Abnormal heart morphology (HP:0001627)
Any structural anomaly of the heart.
Synonyms: Abnormality of the heart, Heart defect, Abnormally shaped heart, Abnormality of cardiac morphology, Cardiac abnormality, Cardiac anomalies, Cardiac anomaly, Congenital heart defect, Congenital heart defects
Cross References: MSH:D006330, SNOMEDCT_US:13213009, UMLS:C0018798, UMLS:C0152021
KEGG Pathway
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | Huntington disease | 0.1429 | 0.2137 | 7.17 | 13.95 |
| 2 | Amyotrophic lateral sclerosis | 0.1678 | 0.2137 | 6.01 | 10.72 |
| 3 | Pathways of neurodegeneration | 0.2137 | 0.2137 | 4.57 | 7.06 |
GO: Biological Process
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | axoneme assembly (GO:0035082) | 3.163e-15 | 1.170e-13 | 1069.39 | 35704.16 |
| 2 | regulation of cilium movement (GO:0003352) | 1.078e-8 | 9.972e-8 | 1223.45 | 22444.87 |
| 3 | axonemal dynein complex assembly (GO:0070286) | 1.893e-12 | 3.501e-11 | 739.37 | 19957.87 |
| 4 | determination of digestive tract left/right asymmetry (GO:0071907) | 0.000004719 | 0.00001940 | 999.25 | 12254.80 |
| 5 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 0.000008085 | 0.00002991 | 713.68 | 8368.26 |
GO: Molecular Function
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | microtubule motor activity (GO:0003777) | 0.02766 | 0.04878 | 40.27 | 144.50 |
| 2 | motor activity (GO:0003774) | 0.03252 | 0.04878 | 34.06 | 116.68 |
| 3 | protein homodimerization activity (GO:0042803) | 0.2762 | 0.2762 | 3.39 | 4.36 |
GO: Cellular Component
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | outer dynein arm (GO:0036157) | 0.004492 | 0.01497 | 277.53 | 1500.17 |
| 2 | motile cilium (GO:0031514) | 0.0005036 | 0.002518 | 75.47 | 573.09 |
| 3 | cilium (GO:0005929) | 0.0001854 | 0.001854 | 36.18 | 310.92 |
| 4 | sperm flagellum (GO:0036126) | 0.02570 | 0.05629 | 43.44 | 159.04 |
| 5 | 9+2 motile cilium (GO:0097729) | 0.02814 | 0.05629 | 39.55 | 141.22 |
Hub genes as predicted biomarkers & FDA approved drugs
| Hub Genes (ranked) | FDA-Approved Drugs |
| DRC1 | – |
| CCDC65 | – |
| HYDIN | – |
| RSPH4A | – |
| RSPH1 | – |
| CCDC103 | – |
| HEATR2 | – |
| DYX1C1 | – |
| DNAI2 | – |
| CCDC40 | – |
