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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00014 | Non-small cell lung cancer | ... apoptosis. The protein encoded by the p16INK4a inhibits formation of CDK-cyclin-D complexes by competitive binding of CDK4 and CDK6. Loss of p16INK4a expression is a common feature of NSCLC. RAR-beta is a nuclear ... | Cancer | hsa05223 Non-small cell lung cancer |
EML4-ALK (translocation) [HSA:238] [KO:K05119] CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088] KIF5B-RET (inversion) [HSA:5979] [KO:K05126] RARB (promoter hypermethylation) [HSA:5915] [KO:K08528] RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] KRAS [HSA:3845] [KO:K07827] EGFR [HSA:1956] [KO:K04361] FHIT [HSA:2272] [KO:K01522] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] MET [HSA:4233] [KO:K05099] BRAF [HSA:673] [KO:K04365] PIK3CA [HSA:5290] [KO:K00922] IRF1 [HSA:3659] [KO:K09444] PPP2R1B [HSA:5519] [KO:K03456] |
| H00036 | Osteosarcoma | ... humerus representing the three most common sites. Genomic amplification, especially of both the p53-binding MDM2 gene and the flanking SAS gene, plays an important role in the biology of these tumors. ... | 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] |
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| H00051 | Alveolar soft part sarcoma | ... translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TFE3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between chromosomes ... | Cancer | ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105] | |
| H00072 | Pyruvate dehydrogenase complex deficiency | ... dehydrogenase (E3), and two regulatory subunits, E1 kinase and phospho-E1-phosphatase, together with a sixth component, E3-binding protein, which is believed to play a role in the attachment of E3 to the E2 core. | Inherited metabolic disorder |
(PDHAD) PDHA1 [HSA:5160] [KO:K00161] (PDHBD) PDHB [HSA:5162] [KO:K00162] (PDHDD) DLAT [HSA:1737] [KO:K00627] (PDHPD) PDP1 [HSA:54704] [KO:K01102] (PDHXD) PDHX [HSA:8050] [KO:K13997] (DLDD) DLD [HSA:1738] [KO:K00382] |
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| H00101 | Other phagocyte defects | ... recurrent bacterial infections. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (C/EBP) epsilon. Myeloperoxidase deficiency is the most common inherited disorder of ... | Primary immunodeficiency | ||
| H00105 |
Mannose-binding lectin pathway component defects Lectin complement activation pathway, defect in (LCAPD) |
... aspartic acid with a glycine at position 105, a position in the first domain, CUB1, involved in calcium binding. This mutation abolishes the binding to MBL and ficolins, and deprives MASP-2 of functional activity | Primary immunodeficiency |
(LCAPD1) MBL2 [HSA:4153] [KO:K03991] (LCAPD2) MASP2 [HSA:10747] [KO:K03993] (LCAPD3) FCN3 [HSA:8547] [KO:K10104] |
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| H00106 | Complement regulatory protein defects | ... complement regulatory proteins (CRPs). They include C1 inhibitor (C1-INH, also termed SERPING1), C4 binding protein (C4BP), Factor I, decay accelerating factor (DAF), CD59, and so on. C1-INH (SERPING1) ... | 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] |
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| H00456 | Fronto-otopalatodigital syndromes | ... Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked fashion and characterized ... | Congenital malformation | FLNA [HSA:2316] [KO:K04437] | |
| H00560 | Pseudoxanthoma elasticum | ... affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes ... | Congenital malformation |
(PXE) ABCC6 [HSA:368] [KO:K05669] (PXE) XYLT1 [HSA:64131] [KO:K00771] (PXE) XYLT2 [HSA:64132] [KO:K00771] (PXE-like) GGCX [HSA:2677] [KO:K10106] |
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| H00630 | Rheumatoid arthritis | ... not very clear. It has been postulated that the presence of these conserved sequences in the antigen-binding groove alters the way antigenic peptides are bound to and presented to T-cell lymphocytes. This ... | Immune system disease | hsa05323 Rheumatoid arthritis |
HLA-DRB1 [HSA:3123] [KO:K06752] PTPN22 [HSA:26191] [KO:K18024] CIITA [HSA:4261] [KO:K08060] CD244 [HSA:51744] [KO:K06582] SLC22A4 [HSA:6583] [KO:K08202] IRF5 [HSA:3663] [KO:K09446] NFKBIL1 [HSA:4795] [KO:K09256] IL10 [HSA:3586] [KO:K05443] (JIA) IL6 [HSA:3569] [KO:K05405] (JIA) MIF [HSA:4282] [KO:K07253] |
| H00678 |
Achondrogenesis type IA Achondrogenesis, Houston-Harris type |
... growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by mutated TRIP11 encoding Golgi-associated microtubule-binding protein 210 in the Golgi apparatus. | Congenital malformation | TRIP11 [HSA:9321] [KO:K23368] | |
| H00704 | Oculopharyngeal muscular dystrophy | ... is caused by expansions of the short (GCG) trinucleotide repeat in the coding sequence of the poly(A) binding protein nuclear 1 (PABPN1) gene. To date OPMD is considered as a primary myopathic disorder and ... | Nervous system disease; Musculoskeletal disease |
(OPMD1) PABPN1 [HSA:8106] [KO:K14396] (OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158] |
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| H00733 | Harlequin ichthyosis | ... ectropion, and impaired contraction of ears and limbs. HI is associated with truncations/deletions in ABCA12, an ATP-binding cassette (ABC) transporters with lipid transporter activity in keratinocytes. | Congenital malformation | ABCA12 [HSA:26154] [KO:K05646] | |
| H00740 | Ichthyosis follicularis, alopecia, and photophobia syndrome | ... endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP syndrome. | Congenital malformation |
(IFAP1) MBTPS2 [HSA:51360] [KO:K07765] (IFAP2) SREBF1 [HSA:6720] [KO:K07197] |
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| H00936 |
Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen syndrome (GOSHS) |
Goldberg-Shprintzen megacolon syndrome is a rare disorder caused by inactivating mutations in the kinesin binding protein (KBP) and is characterized by central and enteric nervous system defects. Clinical features ... | Congenital malformation | KBP [HSA:26128] [KO:K23845] | |
| H01009 | Newfoundland rod-cone dystrophy | ... punctata albescens with a substantially lower age at onset and more-rapid and distinctive progression. Mutations in RLBP1 gene, encoding the cellular retinaldehyde-binding protein, are likely to cause NFRCD. | Nervous system disease | RLBP1 [HSA:6017] [KO:K19625] | |
| H01070 | Vibrio furnissii infection | ... gastroenteritis is potentially related to hemolysin production. A protein with multifaceted functions in solute binding, in in vitro hemolysis, in antibiotic resistance, and as a virulence factor in bacterial pathogenesis ... | Bacterial infectious disease | ||
| H01163 | Corticosteroid-binding globulin (CBG) deficiency | Corticosteroid-binding globulin (CBG) deficiency is a rare autosomal recessive disorder associated with hypotension and fatigue. CBG is the main transport protein for glucocorticoids in blood and only ... | Endocrine and metabolic disease | SERPINA6 [HSA:866] [KO:K04525] | |
| H01173 | Stiff skin syndrome | ... hypertrichosis, remarkable in the areas with abundant fascia on the thighs and buttocks. SSS is caused by mutations in the Arg-Gly-Asp (RGD) sequence-encoding domain of fibrillin-1 that mediates integrin binding. | Skin disease | FBN1 [HSA:2200] [KO:K06825] | |
| H01176 | Uncomplicated urinary tract infection | ... the virulence factors of S. aureus, such as coagulase, hemolysins, enterotoxins, extracellular matrixbinding proteins, and exoenzymes, are absent in the S. saprophyticus genome. Besides S. saprophyticus ... | Bacterial infectious disease | ||
| H01208 |
Globozoospermia Round-headed spermatozoa |
... spermatozoa that lack an acrosome. Acrosome plays an important role at the site of sperm-zona pellucida binding during the fertilization process. It was suggested that a homozygous mutation in SPATA16 was ... | Reproductive system disease |
(SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807] |
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| H01216 | Left ventricular noncompaction | ... failure, stroke and arrhythmia. It has been linked to mutations in several genes, including LIM domain binding protein 3 (ZASP), alpha-dystrobrevin (DTNA), and genes encoding the sarcomeric proteins, beta-myosin ... | Cardiovascular disease |
(LVNC1) DTNA [HSA:1837] [KO:K26998] (LVNC3) LDB3 [HSA:11155] [KO:K19867] (LVNC4) ACTC1 [HSA:70] [KO:K12314] (LVNC5) MYH7 [HSA:4625] [KO:K17751] (LVNC6) TNNT2 [HSA:7139] [KO:K12045] (LVNC7) MIB1 [HSA:57534] [KO:K10645] (LVNC8) PRDM16 [HSA:63976] [KO:K22410] (LVNC9) TPM1 [HSA:7168] [KO:K10373] (LVNC10) MYBPC3 [HSA:4607] [KO:K12568] |
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| H01218 | P14 deficiency | The deficiency of the late endosomal-lysosomal MEK binding partner 1 (MP1)-interacting protein (also known as p14 and MAPBPIP) causes a primary immunodeficiency syndrome comprising congenital neutropenia ... | Primary immunodeficiency | MAPBPIP [HSA:28956] [KO:K20398] | |
| H01243 | Huntington disease-like syndrome | ... So far, four genes associated with HDL syndromes have been identified, including the prion protein gene (HDL1), the junctophilin 3 gene (HDL2) and, the gene encoding the TATA box-binding protein (HDL4). | Neurodegenerative disease |
(HDL1) PRNP [HSA:5621] [KO:K05634] (HDL2) JPH3 [HSA:57338] [KO:K19530] (HDL4) TBP [HSA:6908] [KO:K03120] |
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| H01381 |
Antithrombin III deficiency Inherited Antithrombin deficiency |
... mutations that affect AT's reactive site. Type IIb is characterized by an abnormality of the heparin-binding domain. Type IIc variants are a pleiotropic group of mutations near the reactive loop site. | Hematologic disease | SERPINC1 [HSA:462] [KO:K03911] | |
| H01383 |
Hyperlipoproteinemia type IIa LDL receptor disorder |
... LDL receptor gene consists of a number of distinct functional domains such as signal sequence, ligand binding, and so on. There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia ... | Inherited metabolic disorder | LDLR [HSA:3949] [KO:K12473] | |
| H01423 | Penicillin-resistant Streptococcus pneumoniae infection | ... isolates of S. pneumoniae involves the alteration of penicillin target proteins, the so-called penicillin binding protein (PBPs), which cause reduced affinities and/or binding capacities for the antibiotic molecule | Bacterial infectious disease | ||
| H01579 |
Congenital symmetric circumferential skin creases Kunze-Riehm syndrome Michelin tire baby syndrome |
... or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule plus ends ... | Congenital malformation |
(CSCSC1) TUBB [HSA:203068] [KO:K07375] (CSCSC2) MAPRE2 [HSA:10982] [KO:K10436] |
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| H01784 | Primary hyperchylomicronemia | ... hyperchylomicronemia caused by mutations in the gene for glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) or lipase maturation factor 1 (LMF1) were found. By contrast, the more commonly ... | Inherited metabolic disorder |
LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001] LMF1 [HSA:64788] [KO:K23555] APOA5 [HSA:116519] [KO:K09025] |
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| H01844 | Diaphanospondylodysostosis | ... nephroblastomatosis, and/or cysts. It has been determined that DSD is due to mutations in the BMPER gene, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator. | Congenital malformation | BMPER [HSA:168667] [KO:K24517] | |
| H01895 | Attention deficit hyperactivity disorder (ADHD) | ... effect. Reports implicate variants of genes important for the synthesis, uptake, transport and receptor binding of dopamine in the etiology of ADHD. And interaction between the dopamine and serotonin systems ... | Mental and behavioural disorder |
(ADHD) DRD5 [HSA:1816] [KO:K05840] (ADHD) DRD4 [HSA:1815] [KO:K04147] (ADHD7) TPH2 [HSA:121278] [KO:K00502] (ADHD8) CDH2 [HSA:1000] [KO:K06736] |
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| H01913 | Renpenning syndrome | ... syndrome is a group of X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly, short stature ... | Congenital malformation | PQBP1 [HSA:10084] [KO:K12865] | |
| H01985 | Desmoplastic small round cell tumor | ... involves the EWSR1 and WT1 genes. EWSR1 encodes the EWS protein which is a member of the FET family of RNA-binding proteins, while WT1 encodes a zinc-finger transcription factor. Several transcriptional targets ... | Cancer |
EWSR1-WT1 (translocation) [HSA:7490] [KO:K09234] MET (mutation) [HSA:4233] [KO:K05099] PIK3CA (mutation) [HSA:5290] [KO:K00922] |
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| H02003 |
Pyruvate dehydrogenase E3-binding protein deficiency Lacticacidemia due to PDX1 deficiency |
... (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. E3 binding protein (E3BP, formerly Protein X) mediates association between the E2 core and the E3 enzyme ... | Inherited metabolic disorder | PDHX [HSA:8050] [KO:K13997] | |
| H02024 | Neutrophil specific granule deficiency | ... secondary granule proteins. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (CEBP) epsilon. Recently, loss-of-function mutations in SMARCD2 were identified from ... | Primary immunodeficiency |
(SGD1) CEBPE [HSA:1053] [KO:K10051] (SGD2) SMARCD2 [HSA:6603] [KO:K11650] |
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| H02067 | Boomerang dysplasia | ... diminished ossification, and a characteristic bowed and boomerang like aspect of the long tubular bones. BD is caused by mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. | Congenital malformation | FLNB [HSA:2317] [KO:K27392] | |
| H02291 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | ... and diminished serum retinol levels. A homozygous splice site variant in the gene encoding retinol binding protein (RBP4) has been identified. RBP4 is the carrier of retinol in human plasma and is involved ... | Nervous system disease | RBP4 [HSA:5950] [KO:K18271] | |
| H02349 |
Odontochondrodysplasia Goldblatt syndrome |
... has been shown that ODCD is caused by mutations in TRIP11 that encodes golgi-associated microtubule-binding protein (GMAP210). TRIP11 is essential for normal skeletal development and endochondral ossification | Congenital malformation |
(ODCD1) TRIP11 [HSA:9321] [KO:K23368] (ODCD2) MIA3 [HSA:375056] [KO:K23704] |
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| H02480 | Fontaine progeroid syndrome | ... bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding mitochondrial carrier protein, cause FPS. Formerly, FPS was separated into two syndromes, Gorlin-Chaudhry-Moss ... | Congenital malformation | SLC25A24 [HSA:29957] [KO:K14684] | |
| H02591 | Interleukin-18 binding protein deficiency | Interleukin-18 binding protein deficiency is caused by inborn errors in IL18BP, which encodes IL-18 binding protein (IL-18BP), resulting in fulminant viral hepatitis (FVH) by unleashing IL-18. IL-18BP ... | Immune system disease | IL18BP [HSA:10068] [KO:K25565] |
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