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161 to 173 of 173 Prev 1 2 3 4 5
Entry Name Description Category Pathway Gene
H02535 Neurodevelopmental disorder with dysmorphic facies Neurodevelopmental disorder (NED) with dysmorphic facies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies. Several underlying genetic ... Congenital malformation (NEDBAF) RAC3 [HSA:5881] [KO:K07861]
(NEDFACH) EXOC2 [HSA:55770] [KO:K17637]
(NEDDFAC) SUPT16H [HSA:11198] [KO:K25639]
(NEDSID) SETD1A [HSA:9739] [KO:K11422]
(NDCAGF) INTS1 [HSA:26173] [KO:K13138]
(NECRC) ZMYM2 [HSA:7750] [KO:K24675]
(NEDDFAS) EMC10 [HSA:284361] [KO:K23570]
(NEDCAFD) TTC5 [HSA:91875] [KO:K24928]
(NEDFASB) KAT5 [HSA:10524] [KO:K11304]
(ODLURO) KMT2E [HSA:55904] [KO:K09189]
(CFNDS) CCDC32 [HSA:90416] [KO:K27410]
(CPPRDD) LRRC32 [HSA:2615] [KO:K26316]
(HINCONS) RALA [HSA:5898] [KO:K07834]
(ALKUS) SMG8 [HSA:55181] [KO:K18734]
(NEDFLPH) TMEM147 [HSA:10430] [KO:K26498]
(NEDGFAX) TCEAL1 [HSA:9338] [KO:K26769]
(NEDGFC) FRA10AC1 [HSA:118924] [KO:K13121]
(NEDFBA) SRSF1 [HSA:6426] [KO:K12890]
(NEDLBF) UBAP2L [HSA:9898] [KO:K26545]
(NEDGEF) ZNF668 [HSA:79759] [KO:K27106]
(NEDITPO) SMG9 [HSA:56006] [KO:K18735]
(NEDHFDB) WBP4 [HSA:11193] [KO:K13220]
H02538 Paraganglioma Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. The pathogenesis and progression of PGLs are very strongly ... Neoplasm (PGL1) SDHD [HSA:6392] [KO:K00237]
(PGL2) SDHAF2 [HSA:54949] [KO:K18168]
(PGL3) SDHC [HSA:6391] [KO:K00236]
(PGL4) SDHB [HSA:6390] [KO:K00235]
(PGL5) SDHA [HSA:6389] [KO:K00234]
(PGL6) SLC25A11 [HSA:8402] [KO:K15104]
(PGL7) DLST [HSA:1743] [KO:K00658]
H02547 BRENS syndrome ... skeletal (BRENS) syndrome is a severe ciliopathy disorder that segregates in an autosomal recessive manner. BRENS syndrome is caused by homozygous mutations in TTC26 gene, that encodes a ciliary protein. Congenital malformation TTC26 [HSA:79989] [KO:K19685]
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]
H02570 Cerebro-oculo-facio-skeletal syndrome Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2, ERCC5 and ERCC6. Congenital malformation (COFS1) ERCC6 [HSA:2074] [KO:K10841]
(COFS2) ERCC2 [HSA:2068] [KO:K10844]
(COFS3) ERCC5 [HSA:2073] [KO:K10846]
(COFS4) ERCC1 [HSA:2067] [KO:K10849]
H02595 Oculoskeletodental syndrome ... growth, and occasionally hearing impairments. It has been reported that loss-of-function mutations in PIK3C2A cause this syndrome. PIK3C2A is a class II member of the phosphoinositide 3-kinase family of lipid ... Congenital malformation PIK3C2A [HSA:5286] [KO:K00923]
H02596 Disorders of carnitine transport and the carnitine cycle Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Disorders of carnitine transport and the carnitine cycle are congenital defects of enzymes ... Inherited metabolic disorder CPT1A [HSA:1374] [KO:K08765]
CPT2 [HSA:1376] [KO:K08766]
SLC25A20 [HSA:788] [KO:K15109]
SLC22A5 [HSA:6584] [KO:K08202]
H02664 Joint contracture, osteochondromas, and B-cell lymphoma ... caused by complete deficiency of nuclear factor of activated T cells 1 (NFAT1). NFAT1 is encoded by NFATC2, and mediates calcium-calcineurin signals that drive cell activation, proliferation, and survival Cancer NFATC2 [HSA:4773] [KO:K17332]
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]
H02695 Fibrosis, neurodegeneration, and cerebral angiomatosis ... malabsorption, growth failure, recurrent infections, hemolytic anemia, liver dysfunction, and lung fibrosis that leads to respiratory failure and death. It has been reported that mutations in NHLRC2 cause FINCA. Congenital malformation NHLRC2 [HSA:374354]
H02701 Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression ... regression (MECREN) is a novel form of mitochondrial myopathy. It has been reported that mutations in SLC25A42 cause this disease. SLC25A42 gene encodes an inner mitochondrial membrane protein that imports ... Inherited metabolic disorder, Mitochondrial disease SLC25A42 [HSA:284439] [KO:K15085]
H02730 Severe congenital liver disease ... in FOCAD cause this disease. It has been suggested that FOCAD deficiency impairs the SKI mRNA surveillance pathway by reducing levels of the SKIC2 and SKIC3, two important components of the SKI complex. Digestive system disease FOCAD [HSA:54914] [KO:K27498]
H02764 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies ... retinitis pigmentosa, and distinctive facies (SHRF) is a newly described disease caused by mutations in EXOSC2. Patients exhibit childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing ... Congenital malformation EXOSC2 [HSA:23404] [KO:K03679]
161 to 173 of 173 Prev 1 2 3 4 5
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