| Disease ID | Disease name | Source of annotation with CHRNA1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 253290 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | CHRNG, CHRNA1, CHRND |
| 236750 | HYDROPS FETALIS, NONIMMUNE | ClinVar | link to OMIM | 11 | MYOM1, NEU1, FZD6, DNAH14, NEB, THSD1, UBN1, CHRNA1, GALNT14, PIGC, GUSB |
| PS601462 | MYASTHENIC SYNDROME, CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 23 | LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Neuroactive ligand-receptor interaction | hsa04080 | 4.58 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Acetylcholine Binding And Downstream Events | R-HSA-181431 | 9.18 |
| Activation of Nicotinic Acetylcholine Receptors | R-HSA-629602 | 9.18 |
| Highly calcium permeable nicotinic acetylcholine receptors | R-HSA-629597 | 9.81 |
| Highly calcium permeable postsynaptic nicotinic acetylcholine receptors | R-HSA-629594 | 9.52 |
| Postsynaptic nicotinic acetylcholine receptors | R-HSA-622327 | 9.18 |
| Presynaptic nicotinic acetylcholine receptors | R-HSA-622323 | 9.4 |
| Neuronal System | R-HSA-112316 | 4.82 |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell | R-HSA-112314 | 5.85 |
| Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation channel activity | GO:0005261 | 4.04 |
| acetylcholine receptor activity | GO:0015464 | 6.3 |
| molecular transducer activity | GO:0060089 | 2.32 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| signaling receptor activity | GO:0038023 | 2.49 |
| ammonium ion binding | GO:0070405 | 5.81 |
| ligand-gated ion channel activity | GO:0015276 | 4.8 |
| ion binding | GO:0043167 | 1.36 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| extracellular ligand-gated ion channel activity | GO:0005230 | 5.42 |
| neurotransmitter receptor activity | GO:0030594 | 5.5 |
| excitatory extracellular ligand-gated ion channel activity | GO:0005231 | 5.73 |
| cation binding | GO:0043169 | 1.4 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| acetylcholine binding | GO:0042166 | 6.56 |
| neurotransmitter binding | GO:0042165 | 6.34 |
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| acetylcholine-activated cation-selective channel activity | GO:0004889 | 6.65 |
| gated channel activity | GO:0022836 | 3.96 |
| ligand-gated channel activity | GO:0022834 | 4.8 |
| substrate-specific channel activity | GO:0022838 | 3.67 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| receptor activity | GO:0004872 | 2.32 |