Search Result

 Top
1 to 40 of 565 1 2 3 4 5 6 ... 15 Next
Entry Name Description Category Pathway Gene
H00001 B-cell acute lymphoblastic leukemia
B-cell acute lymphocytic leukemia 		... either B- and T-cell lymphoblastic leukemia/lymphoma (B-ALL and T-ALL). In the case of B-ALL, numerous reports have demonstrated that recurring genetic abnormalities are associated with sufficiently unique ... Cancer BCR-ABL (translocation) [HSA:25] [KO:K06619]
MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184]
E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355]
TEL-AML1 (translocation) [HSA:861] [KO:K08367]
c-MYC (rearrangement) [HSA:4609] [KO:K04377]
CRLF2 (rearrangement) [HSA:64109] [KO:K05078]
PAX5 (rearrangement) [HSA:5079] [KO:K09383]
H00006 Hairy cell leukemia ... pathogenetic importance in HCL, only a few have been described. Mutations of p53 and Bcl-6 have been reported in about one-third of cases, but their functional significance is unclear. Over-expression of ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
Bcl-6 (mutation) [HSA:604] [KO:K15618]
Cyclin D1 (overexpression) [HSA:595] [KO:K04503]
H00009 Adult T-cell leukemia ... multistep leukemogenesis. Regarding genetic changes, mutation of p53, and deletion of p16 have been reported in ATL. Mutations of Fas gene are also reported in patients with ATL cells. However, such genetic ... Cancer; Viral infectious disease hsa05166 Human T-cell leukemia virus 1 infection p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621]
Fas (mutation) [HSA:355] [KO:K04390]
H00033 Adrenal carcinoma ... incidence of ACC ranges from 0.5 to 2 cases per million people per year, accounting for 0.02% of all reported cancers. Unfortunately, most patients present with metastatic disease which reduces the 5 year ... 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 ... normally and diffusely present in this location. Most carcinoids are sporadic but epidemiological studies report a familial risk. Moreover, carcinoids can occur within the multiple endocrine neoplasia (MEN) syndrome ... Cancer MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]
H00036 Osteosarcoma ... MDM2 gene and the flanking SAS gene, plays an important role in the biology of these tumors. Alterations of Rb1 and c-myc are also common, and mutations have been reported in p53, p16INK4A, and CDKN2B. Cancer MDM2 (amplification) [HSA:4193] [KO:K06643]
TSPAN31 (amplification) [HSA:6302] [KO:K17356]
MYC (amplification) [HSA:4609] [KO:K04377]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
CDKN2A [HSA:1029] [KO:K06621]
CDKN2B [HSA:1030] [KO:K04685]
CHEK2 [HSA:11200] [KO:K06641]
H00040 Squamous cell carcinoma ... described in actinic keratoses, in situ SCC, and invasive SCC with UV signature lesions common, and a reported mutation rate as high as 45%. As with TP53, UV-induced mutations in HRAS and KRAS have also been ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
H-ras (mutation) [HSA:3265] [KO:K02833]
K-ras (mutation) [HSA:3845] [KO:K07827]
H00046 Cholangiocarcinoma ... genes. These genetic alterations are associated with a more aggressive phenotype in this cancer. Many reports have implicated overexpression of the tyrosine kinase proto-oncogenes c-erbB-2 (HER-2/neu) and ... Cancer K-ras (mutation) [HSA:3845] [KO:K07827]
p53 (mutation) [HSA:7157] [KO:K04451]
c-Met (overexpression) [HSA:4233] [KO:K05099]
ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
COX2 (overexpression) [HSA:5743] [KO:K11987]
H00050 Synovial sarcoma ... nodes and bone marrow. A specific translocation, t(X; 18)(p11.2; q11.2), is found in more than 90% of reported synovial sarcoma, including biphasic, monophasic, and poorly differentiated tumors. The breakpoints ... Cancer SYT-SSX1 (translocation) [HSA:6756] [KO:K15624]
SYT-SSX2 (translocation) [HSA:6757] [KO:K15625]
IGF-IR (overexpression) [HSA:3480] [KO:K05087]
H00055 Laryngeal cancer ... is less well characterized. Cyclin D1 and epidermal growth factor receptor amplification have been reported in one-third and one-quarter of LSCCs, respectively, both related to advanced stages, whereas ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621]
Cyclin D1 (amplification) [HSA:595] [KO:K04503]
EGFR (amplification) [HSA:1956] [KO:K04361]
c-MYC (amplification) [HSA:4609] [KO:K04377]
Cyclin E (amplification) [HSA:898 9134] [KO:K06626]
H00080 Systemic lupus erythematosus ... Neutrophils and macrophages cause tissue injury by the release of oxidants and proteases. It has been reported that there is a relatively high genetic component behind SLE. The data of family-based studies ... Immune system disease hsa05322 Systemic lupus erythematosus (SLE) PTPN22 [HSA:26191] [KO:K18024]
(SLE) FCGR2A [HSA:2212] [KO:K06472]
(SLE) FCGR2B [HSA:2213] [KO:K12560]
(SLE) CTLA4 [HSA:1493] [KO:K06538]
(SLE) TREX1 [HSA:11277] [KO:K10790]
(SLE) DNASE1 [HSA:1773] [KO:K11994]
(SLEB1) TLR5 [HSA:7100] [KO:K10168]
(SLEB2) PDCD1 [HSA:5133] [KO:K06744]
(SLEB9) CR2 [HSA:1380] [KO:K04012]
(SLEB10) IRF5 [HSA:3663] [KO:K09446]
(SLEB11) STAT4 [HSA:6775] [KO:K11222]
(SLEB16) DNASE1L3 [HSA:1776] [KO:K11995]
(SLEB17) TLR7 [HSA:51284] [KO:K05404]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
C2 [HSA:717] [KO:K01332]
C4A [HSA:720] [KO:K03989]
TNF [HSA:7124] [KO:K03156]
FCGR3A [HSA:2214] [KO:K06463]
FCGR3B [HSA:2215] [KO:K06463]
CRP [HSA:1401] [KO:K16143]
ZNF423 [HSA:23090] [KO:K22870]
H00085 Agammaglobulinemias ... surrogate light chain with Vpre-B. A small number of patients with defects in BLNK, a scaffold protein that assembles signal transduction molecules activated by cross-linking of the BCR, have been reported. Immune system disease (AGMX1) BTK [HSA:695] [KO:K07370]
(AGMX2) SH3KBP1 [HSA:30011] [KO:K12470]
(AGM2) IGLL1 [HSA:3543] [KO:K06554]
(AGM3) CD79A [HSA:973] [KO:K06506]
(AGM4) BLNK [HSA:29760] [KO:K07371]
(AGM5) LRRC8A [HSA:56262] [KO:K22038]
(AGM6) CD79B [HSA:974] [KO:K06507]
(AGM7) PIK3R1 [HSA:5295] [KO:K02649]
(AGM8A/8B) TCF3 [HSA:6929] [KO:K09063]
(AGM9) SLC39A7 [HSA:7922] [KO:K14713]
(AGM10) SPI1 [HSA:6688] [KO:K09438]
H00091 T-B+Severe combined immunodeficiency ... defects in key proteins involved in pre-TCR/TCR signaling. Deficiency in the CD45 phosphatase has been reported in two cases of SCID, while defects in CD3 delta, CD3 epsilon and CD3 zeta have also been described Primary immunodeficiency IL2RG [HSA:3561] [KO:K05070]
JAK3 [HSA:3718] [KO:K11218]
IL7R [HSA:3575] [KO:K05072]
PTPRC [HSA:5788] [KO:K06478]
CD3D [HSA:915] [KO:K06450]
CD3E [HSA:916] [KO:K06451]
CD247 [HSA:919] [KO:K06453]
CORO1A [HSA:11151] [KO:K13882]
BCL11B [HSA:64919] [KO:K22046]
H00096 Defects of toll-like receptor signaling ... pyogenic encapsulated bacteria, principally, but not exclusively Gram-positive. Recently, other monogenic defects of toll-like receptor signaling that cause severe immunodeficiency have been reported. Primary immunodeficiency (IMD67) IRAK4 [HSA:51135] [KO:K04733]
(IMD39) IRF7 [HSA:3665] [KO:K09447]
(IMD74) TLR7 [HSA:51284] [KO:K05404]
(IMD98) TLR8 [HSA:51311] [KO:K10170]
H00100 Neutropenic disorders ... in ELA-2/ELANE were discovered. Patients with X-linked severe congenital neutropenia (SCN) have been reported with activating mutations in Wiskott-Aldrich syndrome protein (WASp) leading to a constitutively-active ... Primary immunodeficiency (SCN1) ELANE [HSA:1991] [KO:K01327]
(SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223]
(SCN3) HAX1 [HSA:10456] [KO:K16220]
(SCN4) G6PC3 [HSA:92579] [KO:K01084]
(SCN5) VPS45 [HSA:11311] [KO:K12479]
(SCN6) JAGN1 [HSA:84522] [KO:K25789]
(SCN7) CSF3R [HSA:1441] [KO:K05061]
(SCN8) SRP54 [HSA:6729] [KO:K03106]
(SCN9) CLPB [HSA:81570] [KO:K03695]
(SCN10) SRP68 [HSA:6730] [KO:K03107]
(SCN11) SEC61A1 [HSA:29927] [KO:K10956]
(SCNX) WAS [HSA:7454] [KO:K05747]
H00101 Other phagocyte defects ... skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations throughout the CHS1/LYST gene. Griscelli syndrome (GS) is a rare ... Primary immunodeficiency
H00106 Complement regulatory protein defects ... layers, identified as angioedema (hereditary or acquired). Genetic deficiency of C4BP has only been reported in one individual who developed an illness with similarities to Behcet's syndrome. Heterozygous ... Primary immunodeficiency SERPING1 [HSA:710] [KO:K04001]
C4BPA [HSA:722] [KO:K04002]
C4BPB [HSA:725] [KO:K04003]
CFI [HSA:3426] [KO:K01333]
CD55 [HSA:1604] [KO:K04006]
CD59 [HSA:966] [KO:K04008]
H00125 Fabry disease
Anderson-Fabry disease 		... to many X-linked diseases, female heterozygotes cannot be considered merely carriers of the mutation. All of the signs and symptoms found in males with Fabry disease also have been reported in females. Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
H00157 Hyperlipoproteinemia, type V ... disorder characterized by an increase of chylomicrons and VLDL and a decrease of LDL and HDL in the plasma after a fast. It has been reported that mutations in APOA5 cause type V hyperlipoproteinemia. Inherited metabolic disorder APOA5 [HSA:116519] [KO:K09025]
H00204 Heimler syndrome ... amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6. ... Inherited metabolic disorder, Peroxisomal disease (HMLR1) PEX1 [HSA:5189] [KO:K13338]
(HMLR2) PEX6 [HSA:5190] [KO:K13339]
H00227 Congenital amegakaryocytic thrombocytopenia ... expression or function of the thrombopoietin (THPO) receptor caused by mutations in the MPL gene. Recently, it has been reported that recessive mutations in the THPO gene are a novel cause of this disease. Hematologic disease (CAMT1) MPL [HSA:4352] [KO:K05082]
(CAMT2) THPO [HSA:7066] [KO:K06854]
H00236 Congenital polycythemia
Familial erythrocytosis (ECYT) 		Congenital polycythemia or familial erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia ... Hematologic disease (ECYT1) EPOR [HSA:2057] [KO:K05079]
(ECYT1) JAK2 [HSA:3717] [KO:K04447]
(ECYT1) SH2B3 [HSA:10019] [KO:K12459]
(ECYT2) VHL [HSA:7428] [KO:K03871]
(ECYT3) EGLN1 [HSA:54583] [KO:K09592]
(ECYT4) EPAS1 [HSA:2034] [KO:K09095]
(ECYT5) EPO [HSA:2056] [KO:K05437]
(ECYT6) HBB [HSA:3043] [KO:K13823]
(ECYT7) HBA1/2 [HSA:3039 3040] [KO:K13822]
(ECYT8) BPGM [HSA:669] [KO:K01837]
H00256 Familial glucocorticoid deficiency ... life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that FGD is caused by mutation of the ACTH receptor (MC2R) and the accessory protein (MRAP). Endocrine and metabolic disease (FGD1) MC2R [HSA:4158] [KO:K04200]
(FGD2) MRAP [HSA:56246] [KO:K22398]
(FGD4) NNT [HSA:23530] [KO:K00323]
(FGD5) TXNRD2 [HSA:10587] [KO:K22182]
H00257 Achalasia Addisonianism Alacrima syndrome
Triple A syndrome
Allgrove syndrome 		... insufficiency and autonomic instability caused by mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that ... Endocrine and metabolic disease (AAA) AAAS [HSA:8086] [KO:K14320]
(AAMR) GMPPA [HSA:29926] [KO:K00966]
H00288 Familial Mediterranean fever
Familial hereditary periodic fever syndromes 		... prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an autosomal recessive disorder caused by missense ... Immune system disease MEFV [HSA:4210] [KO:K12803]
H00291 Familial chilblain lupus (FCL)
Chilblain lupus erythematosus (CHLE) 		... in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus have been reported. First symptoms manifest in early childhood, developing hypergammaglobulinemia and rheumatoid ... Immune system disease (CHBL1) TREX1 [HSA:11277] [KO:K10790]
(CHBL2) SAMHD1 [HSA:25939] [KO:K22544]
H00295 Viral myocarditis ... cardiomyopathy (DCM). Genetic linkage between susceptibility to myocarditis/DCM and the major histocompatibility complex (MHC) genes has been reported in both humans and experimentally induced mouse models. Cardiovascular disease hsa05416 Viral myocarditis
H00303 Serratia infection ... bacilli of the Enterobacteriaceae that cause hospital-acquired infection. Numerous outbreaks have been reported in association with medical devices and neonatal intensive care unit. S. marcescens strains that ... Bacterial infectious disease
H00321 Campylobacter infection
Campylobacteriosis 		... zoonoses. The transmission occurs via the fecal-oral route through ingestion of contaminated food and water. Serious sequelae of Campylobacter infection are reported, including Guillain-Barre syndrome. Bacterial infectious disease
H00345 Nocardiosis ... bacterial infection that affects mainly patients with deficient cell-mediated immunity. It has been reported worldwide in all ages and ethnic groups. Pulmonary disease is the most common clinical presentation ... Bacterial infectious disease
H00374 Viral wart ... acuminatum, Bowenoid papulosis, epidermodysplasia verruciformis, and laryngeal papillomas. Other lesions reported to be HPV-associated are squamous papilloma, verruca vulgaris, warty lip lesions, and conjunctival ... Viral infectious disease
H00381 Dengue ... serotypes of DENV are known causing dengue fever and life-threatening dengue hemorrhagic fever. Dengue is a very old disease with a report of dengue-like illness in China as early as the third century. Viral infectious disease
H00420 Familial partial lipodystrophy ... three genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown. Recently, novel autosomal recessive causes of partial lipodystrophy were reported. Inherited metabolic disorder (FPLD2) LMNA [HSA:4000] [KO:K12641]
(FPLD3) PPARG [HSA:5468] [KO:K08530]
(FPLD4) PLIN1 [HSA:5346] [KO:K08768]
(FPLD5) CIDEC [HSA:63924] [KO:K25878]
(FPLD6) LIPE [HSA:3991] [KO:K07188]
(FPLD7) CAV1 [HSA:857] [KO:K06278]
(FPLD8) ADRA2A [HSA:150] [KO:K04138]
(FPLD9) PLAAT3 [HSA:11145] [KO:K16817]
(APLD) LMNB2 [HSA:84823] [KO:K07611]
AKT2 [HSA:208] [KO:K04456]
H00442 Campomelic dysplasia ... congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency of SOX9 gene has been reported. Congenital malformation SOX9 [HSA:6662] [KO:K18435]
H00443 Osteoglophonic dysplasia
Osteoglophonic dwarfism 		Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported. Congenital malformation FGFR1 [HSA:2260] [KO:K04362]
H00457 Primary hypertrophic osteoarthropathy ... clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene and SLCO2A1 gene, which encodes 15-hydroxyprostaglandin dehydrogenase and prostaglandin transporter, were reported. Musculoskeletal disease HPGD [HSA:3248] [KO:K00069]
SLCO2A1 [HSA:6578] [KO:K14345]
H00467 Fibular hypoplasia and complex brachydactyly
Du Pan syndrome
Acromesomelic dysplasia 2B 		... (DuPan syndrome), inherited as an autosomal recessive trait, is characterized by fibula aplasia and severe limb shortening. Affected individuals were reported to be homozygous for a GDF5 missense mutation. Congenital malformation GDF5 [HSA:8200] [KO:K04664]
H00472 Torg syndrome
Torg-Winchester syndrome
Multicentric osteolysis, nodulosis, and arthropathy 		... nodulosis, and arthropathy (MONA) is a multicentric osteolysis syndrome characterized by progressive bone loss in hands and feet. MMP2 mutations are reported in patients with Torg-Winchester syndrome. Musculoskeletal disease MMP2 [HSA:4313] [KO:K01398]
H00478 Prader-Willi syndrome ... chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally, it has been reported that MECP2 deficiency leads to decreased expression of UBE3A. PWS and AS have characteristic ... Chromosomal abnormality NDN [HSA:4692] [KO:K19482]
SNRPN [HSA:6638] [KO:K11100]
NPAP1 [HSA:23742] [KO:K26564]
H00490 Diaphyseal dysplasia with anemia
Ghosal hematodiaphyseal dysplasia 		Diaphyseal dysplasia with anemia (Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1, which encodes thromboxane synthase, has been reported. Congenital malformation TBXAS1 [HSA:6916] [KO:K01832]
1 to 40 of 565 1 2 3 4 5 6 ... 15 Next
[ KEGG | DISEASE | DRUG | MEDICUS ]