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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00558 | Geroderma osteodysplasticum | ... osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been discovered in SCYL1BP1, which localizes to the Golgi apparatus and is expressed in skin and osteoblasts. | Congenital malformation |
SCYL1BP1 [HSA:92344] [KO:K19748] PYCR1 [HSA:5831] [KO:K00286] |
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| H00678 |
Achondrogenesis type IA Achondrogenesis, Houston-Harris type |
... growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by mutated TRIP11 encoding Golgi-associated microtubule-binding protein 210 in the Golgi apparatus. | Congenital malformation | TRIP11 [HSA:9321] [KO:K23368] | |
| H00770 | Congenital myasthenic syndrome | ... genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation and function depend. The majority are recessively inherited. The ... | Nervous system disease |
(CMS1A/1B) CHRNA1 [HSA:1134] [KO:K04803] (CMS2A/2C) CHRNB1 [HSA:1140] [KO:K04812] (CMS3A/3B/3C) CHRND [HSA:1144] [KO:K04816] (CMS4A/4B/4C) CHRNE [HSA:1145] [KO:K04817] (CMS5) COLQ [HSA:8292] [KO:K26586] (CMS6) CHAT [HSA:1103] [KO:K00623] (CMS7A/7B) SYT2 [HSA:127833] [KO:K19902] (CMS8) AGRN [HSA:375790] [KO:K06254] (CMS9) MUSK [HSA:4593] [KO:K05129] (CMS10) DOK7 [HSA:285489] [KO:K24038] (CMS11) RAPSN [HSA:5913] [KO:K24924] (CMS12) GFPT1 [HSA:2673] [KO:K00820] (CMS13) DPAGT1 [HSA:1798] [KO:K01001] (CMS14) ALG2 [HSA:85365] [KO:K03843] (CMS15) ALG14 [HSA:199857] [KO:K07441] (CMS16) SCN4A [HSA:6329] [KO:K04837] (CMS17) LRP4 [HSA:4038] [KO:K20051] (CMS18) SNAP25 [HSA:6616] [KO:K18211] (CMS19) COL13A1 [HSA:1305] [KO:K16617] (CMS20) SLC5A7 [HSA:60482] [KO:K14387] (CMS21) SLC18A3 [HSA:6572] [KO:K14636] (CMS22) PREPL [HSA:9581] [KO:K22582] (CMS23) SLC25A1 [HSA:6576] [KO:K15100] (CMS24) MYO9A [HSA:4649] [KO:K10360] (CMS25) VAMP1 [HSA:6843] [KO:K08510] |
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| H00811 | Distal arthrogryposis | ... are also referred to as Freeman-Sheldon syndrome and Sheldon-Hall syndrome, respectively. The most of causative genes have implicated proteins of the contractile apparatus of the fast-twitch myofibers. | Congenital malformation |
(DA1A, DA2B4) TPM2 [HSA:7169] [KO:K10374] (DA1B) MYBPC1 [HSA:4604] [KO:K12557] (DA1C) MYL11 [HSA:29895] [KO:K12758] (DA2A, DA2B3) MYH3 [HSA:4621] [KO:K24220] (DA2B1) TNNI2 [HSA:7136] [KO:K12043] (DA2B2) TNNT3 [HSA:7140] [KO:K12046] (DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128] (DA5D) ECEL1 [HSA:9427] [KO:K09610] (DA7) MYH8 [HSA:4626] [KO:K24220] (DA9) FBN2 [HSA:2201] [KO:K23342] (DA11) MET [HSA:4233] [KO:K05099] (DA12) ADAMTS15 [HSA:170689] [KO:K08629] |
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| H00844 |
Familial benign chronic pemphigus Hailey-Hailey disease |
... cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease. | Congenital malformation | ATP2C1 [HSA:27032] [KO:K01537] | |
| H01495 | Meniere disease | ... one derangement responsible for producing dysfunction within the cochlea and peripheral vestibular apparatus. Although the familial clustering and the geographical and racial differences in incidence suggest ... | Nervous system disease | ||
| H02287 | Deafness, dystonia, and cerebral hypomyelination | ... encodes BAP31, cause this disease. BAP31 is a chaperone protein involved in several pathways, including ER associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death. | Congenital malformation | BCAP31 [HSA:10134] [KO:K14009] | |
| H02553 | Visceral myopathy | ... smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. VSCM is most commonly caused by mutations in contractile apparatus cytoskeletal proteins. | Congenital malformation |
(VSCM1) ACTG2 [HSA:72] [KO:K12315] (VSCM2) MYH11 [HSA:4629] [KO:K10352] |
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| H02708 | Baralle-Macken syndrome | ... COPB1 encodes the beta-subunit of coat protein complex 1 (COPI), that is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum. | Congenital malformation | COPB1 [HSA:1315] [KO:K17301] | |
| H02726 | Kaya-Barakat-Masson syndrome | ... that mutations in YIF1B cause this syndrome. YIF1B encodes a trafficking protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and in Golgi apparatus morphology. | Congenital malformation | YIF1B [HSA:90522] [KO:K20362] | |
| H02729 | Ain-Naz type of dysostosis multiplex | ... regulator of the M6P pathway. LYSET is a Golgi-localized transmembrane protein important for the retention of the GNPT complex in the Golgi apparatus. GNPT is the enzyme that catalyzes the transfer of M6P. | Congenital malformation | LYSET [HSA:26175] [KO:K26747] |
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