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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00995 | Combined deficiency of vitamin K-dependent clotting factors | Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder consisting of a deficiency of clotting factors II, VII, IX, and X , as well as the coagulation inhibitors ... | Cardiovascular disease |
(VKCFD1) GGCX [HSA:2677] [KO:K10106] (VKCFD2) VKORC1 [HSA:79001] [KO:K05357] |
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| H01205 |
Coumarin resistance Warfarin resistance |
... gender, and genetic factors. Warfarin acts through interference with the recycling of vitamin K in the liver. It has been reported that mutations in VKORC1, CYP2C9, and GGCX cause warfarin resistance. | Inherited metabolic disorder |
VKORC1 [HSA:79001] [KO:K05357] CYP2A6 [HSA:1548] [KO:K17683] CYP2C9 [HSA:1559] [KO:K17719] GGCX [HSA:2677] [KO:K10106] |
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| H01691 | Renal angiomyolipoma | ... form heterodimers, whose most important role is inhibition of the mTOR pathway. Loss of inhibition of mTORC1 leads to increased activation of this pathway and the formation of the lesions characteristic of ... | Neoplasm |
(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
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| H01889 |
Meier-Gorlin syndrome Ear-patella-short statute syndrome |
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings ... | Congenital malformation |
(MGORS1) ORC1 [HSA:4998] [KO:K02603] (MGORS2) ORC4 [HSA:5000] [KO:K02606] (MGORS3) ORC6 [HSA:23594] [KO:K02608] (MGORS4) CDT1 [HSA:81620] [KO:K10727] (MGORS5) CDC6 [HSA:990] [KO:K02213] (MGORS6) GMNN [HSA:51053] [KO:K10749] (MGORS7) CDC45 [HSA:8318] [KO:K06628] (MGORS8) MCM5 [HSA:4174] [KO:K02209] |
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| H02446 | Autosomal recessive macrocephaly/megalencephaly syndrome | ... intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. | Congenital malformation | TBC1D7 [HSA:51256] [KO:K20396] | |
| H02697 | Long-Olsen-Distelmaier syndrome | ... abnormalities. It has been reported that gain-of-function mutations in RRAGC cause this disease. RRAGC encodes a Rag protein that is part of a unique family of small GTPases known to regulate mTORC1 signaling. | Congenital malformation | RRAGC [HSA:64121] [KO:K16186] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |