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Entry Name Description Category Pathway Gene
H01614 Multiple system atrophy ... accumulation of alpha-synuclein fibrils in oligodendrocytes that form glial cytoplasmic inclusions (GCI), a neuropathological hallmark and central player in the pathogenesis of MSA. Although MSA is widely ... Neurodegenerative disease COQ2 [HSA:27235] [KO:K06125]
H01698 Giant cell arteritis
Temporal arteritis 		Giant cell arteritis (GCA), also known as temporal arteritis, is a chronic and polygenic immune-mediated disease of unknown etiology. It is the most common form of vasculitis in individuals over the age ... Immune system disease
H01702 Glucocorticoid resistance syndrome Glucocorticoid resistance (GCCR) is a rare syndrome characterized by decreased sensitivity to cortisol, increased secretion of cortisol, resistance to adrenal suppression by dexamethasone and the absence ... Endocrine and metabolic disease NR3C1 [HSA:2908] [KO:K05771]
H01730 Myocardial infarction Myocardial infarction (MI) or acute myocardial infarction (AMI) is a term for an event of heart attack. It is due to formation of plaques in the interior walls of the arteries resulting in reduced blood ... Cardiovascular disease ESR1 [HSA:2099] [KO:K08550]
F13A1 [HSA:2162] [KO:K03917]
F7 [HSA:2155] [KO:K01320]
GCLC [HSA:2729] [KO:K11204]
GCLM [HSA:2730] [KO:K11205]
ITGB3 [HSA:3690] [KO:K06493]
LRP8 [HSA:7804] [KO:K20052]
LTA [HSA:4049] [KO:K05468]
OLR1 [HSA:4973] [KO:K08763]
PSMA6 [HSA:5687] [KO:K02730]
TNFSF4 [HSA:7292] [KO:K05469]
LGALS2 [HSA:3957] [KO:K10090]
H01862 Hypoparathyroidism ... familial isolated hypoparathyroidism. And a mutation of the parathyroid-specific transcription factor GCMB (GCM2) gene has also been reported in autosomal recessive hypoparathyroidism. Oral calcium and vitamin ... Endocrine and metabolic disease (FIH1) PTH [HSA:5741] [KO:K05261]
(FIH2) GCM2 [HSA:9247] [KO:K21598]
H01880 Autosomal recessive microcephaly and chorioretinopathy Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism ... Congenital malformation (MCCRP1) TUBGCP6 [HSA:85378] [KO:K16573]
(MCCRP2) PLK4 [HSA:10733] [KO:K08863]
(MCCRP3) TUBGCP4 [HSA:27229] [KO:K16571]
H01894 Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis ... Inherited metabolic disorder, Mitochondrial disease (MMDS1) NFU1 [HSA:27247] [KO:K22074]
(MMDS2) BOLA3 [HSA:388962] [KO:K22075]
(MMDS3) IBA57 [HSA:200205] [KO:K22073]
(MMDS4) ISCA2 [HSA:122961] [KO:K22072]
(MMDS5) ISCA1 [HSA:81689] [KO:K22063]
(MMDS6) PMPCB [HSA:9512] [KO:K17732]
(MMDS7) GCSH [HSA:2653] [KO:K02437]
(MMDS9B) FDXR [HSA:2232] [KO:K18914]
H01959 Muscular dystrophy-dystroglycanopathy type C ... dystroglycanopathy patients is extremely variable. Muscular dystrophy-dystroglycanopathy type C (MDDGC) is the mildest clinical spectrum. It is late onset limb-girdle muscular dystrophy with no associated ... Inherited metabolic disorder (MDDGC1) POMT1 [HSA:10585] [KO:K00728]
(MDDGC2) POMT2 [HSA:29954] [KO:K00728]
(MDDGC3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGC4) FKTN [HSA:2218] [KO:K19872]
(MDDGC5) FKRP [HSA:79147] [KO:K19873]
(MDDGC7) CRPPA [HSA:729920] [KO:K21031]
(MDDGC8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGC9) DAG1 [HSA:1605] [KO:K06265]
(MDDGC12) POMK [HSA:84197] [KO:K17547]
(MDDGC14) GMPPB [HSA:29925] [KO:K00966]
(MDDGC15) DPM3 [HSA:54344] [KO:K09659]
H02104 Megalocornea
X-linked megalocornea 		Megalocornea (MGC1) is a rare congenital disease of the anterior eye segment characterized by bilateral enlarged corneas with a horizontal diameter of 13 mm or more (measured after the age of two years) ... Nervous system disease CHRDL1 [HSA:91851] [KO:K24520]
H02106 Genetic obesity Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important ... Endocrine and metabolic disease NR0B2 [HSA:8431] [KO:K08563]
SDC3 [HSA:9672] [KO:K16337]
POMC [HSA:5443] [KO:K05228]
GHRL [HSA:51738] [KO:K05254]
PPARG [HSA:5468] [KO:K08530]
CARTPT [HSA:9607] [KO:K25453]
PPARGC1B [HSA:133522] [KO:K17962]
ENPP1 [HSA:5167] [KO:K01513]
ADRB2 [HSA:154] [KO:K04142]
ADRB3 [HSA:155] [KO:K04143]
AGRP [HSA:181] [KO:K05231]
UCP1 (polymorphism) [HSA:7350] [KO:K08769]
UCP3 [HSA:7352] [KO:K15103]
(BMIQ4) UCP2 [HSA:7351] [KO:K15103]
(BMIQ9) MC3R [HSA:4159] [KO:K04201]
(BMIQ10) FFAR4 [HSA:338557] [KO:K08425]
(BMIQ11) SLC6A14 [HSA:11254] [KO:K05047]
(BMIQ12) PCSK1 [HSA:5122] [KO:K01359]
(BMIQ14) FTO [HSA:79068] [KO:K19469]
(BMIQ17) AQP7 [HSA:364] [KO:K08771]
(BMIQ18) MRAP2 [HSA:112609] [KO:K25968]
(BMIQ19) ADCY3 [HSA:109] [KO:K08043]
(BMIQ20) MC4R [HSA:4160] [KO:K04202]
H02161 Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused ... Congenital malformation GLI3 [HSA:2737] [KO:K06230]
H02187 Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened ... Congenital malformation (SEMDSTWK) COL2A1 [HSA:1280] [KO:K19719]
(SEMDSH) DDRGK1 [HSA:65992] [KO:K23344]
(SEMDFA) RSPRY1 [HSA:89970] [KO:K23332]
(SEMDDR) UFSP2 [HSA:55325] [KO:K01376]
(SEMDIST) RPL13 [HSA:6137] [KO:K02873]
(SEMDIK) SIK3 [HSA:23387] [KO:K19009]
(SEMDAG) ACAN [HSA:176] [KO:K06792]
(SEMDG) NANS [HSA:54187] [KO:K05304]
(SEMDSP) TONSL [HSA:4796] [KO:K09257]
(SEMDX) BGN [HSA:633] [KO:K08118]
(SEMDM) MMP13 [HSA:4322] [KO:K07994]
(SEMDHL) AIFM1 [HSA:9131] [KO:K04727]
(SEMDGC) ERI1 [HSA:90459] [KO:K18416]
H02223 Osteocraniostenosis
Gracile bone dysplasia 		Osteocraniostenosis, also known as gracile bone dysplasia (GCLEB), is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and ... Congenital malformation FAM111A [HSA:63901] [KO:K24274]
H02288 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) is an autosomal dominant retinal dystrophy with progressive loss of vision. It has been suggested that a missense ... Nervous system disease ITM2B [HSA:9445] [KO:K18264]
H02434 Diffuse large B-cell lymphoma, not otherwise specified ... (GEP) subdivides most DLBCL, NOS patients into two main categories, namely germinal center B-cell-like (GCB) and activated B-cell-like (ABC) DLBCL. GCB subtype is characterized by frequent mutations in involved ... Cancer EZH2 (mutation) [HSA:2146] [KO:K11430]
CREBBP (mutation/deletion) [HSA:1387] [KO:K04498]
EP300 (mutation/deletion) [HSA:2033] [KO:K04498]
GNA13 (mutation) [HSA:10672] [KO:K04639]
GNAI2 (mutation) [HSA:2768] [KO:K04346]
TNFRSF14 (mutation) [HSA:8764] [KO:K05152]
BCL6 (mutation) [HSA:604] [KO:K15618]
MYC (chromosomal translocation) [HSA:4609] [KO:K04377]
PTEN (deletion) [HSA:5728] [KO:K01110]
BCL2 (chromosomal translocation / mutation) [HSA:596] [KO:K02161]
CARD11 (mutation) [HSA:84433] [KO:K07367]
CD79A (mutation) [HSA:973] [KO:K06506]
CD79B (mutation) [HSA:974] [KO:K06507]
TNFAIP3 (mutation/deletion) [HSA:7128] [KO:K11859]
MYD88 (mutation) [HSA:4615] [KO:K04729]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
CDKN2B (deletion) [HSA:1030] [KO:K04685]
PRDM1 (mutation/deletion) [HSA:639] [KO:K24501]
MLL2 (mutation) [HSA:8085] [KO:K09187]
MLL3 (mutation) [HSA:58508] [KO:K09188]
B2M (mutation/deletion) [HSA:567] [KO:K08055]
CD58 (mutation/deletion) [HSA:965] [KO:K06492]
TP53 (mutation) [HSA:7157] [KO:K04451]
MEF2B (mutation) [HSA:100271849] [KO:K09261]
FOXO1 (mutation) [HSA:2308] [KO:K07201]
H02438 Hyperglycinemia, lactic acidosis, and seizures Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is characterized by neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. Mutations ... Inherited metabolic disorder LIAS [HSA:11019] [KO:K03644]
H02446 Autosomal recessive macrocephaly/megalencephaly syndrome Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms ... Congenital malformation TBC1D7 [HSA:51256] [KO:K20396]
H02460 Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and ... Congenital malformation (NEDDFSA) ZMIZ1 [HSA:57178] [KO:K22403]
(OCNDS) CSNK2A1 [HSA:1457] [KO:K03097]
(DEGCAGS) ZNF699 [HSA:374879] [KO:K09228]
(NEDCDS) HNRNPH1 [HSA:3187] [KO:K12898]
(NEDDFSB) HNRNPR [HSA:10236] [KO:K13161]
(NEDFSS) TRPM3 [HSA:80036] [KO:K04978]
(NEDSFF) DPH5 [HSA:51611] [KO:K00586]
H02461 Neurodevelopmental disorder with microcephaly Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... Congenital malformation (NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304]
(NEDMCR) GEMIN4 [HSA:50628] [KO:K13132]
(NDMSBA) PLAA [HSA:9373] [KO:K14018]
(NEDMIBA) DYNC1I2 [HSA:1781] [KO:K10415]
(NEDMABA) SMPD4 [HSA:55627] [KO:K12353]
(NEDAHM) SVBP [HSA:374969] [KO:K23357]
(NEDMCMS) TMX2 [HSA:51075] [KO:K25112]
(NEDMEHM) MTHFS [HSA:10588] [KO:K01934]
(NMIHBA) PRUNE1 [HSA:58497] [KO:K01514]
(NEDHYMS) ADARB1 [HSA:104] [KO:K13194]
(NEDSEBA) EXOC7 [HSA:23265] [KO:K07195]
(NEDMISB) EXOC8 [HSA:149371] [KO:K19986]
(NEDSOSB) SEC31A [HSA:22872] [KO:K14005]
(NEDMSC) VPS50 [HSA:55610] [KO:K23288]
(NEDMHS) CPSF3 [HSA:51692] [KO:K14403]
(NEDMIMS) CHKA [HSA:1119] [KO:K14156]
(NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307]
(NEDMVIC) DOHH [HSA:83475] [KO:K06072]
(NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096]
(NEDMIM) TTI1 [HSA:9675] [KO:K20403]
(NEDGS) PCDHGC4 [HSA:56098] [KO:K16497]
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]
H02557 Dopa-responsive dystonia Dopa-responsive dystonia (DRD) encompasses a clinically and genetically heterogeneous group of disorders that typically manifest as limb-onset dystonia that fluctuates diurnally and improves with levodopa ... Nervous system disease (DYT5a) GCH1 [HSA:2643] [KO:K01495]
(DYT5b) TH [HSA:7054] [KO:K00501]
H02606 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ... recessive neuronal migration disorder. It has been reported that PAMDDFS is caused by mutations in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2). GCP2 is a core component of gamma-tubulin ring ... Congenital malformation TUBGCP2 [HSA:10844] [KO:K16569]
H02697 Long-Olsen-Distelmaier syndrome ... with hepatopathy and brain 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 ... Congenital malformation RRAGC [HSA:64121] [KO:K16186]
H02787 Mahvash disease ... and pancreatic alpha cell hyperplasia. It has been reported that biallelic inactivating mutations in GCGR gene cause this disease. GCGR encodes the glucagon receptor, a G-protein-coupled receptor expressed ... Endocrine and metabolic disease GCGR [HSA:2642] [KO:K04583]
41 to 64 of 64 Prev 1 2
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