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Entry | Name | Description | Category | Pathway | Gene |
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H00255 | Hypogonadotropic hypogonadism | Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either ... | 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] |
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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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H02084 | Native American myopathy | ... North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in STAC3 as the cause for NAM. | Nervous system disease; Musculoskeletal disease | STAC3 [HSA:246329] [KO:K23713] |
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