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Entry Name Description Category Pathway Gene
H00033 Adrenal carcinoma Adrenocortical carcinoma (ACC) is a rare endocrine malignancy defined by a heterogeneous clinical presentation, dismal prognosis, and lack of effective therapeutic regimens. The incidence of ACC ranges ... Cancer ACTH-R (deletion) [HSA:4158] [KO:K04200]
GNAI2 (mutation) [HSA:2771] [KO:K04630]
N-ras (mutation) [HSA:4893] [KO:K07828]
IGF II (overexpression) [HSA:3481] [KO:K13769]
p53 (LOH, mutation) [HSA:7157] [KO:K04451]
p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993]
MEN1 (LOH, mutation) [HSA:4221] [KO:K14970]
H00034 Carcinoid ... multiple endocrine neoplasia (MEN) syndrome, a rare familiar tumor syndrome in which mutations in the MEN1 gene are manifested. Recently, it has been shown that a majority (78%) of sporadic carcinoids display ... Cancer MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]
H00045 Pancreatic neuroendocrine tumor ... sporadically or in association with a genetic syndrome, such as multiple endocrine neoplasia type 1 (MEN1), Von Hippel-Landau (VHL) syndrome, neurofibromatosis type 1, or tuberous sclerosis. The most frequent ... Cancer MEN1 [HSA:4221] [KO:K14970]
DAXX [HSA:1616] [KO:K02308]
ATRX [HSA:546] [KO:K10779]
H00056 Alzheimer disease
Dementia due to Alzheimer disease 		Alzheimer disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta ... Neurodegenerative disease hsa05010 Alzheimer disease (AD1) APP [HSA:351] [KO:K04520]
(AD2) APOE [HSA:348] [KO:K04524]
(AD3) PSEN1 [HSA:5663] [KO:K04505]
(AD4) PSEN2 [HSA:5664] [KO:K04522]
(AD9) ABCA7 [HSA:10347] [KO:K05645]
(AD17) TREM2 [HSA:54209] [KO:K14378]
(AD18) ADAM10 [HSA:102] [KO:K06704]
H00078 Frontotemporal lobar degeneration Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated ... Neurodegenerative disease (Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380]
(Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505]
(FTLDU) GRN [HSA:2896] [KO:K23879]
H00246 Primary hyperparathyroidism
Familial hyperparathyroidism 		... caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene. Endocrine and metabolic disease (HRPT1/2) CDC73 [HSA:79577] [KO:K15175]
(NSHPT) CASR [HSA:846] [KO:K04612]
(HRPT4) GCM2 [HSA:9247] [KO:K21598]
MEN1 [HSA:4221] [KO:K14970]
H00247 Multiple endocrine neoplasia syndrome
Wermer syndrome
Sipple syndrome 		... occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid ... Cancer (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00294 Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death ... Cardiovascular disease hsa05414 Dilated cardiomyopathy (CMD1A/DCM-HH) LMNA [HSA:4000] [KO:K12641]
(CMD1C/CMD2L) LDB3 [HSA:11155] [KO:K19867]
(CMD1D) TNNT2 [HSA:7139] [KO:K12045]
(CMD1E) SCN5A [HSA:6331] [KO:K04838]
(CMD1G) TTN [HSA:7273] [KO:K12567]
(CMD1I) DES [HSA:1674] [KO:K07610]
(CMD1J) EYA4 [HSA:2070] [KO:K17622]
(CMD1L) SGCD [HSA:6444] [KO:K12563]
(CMD1M) CSRP3 [HSA:8048] [KO:K09377]
(CMD1N) TCAP [HSA:8557] [KO:K19879]
(CMD1O) ABCC9 [HSA:10060] [KO:K05033]
(CMD1P) PLN [HSA:5350] [KO:K05852]
(CMD1R) ACTC1 [HSA:70] [KO:K12314]
(CMD1S) MYH7 [HSA:4625] [KO:K17751]
(CMD1U) PSEN1 [HSA:5663] [KO:K04505]
(CMD1V) PSEN2 [HSA:5664] [KO:K04522]
(CMD1W) VCL [HSA:7414] [KO:K05700]
(CMD1X) FKTN [HSA:2218] [KO:K19872]
(CMD1Y) TPM1 [HSA:7168] [KO:K10373]
(CMD1Z) TNNC1 [HSA:7134] [KO:K05865]
(CMD1AA) ACTN2 [HSA:88] [KO:K21073]
(CMD1BB) DSG2 [HSA:1829] [KO:K07597]
(CMD1CC) NEXN [HSA:91624] [KO:K23918]
(CMD1DD) RBM20 [HSA:282996] [KO:K24052]
(CMD1EE) MYH6 [HSA:4624] [KO:K17751]
(CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044]
(CMD1GG) SDHA [HSA:6389] [KO:K00234]
(CMD1HH) BAG3 [HSA:9531] [KO:K09557]
(CMD1II) CRYAB [HSA:1410] [KO:K09542]
(CMD1JJ) LAMA4 [HSA:3910] [KO:K06241]
(CMD1KK) MYPN [HSA:84665] [KO:K22028]
(CMD1LL) PRDM16 [HSA:63976] [KO:K22410]
(CMD1MM) MYBPC3 [HSA:4607] [KO:K12568]
(CMD1NN) RAF1 [HSA:5894] [KO:K04366]
(CMD1OO) VEZF1 [HSA:7716] [KO:K26610]
(CMD2B) GATAD1 [HSA:57798] [KO:K23407]
(CMD2C) PPCS [HSA:79717] [KO:K01922]
(CMD2D) RPL3L [HSA:6123] [KO:K02925]
(CMD2E) JPH2 [HSA:57158] [KO:K19530]
(CMD2F) BAG5 [HSA:9529] [KO:K09559]
(CMD2G) LMOD2 [HSA:442721] [KO:K22030]
(CMD2H) GET3 [HSA:439] [KO:K01551]
(CMD2I) CAP2 [HSA:10486] [KO:K17261]
(CMD2J) FLII [HSA:2314] [KO:K27496]
(CMD2K) MYZAP [HSA:100820829] [KO:K22031]
(CMD3B) DMD [HSA:1756] [KO:K10366]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DPA1 [HSA:3113] [KO:K06752]
HLA-DPB1 [HSA:3115] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
H00512 Permanent neonatal diabetes mellitus Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient ... Endocrine and metabolic disease (PNDM1) GCK [HSA:2645] [KO:K12407]
(PNDM2) KCNJ11 [HSA:3767] [KO:K05004]
(PNDM3) ABCC8 [HSA:6833] [KO:K05032]
(PNDM4) INS [HSA:3630] [KO:K04526]
(PAGEN1) PDX1 [HSA:3651] [KO:K07594]
(PACA) PTF1A [HSA:256297] [KO:K09073]
(IPEX) FOXP3 [HSA:50943] [KO:K10163]
(NDH) GLIS3 [HSA:169792] [KO:K09232]
H00649 Ectodermal dysplasia, hair-nail type Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously ... Congenital malformation (ECTD4) KRT85 [HSA:3891] [KO:K07605]
(ECTD7) KRT74 [HSA:121391] [KO:K07605]
(ECTD9) HOXC13 [HSA:3229] [KO:K09298]
(ECTD10A/10B) EDAR [HSA:10913] [KO:K05162]
(ECTD13) KREMEN1 [HSA:83999] [KO:K23091]
H00681 Acne inversa
Hidradenitis suppurativa 		Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic inflammatory disorder of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include ... Skin disease (ACNINV1) NCSTN [HSA:23385] [KO:K06171]
(ACNINV2) PSENEN [HSA:55851] [KO:K06170]
(ACNINV3) PSEN1 [HSA:5663] [KO:K04505]
H00861 Pancreatic agenesis Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter ... Digestive system disease (PAGEN1) PDX1 [HSA:3651] [KO:K07594]
(PAGEN2) PTF1A [HSA:256297] [KO:K09073]
(PAGEN3) ZNF808 [HSA:388558] [KO:K27999]
H00897 Pontocerebellar hypoplasia Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics ... Congenital malformation (PCH1A) VRK1 [HSA:7443] [KO:K08816]
(PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
(PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
(PCH1D) EXOSC9 [HSA:5393] [KO:K03678]
(PCH1E) SLC25A46 [HSA:91137] [KO:K03454]
(PCH1F) EXOSC1 [HSA:51013] [KO:K07573]
(PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326]
(PCH2B) TSEN2 [HSA:80746] [KO:K15322]
(PCH2C) TSEN34 [HSA:79042] [KO:K15323]
(PCH2D) SEPSECS [HSA:51091] [KO:K03341]
(PCH2E) VPS53 [HSA:55275] [KO:K20299]
(PCH2F) TSEN15 [HSA:116461] [KO:K15324]
(PCH3) PCLO [HSA:27445] [KO:K16882]
(PCH6) RARS2 [HSA:57038] [KO:K01887]
(PCH7) TOE1 [HSA:114034] [KO:K13202]
(PCH8) CHMP1A [HSA:5119] [KO:K12197]
(PCH9) AMPD2 [HSA:271] [KO:K01490]
(PCH10) CLP1 [HSA:10978] [KO:K14399]
(PCH11) TBC1D23 [HSA:55773] [KO:K22555]
(PCH12) COASY [HSA:80347] [KO:K02318]
(PCH13) VPS51 [HSA:738] [KO:K20296]
(PCH14) PPIL1 [HSA:51645] [KO:K12733]
(PCH15) CDC40 [HSA:51362] [KO:K12816]
(PCH16) MINPP1 [HSA:9562] [KO:K03103]
(PCH17) PRDM13 [HSA:59336] [KO:K24645]
H01102 Pituitary adenomas Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial ... Neoplasm (PITA1) AIP [HSA:9049] [KO:K17767]
(PITA2) GPR101 [HSA:83550] [KO:K08423]
(PITA3) GNAS [HSA:2778] [KO:K04632]
(PITA4) USP8 [HSA:9101] [KO:K11839]
(PITA5) CDH23 [HSA:64072] [KO:K06813]
(MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
(CNC) PRKAR1A [HSA:5573] [KO:K04739]
RASD1 [HSA:51655] [KO:K07843]
H01431 Cushing syndrome ... protease 8 gene (USP8) were identified in almost half of corticotroph adenoma. Germline mutations in MEN1 (encoding menin), AIP (encoding aryl-hydrocarbon receptor-interacting protein), PRKAR1A (encoding ... Endocrine and metabolic disease hsa04934 Cushing syndrome (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
(CNC1) PRKAR1A [HSA:5573] [KO:K04739]
(PITA1) AIP [HSA:9049] [KO:K17767]
(PITA2) GPR101 [HSA:83550] [KO:K08423]
(PITA3) GNAS [HSA:2778] [KO:K04632]
(PITA4) USP8 [HSA:9101] [KO:K11839]
(PITA5) CDH23 [HSA:64072] [KO:K06813]
(AIMAH2) ARMC5 [HSA:79798] [KO:K22499]
(PPNAD1) PRKAR1A [HSA:5573] [KO:K04739]
(PPNAD2) PDE11A [HSA:50940] [KO:K13298]
(PPNAD3) PDE8B [HSA:8622] [KO:K18437]
(PPNAD4) PRKACA [HSA:5566] [KO:K04345]
RASD1 [HSA:51655] [KO:K07843]
H01522 Zollinger-Ellison syndrome ... 20 percent are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1) [DS:H00247]. The clinical presentation is not specific for this disease and there is overlap of ... Endocrine and metabolic disease MEN1 [HSA:4221] [KO:K14970]
H01618 Pituitary gigantism ... exceptional but occasionally occurs in patients with multiple endocrine neoplasia syndrome type 1 (MEN1), Carney complex, or McCune-Albright syndrome. The clinical manifestations may include increased ... Endocrine and metabolic disease GPR101 (duplication) [HSA:83550] [KO:K08423]
H01667 Medulloblastoma Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently ... Cancer PTCH1 [HSA:5727] [KO:K06225]
PTCH2 [HSA:8643] [KO:K11101]
ELP1 [HSA:8518] [KO:K11373]
SUFU [HSA:51684] [KO:K06229]
SMO [HSA:6608] [KO:K06226]
AXIN1 [HSA:8312] [KO:K02157]
AXIN2 [HSA:8313] [KO:K04385]
APC [HSA:324 10297] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
NF2 [HSA:4771] [KO:K16684]
MEN1 [HSA:4221] [KO:K14970]
KDM6A [HSA:7403] [KO:K11447]
MYC (amplification) [HSA:4609] [KO:K04377]
OTX2 (amplification) [HSA:5015] [KO:K18490]
TERT (amplification) [HSA:7015] [KO:K11126]
MDM2 (amplification) [HSA:4193] [KO:K06643]
H02049 Bilateral macronodular adrenal hyperplasia ... causing a hereditary familial tumor syndrome including adenomatous polyposis coli gene (APC), menin (MEN1) and fumarate hydratase (FH) can favor or be responsible for the development of BMAH. Recently, a ... Endocrine and metabolic disease (AIMAH1) GNAS [HSA:2778] [KO:K04632]
(AIMAH2) ARMC5 [HSA:79798] [KO:K22499]
(AIMAH3) KDM1A [HSA:23028] [KO:K11450]
MEN1 [HSA:4221] [KO:K14970]
FH [HSA:2271] [KO:K01679]
PDE11A [HSA:50940] [KO:K13298]
APC [HSA:324] [KO:K02085]
MC2R [HSA:4158] [KO:K04200]
PRKACA [HSA:5566] [KO:K04345]
H02786 ENDOVE syndrome ... syndactyly and ventral nails. Homozygous non-coding deletions located upstream of the engrailed-1 gene (EN1) have been identified in patients. EN1 is a gene critical for dorsal-ventral patterning in the limb ... Congenital malformation EN1 [HSA:2019] [KO:K09319]
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