Search Result

 Top
121 to 130 of 130 Prev 1 2 3 4
Entry Name Description Category Pathway Gene
H02513 Oculopharyngodistal myopathy ... facial, pharyngeal, and distal limb muscles. Noncoding CGG repeat expansion in LRP12 has been identified in patients. It has also been reported that expansion of GGC repeat in GIPC1 is associated with OPDM. Musculoskeletal disease (OPDM1) LRP12 [HSA:29967] [KO:K20050]
(OPDM2) GIPC1 [HSA:10755] [KO:K20056]
(OPDM3) NOTCH2NLC [HSA:100996717] [KO:K24466]
(OPDM4) RILPL1 [HSA:353116] [KO:K20173]
H02520 Phosphoenolpyruvate carboxykinase deficiency Phosphoenolpyruvate carboxykinase deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular ... Inherited metabolic disorder (PCKDC) PCK1 [HSA:5105] [KO:K01596]
(PCKDM) PCK2 [HSA:5106] [KO:K01596]
H02524 Ataxia-pancytopenia syndrome Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder, characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes ... Hematologic disease SAMD9L [HSA:219285] [KO:K23949]
H02530 Hereditary prostate cancer Hereditary prostate cancer (HPC) has been used to characterize families with a particularly strong history of prostate cancer and includes those families with either: three or more affected first-degree ... Cancer (HPC1) RNASEL [HSA:6041] [KO:K01165]
(HPC2) ELAC2 [HSA:60528] [KO:K00784]
(HPC9) HOXB13 [HSA:10481] [KO:K09298]
(HPC12) EHBP1 [HSA:23301] [KO:K25572]
(HPC13) MSMB [HSA:4477] [KO:K25684]
H02565 Hereditary nonpolyposis colorectal cancer Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is characterized by inherited predisposition to early colorectal carcinoma and extracolonic epithelia-derived tumors most often located in the ... Cancer (HNPCC1) MSH2 [HSA:4436] [KO:K08735]
(HNPCC2) MLH1 [HSA:4292] [KO:K08734]
(HNPCC4) PMS2 [HSA:5395] [KO:K10858]
(HNPCC5) MSH6 [HSA:2956] [KO:K08737]
(HNPCC6) TGFBR2 [HSA:7048] [KO:K04388]
(HNPCC7) MLH3 [HSA:27030] [KO:K08739]
(HNPCC8) EPCAM [HSA:4072] [KO:K06737]
H02584 Ferguson-Bonni neurodevelopmental syndrome ... syndrome (FERBON) is an autosomal recessive intellectual disability syndrome caused by mutations in ANAPC7. ANAPC7 encodes APC7, a core component of the E3 ubiquitin ligase anaphase promoting complex. It ... Congenital malformation ANAPC7 [HSA:51434] [KO:K03354]
H02608 Autoinflammatory-pancytopenia syndrome Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis ... Immune system disease DNASE2 [HSA:1777] [KO:K01158]
H02611 Turnpenny-Fry syndrome ... developmental delay, facial dysmorphism, and skeletal abnormalities. It has been reported that mutations in PCGF2 cause this syndrome. PCGF2 plays a role in embryogenesis, cell proliferation, histone modification ... Congenital malformation PCGF2 [HSA:7703] [KO:K11460]
H02660 Autoinflammation with pulmonary and cutaneous vasculitis Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis. It has been reported that AIPCV ... Immune system disease HCK [HSA:3055] [KO:K08893]
H02685 Developmental delay with neuropsychiatric disorders Developmental delay with neuropsychiatric disorders is a group of neurodevelopmental disorders characterized by global developmental delay and neurologic deficits. Additional features may include speech ... Congenital malformation (DIGFAN) MORC2 [HSA:22880] [KO:K24135]
(DDISBA) SPTBN1 [HSA:6711] [KO:K06115]
(DEHMBA) SRCAP [HSA:10847] [KO:K11661]
(DENBA) LMBRD2 [HSA:92255]
(DEDISB) ARFGEF1 [HSA:10565] [KO:K18442]
(DEDHIL) FBXW7 [HSA:55294] [KO:K10260]
(DEDBANP) ADGRL1 [HSA:22859] [KO:K04592]
(DEVLO) ARPC4 [HSA:10093] [KO:K05755]
(DEDHMB) GOLGA2 [HSA:2801] [KO:K20358]
(DDDS) MANF [HSA:7873] [KO:K22556]
(DDVIBA) TCF20 [HSA:6942] [KO:K24769]
(DIDOD) PHIP [HSA:55023] [KO:K11797]
(DDIB) TAOK1 [HSA:57551] [KO:K04429]
(DEVDFB) U2AF2 [HSA:11338] [KO:K12837]
121 to 130 of 130 Prev 1 2 3 4
[ KEGG | DISEASE | DRUG | MEDICUS ]