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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 hsa05202 Transcriptional misregulation in 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 (mutation) [HSA:4221] [KO:K14970]
DAXX (mutation) [HSA:1616] [KO:K02308]
ATRX (mutation) [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; amyloid beta (A4) protein (mutation) [HSA:351] [KO:K04520]
(AD2) APOE; apolipoprotein E (mutation) [HSA:348] [KO:K04524]
(AD3) PSEN1; presenilin 1 (mutation) [HSA:5663] [KO:K04505]
(AD4) PSEN2; presenilin 2 (mutation) [HSA:5664] [KO:K04522]
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 hsa04010 MAPK signaling pathway
hsa04141 Protein processing in endoplasmic reticulum
hsa04144 Endocytosis
hsa04310 Wnt signaling pathway
hsa04330 Notch signaling pathway
hsa04722 Neurotrophin signaling pathway
(Pick disease/ FTD/ PSNP1) MAPT [HSA:4137] [KO:K04380]
(Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505]
(UP-FTD) GRN [HSA:2896] [KO:K23879]
(IBMPFD) VCP [HSA:7415] [KO:K13525]
(FTD3) CHMP2B [HSA:25978] [KO:K12192]
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 disease; Urinary system disease CDC73 [HSA:79577] [KO:K15175]
MEN1 [HSA:4221] [KO:K14970]
CASR [HSA:846] [KO:K04612]
GCM2 [HSA:9247] [KO:K21598]
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 TNNT2 (mutation) [HSA:7139] [KO:K12045]
TTN (mutation) [HSA:7273] [KO:K12567]
DES (mutation) [HSA:1674] [KO:K07610]
SGCD (mutation) [HSA:6444] [KO:K12563]
MYBPC3 (mutation) [HSA:4607] [KO:K12568]
MYH7 (mutation) [HSA:4625] [KO:K17751]
ACTC1 (mutation) [HSA:70] [KO:K12314]
TPM1 (mutation) [HSA:7168] [KO:K10373]
LMNA (mutation) [HSA:4000] [KO:K12641]
DMD (mutation) [HSA:1756] [KO:K10366]
Tafazzin (mutation) [HSA:6901] [KO:K13511]
LDB3 (mutation) [HSA:11155] [KO:K19867]
ACTN2 (mutation) [HSA:88] [KO:K21073]
NEXN (mutation) [HSA:91624] [KO:K23918]
RBM20 (mutation) [HSA:282996] [KO:K24052]
SCN5A (mutation) [HSA:6331] [KO:K04838]
MYH6 (mutation) [HSA:4624] [KO:K17751]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
SDHA (mutation) [HSA:6389] [KO:K00234]
EYA4 (mutation) [HSA:2070] [KO:K17622]
CSRP3 (mutation) [HSA:8048] [KO:K09377]
TCAP (mutation) [HSA:8557] [KO:K19879]
ABCC9 (mutation) [HSA:10060] [KO:K05033]
PLN (mutation) [HSA:5350] [KO:K05852]
TMPO (mutation) [HSA:7112] [KO:K24031]
PSEN1 (mutation) [HSA:5663] [KO:K04505]
PSEN2 (mutation) [HSA:5664] [KO:K04522]
VCL (mutation) [HSA:7414] [KO:K05700]
FKTN (mutation) [HSA:2218] [KO:K19872]
TNNC1 (mutation) [HSA:7134] [KO:K05865]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
TAZ (mutation) [HSA:6901] [KO:K13511]
GATAD1 (mutation) [HSA:57798] [KO:K23407]
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752]
HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
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]
(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 hsa04310 Wnt signaling pathway
hsa04330 Notch signaling pathway
hsa04722 Neurotrophin signaling pathway
PSENEN [HSA:55851] [KO:K06170]
PSEN1 [HSA:5663] [KO:K04505]
NCSTN [HSA:23385] [KO:K06171]
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 ... Neurodegenerative disease; Developmental disorder hsa00970 Aminoacyl-tRNA biosynthesis
hsa03015 mRNA surveillance pathway
hsa03018 RNA degradation
(PCH1) VRK1 [HSA:7443] [KO:K08816]
(PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
(PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
(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]
H01102 Pituitary adenomas ... sporadically, although a subset occurs as component tumors of well-characterized familial cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and MEN1-like syndrome (MEN4). Endocrine and metabolic disease hsa05202 Transcriptional misregulation in cancer
hsa04012 ErbB signaling pathway
hsa04110 Cell cycle
hsa04210 Apoptosis
hsa04910 Insulin signaling pathway
(MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
(CNC) PRKAR1A [HSA:5573] [KO:K04739]
AIP [HSA:9049] [KO:K17767]
GPR101 [HSA:83550] [KO:K08423]
GNAS [HSA:2778] [KO:K04632]
USP8 [HSA:9101] [KO:K11839]
PIK3CA [HSA:5290] [KO:K00922]
DICER1 [HSA:23405] [KO:K11592]
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 [HSA:4221] [KO:K14970]
CDKN1B [HSA:1027] [KO:K06624]
PRKAR1A [HSA:5573] [KO:K04739]
AIP [HSA:9049] [KO:K17767]
GPR101 [HSA:83550] [KO:K08423]
GNAS [HSA:2778] [KO:K04632]
USP8 [HSA:9101] [KO:K11839]
PIK3CA [HSA:5290] [KO:K00922]
DICER1 [HSA:23405] [KO:K11592]
RASD1 [HSA:51655] [KO:K07843]
ARMC5 [HSA:79798] [KO:K22499]
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]
PRKAR1A [HSA:5573] [KO:K04739]
PDE11A [HSA:50940] [KO:K13298]
PDE8B [HSA:8622] [KO:K18437]
H01522 Zollinger-Ellison syndrome ... present in 25% of patients, and is more frequently in patients with sporadic ZES than in those with MEN1. In addition, the gastrinomas may be cancerous. The cancer can be spread to other parts of the body ... Endocrine and metabolic disease hsa04971 Gastric acid secretion 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 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 hsa04310 Wnt signaling pathway
hsa04340 Hedgehog signaling pathway
PTCH1 (mutation) [HSA:5727] [KO:K06225]
SUFU (mutation) [HSA:51684] [KO:K06229]
SMO (mutation) [HSA:6608] [KO:K06226]
Axin1 (mutation) [HSA:8312] [KO:K02157]
Axin2 (mutation) [HSA:8313] [KO:K04385]
APC (mutation) [HSA:324 10297] [KO:K02085]
CTNNB1 (mutation) [HSA:1499] [KO:K02105]
MYC (amplification) [HSA:4609] [KO:K04377]
OTX2 (amplification) [HSA:5015] [KO:K18490]
TP53 (mutation) [HSA:7157] [KO:K04451]
NF2 (mutation) [HSA:4771] [KO:K16684]
MEN1 (mutation) [HSA:4221] [KO:K14970]
hTERT (amplification) [HSA:7015] [KO:K11126]
MDM2 (amplification) [HSA:4193] [KO:K06643]
KDM6A (mutation) [HSA:7403] [KO:K11447]
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 diseases hsa04934 Cushing syndrome ARMC5 [HSA:79798] [KO:K22499]
MEN1 [HSA:4221] [KO:K14970]
FH [HSA:2271] [KO:K01679]
PDE11A [HSA:50940] [KO:K13298]
GNAS1 [HSA:2778] [KO:K04632]
APC [HSA:324] [KO:K02085]
MC2R [HSA:4158] [KO:K04200]
PRKACA [HSA:5566] [KO:K04345]
1 to 17 of 17

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