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Entry Name Description Category Pathway Gene
H00011 Lymphoplasmacytic lymphoma ... The t(9;14)(p13;q32) is present in near 50% of cases of LPL. This chromosomal translocation involves a junction between 9p13 and the switch micro region of the Ig heavy chain locus on 14q32. The 9p13 breakpoint ... Cancer hsa05202 Transcriptional misregulation in cancer Pax5-IgH (translocation) [HSA:5079] [KO:K09383]
H00047 Gallbladder cancer ... second, less frequent pathway is associated with a congenital abnormality of the pancreatic bile-duct junction, which is particularly common in Japan. TP53 inactivation has an important and early role in ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
K-ras (mutation) [HSA:3845] [KO:K07827]
APC (mutation) [HSA:324] [KO:K02085]
H00081 Hashimoto thyroiditis ... are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility ... Immune system disease hsa05320 Autoimmune thyroid disease HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
CTLA-4 (polymorphism) [HSA:1493] [KO:K06538]
H00082 Graves disease ... are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility ... Immune system disease hsa05320 Autoimmune thyroid disease HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
CTLA-4 (polymorphism) [HSA:1493] [KO:K06538]
H00170 Piebaldism Piebaldism is caused by mutation of kit proto-oncogene, or snail 2 transcription factor, implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital ... Inherited metabolic disease; Skin and connective tissue disease hsa04916 Melanogenesis
hsa04520 Adherens junction
KIT [HSA:3815] [KO:K05091]
SNAI2 [HSA:6591] [KO:K05706]
H00233 MYH9-related disease The autosomal dominant disorders, which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of ... Cardiovascular disease hsa04530 Tight junction
hsa04810 Regulation of actin cytoskeleton
MYH9 [HSA:4627] [KO:K10352]
H00301 Klebsiella infection ... bacilli containing these plasmids are multidrug-resistant. Klebsiella pneumoniae can cause sepsis, conjunctivitis, urinary tract infections, and surgical site infections. Bloodstream infections with Klebsiella ... Infectious disease
H00304 Haemophilus influenzae infection ... cellulitis, osteomyelitis, and epiglottitis. Mucosal infections, such as bronchitis, sinusitis and conjunctivitis, and otitis media, can also be caused by Hib, but they are considered to be noninvasive disease Infectious disease
H00321 Campylobacter infection
Campylobacteriosis
Campylobacter infection is a diarrhoeal disease most commonly caused by Campylobacter jejuni. Less commonly, C. jejuni infection also causes bacteremia, septic arthritis, and other extraintestinal manifestations ... Infectious disease
H00349 Trachoma ... worldwide. Infections with serovars A, B, Ba, and C of Chlamydia trachomatis cause chronic keratoconjunctivitis in children with subsequent scarring and blindness in adults. Today, trachoma is largely ... Infectious disease
H00371 Adenovirus infection ... recruits, and immunocompromised individuals, Ad infections often result in disseminated and potentially life-threatening disease. Ocular Ad infections are among the leading causes of viral conjunctivitis. Infectious disease
H00374 Viral wart ... papulosis, epidermodysplasia verruciformis, and laryngeal papillomas. Other lesions reported to be HPV-associated are squamous papilloma, verruca vulgaris, warty lip lesions, and conjunctival papillomas. Infectious disease
H00393 Enterovirus infection
Non-polio enterovirus infection
... family Picornaviridae of +ssRNA viruse. Most non-polio enterovirus infections are mild, but some of them can cause hand, foot and mouth disease, viral conjunctivitis, viral meningitis and other diseases. Infectious disease
H00449 Oculodentodigital dysplasia ... facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fasion. ODDD is caused by mutations in the gap junction alpha 1 gene. Congenital malformation GJA1 [HSA:2697] [KO:K07372]
H00553 Congenital supravalvar aortic stenosis ... ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The underlying cause of the disease is a loss-of function mutation of the elastin gene. Developmental disorder; Cardiovascular disease ELN [HSA:2006] [KO:K14211]
H00578 Epstein syndrome Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle ... Cardiovascular disease hsa04530 Tight junction
hsa04810 Regulation of actin cytoskeleton
MYH9 [HSA:4627] [KO:K10352]
H00586 Epidermolysis bullosa, junctional ... is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa are characterized by blister formation within the lamina lucida ... Congenital malformation hsa04510 Focal adhesion
hsa04512 ECM-receptor interaction
hsa04514 Cell adhesion molecules
hsa04810 Regulation of actin cytoskeleton
(JEB-H, JEB-nH) LAMA3 [HSA:3909] [KO:K06240]
(JEB-H, JEB-nH) LAMB3 [HSA:3914] [KO:K06244]
(JEB-H, JEB-nH) LAMC2 [HSA:3918] [KO:K06246]
(JEB-nH) COL17A1 [HSA:1308] [KO:K07603]
(JEB-PA) ITGB4 [HSA:3691] [KO:K06525]
(JEB-PA) ITGA6 [HSA:3655] [KO:K06485]
H00593 Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital ... Nervous system disease; Musculoskeletal disease hsa00514 Other types of O-glycan biosynthesis
hsa00515 Mannose type O-glycan biosynthesis
hsa04144 Endocytosis
hsa04510 Focal adhesion
hsa04530 Tight junction
hsa04120 Ubiquitin mediated proteolysis
(LGMD1A) TTID [HSA:9499] [KO:K19875]
(LGMD1B) LMNA [HSA:4000] [KO:K12641]
(LGMD1C) CAV3 [HSA:859] [KO:K12959]
(LGMD1E) DNAJB6 [HSA:10049] [KO:K09512]
(LGMD1F) TNPO3 [HSA:23534] [KO:K15436]
(LGMD1G) HNRNPDL [HSA:9987] [KO:K13044]
(LGMD2A) CAPN3 [HSA:825] [KO:K08573]
(LGMD2B) DYSF [HSA:8291] [KO:K18261]
(LGMD2C) SGCG [HSA:6445] [KO:K12564]
(LGMD2D) SGCA [HSA:6442] [KO:K12565]
(LGMD2E) SGCB [HSA:6443] [KO:K12566]
(LGMD2F) SGCD [HSA:6444] [KO:K12563]
(LGMD2G) TCAP [HSA:8557] [KO:K19879]
(LGMD2H) TRIM32 [HSA:22954] [KO:K10607]
(LGMD2I) FKRP [HSA:79147] [KO:K19873]
(LGMD2J) TTN [HSA:7273] [KO:K12567]
(LGMD2K) POMT1 [HSA:10585] [KO:K00728]
(LGMD2L) ANO5 [HSA:203859] [KO:K19480]
(LGMD2M) FKTN [HSA:2218] [KO:K19872]
(LGMD2N) POMT2 [HSA:29954] [KO:K00728]
(LGMD2O) POMGnT1 [HSA:55624] [KO:K09666]
(LGMD2P) DAG1 [HSA:1605] [KO:K06265]
(LGMD2Q) PLEC1 [HSA:5339] [KO:K10388]
(LGMD2R) DES [HSA:1674] [KO:K07610]
(LGMD2S) TRAPPC11 [HSA:60684] [KO:K20308]
(LGMD2T) GMPPB [HSA:29925] [KO:K00966]
(LGMD2U) ISPD [HSA:729920] [KO:K21031]
(LGMD2W) LIMS2 [HSA:55679] [KO:K23354]
(LGMD2X) BVES [HSA:11149] [KO:K21108]
(LGMD2Y) TOR1AIP1 [HSA:26092] [KO:K23001]
(LGMD2Z) POGLUT1 [HSA:56983] [KO:K13667]
H00594 Distal myopathy Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical ... Nervous system disease; Musculoskeletal disease hsa00520 Amino sugar and nucleotide sugar metabolism
hsa04260 Cardiac muscle contraction
hsa04530 Tight junction
hsa04141 Protein processing in endoplasmic reticulum
(MM1,DMAT) DYSF [HSA:8291] [KO:K18261]
(MM3) ANO5 [HSA:203859] [KO:K19480]
(DMRV) GNE [HSA:10020] [KO:K12409]
(WDM) TIA1 [HSA:7072] [KO:K13201]
(TMD) TTN [HSA:7273] [KO:K12567]
(MPD1) MYH7 [HSA:4625] [KO:K17751]
(MPD4) FLNC [HSA:2318] [KO:K04437]
(MPD5) ADSSL1 [HSA:122622] [KO:K01939]
(MPDT) CAV3 [HSA:859] [KO:K12959]
H00624 Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The ... Digestive system disease hsa04976 Bile secretion
hsa04979 Cholesterol metabolism
hsa04530 Tight junction
(PFIC1) ATP8B1 [HSA:5205] [KO:K01530]
(PFIC2) ABCB11 [HSA:8647] [KO:K05664]
(PFIC3) ABCB4 [HSA:5244] [KO:K05659]
(PFIC4) TJP2 [HSA:9414] [KO:K06098]
(PFIC5) NR1H4 [HSA:9971] [KO:K08537]
H00647 Ectodermal dysplasia-syndactyly syndrome ... abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly. The causative gene of EDSS is PVRL4, a cell adhesion molecule implicated in cadherin-based adherens junctions. Congenital malformation hsa04520 Adherens junction PVRL4 [HSA:81607] [KO:K06593]
H00648 Ectodermal dysplasia, Clouston type
Clouston syndrome
... total alopecia, nail dystrophy, hyperkeratosis of the palms and soles, and hyperpigmentation over the joints. Teeth are normal. Mutated connexin in the disease impairs formation of gap junction channels. Congenital malformation GJB6 [HSA:10804] [KO:K07625]
H00656 Scapuloperoneal myopathy Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic ... Nervous system disease; Musculoskeletal disease hsa04260 Cardiac muscle contraction
hsa04530 Tight junction
MYH7 [HSA:4625] [KO:K17751]
DES [HSA:1674] [KO:K07610]
FHL1 [HSA:2273] [KO:K14365]
H00703 Myosin storage myopathy
Hyaline body myopathy
Myosin storage myopathy (MSM), also called hyaline body myopathy, is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle ... Nervous system disease; Musculoskeletal disease hsa04260 Cardiac muscle contraction
hsa04530 Tight junction
MYH7 [HSA:4625] [KO:K17751]
H00719 Leprechaunism
Donohue syndrome
Leprechaunism (Donohue syndrome) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly ... Endocrine and metabolic disease hsa04520 Adherens junction
hsa04910 Insulin signaling pathway
hsa04960 Aldosterone-regulated sodium reabsorption
INSR [HSA:3643] [KO:K04527]
H00742 Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC)
... cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present epidermal scaling, pruritus, and neonatal ... Congenital malformation hsa04514 Cell adhesion molecules
hsa04530 Tight junction
hsa04670 Leukocyte transendothelial migration
CLDN1 [HSA:9076] [KO:K06087]
H00759 Waardenburg syndrome Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been ... Inherited metabolic disease; Albinism hsa04916 Melanogenesis
hsa04520 Adherens junction
hsa04020 Calcium signaling pathway
hsa04080 Neuroactive ligand-receptor interaction
hsa04916 Melanogenesis
(WS 1/3) PAX3 [HSA:5077] [KO:K09381]
(WS 2A) MITF [HSA:4286] [KO:K09455]
(WS 2D) SNAI2 [HSA:6591] [KO:K05706]
(WS 2E/4C) SOX10 [HSA:6663] [KO:K09270]
(WS 4A) EDNRB [HSA:1910] [KO:K04198]
(WS 4B) EDN3 [HSA:1908] [KO:K05227]
H00770 Congenital myasthenic syndrome ... heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation and function depend. The majority are recessively ... Nervous system disease hsa04080 Neuroactive ligand-receptor interaction
hsa00564 Glycerophospholipid metabolism
hsa04725 Cholinergic synapse
hsa04512 ECM-receptor interaction
hsa00520 Amino sugar and nucleotide sugar metabolism
(CMS1A/1B) CHRNA1 [HSA:1134] [KO:K04803]
(CMS2A/2C) CHRNB1 [HSA:1140] [KO:K04812]
(CMS3A/3B/3C) CHRND [HSA:1144] [KO:K04816]
(CMS4A/4B/4C) CHRNE [HSA:1145] [KO:K04817]
(CMS5) COLQ [HSA:8292]
(CMS6) CHAT [HSA:1103] [KO:K00623]
(CMS7) SYT2 [HSA:127833] [KO:K19902]
(CMS8) AGRN [HSA:375790] [KO:K06254]
(CMS9) MUSK [HSA:4593] [KO:K05129]
(CMS10) DOK7 [HSA:285489] [KO:K24038]
(CMS11) RAPSN [HSA:5913]
(CMS12) GFPT1 [HSA:2673] [KO:K00820]
(CMS13) DPAGT1 [HSA:1798] [KO:K01001]
(CMS14) ALG2 [HSA:85365] [KO:K03843]
(CMS15) ALG14 [HSA:199857] [KO:K07441]
(CMS16) SCN4A [HSA:6329] [KO:K04837]
(CMS17) LRP4 [HSA:4038] [KO:K20051]
(CMS18) SNAP25 [HSA:6616] [KO:K18211]
(CMS19) COL13A1 [HSA:1305] [KO:K16617]
(CMS20) SLC5A7 [HSA:60482] [KO:K14387]
(CMS21) SLC18A3 [HSA:6572] [KO:K14636]
(CMS22) PREPL [HSA:9581] [KO:K22582]
(CMS23) SLC25A1 [HSA:6576] [KO:K15100]
(CMS24) MYO9A [HSA:4649] [KO:K10360]
(CMS25) VAMP1 [HSA:6843] [KO:K08510]
H00800 Loeys-Dietz syndrome Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent ... Developmental disorder; Cardiovascular disease hsa04010 MAPK signaling pathway
hsa04060 Cytokine-cytokine receptor interaction
hsa04144 Endocytosis
hsa04350 TGF-beta signaling pathway
hsa04380 Osteoclast differentiation
hsa04390 Hippo signaling pathway
hsa04520 Adherens junction
(LDS 1A/2A) TGFBR1 [HSA:7046] [KO:K04674]
(LDS 1B/2B) TGFBR2 [HSA:7048] [KO:K04388]
(LDS3) SMAD3 [HSA:4088] [KO:K23605]
(LDS4) TGFB2 [HSA:7042] [KO:K13376]
(LDS5) TGFB3 [HSA:7043] [KO:K13377]
H00801 Familial thoracic aortic aneurysm and dissection
Aortic aneurysm familial thoracic type (AAT)
Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single ... Cardiovascular disease hsa04270 Vascular smooth muscle contraction
hsa04010 MAPK signaling pathway
hsa04020 Calcium signaling pathway
hsa04060 Cytokine-cytokine receptor interaction
hsa04350 TGF-beta signaling pathway
hsa04510 Focal adhesion
hsa04520 Adherens junction
hsa04530 Tight junction
hsa04810 Regulation of actin cytoskeleton
(AAT3) TGFBR2 [HSA:7048] [KO:K04388]
(AAT4) MYH11 [HSA:4629] [KO:K10352]
(AAT5) TGFBR1 [HSA:7046] [KO:K04674]
(AAT6) ACTA2 [HSA:59] [KO:K12313]
(AAT7) MYLK [HSA:4638] [KO:K00907]
(AAT8) PRKG1 [HSA:5592] [KO:K07376]
(AAT9) MFAP5 [HSA:8076]
(AAT10) LOX [HSA:4015] [KO:K00277]
(AAT11) FOXE3 [HSA:2301] [KO:K09398]
H00811 Distal arthrogryposis Distal arthrogryposis (DA) are a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often are associated with abnormal facies. To date, 10 different ... Congenital malformation hsa04260 Cardiac muscle contraction
hsa04530 Tight junction
(DA1, DA2B) TPM2 [HSA:7169] [KO:K10374]
(DA1B) MYBPC1 [HSA:4604] [KO:K12557]
(DA2B) TNNI2 [HSA:7136] [KO:K12043]
(DA2B) TNNT3 [HSA:7140] [KO:K12046]
(DA2A, DA2B, DA8) MYH3 [HSA:4621] [KO:K24220]
(DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128]
(DA5D) ECEL1 [HSA:9427] [KO:K09610]
(DA7) MYH8 [HSA:4626] [KO:K24220]
(DA9) FBN2 [HSA:2201] [KO:K23342]
H00813 Laryngo onycho cutaneous syndrome ... cutaneous erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem disorder is caused by deficient laminin synthesis in epithelial basement membrane Congenital malformation hsa04510 Focal adhesion
hsa04512 ECM-receptor interaction
LAMA3 [HSA:3909] [KO:K06240]
H00838 Congenital fibrosis of the extraocular muscles Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear ... Nervous system disease hsa04145 Phagosome
hsa04540 Gap junction
(CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K24185]
(CFEOM2) PHOX2A [HSA:401] [KO:K09330]
(CFEOM3A) TUBB3 [HSA:10381] [KO:K07375]
(CFEOM5) COL25A1 [HSA:84570] [KO:K24356]
H00840 Band-like calcification with simplified gyration and polymicrogyria
Pseudo-TORCH syndrome
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually ... Nervous system disease hsa04514 Cell adhesion molecules
hsa04530 Tight junction
hsa04670 Leukocyte transendothelial migration
OCLN [HSA:100506658] [KO:K06088]
H00848 Ataxia with ocular apraxia ... homozygous mutations in genes encoding a protein involved in DNA repair. Ophthalmic features of AT include conjunctival telangiectasia, strabismus, saccadic dysfunction with head thrusts, and convergence insufficiency ... Nervous system disease (AOA1) APTX [HSA:54840] [KO:K10863]
(AOA2) SETX [HSA:23064] [KO:K10706]
(AOA3) PIK3R5 [HSA:23533] [KO:K21290]
(AOA4) PNKP [HSA:11284] [KO:K08073]
H00860 Benign hereditary chorea ... hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis include normal ... Nervous system disease hsa04918 Thyroid hormone synthesis TTF1 [HSA:7270] [KO:K15225]
H00872 Trismus-pseudocamptodactyly syndrome
Hecht-Beals Syndrome
Dutch-Kentucky syndrome
Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly ... Congenital malformation hsa04530 Tight junction MYH8 [HSA:4626] [KO:K24220]
H00894 FG syndrome
Opitz-Kaveggia syndrome
FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity ... Congenital malformation hsa04010 MAPK signaling pathway
hsa04510 Focal adhesion
hsa04530 Tight junction
(FGS1) MED12 [HSA:9968] [KO:K15162]
(FGS2) FLNA [HSA:2316] [KO:K04437]
(FGS4) CASK [HSA:8573] [KO:K06103]
H00942 Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) is a rare disorder involving severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound ... Endocrine disease hsa04520 Adherens junction
hsa04910 Insulin signaling pathway
hsa04960 Aldosterone-regulated sodium reabsorption
INSR [HSA:3643] [KO:K04527]
H00947 Pilomatricoma
Epithelioma calcificans of Malherbe
Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic ... Skin and connective tissue disease hsa04310 Wnt signaling pathway
hsa04510 Focal adhesion
hsa04520 Adherens junction
hsa04530 Tight junction
hsa04670 Leukocyte transendothelial migration
hsa04916 Melanogenesis
hsa05200 Pathways in cancer
CTNNB1 [HSA:1499] [KO:K02105]
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