| Disease ID | Disease name | Source of annotation with ATL1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS162400 | HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | DST, WNK1, NTRK1, PRDM12, DNMT1, IKBKAP, FAM134B, NGF, ATL1, KIF1A, SCN11A, ATL3, SPTLC2, SPTLC1 |
| PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ARL6IP1, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, VPS37A, L1CAM, TFG, RTN2, CYP7B1, ERLIN2, KIF1A, AP4M1, AMPD2, SPAST, SPG20, AP4S1, HSPD1, SPG21, PLP1, REEP1, ALDH18A1, TECPR2, BSCL2, PNPLA6, SPG7, CYP2U1, NT5C2, NIPA1, DDHD1, CPT1C, ZFYVE27, AP4B1, FA2H |
Download the gene annotation in CSV format
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| ion binding | GO:0043167 | 1.36 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| nucleoside binding | GO:0001882 | 2.21 |
| cation binding | GO:0043169 | 1.4 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| nucleotide binding | GO:0000166 | 1.96 |
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| metal ion binding | GO:0046872 | 1.41 |
| identical protein binding | GO:0042802 | 2.63 |
| GTP binding | GO:0005525 | 3.78 |
| hydrolase activity | GO:0016787 | 1.9 |
| GTPase activity | GO:0003924 | 4.31 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| guanyl nucleotide binding | GO:0019001 | 3.73 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |