Disease ID | Disease name | Source of annotation with CHAT | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
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 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Cholinergic synapse | hsa04725 | 5.88 |
Glycerophospholipid metabolism | hsa00564 | 6.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Synthesis of PC | R-HSA-1483191 | 8.73 |
Phospholipid metabolism | R-HSA-1483257 | 5.83 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Glycerophospholipid biosynthesis | R-HSA-1483206 | 6.46 |
Metabolism | R-HSA-1430728 | 2.34 |
Acetylcholine Neurotransmitter Release Cycle | R-HSA-264642 | 8.89 |
Neuronal System | R-HSA-112316 | 4.82 |
Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
Neurotransmitter Release Cycle | R-HSA-112310 | 7.34 |
GO term | GO ID | GO IC |
---|---|---|
choline O-acetyltransferase activity | GO:0004102 | 9.74 |
O-acetyltransferase activity | GO:0016413 | 7.79 |
cation binding | GO:0043169 | 1.4 |
acetyltransferase activity | GO:0016407 | 5.1 |
ion binding | GO:0043167 | 1.36 |
ammonium ion binding | GO:0070405 | 5.81 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
choline binding | GO:0033265 | 7.95 |
O-acyltransferase activity | GO:0008374 | 5.85 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
binding | GO:0005488 | 0.18 |