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Entry | Name | Description | Category | Pathway | Gene |
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H00627 | Premature ovarian failure | Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins) ... | Reproductive system disease |
(POF1) FMR1 [HSA:2332] [KO:K15516] (POF2A) DIAPH2 [HSA:1730] [KO:K05741] (POF2B) POF1B [HSA:79983] [KO:K23917] (POF3) FOXL2 [HSA:668] [KO:K09405] (POF4) BMP15 [HSA:9210] [KO:K05498] (POF5) NOBOX [HSA:135935] [KO:K24199] (POF6) FIGLA [HSA:344018] [KO:K09066] (POF7) NR5A1 [HSA:2516] [KO:K08560] (POF8) STAG3 [HSA:10734] [KO:K13055] (POF9) HFM1 [HSA:164045] [KO:K15271] (POF10) MCM8 [HSA:84515] [KO:K10737] (POF11) ERCC6 [HSA:2074] [KO:K10841] (POF12) SYCE1 [HSA:93426] [KO:K19534] (POF13) MSH5 [HSA:4439] [KO:K08741] (POF14) GDF9 [HSA:2661] [KO:K22673] (POF15) FANCM [HSA:57697] [KO:K10896] (POF16) BNC1 [HSA:646] [KO:K24146] (POF17) XRCC2 [HSA:7516] [KO:K10879] (POF18) C14orf39 [HSA:317761] [KO:K25705] (POF19) HSF2BP [HSA:11077] [KO:K25791] (POF20) MSH4 [HSA:4438] [KO:K08740] (POF21) TP63 [HSA:8626] [KO:K10149] (POF22) KASH5 [HSA:147872] [KO:K22595] (POF23) MEIOB [HSA:254528] [KO:K22420] |
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H00642 |
Lacrimo-auriculo-dento-digital syndrome LADD syndrome Levy-Hollister syndrome |
Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterized by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness ... | Congenital malformation |
(LADD1) FGFR2 [HSA:2263] [KO:K05093] (LADD2) FGFR3 [HSA:2261] [KO:K05094] (LADD3) FGF10 [HSA:2255] [KO:K04358] |
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H00677 | Aplasia of lacrimal and salivary glands | ... characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable eyes and dryness of the mouth. Mutations in FGF10 were recently described in ALSG. | Congenital malformation | FGF10 [HSA:2255] [KO:K04358] | |
H01282 | Spermatogenic failure | Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... | 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] (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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H01810 | Congenital myopathy | The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital ... | Nervous system disease; Musculoskeletal disease |
(CMYP1A/1B) RYR1 [HSA:6261] [KO:K04961] (CMYP2A/2B/2C) ACTA1 [HSA:58] [KO:K10354] (CMYP3) SELENON [HSA:57190] [KO:K19874] (CMYP4) TPM3 [HSA:7170] [KO:K09290] (CMYP5) TTN [HSA:7273] [KO:K12567] (CMYP6) MYH2 [HSA:4620] [KO:K24220] (CMYP7) MYH7 [HSA:4625] [KO:K17751] (CMYP8) ACTN2 [HSA:88] [KO:K21073] (CMYP9) FXR1 [HSA:8087] [KO:K15516] (CMYP10A/10B) MEGF10 [HSA:84466] [KO:K24068] (CMYP11) HACD1 [HSA:9200] [KO:K10703] (CMYP12) CNTN1 [HSA:1272] [KO:K06759] (CMYP13) STAC3 [HSA:246329] [KO:K23713] (CMYP14) MYL1 [HSA:4632] [KO:K05738] (CMYP15) TNNC2 [HSA:7125] [KO:K12042] (CMYP16) MYBPC1 [HSA:4604] [KO:K12557] (CMYP17) MYOD1 [HSA:4654] [KO:K09064] (CMYP18) CACNA1S [HSA:779] [KO:K04857] (CMYP19) PAX7 [HSA:5081] [KO:K09381] (CMYP20) RYR3 [HSA:6263] [KO:K04963] (CMYP21) DNAJB4 [HSA:11080] [KO:K09510] (CMYP22A/22B) SCN4A [HSA:6329] [KO:K04837] (CMYP23) TPM2 [HSA:7169] [KO:K10374] (CMYP24) MYPN [HSA:84665] [KO:K22028] (CMND) SPTBN4 [HSA:57731] [KO:K06115] |
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H02257 | Factor X deficiency | Congenital factor X deficiency (FXD) is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner. FXD is accompanied by a wide spectrum of clinical presentations ... | Hematologic disease | F10 [HSA:2159] [KO:K01314] | |
H02321 | Early-onset myopathy, areflexia, respiratory distress, and dysphagia | ... characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual features on muscle biopsy. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause EMRDD. | Musculoskeletal disease | MEGF10 [HSA:84466] [KO:K24068] | |
H02610 | Head and neck squamous cell carcinoma | Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer in the world, affecting the pharynx, larynx and oral cavity. It is well known that smoking and alcohol abuse are major risk ... | Cancer |
TNFRSF10B [HSA:8795] [KO:K04722] ING1 [HSA:3621] [KO:K19197] |
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H02649 | Autosomal dominant slowed nerve conduction velocity | ... is a rare hereditary neuropathy characterized by thin myelination of peripheral nerves. Mutations in ARHGEF10 have been identified. ARHGEF10 encodes a Rho GEF that is implicated in neural morphogenesis. | Nervous system disease | ARHGEF10 [HSA:9639] [KO:K16727] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |