Disease ID | Disease name | Source of annotation with BSCL2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
600794 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | BSCL2, GARS |
PS303350 | SPASTIC PARAPLEGIA | OMIM, HUMSAVAR | 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 |
615924 | ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY | ClinVar, OMIM | link to OMIM | 1 | BSCL2 |
PS608594 | LIPODYSTROPHY, CONGENITAL GENERALIZED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | BSCL2, PTRF, AGPAT2, CAV1 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |