Disease ID | Disease name | Source of annotation with IBA57 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS605711 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | IBA57, ISCA2, NFU1, BOLA3 |
PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
organic cyclic compound binding | GO:0097159 | 1.05 |
poly(A) RNA binding | GO:0044822 | 2.69 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
heterocyclic compound binding | GO:1901363 | 1.06 |
RNA binding | GO:0003723 | 2.36 |