Search Result |
Top |
Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00092 | T-B-Severe combined immunodeficiency | ... and NK cells. V(D)J- recombination deficiency caused by defects in recombinase-activating gene 1 (RAG1), RAG2 and Artemis (DCLRE1C) leads to a T-B-SCID phenotype that is characterized by an arrest of ... | Primary immunodeficiency |
ADA [HSA:100] [KO:K01488] RAG1 [HSA:5896] [KO:K10628] RAG2 [HSA:5897] [KO:K10988] DCLRE1C [HSA:64421] [KO:K10887] AK2 [HSA:204] [KO:K00939] PRKDC [HSA:5591] [KO:K06642] |
|
H00120 | Muscular dystrophy-dystroglycanopathy type A | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder |
(MDDGA1) POMT1 [HSA:10585] [KO:K00728] (MDDGA2) POMT2 [HSA:29954] [KO:K00728] (MDDGA3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGA4) FKTN [HSA:2218] [KO:K19872] (MDDGA5) FKRP [HSA:79147] [KO:K19873] (MDDGA6) LARGE [HSA:9215] [KO:K09668] (MDDGA7) CRPPA [HSA:729920] [KO:K21031] (MDDGA8) POMGNT2 [HSA:84892] [KO:K18207] (MDDGA9) DAG1 [HSA:1605] [KO:K06265] (MDDGA10) RXYLT1 [HSA:10329] [KO:K21052] (MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654] (MDDGA12) POMK [HSA:84197] [KO:K17547] (MDDGA13) B4GAT1 [HSA:11041] [KO:K21032] (MDDGA14) GMPPB [HSA:29925] [KO:K00966] |
|
H00264 |
Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy |
Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... | Neurodegenerative disease |
(CMT1A/1E) PMP22 [HSA:5376] [KO:K19289] (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770] (CMT1C) LITAF [HSA:9516] [KO:K19363] (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496] (CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572] (CMT1G) PMP2 [HSA:5375] [KO:K24977] (CMT1H) FBLN5 [HSA:10516] [KO:K17340] (CMT1I) POLR3B [HSA:55703] [KO:K03021] (CMT1J) ITPR3 [HSA:3710] [KO:K04960] (CMT2A1) KIF1B [HSA:23095] [KO:K10392] (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030] (CMT2B) RAB7A [HSA:7879] [KO:K07897] (CMT2B1) LMNA [HSA:4000] [KO:K12641] (CMT2B2) PNKP [HSA:11284] [KO:K08073] (CMT2C) TRPV4 [HSA:59341] [KO:K04973] (CMT2CC) NEFH [HSA:4744] [KO:K04574] (CMT2D) GARS1 [HSA:2617] [KO:K01880] (CMT2DD) ATP1A1 [HSA:476] [KO:K01539] (CMT2EE) MPV17 [HSA:4358] [KO:K13348] (CMT2F) HSPB1 [HSA:3315] [KO:K04455] (CMT2FF) CADM3 [HSA:57863] [KO:K06780] (CMT2GG) GBF1 [HSA:8729] [KO:K18443] (CMT2HH) JAG1 [HSA:182] [KO:K06052] (CMT2II) SLC12A6 [HSA:9990] [KO:K14427] (CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077] (CMT2K) JPH1 [HSA:56704] [KO:K19530] (CMT2L) HSPB8 [HSA:26353] [KO:K08879] (CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484] (CMT2N) AARS1 [HSA:16] [KO:K01872] (CMT2O) DYNC1H1 [HSA:1778] [KO:K10413] (CMT2P) LRSAM1 [HSA:90678] [KO:K10641] (CMT2Q) DHTKD1 [HSA:55526] [KO:K15791] (CMT2R) TRIM2 [HSA:23321] [KO:K11997] (CMT2S) IGHMBP2 [HSA:3508] [KO:K19036] (CMT2T) MME [HSA:4311] [KO:K01389] (CMT2U) MARS1 [HSA:4141] [KO:K01874] (CMT2V) NAGLU [HSA:4669] [KO:K01205] (CMT2W) HARS1 [HSA:3035] [KO:K01892] (CMT2X) SPG11 [HSA:80208] [KO:K19026] (CMT2Y) VCP [HSA:7415] [KO:K13525] (CMT2Z) MORC2 [HSA:22880] [KO:K24135] (CMT4B1) MTMR2 [HSA:8898] [KO:K18081] (CMT4B2) SBF2 [HSA:81846] [KO:K18061] (CMT4B3) SBF1 [HSA:6305] [KO:K18061] (CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313] (CMT4D) NDRG1 [HSA:10397] [KO:K18266] (CMT4F) PRX [HSA:57716] [KO:K27395] (CMT4H) FGD4 [HSA:121512] [KO:K05723] (CMT4J) FIG4 [HSA:9896] [KO:K22913] (CMT4K) SURF1 [HSA:6834] [KO:K14998] (CMT6B) SLC25A46 [HSA:91137] [KO:K03454] (CMT6C) PDXK [HSA:8566] [KO:K00868] (CMTX1) GJB1 [HSA:2705] [KO:K07620] (CMTX5) PRPS1 [HSA:5631] [KO:K00948] (CMTX6) PDK3 [HSA:5165] [KO:K00898] (CMTDIC) YARS1 [HSA:8565] [KO:K01866] (CMTDIE) INF2 [HSA:64423] [KO:K23958] (CMTDIF) GNB4 [HSA:59345] [KO:K04538] (CMTRIB) KARS1 [HSA:3735] [KO:K04567] (CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464] (CMTRID) COX6A1 [HSA:1337] [KO:K02266] |
|
H00549 | Tetralogy of Fallot | The four classic features of tetralogy of Fallot (TOF) are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. These cardiac abnormalities are resulted from ... | Congenital malformation |
NKX2-5 [HSA:1482] [KO:K09345] JAG1 [HSA:182] [KO:K06052] ZFPM2 [HSA:23414] [KO:K17442] GATA4 [HSA:2626] [KO:K09183] GATA6 [HSA:2627] [KO:K17897] TBX1 [HSA:6899] [KO:K10175] GDF1 [HSA:2657] [KO:K05495] |
|
H00551 | Alagille syndrome | Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and ... | Congenital malformation |
(ALGS1) JAG1 [HSA:182] [KO:K06052] (ALGS2) NOTCH2 [HSA:4853] [KO:K20994] |
|
H00564 | Primary ciliary dyskinesia | Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in ... | Respiratory system disease |
(CILD1) DNAI1 [HSA:27019] [KO:K10409] (CILD2) DNAAF3 [HSA:352909] [KO:K19752] (CILD3) DNAH5 [HSA:1767] [KO:K10408] (CILD5) HYDIN [HSA:54768] [KO:K17570] (CILD6) NME8 [HSA:51314] [KO:K19868] (CILD7) DNAH11 [HSA:8701] [KO:K10408] (CILD9) DNAI2 [HSA:64446] [KO:K11143] (CILD10) DNAAF2 [HSA:55172] [KO:K19751] (CILD11) RSPH4A [HSA:345895] [KO:K19756] (CILD12) RSPH9 [HSA:221421] [KO:K19757] (CILD13) DNAAF1 [HSA:123872] [KO:K19750] (CILD14) CCDC39 [HSA:339829] [KO:K23729] (CILD15) CCDC40 [HSA:55036] [KO:K23730] (CILD16) DNAL1 [HSA:83544] [KO:K10411] (CILD17) CCDC103 [HSA:388389] [KO:K23731] (CILD18) DNAAF5 [HSA:54919] [KO:K19759] (CILD19) DNAAF11 [HSA:23639] [KO:K19753] (CILD20) ODAD1 [HSA:93233] [KO:K23732] (CILD21) DRC1 [HSA:92749] [KO:K19754] (CILD22) ZMYND10 [HSA:51364] [KO:K24030] (CILD23) ODAD2 [HSA:55130] [KO:K24125] (CILD24) RSPH1 [HSA:89765] [KO:K19755] (CILD25) DNAAF4 [HSA:161582] [KO:K19758] (CILD26) CFAP298 [HSA:56683] [KO:K24229] (CILD27) CCDC65 [HSA:85478] [KO:K23728] (CILD28) SPAG1 [HSA:6674] [KO:K19870] (CILD29) CCNO [HSA:10309] [KO:K10861] (CILD30) ODAD3 [HSA:115948] [KO:K23733] (CILD32) RSPH3 [HSA:83861] [KO:K23965] (CILD33) GAS8 [HSA:2622] [KO:K19942] (CILD34) DNAJB13 [HSA:374407] [KO:K09519] (CILD35) ODAD4 [HSA:83538] [KO:K24254] (CILD36) DNAAF6 [HSA:139212] [KO:K24253] (CILD37) DNAH1 [HSA:25981] [KO:K10408] (CILD38) CFAP300 [HSA:85016] [KO:K24230] (CILD39) LRRC56 [HSA:115399] [KO:K25425] (CILD40) DNAH9 [HSA:1770] [KO:K10408] (CILD41) GAS2L2 [HSA:246176] [KO:K24627] (CILD42) MCIDAS [HSA:345643] [KO:K26119] (CILD43) FOXJ1 [HSA:2302] [KO:K09402] (CILD44) NEK10 [HSA:152110] [KO:K20879] (CILD45) TTC12 [HSA:54970] [KO:K24652] (CILD46) STK36 [HSA:27148] [KO:K06228] (CILD47) TP73 [HSA:7161] [KO:K10148] (CILD48) NME5 [HSA:8382] [KO:K20790] (CILD49) CFAP74 [HSA:85452] [KO:K25607] (CILD50) DNAH7 [HSA:56171] [KO:K10408] (CILD51) BRWD1 [HSA:54014] [KO:K11798] (CILD52) DAW1 [HSA:164781] [KO:K19760] (CILD53) CLXN [HSA:79645] [KO:K27179] |
|
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 |
(LGMDD1) DNAJB6 [HSA:10049] [KO:K09512] (LGMDD2) TNPO3 [HSA:23534] [KO:K15436] (LGMDD3) HNRNPDL [HSA:9987] [KO:K13044] (LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573] (LGMDR2) DYSF [HSA:8291] [KO:K18261] (LGMDR3) SGCA [HSA:6442] [KO:K12565] (LGMDR4) SGCB [HSA:6443] [KO:K12566] (LGMDR5) SGCG [HSA:6445] [KO:K12564] (LGMDR6) SGCD [HSA:6444] [KO:K12563] (LGMDR7) TCAP [HSA:8557] [KO:K19879] (LGMDR8) TRIM32 [HSA:22954] [KO:K10607] (LGMDR9) FKRP [HSA:79147] [KO:K19873] (LGMDR10) TTN [HSA:7273] [KO:K12567] (LGMDR11) POMT1 [HSA:10585] [KO:K00728] (LGMDR12) ANO5 [HSA:203859] [KO:K19480] (LGMDR13) FKTN [HSA:2218] [KO:K19872] (LGMDR14) POMT2 [HSA:29954] [KO:K00728] (LGMDR15) POMGNT1 [HSA:55624] [KO:K09666] (LGMDR16) DAG1 [HSA:1605] [KO:K06265] (LGMDR17) PLEC [HSA:5339] [KO:K10388] (LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308] (LGMDR19) GMPPB [HSA:29925] [KO:K00966] (LGMDR20) CRPPA [HSA:729920] [KO:K21031] (LGMDR21) POGLUT1 [HSA:56983] [KO:K13667] (LGMDR23) LAMA2 [HSA:3908] [KO:K05637] (LGMDR24) POMGNT2 [HSA:84892] [KO:K18207] (LGMDR25) BVES [HSA:11149] [KO:K21108] (LGMDR26) POPDC3 [HSA:64208] [KO:K26207] (LGMDR27) JAG2 [HSA:3714] [KO:K21635] (LGMDR28) HMGCR [HSA:3156] [KO:K00021] (MDRCMTT) LIMS2 [HSA:55679] [KO:K23354] (MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001] |
|
H00625 |
Tooth agenesis Hypodontia |
Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the ... | Congenital malformation |
(STHAG1) MSX1 [HSA:4487] [KO:K09341] (STHAG3) PAX9 [HSA:5083] [KO:K09382] (STHAG4) WNT10A [HSA:80326] [KO:K01357] (STHAG7) LRP6 [HSA:4040] [KO:K03068] (STHAG8) WNT10B [HSA:7480] [KO:K01357] (STHAG9) GREM2 [HSA:64388] [KO:K23318] (STHAG10) TSPEAR [HSA:54084] [KO:K24437] (STHAGX1) EDA [HSA:1896] [KO:K05480] (DASS) LTBP3 [HSA:4054] [KO:K08023] |
|
H00711 |
Russell-Silver syndrome Silver-Russell syndrome |
Russell-Silver syndrome, also known as Silver-Russell syndrome (SRS), is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular ... | Congenital malformation |
(SRS3) IGF2 [HSA:3481] [KO:K13769] (SRS4) PLAG1 [HSA:5324] [KO:K19484] (SRS5) HMGA2 [HSA:8091] [KO:K09283] |
|
H00773 |
Autosomal dominant intellectual developmental disorder Autosomal dominant mental retardation |
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most ... | Mental and behavioural disorder |
(MRD1) MBD5 [HSA:55777] [KO:K23219] (MRD2) DOCK8 [HSA:81704] [KO:K21852] (MRD3) CDH15 [HSA:1013] [KO:K06809] (MRD4) KIRREL3 [HSA:84623] [KO:K25874] (MRD5) SYNGAP1 [HSA:8831] [KO:K17631] (MRD6) GRIN2B [HSA:2904] [KO:K05210] (MRD7) DYRK1A [HSA:1859] [KO:K08825] (MRD8) GRIN1 [HSA:2902] [KO:K05208] (MRD9) KIF1A [HSA:547] [KO:K10392] (MRD10) CACNG2 [HSA:10369] [KO:K04867] (MRD11) EPB41L1 [HSA:2036] [KO:K23961] (MRD12) ARID1B [HSA:57492] [KO:K11653] (MRD13) DYNC1H1 [HSA:1778] [KO:K10413] (MRD14) ARID1A [HSA:8289] [KO:K11653] (MRD15) SMARCB1 [HSA:6598] [KO:K11648] (MRD16) SMARCA4 [HSA:6597] [KO:K11647] (MRD17) PACS1 [HSA:55690] [KO:K23290] (MRD18) GATAD2B [HSA:57459] [KO:K23194] (MRD19) CTNNB1 [HSA:1499] [KO:K02105] (MRD20) MEF2C [HSA:4208] [KO:K04454] (MRD21) CTCF [HSA:10664] [KO:K23195] (MRD22) ZBTB18 [HSA:10472] [KO:K23196] (MRD23) SETD5 [HSA:55209] [KO:K23216] (MRD24) DEAF1 [HSA:10522] [KO:K23041] (MRD25) AHDC1 [HSA:27245] [KO:K22592] (MRD26) AUTS2 [HSA:26053] [KO:K23214] (MRD27) SOX11 [HSA:6664] [KO:K09268] (MRD29) SETBP1 [HSA:26040] [KO:K23217] (MRD30) ZMYND11 [HSA:10771] [KO:K23218] (MRD31) PURA [HSA:5813] [KO:K21772] (MRD32) KAT6A [HSA:7994] [KO:K11305] (MRD33) DPP6 [HSA:1804] [KO:K23013] (MRD34) COL4A3BP [HSA:10087] [KO:K08283] (MRD35) PPP2R5D [HSA:5528] [KO:K11584] (MRD36) PPP2R1A [HSA:5518] [KO:K03456] (MRD38) EEF1A2 [HSA:1917] [KO:K03231] (MRD39) MYT1L [HSA:23040] [KO:K23193] (MRD40) CHAMP1 [HSA:283489] [KO:K22593] (MRD41) TBL1XR1 [HSA:79718] [KO:K04508] (MRD42) GNB1 [HSA:2782] [KO:K04536] (MRD43) HIVEP2 [HSA:3097] [KO:K09239] (MRD44/63) TRIO [HSA:7204] [KO:K08810] (MRD45) CIC [HSA:23152] [KO:K20225] (MRD46) KCNQ5 [HSA:56479] [KO:K04930] (MRD47) STAG1 [HSA:10274] [KO:K06671] (MRD48) RAC1 [HSA:5879] [KO:K04392] (MRD49) TRIP12 [HSA:9320] [KO:K10590] (MRD50) NAA15 [HSA:80155] [KO:K20792] (MRD51) KMT5B [HSA:51111] [KO:K11429] (MRD52) ASH1L [HSA:55870] [KO:K06101] (MRD53) CAMK2A [HSA:815] [KO:K04515] (MRD54) CAMK2B [HSA:816] [KO:K04515] (MRD55) NUS1 [HSA:116150] [KO:K19177] (MRD56) CLTC [HSA:1213] [KO:K04646] (MRD57) TLK2 [HSA:11011] [KO:K08864] (MRD58) SET [HSA:6418] [KO:K11290] (MRD59) CAMK2G [HSA:818] [KO:K04515] (MRD60) AP2M1 [HSA:1173] [KO:K11826] (MRD61) MED13 [HSA:9969] [KO:K15164] (MRD62) DLG4 [HSA:1742] [KO:K11828] (MRD64) ZNF292 [HSA:23036] [KO:K26728] (MRD65) KDM4B [HSA:23030] [KO:K06709] (MRD66) ATP2B1 [HSA:490] [KO:K05850] (MRD67) GRIA1 [HSA:2890] [KO:K05197] (MRD68) KMT2B [HSA:9757] [KO:K14959] (MRD69) LMAN2L [HSA:81562] [KO:K10083] (MRD70) SETD2 [HSA:29072] [KO:K11423] (MRD71) RFX7 [HSA:64864] [KO:K09175] (MRD72) SRRM2 [HSA:23524] [KO:K13172] (MRD73) TAF4 [HSA:6874] [KO:K03129] (MRD74) HNRNPC [HSA:3183] [KO:K12884] |
|
H01244 | T+B+Severe combined immunodeficiencies (SCIDs) | ... immunological phenotype of T+B+NK+SCID (severe combined immunodeficiencies) associated with recessive RAG1 hypomorphic mutations. The immunological phenotype consists of the oligoclonal expansion of TCR-gamma/delta ... | Primary immunodeficiency | RAG-1 [HSA:5896] [KO:K10628] | |
H01282 | Spermatogenic failure | Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... | Reproductive system disease |
(SPGF1) SYCP2 [HSA:10388] [KO:K19529] (SPGF3) SLC26A8 [HSA:116369] [KO:K14705] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (SPGF5) AURKC [HSA:6795] [KO:K11480] (SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF7) CATSPER1 [HSA:117144] [KO:K16889] (SPGF8) NR5A1 [HSA:2516] [KO:K08560] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF10) SEPTIN12 [HSA:124404] [KO:K16938] (SPGF11) KLHL10 [HSA:317719] [KO:K10448] (SPGF12) NANOS1 [HSA:340719] [KO:K18741] (SPGF13) TAF4B [HSA:6875] [KO:K03129] (SPGF14) ZMYND15 [HSA:84225] [KO:K24081] (SPGF15) SYCE1 [HSA:93426] [KO:K19534] (SPGF16) SUN5 [HSA:140732] [KO:K21876] (SPGF17) PLCZ1 [HSA:89869] [KO:K05861] (SPGF18) DNAH1 [HSA:25981] [KO:K10408] (SPGF19) CFAP43 [HSA:80217] [KO:K24223] (SPGF20) CFAP44 [HSA:55779] [KO:K24224] (SPGF21) BRDT [HSA:676] [KO:K11724] (SPGF22) MEIOB [HSA:254528] [KO:K22420] (SPGF23) TEX14 [HSA:56155] [KO:K17540] (SPGF24) CFAP69 [HSA:79846] [KO:K24227] (SPGF25) TEX15 [HSA:56154] [KO:K25680] (SPGF26) TSGA10 [HSA:80705] [KO:K25632] (SPGF27) AK7 [HSA:122481] [KO:K00939] (SPGF28) FANCM [HSA:57697] [KO:K10896] (SPGF29) SPINK2 [HSA:6691] [KO:K23418] (SPGF30) TDRD9 [HSA:122402] [KO:K18408] (SPGF31) PMFBP1 [HSA:83449] [KO:K23223] (SPGF32) SOHLH1 [HSA:402381] [KO:K22495] (SPGF33) CFAP251 [HSA:144406] [KO:K24228] (SPGF34) FSIP2 [HSA:401024] [KO:K26675] (SPGF35) QRICH2 [HSA:84074] [KO:K24298] (SPGF36) PPP2R3C [HSA:55012] [KO:K11583] (SPGF37) TTC21A [HSA:199223] [KO:K24178] (SPGF38) ARMC2 [HSA:84071] [KO:K24123] (SPGF39) DNAH17 [HSA:8632] [KO:K10408] (SPGF40) CFAP65 [HSA:255101] [KO:K24226] (SPGF41) CFAP70 [HSA:118491] [KO:K24932] (SPGF42) TTC29 [HSA:83894] [KO:K24937] (SPGF43) SPEF2 [HSA:79925] [KO:K25615] (SPGF44) CEP112 [HSA:201134] [KO:K16767] (SPGF45) DNAH2 [HSA:146754] [KO:K10408] (SPGF46) DNAH8 [HSA:1769] [KO:K10408] (SPGF47) DZIP1 [HSA:22873] [KO:K16470] (SPGF48) M1AP [HSA:130951] [KO:K26106] (SPGF49) CFAP58 [HSA:159686] [KO:K25554] (SPGF50) XRCC2 [HSA:7516] [KO:K10879] (SPGF51) CFAP91 [HSA:89876] [KO:K25461] (SPGF52) C14orf39 [HSA:317761] [KO:K25705] (SPGF53) ACTL9 [HSA:284382] (SPGF54) CATIP [HSA:375307] [KO:K25788] (SPGF55) SPAG17 [HSA:200162] [KO:K25533] (SPGF56) DNAH10 [HSA:196385] [KO:K10408] (SPGF57) PNLDC1 [HSA:154197] [KO:K01148] (SPGF58) IFT74 [HSA:80173] [KO:K19679] (SPGF59) TERB2 [HSA:145645] [KO:K25750] (SPGF60) TERB1 [HSA:283847] [KO:K25749] (SPGF61) STAG3 [HSA:10734] [KO:K13055] (SPGF62) RNF212 [HSA:285498] [KO:K25662] (SPGF63) RPL10L [HSA:140801] [KO:K02866] (SPGF64) FBXO43 [HSA:286151] [KO:K10318] (SPGF65) DNHD1 [HSA:144132] [KO:K26555] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807] (SPGF70) PDHA2 [HSA:5161] [KO:K00161] (SPGF71) ZSWIM7 [HSA:125150] [KO:K25770] (SPGF72) WDR19 [HSA:57728] [KO:K19671] (SPGF73) MOV10L1 [HSA:54456] [KO:K13983] (SPGF74) MSH5 [HSA:4439] [KO:K08741] (SPGF75) SHOC1 [HSA:158401] (SPGF76) CCDC34 [HSA:91057] [KO:K16753] (SPGF77) FKBP6 [HSA:8468] [KO:K09572] (SPGF78) IQCN [HSA:80726] [KO:K26737] (SPGF79) KCNU1 [HSA:157855] [KO:K05274] (SPGF80) DRC1 [HSA:92749] [KO:K19754] (SPGF81) TEKT3 [HSA:64518] [KO:K18630] (SPGF82) AKAP3 [HSA:10566] [KO:K16520] (SPGF83) DNALI1 [HSA:7802] [KO:K10410] (SPGF84) CFAP61 [HSA:26074] [KO:K25460] (SPGF85) SPACA1 [HSA:81833] [KO:K25513] (SPGF86) ACTL7A [HSA:10881] (SPGF87) ACR [HSA:49] [KO:K01317] (SPGF88) KASH5 [HSA:147872] [KO:K22595] (SPGF89) AK9 [HSA:221264] [KO:K18533] (SPGF90) ARMC12 [HSA:221481] [KO:K24168] (SPGF91) CCIN [HSA:881] [KO:K24809] (SPGFX2) TEX11 [HSA:56159] [KO:K24574] (SPGFX3) CFAP47 [HSA:286464] [KO:K25552] (SPGFX4) GCNA [HSA:93953] [KO:K26957] (SPGFX5) SSX1 [HSA:6756] [KO:K15624] (SPGFX6) USP26 [HSA:83844] [KO:K11850] (SPGFX7) CT55 [HSA:54967] [KO:K25478] |
|
H01959 | Muscular dystrophy-dystroglycanopathy type C | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder |
(MDDGC1) POMT1 [HSA:10585] [KO:K00728] (MDDGC2) POMT2 [HSA:29954] [KO:K00728] (MDDGC3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGC4) FKTN [HSA:2218] [KO:K19872] (MDDGC5) FKRP [HSA:79147] [KO:K19873] (MDDGC7) CRPPA [HSA:729920] [KO:K21031] (MDDGC8) POMGNT2 [HSA:84892] [KO:K18207] (MDDGC9) DAG1 [HSA:1605] [KO:K06265] (MDDGC12) POMK [HSA:84197] [KO:K17547] (MDDGC14) GMPPB [HSA:29925] [KO:K00966] (MDDGC15) DPM3 [HSA:54344] [KO:K09659] |
|
H02307 | Muscular dystrophy-dystroglycanopathy | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder |
POMT1 [HSA:10585] [KO:K00728] POMT2 [HSA:29954] [KO:K00728] POMGNT1 [HSA:55624] [KO:K09666] FKTN [HSA:2218] [KO:K19872] FKRP [HSA:79147] [KO:K19873] LARGE [HSA:9215] [KO:K09668] ISPD [HSA:729920] [KO:K21031] GTDC2 [HSA:84892] [KO:K18207] DAG1 [HSA:1605] [KO:K06265] TMEM5 [HSA:10329] [KO:K21052] B3GALNT2 [HSA:148789] [KO:K09654] POMK [HSA:84197] [KO:K17547] B3GNT1 [HSA:11041] [KO:K21032] GMPPB [HSA:29925] [KO:K00966] |
|
H02554 | Omenn syndrome | ... hepatosplenomegaly, lymphadenopathy, and alopecia. Mutations in the recombination activating genes 1 and 2 (RAG1/2) have been described in the majority of patients with this disease. Omenn syndrome caused by ARTEMIS ... | Immune system disease |
RAG1 [HSA:5896] [KO:K10628] RAG2 [HSA:5897] [KO:K10988] DCLRE1C [HSA:64421] [KO:K10887] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |