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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) | Congenital nongoitrous hypothyroidism (CHNG) is characterized as resistance to thyroid-stimulating hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential ... | Endocrine and metabolic disease |
(CHNG1) TSHR [HSA:7253] [KO:K04249] (CHNG2) PAX8 [HSA:7849] [KO:K09293] (CHNG4) TSHB [HSA:7252] [KO:K05251] (CHNG5) NKX2-5 [HSA:1482] [KO:K09345] (CHNG6) THRA [HSA:7067] [KO:K05547] (CHNG7) TRHR [HSA:7201] [KO:K04282] (CHNG8) TBL1X [HSA:6907] [KO:K04508] (CHNG9) IRS4 [HSA:8471] [KO:K17446] |
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| 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] |
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| 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] |
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| H00918 | Double-outlet right ventricle | Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal ... | Cardiovascular disease |
NKX2-5 [HSA:1482] [KO:K09345] CFC1 [HSA:55997] [KO:K25454] GDF1 [HSA:2657] [KO:K05495] |
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| H01272 | Hypoplastic left heart syndrome | ... mitral and aortic valves. There is now strong evidence implicating multiple genetic loci for HLHS. Potential mutations in at least 4 genes, GJA1, NKX2-5, NOTCH1, and HAND1, have been associated with HLHS. | Congenital malformation |
GJA1 [HSA:2697] [KO:K07372] NKX2-5 [HSA:1482] [KO:K09345] HAND1 [HSA:9421] [KO:K09071] |
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| H01926 | Ventricular septal defect | Ventricular septal defect (VSD) is the most common type of cardiovascular developmental anomaly and is an important risk factor for the substantially increased morbidity and mortality in newborns. Congenital ... | Cardiovascular disease |
(VSD1) GATA4 [HSA:2626] [KO:K09183] (VSD2) CITED2 [HSA:10370] [KO:K21361] (VSD3) NKX2-5 [HSA:1482] [KO:K09345] |
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