Abnormality on pulmonary function testing (HP:0030878)
Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.
Synonyms: Abnormal pulmonary function test, Abnormal spirometry test
Pubmed References: PMID:22347750 , PMID:24695507
Cross References: UMLS:C4280728
KEGG Pathway
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | Neuroactive ligand-receptor interaction | 0.00001608 | 0.0001608 | 38.88 | 429.14 |
| 2 | Primary immunodeficiency | 0.01884 | 0.07259 | 59.92 | 237.98 |
| 3 | Autoimmune thyroid disease | 0.02619 | 0.07259 | 42.60 | 155.17 |
| 4 | B cell receptor signaling pathway | 0.03978 | 0.07259 | 27.65 | 89.16 |
| 5 | Rheumatoid arthritis | 0.04555 | 0.07259 | 24.03 | 74.23 |
GO: Biological Process
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | synaptic transmission, cholinergic (GO:0007271) | 8.685e-8 | 0.000003648 | 535.02 | 8698.92 |
| 2 | neuromuscular junction development (GO:0007528) | 1.812e-7 | 0.000004033 | 407.53 | 6326.45 |
| 3 | negative regulation of regulatory T cell differentiation (GO:0045590) | 0.002498 | 0.01614 | 555.17 | 3326.77 |
| 4 | neuromuscular process (GO:0050905) | 0.00003830 | 0.0003971 | 293.72 | 2987.15 |
| 5 | postsynaptic membrane organization (GO:0001941) | 0.00003830 | 0.0003971 | 293.72 | 2987.15 |
GO: Molecular Function
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential (GO:0099529) | 1.878e-10 | 4.131e-9 | 783.25 | 17541.62 |
| 2 | transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential (GO:1904315) | 8.580e-10 | 9.438e-9 | 511.90 | 10686.61 |
| 3 | transmitter-gated ion channel activity (GO:0022824) | 1.451e-9 | 1.064e-8 | 443.56 | 9026.96 |
| 4 | postsynaptic neurotransmitter receptor activity (GO:0098960) | 1.191e-7 | 6.068e-7 | 475.52 | 7581.26 |
| 5 | acetylcholine receptor activity (GO:0015464) | 1.379e-7 | 6.068e-7 | 450.47 | 7115.97 |
GO: Cellular Component
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | neuromuscular junction (GO:0031594) | 4.712e-12 | 5.183e-11 | 604.76 | 15772.67 |
| 2 | acetylcholine-gated channel complex (GO:0005892) | 3.267e-8 | 1.198e-7 | 778.40 | 13417.28 |
| 3 | ion channel complex (GO:0034702) | 5.841e-7 | 0.000001606 | 267.29 | 3836.51 |
| 4 | integral component of plasma membrane (GO:0005887) | 3.020e-8 | 1.198e-7 | 51.30 | 888.24 |
| 5 | voltage-gated sodium channel complex (GO:0001518) | 0.008469 | 0.01553 | 138.71 | 661.82 |
Hub genes & FDA repurposed drugs
| Hub Genes (ranked) | FDA-Approved repurposed drugs |
| RAPSN | – |
| CHRNA1 | – |
| DOK7 | – |
| MUSK | – |
| SCN4A | LEVOBUPIVACAINE HYDROCHLORIDE, BUPIVACAINE HYDROCHLORIDE |
| CHRND | SUCCINYLCHOLINE CHLORIDE, PIPECURONIUM BROMIDE, MIVACURIUM CHLORIDE, METOCURINE IODIDE, DOXACURIUM CHLORIDE, VECURONIUM BROMIDE, DECAMETHONIUM BROMIDE |
| CHRNB1 | SUCCINYLCHOLINE CHLORIDE, PIPECURONIUM BROMIDE, MIVACURIUM CHLORIDE, METOCURINE IODIDE, DOXACURIUM CHLORIDE, VECURONIUM BROMIDE, DECAMETHONIUM BROMIDE |
| CHRNE | SUCCINYLCHOLINE CHLORIDE, PIPECURONIUM BROMIDE, MIVACURIUM CHLORIDE, METOCURINE IODIDE, DOXACURIUM CHLORIDE, VECURONIUM BROMIDE, DECAMETHONIUM BROMIDE |
| CTLA4 | IPILIMUMAB, ABATACEPT |
| CD19 | BLINATUMOMAB |
