Skeletal muscle atrophy (HP:0003202)
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Synonyms: Muscle wasting, Muscle degeneration, Amyotrophy, Amyotrophy involving the extremities, Muscle atrophy, Muscle atrophy, neurogenic, Muscle hypotrophy, Muscular atrophy, Neurogenic muscle atrophy, Neurogenic muscle atrophy, especially in the lower limbs, Neurogenic muscular atrophy
Cross References: MSH:D009133, SNOMEDCT_US:74035001, UMLS:C0234958, UMLS:C0270948, UMLS:C0541794, UMLS:C1843479
GO: Biological Process
Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
1 | cilium assembly (GO:0060271) | 5.098e-16 | 3.772e-14 | 580.87 | 20453.89 |
2 | pigment granule transport (GO:0051904) | 7.315e-8 | 9.022e-7 | 570.71 | 9377.24 |
3 | melanosome transport (GO:0032402) | 7.315e-8 | 9.022e-7 | 570.71 | 9377.24 |
4 | establishment of melanosome localization (GO:0032401) | 8.685e-8 | 9.181e-7 | 535.02 | 8698.92 |
5 | melanosome localization (GO:0032400) | 1.191e-7 | 0.000001102 | 475.52 | 7581.26 |
GO: Molecular Function
Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
1 | patched binding (GO:0005113) | 0.003495 | 0.006990 | 370.07 | 2093.27 |
2 | RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629) | 1.780e-8 | 8.402e-8 | 107.05 | 1910.30 |
3 | DNA-binding transcription factor binding (GO:0140297) | 2.801e-8 | 8.402e-8 | 97.47 | 1695.14 |
4 | phosphatidylinositol-3-phosphate binding (GO:0032266) | 0.01933 | 0.02900 | 58.34 | 230.20 |
5 | phosphatidylinositol phosphate binding (GO:1901981) | 0.04986 | 0.05983 | 21.88 | 65.61 |
GO: Cellular Component
Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
1 | motile cilium (GO:0031514) | 0.03349 | 0.06698 | 33.04 | 112.22 |
2 | neuron projection (GO:0043005) | 0.02994 | 0.06698 | 8.77 | 30.77 |
3 | cilium (GO:0005929) | 0.1124 | 0.1276 | 9.30 | 20.33 |
4 | cell-cell junction (GO:0005911) | 0.1276 | 0.1276 | 8.12 | 16.71 |
Hub genes predicted as biomarkers & predicted FDA approved drugs
Hub Genes (ranked) | FDA-Approved Drugs |
BBS5 | – |
BBS7 | – |
BBS1 | – |
LZTFL1 | – |
BBS2 | – |
BBS10 | – |
WDPCP | – |
BBS12 | – |
MKS1 | – |
SDCCAG8 | – |