome Trisomy 13 |
... multiple congenital anomalies. It is one of the least common autosomal trisomies among live births with an estimated prevalence of 1:12000 - 1:29000 in newborns. The major clinical findings include cryptorchidism ... | Chromosomal abnormality | ||
H01564 |
Edwards syndrome Trisomy 18 |
... disease is the second-most common autosomal trisomy, after Down syndrome. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency ... | Chromosomal abnormality | ||
H01593 | Osteoporosis | ... values fall progressively with age, the prevalence of osteoporosis increases with age. It has been estimated that approximately 50% of all women will have osteoporosis by the age of 80. Studies in twins ... | Musculoskeletal disease |
(BMND1) LRP5 [HSA:4041] [KO:K03068] (BMND12) UGT2B17 [HSA:7367] [KO:K00699] (BMND15) MIR2861 [HSA:100422910] (BMND16) WNT1 [HSA:7471] [KO:K03209] (BMND17) LGR4 [HSA:55366] [KO:K04309] (BMND18) PLS3 [HSA:5358] [KO:K17336] (OPDD) COPB2 [HSA:9276] [KO:K17302] PDLIM4 [HSA:8572] [KO:K23353] CALCR [HSA:799] [KO:K04576] COL1A1 [HSA:1277] [KO:K06236] COL1A2 [HSA:1278] [KO:K06236] |
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H01633 |
High blood pressure Hypertension |
... an iatrogenic trigger, such as use of oral contraceptives. Blood pressure is a heritable trait; an estimated 30% of variance in blood pressure relates to genetic factors. Understanding of the genetic architecture ... | Cardiovascular disease |
(EHT) PTGIS [HSA:5740] [KO:K01831] (EHT) AGTR1 [HSA:185] [KO:K04166] (EHT) ADD1 [HSA:118] [KO:K18622] (EHT) AGT [HSA:183] [KO:K09821] (EHT) ECE1 [HSA:1889] [KO:K01415] (EHT) CYP3A5 [HSA:1577] [KO:K17690] (EHT) NOS3 [HSA:4846] [KO:K13242] (EHT) GNB3 [HSA:2784] [KO:K07825] NR3C2 [HSA:4306] [KO:K08555] (GRA) CYP11B2 [HSA:1585] [KO:K07433] (GRA) CYP11B1 [HSA:1584] [KO:K00497] (AME) HSD11B2 [HSA:3291] [KO:K00071] (LIDLS) SCNN1B [HSA:6338] [KO:K04825] (LIDLS) SCNN1G [HSA:6340] [KO:K04827] (LIDLS) SCNN1A [HSA:6337] [KO:K04824] |
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H01659 | Pityriasis rubra pilaris | ... with sharply-demarcated areas of follicular hyperkeratosis and erythema of the elbows and knees. An estimated 5% of children with PRP develop an atypical form classified as juvenile type V. Most familial ... | Immune system disease; Skin disease | CARD14 [HSA:79092] [KO:K20913] | |
H01690 | Lichen sclerosus et atrophicus | ... tacrolimus. The association between LSA and squamous cell carcinoma (SCC) is confirmed and has been described chiefly in females. The risk of SCC of the vulva has been estimated to about 5% in women with LSA. | Immune system disease; Skin disease | ||
H01773 |
4p deletion syndrome Wolf-Hirschhorn syndrome |
... skeletal anomalies, congenital heart defects, hearing loss, urinary tract malformations, and structural brain abnormalities. Incidence is estimated to be about 1:50.000 births with a 2:1 female: male ratio. | Chromosomal abnormality |
CPLX1 [HSA:10815] [KO:K15294] CTBP1 [HSA:1487] [KO:K04496] FGFRL1 [HSA:53834] [KO:K26107] LETM1 [HSA:3954] [KO:K17800] NSD2 [HSA:7468] [KO:K11424] |
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H01895 | Attention deficit hyperactivity disorder (ADHD) | ... social functioning, and/or other mental illness as adolescents and young adults. Although heritability estimates are consistently high, ADHD is a genetically complex disorder characterized by multifactorial ... | Mental and behavioural disorder |
(ADHD) DRD5 [HSA:1816] [KO:K05840] (ADHD) DRD4 [HSA:1815] [KO:K04147] (ADHD7) TPH2 [HSA:121278] [KO:K00502] (ADHD8) CDH2 [HSA:1000] [KO:K06736] |
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