Disease ID | Disease name | Source of annotation with PNPLA6 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
275400 | OLIVER-MCFARLANE SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PNPLA6 |
215470 | BOUCHER-NEUHAUSER SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PNPLA6 |
245800 | LAURENCE-MOON SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PNPLA6 |
PS303350 | SPASTIC PARAPLEGIA | ClinVar, 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 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glycerophospholipid metabolism | hsa00564 | 6.15 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
catalytic activity | GO:0003824 | 1.05 |
carboxylic ester hydrolase activity | GO:0052689 | 4.81 |
lysophospholipase activity | GO:0004622 | 6.69 |
phospholipase activity | GO:0004620 | 5.16 |
lipase activity | GO:0016298 | 4.96 |