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Entry Name Description Category Pathway Gene
H00281 GM1 gangliosidosis ... activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues and a highly variable storage of keratan sulfate and glycopeptides in visceral and skeletal tissues. There are ... Inherited metabolic disorder, Lysosomal disease GLB1 [HSA:2720] [KO:K12309]
H00282 Cryopyrin associated periodic syndrome ... characterized by recurrent inflammatory episodes. The pathogenic mechanism of these syndromes is attributed to increased activation of the NLRP3 inflammasome, resulting in aberrantly high production of IL-1beta. Immune system disease NLRP3 [HSA:114548] [KO:K12800]
H00285 Blau syndrome ... activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually ... Immune system disease NOD2 [HSA:64127] [KO:K10165]
H00289 Recurrent hydatidiform moles
Familial biparental hydatidiform 		... occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is higher in other areas in the world. Recurrent hydatidiform mole (RHM), the familial cases of the disease ... Reproductive system disease (HYDM) NALP7 [HSA:199713] [KO:K20864]
(HYDM2) KHDC3L [HSA:154288] [KO:K25076]
(HYDM3) MEI1 [HSA:150365] [KO:K25318]
(HYDM4) C11orf80 [HSA:79703] [KO:K24789]
H00292 Hypertrophic cardiomyopathy ... is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient ... Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy (CMH1) MYH7 [HSA:4625] [KO:K17751]
(CMH1) MYLK2 [HSA:85366] [KO:K00907]
(CMH1) CAV3 [HSA:859] [KO:K12959]
(CMH2) TNNT2 [HSA:7139] [KO:K12045]
(CMH3) TPM1 [HSA:7168] [KO:K10373]
(CMH4) MYBPC3 [HSA:4607] [KO:K12568]
(CMH6) PRKAG2 [HSA:51422] [KO:K07200]
(CMH7) TNNI3 [HSA:7137] [KO:K12044]
(CMH8) MYL3 [HSA:4634] [KO:K12749]
(CMH9) TTN [HSA:7273] [KO:K12567]
(CMH10) MYL2 [HSA:4633] [KO:K10351]
(CMH11) ACTC1 [HSA:70] [KO:K12314]
(CMH12) CSRP3 [HSA:8048] [KO:K09377]
(CMH13) TNNC1 [HSA:7134] [KO:K05865]
(CMH14) MYH6 [HSA:4624] [KO:K17751]
(CMH15) VCL [HSA:7414] [KO:K05700]
(CMH16) MYOZ2 [HSA:51778] [KO:K26050]
(CMH17) JPH2 [HSA:57158] [KO:K19530]
(CMH18) PLN [HSA:5350] [KO:K05852]
(CMH20) NEXN [HSA:91624] [KO:K23918]
(CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028]
(CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073]
(CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867]
(CMH25) TCAP [HSA:8557] [KO:K19879]
(CMH26) FLNC [HSA:2318] [KO:K27393]
(CMH27) ALPK3 [HSA:57538] [KO:K08868]
(CMH28) FHOD3 [HSA:80206] [KO:K23939]
(CMH29) KLHL24 [HSA:54800] [KO:K10461]
(CMH30) CORIN [HSA:10699] [KO:K09614]
H00293 Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive ... Cardiovascular disease hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVD1) TGFB3 [HSA:7043] [KO:K13377]
(ARVD2) RYR2 [HSA:6262] [KO:K04962]
(ARVD5) TMEM43 [HSA:79188] [KO:K27488]
(ARVD8) DSP [HSA:1832] [KO:K10381]
(ARVD9) PKP2 [HSA:5318] [KO:K12642]
(ARVD10) DSG2 [HSA:1829] [KO:K07597]
(ARVD11) DSC2 [HSA:1824] [KO:K07601]
(ARVD12) JUP [HSA:3728] [KO:K10056]
(ARVD13) CTNNA3 [HSA:29119] [KO:K05691]
(ARVD14) CDH2 [HSA:1000] [KO:K06736]
H00299 Shigellosis
Bacillary dysentery 		... flexneri is the most frequently observed worldwide, and S. dysenteriae causes severe disease with the highest fatality rate. Transmission usually occurs via contaminated food and water or through person-to-person ... Bacterial infectious disease hsa05131 Shigellosis
H00304 Haemophilus influenzae infection ... of Hib infection depends on the patient's age, and infants between 4 months and 1 year of age are at highest risk for meningitis. Invasive disease due to Hib may produce various clinical syndromes including ... Bacterial infectious disease
H00311 Legionellosis
Legionnaires disease 		... illness that involves the lungs, causing pneumonia, and can cause neurological symptoms, diarrhea and high mortality (up to 50%), and Pontiac fever, with a shorter incubation period of 1-2 days, which is ... Bacterial infectious disease hsa05134 Legionellosis TLR5 [HSA:7100] [KO:K10168]
H00313 Multidrug-resistant Pseudomonas aeruginosa infection ... severe invasive diseases in critically ill patients. In the 21st century, when the life expectancy of highly susceptible immunocompromised groups has been extended in most countries, P. aeruginosa plays an ... Bacterial infectious disease
H00319 Pertussis
Whooping cough 		Pertussis, or whooping cough, caused by the gram-negative bacillus Bordetella pertussis, is a highly contagious, acute respiratory disease of humans. Despite high vaccination rates, this illness has re-emerged ... Bacterial infectious disease hsa05133 Pertussis
H00323 Spotted fever
Tick-borne rickettsioses 		... the spotted fever group (SFG) of the genus Rickettsia within the family Rickettsiaceae in the order Rickettsiales. The diseases present with high fever, an inoculation eschar, and a maculopapular rash. Bacterial infectious disease
H00325 Brucellosis ... Africa, and western Asia. Consumption of contaminated foods is the sources of infection. The clinical presentation can vary from asymptomatic infection to a fever, night sweats, and joint manifestations. Bacterial infectious disease
H00327 Trench fever ... World War II, but recently it reemerged in urban homeless populations of developed countries. The most frequent presentation of trench fever includes repeated cycles of high fever, headache, and dizziness. Bacterial infectious disease
H00330 Methicillin-resistant Staphylococcal aureus (MRSA) infection ... originating in the hospital. Its increase in the community is of concern because CA-MRSA strains appear to be highly virulent, and colonization with CA-MRSA is often undetected in hospitalized patients, which can ... Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H00332 Listeriosis Listeriosis is a severe foodborne infection with a high case fatality rate caused by Listeria monocytogenes. High-risk groups for listeriosis include elderly and immunocompromised patients, pregnant women ... Bacterial infectious disease
H00337 Tetanus ... tetani, a gram-positive bacterium, through cuts or wounds. Mortality rate among untreated patients is high. Tetanus affects the muscles and nerves and manifests as muscle spasms in the jaw (lockjaw). Tetanus ... Bacterial infectious disease
H00340 Vancomycin-resistant enterococci infection ... antimicrobial-resistant pathogens globally, causing bacteremia with or without endocarditis, and intra-abdominal, wound, and genitourinary infection in immunocompromised patients. The mortality rate is high. Bacterial infectious disease
H00350 Psittacosis
Parrot fever 		... intracellular bacterium that is usually transmitted to humans from birds. Symptoms typically include high fevers, headache, myalgias, and a nonproductive cough. Although pneumonia is the most common manifestation ... Bacterial infectious disease
H00352 Whipple disease ... gastrointestinal system can be the major manifestations. Patients without symptoms of gastrointestinal disease might be insufficiently treated, resulting in a potentially fatal outcome such as endocarditis, neurological ... Bacterial infectious disease
H00360 Amoebiasis ... an extracellular parasitic protozoan. People living in Central and South America and Africa are at highest risk of infection. Although the majority of individuals infected with E. histolytica remain asymptomatic ... Parasitic infectious disease hsa05146 Amoebiasis
H00391 Henipavirus infection ... Nipah virus are members of a new genus, Henipavirus, in the emerging family Paramyxoviridae. They are bat-borne paramyxoviruses which are responsible for severe disease with high mortality rates (50-100%). Viral infectious disease
H00394 Measles Measles is a highly contagious infectious disease caused by the measles virus, a morbillivirus in the Paramyxoviridae family of -ssRNA viruses. The disease may have existed for thousands of years. The ... Viral infectious disease hsa05162 Measles
H00398 Influenza ... caused by three types of influenza viruses: influenza A, B, and C. Influenza A and B viruses cause highly contagious diseases whereas influenza C virus causes only mild upper respiratory tract illness ... Viral infectious disease hsa05164 Influenza A
H00399 Avian influenza
Bird flu
H5N1 flu 		... caused sporadic infections in humans, mostly as a result of direct contact with infected birds. H5N1 high pathogenicity avian influenza virus causes a rapid onset of severe viral pneumonia and is highly ... Viral infectious disease hsa05164 Influenza A
H00403 Disorders of nucleotide excision repair ... mutations in XPA, ERCC3/XPB, XPC, ERCC2/XPD, DDB2/XPE, ERCC4/XPF, ERCC5/XPG and POLH. XP is classified into eight genetic complementation groups by the present. In this inside, 7 groups from the XP-A group to the ... Congenital malformation (XPA) XPA [HSA:7507] [KO:K10847]
(XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843]
(XPC) XPC [HSA:7508] [KO:K10838]
(XPD, TTD) ERCC2 [HSA:2068] [KO:K10844]
(XPE) DDB2 [HSA:1643] [KO:K10140]
(XPE-2) DDB1 [HSA:1642] [KO:K10610]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846]
(XPV) POLH [HSA:5429] [KO:K03509]
(CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841]
(TTD) GTF2H5 [HSA:404672] [KO:K10845]
(COFS4) ERCC1 [HSA:2067] [KO:K10849]
H00407 Peroxisomal beta-oxidation enzyme deficiency ... one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system includes straight-chain acyl-CoA oxidase (ACOX1), 2-methylacyl CoA racemase (AMACR), D-bifunctional protein (DBP) ... Inherited metabolic disorder ACOX1 [HSA:51] [KO:K00232]
HSD17B4 [HSA:3295] [KO:K12405]
AMACR [HSA:23600] [KO:K01796]
SCP2 [HSA:6342] [KO:K08764]
H00408 Type 1 diabetes mellitus ... and symptoms can come on quickly and may include increased thirst and frequent urination, fatigue, weight loss and so on. It is recognized that both genetic and environmental determinants are important ... Metabolic disease; Immune system disease; Endocrine disease hsa04940 Type I diabetes mellitus (T1D2) INS [HSA:3630] [KO:K04526]
(T1D5) SUMO4 [HSA:387082] [KO:K12160]
(T1D10) IL2RA [HSA:3559] [KO:K05068]
(T1D12) CTLA4 [HSA:1493] [KO:K06538]
(T1D20) HNF1A [HSA:6927] [KO:K08036]
(T1D22) CCR5 [HSA:1234] [KO:K04180]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
PTPN22 [HSA:26191] [KO:K18024]
PTPN2 [HSA:5771] [KO:K18026]
ERBB3 [HSA:2065] [KO:K05084]
IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434]
IFIH1 [HSA:64135] [KO:K12647]
CLEC16A [HSA:23274] [KO:K19513]
BACH2 [HSA:60468] [KO:K09042]
CTSH [HSA:1512] [KO:K01366]
SH2B3 [HSA:10019] [KO:K12459]
C12orf30 [HSA:80018] [KO:K17973]
CD226 [HSA:10666] [KO:K06567]
ITPR3 [HSA:3710] [KO:K04960]
CYP27B1 [HSA:1594] [KO:K07438]
H00412 Hepatitis B
Hepatitis B virus (HBV) infection 		... The risk of developing chronic hepatitis B is directly related to the age of first infection, much higher for infants. Chronic hepatitis B may eventually lead to cirrhosis and hepatocellular carcinoma Viral infectious disease hsa05161 Hepatitis B IFNAR2 (susceptibility) [HSA:3455] [KO:K05131]
IFNGR1 (susceptibility) [HSA:3459] [KO:K05132]
IL10RB (susceptibility) [HSA:3588] [KO:K05135]
H00450 Worth type autosomal dominant osteosclerosis
Endosteal hyperostosis 		... dominant osteosclerosis, also known as endosteal hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease is caused by missense ... Congenital malformation LRP5 [HSA:4041] [KO:K03068]
H00473 Mitochondrial complex I deficiency Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... Inherited metabolic disorder, Mitochondrial disease (MC1DN1) NDUFS4 [HSA:4724] [KO:K03937]
(MC1DN2) NDUFS8 [HSA:4728] [KO:K03941]
(MC1DN3) NDUFS7 [HSA:374291] [KO:K03940]
(MC1DN4) NDUFV1 [HSA:4723] [KO:K03942]
(MC1DN5) NDUFS1 [HSA:4719] [KO:K03934]
(MC1DN6) NDUFS2 [HSA:4720] [KO:K03935]
(MC1DN7) NDUFV2 [HSA:4729] [KO:K03943]
(MC1DN8) NDUFS3 [HSA:4722] [KO:K03936]
(MC1DN9) NDUFS6 [HSA:4726] [KO:K03939]
(MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160]
(MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159]
(MC1DN12) NDUFA1 [HSA:4694] [KO:K03945]
(MC1DN13) NDUFA2 [HSA:4695] [KO:K03946]
(MC1DN14) NDUFA11 [HSA:126328] [KO:K03956]
(MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161]
(MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162]
(MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163]
(MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008]
(MC1DN19) FOXRED1 [HSA:55572] [KO:K18166]
(MC1DN20) ACAD9 [HSA:28976] [KO:K15980]
(MC1DN21) NUBPL [HSA:80224] [KO:K03593]
(MC1DN22) NDUFA10 [HSA:4705] [KO:K03954]
(MC1DN23) NDUFA12 [HSA:55967] [KO:K11352]
(MC1DN24) NDUFB9 [HSA:4715] [KO:K03965]
(MC1DN25) NDUFB3 [HSA:4709] [KO:K03959]
(MC1DN26) NDUFA9 [HSA:4704] [KO:K03953]
(MC1DN27) MTFMT [HSA:123263] [KO:K00604]
(MC1DN28) NDUFA13 [HSA:51079] [KO:K11353]
(MC1DN29) TMEM126B [HSA:55863] [KO:K18165]
(MC1DN30) NDUFB11 [HSA:54539] [KO:K11351]
(MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505]
(MC1DN32) NDUFB8 [HSA:4714] [KO:K03964]
(MC1DN33) NDUFA6 [HSA:4700] [KO:K03950]
(MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726]
(MC1DN35) NDUFB10 [HSA:4716] [KO:K03966]
(MC1DN36) NDUFC2 [HSA:4718] [KO:K03968]
(MC1DN37) NDUFA8 [HSA:4702] [KO:K03952]
(MC1DN39) NDUFB7 [HSA:4713] [KO:K03963]
ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND3 [HSA:4537] [KO:K03880]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
H00494 Desbuquois syndrome
Desbuquois dysplasia (DBQD) 		Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated ... Congenital malformation (DBQD1) CANT1 [HSA:124583] [KO:K12304]
(DBQD2) XYLT1 [HSA:64131] [KO:K00771]
H00501 Fibrous dysplasia, polyostotic
McCune-Albright syndrome
Albright hereditary osteodystrophy 		Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of ... Congenital malformation GNAS [HSA:2778] [KO:K04632]
H00527 Retinitis pigmentosa ... group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The ... Nervous system disease (RP1) RP1 [HSA:6101] [KO:K19538]
(RP2) RP2 [HSA:6102] [KO:K18272]
(RP3/RP15) RPGR [HSA:6103] [KO:K19607]
(RP4) RHO [HSA:6010] [KO:K04250]
(RP7) PRPH2 [HSA:5961] [KO:K17343]
(RP7) ROM1 [HSA:6094] [KO:K17344]
(RP9) RP9 [HSA:6100] [KO:K19604]
(RP10) IMPDH1 [HSA:3614] [KO:K00088]
(RP11) PRPF31 [HSA:26121] [KO:K12844]
(RP12) CRB1 [HSA:23418] [KO:K16681]
(RP13) PRPF8 [HSA:10594] [KO:K12856]
(RP14) TULP1 [HSA:7287] [KO:K19600]
(RP17) CA4 [HSA:762] [KO:K18246]
(RP18) PRPF3 [HSA:9129] [KO:K12843]
(RP19) ABCA4 [HSA:24] [KO:K05644]
(RP20/87) RPE65 [HSA:6121] [KO:K11158]
(RP23) OFD1 [HSA:8481] [KO:K16480]
(RP25) EYS [HSA:346007] [KO:K19601]
(RP26) CERKL [HSA:375298] [KO:K19602]
(RP27) NRL [HSA:4901] [KO:K09038]
(RP28) FAM161A [HSA:84140] [KO:K16772]
(RP30) FSCN2 [HSA:25794] [KO:K17455]
(RP31) TOPORS [HSA:10210] [KO:K10631]
(RP32) CLCC1 [HSA:23155] [KO:K22188]
(RP33) SNRNP200 [HSA:23020] [KO:K12854]
(RP35) SEMA4A [HSA:64218] [KO:K06521]
(RP36) PRCD [HSA:768206] [KO:K19637]
(RP37) NR2E3 [HSA:10002] [KO:K08546]
(RP38) MERTK [HSA:10461] [KO:K05117]
(RP39) USH2A [HSA:7399] [KO:K19636]
(RP40) PDE6B [HSA:5158] [KO:K13756]
(RP41) PROM1 [HSA:8842] [KO:K06532]
(RP42) KLHL7 [HSA:55975] [KO:K10445]
(RP43) PDE6A [HSA:5145] [KO:K08718]
(RP44) RGR [HSA:5995] [KO:K04254]
(RP45) CNGB1 [HSA:1258] [KO:K04952]
(RP46) IDH3B [HSA:3420] [KO:K00030]
(RP47/RP96) SAG [HSA:6295] [KO:K19627]
(RP48) GUCA1B [HSA:2979] [KO:K08328]
(RP49) CNGA1 [HSA:1259] [KO:K04948]
(RP50) BEST1 [HSA:7439] [KO:K13878]
(RP54) PCARE [HSA:388939] [KO:K24165]
(RP55) ARL6 [HSA:84100] [KO:K07951]
(RP56) IMPG2 [HSA:50939] [KO:K19017]
(RP57) PDE6G [HSA:5148] [KO:K13759]
(RP58) ZNF513 [HSA:130557] [KO:K24373]
(RP59) DHDDS [HSA:79947] [KO:K11778]
(RP60) PRPF6 [HSA:24148] [KO:K12855]
(RP61) CLRN1 [HSA:7401] [KO:K23841]
(RP62) MAK [HSA:4117] [KO:K08829]
(RP64) CFAP418 [HSA:157657] [KO:K25226]
(RP66) RBP3 [HSA:5949] [KO:K23911]
(RP67) NEK2 [HSA:4751] [KO:K20872]
(RP68) SLC7A14 [HSA:57709] [KO:K13871]
(RP69) KIZ [HSA:55857] [KO:K16539]
(RP70) PRPF4 [HSA:9128] [KO:K12662]
(RP71) IFT172 [HSA:26160] [KO:K19676]
(RP72) ZNF408 [HSA:79797] [KO:K24372]
(RP73) HGSNAT [HSA:138050] [KO:K10532]
(RP74) BBS2 [HSA:583] [KO:K16747]
(RP75) AGBL5 [HSA:60509] [KO:K23438]
(RP76) POMGNT1 [HSA:55624] [KO:K09666]
(RP77) REEP6 [HSA:92840] [KO:K17279]
(RP78) ARHGEF18 [HSA:23370] [KO:K21066]
(RP79) HK1 [HSA:3098] [KO:K00844]
(RP80) IFT140 [HSA:9742] [KO:K19672]
(RP81) IFT43 [HSA:112752] [KO:K19675]
(RP82) ARL2BP [HSA:23568] [KO:K16742]
(RP83) ARL3 [HSA:403] [KO:K07944]
(RP84) DHX38 [HSA:9785] [KO:K12815]
(RP85) AHR [HSA:196] [KO:K09093]
(RP86) RP86 [HSA:57670]
(RP88) RP1L1 [HSA:94137] [KO:K19538]
(RP89) KIF3B [HSA:9371] [KO:K20196]
(RP90) IDH3A [HSA:3419] [KO:K00030]
(RP91) IMPG1 [HSA:3617] [KO:K19016]
(RP92) HKDC1 [HSA:80201] [KO:K00844]
(RP93) CC2D2A [HSA:57545] [KO:K19352]
(RP94) SPATA7 [HSA:55812] [KO:K19655]
(RP95) RAX2 [HSA:84839] [KO:K09333]
(RP97) VWA8 [HSA:23078] [KO:K24512]
(Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625]
H00546 Atrial septal defect Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that ... Congenital malformation (ASD2) GATA4 [HSA:2626] [KO:K09183]
(ASD3) MYH6 [HSA:4624] [KO:K17751]
(ASD4) TBX20 [HSA:57057] [KO:K10185]
(ASD5) ACTC1 [HSA:70] [KO:K12314]
(ASD6) TLL1 [HSA:7092] [KO:K09608]
(ASD7) NKX2-5 [HSA:1482] [KO:K09345]
(ASD8) CITED2 [HSA:10370] [KO:K21361]
(ASD9) GATA6 [HSA:2627] [KO:K17897]
H00549 Tetralogy of Fallot ... 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 altered ... 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]
H00550 Complete transposition of the great arteries ... atrioventricular concordance and ventriculoarterial discordance in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle, resulting in severe ... Congenital malformation CFC1 [HSA:55997] [KO:K25454]
GDF1 [HSA:2657] [KO:K05495]
H00561 Brachydactyly-mental retardation syndrome
Chromosome 2q37 deletion syndrome 		Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism ... Chromosomal abnormality HDAC4 [HSA:9759] [KO:K11406]
H00564 Primary ciliary dyskinesia ... bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in the left-right organization of the internal organ positioning, which is caused by dysfunctional nodal cilia 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]
H00568 Myotonic dystrophy ... receptor (INSR), resulting in their shared myotonia and insulin resistance. Affected individuals express highly heterogeneous, multisystemic symptoms including myotonia (muscle hyperexcitability), progressive ... Nervous system disease; Musculoskeletal disease (DM1) DMPK [HSA:1760] [KO:K08788]
(DM2) CNBP [HSA:7555] [KO:K09250]
41 to 80 of 359 Prev 1 2 3 4 5 6 7 ... 9 Next
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