Disease ID | Disease name | Source of annotation with FAM126A | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS312080 | LEUKODYSTROPHY, HYPOMYELINATING | ClinVar, OMIM, HUMSAVAR | link to OMIM | 13 | PYCR2, POLR3A, HIKESHI, AIMP1, RARS, POLR3B, VPS11, PLP1, HSPD1, POLR1C, FAM126A, GJC2, TUBB4A |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
signal transducer activity | GO:0004871 | 2.28 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |