| GENE NAME | PDGFRA |
| CHROMOSOME | 4 |
| ENSEMBL ID | ENSG00000134853 |
| ENTREZ ID | 5156 |
| UNIPROT ACCESSION NUMBER | P16234 |
| GO MOLECULAR FUNCTION | protein kinase activity; transmembrane receptor protein tyrosine kinase activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1257604; R-HSA-9006925; R-HSA-9673767; R-HSA-5673001; R-HSA-9674415; R-HSA-6811558; hsa04014; R-HSA-5683057; R-HSA-9674396; R-HSA-9674401; hsa05214; hsa04630; hsa05163; hsa05215; R-HSA-9674428; hsa04510; hsa04810; hsa05231; R-HSA-2219528; R-HSA-9674403; hsa04144; R-HSA-186763; R-HSA-2219530; hsa01521; hsa04151; hsa05206; hsa05230; R-HSA-1643685; hsa05218; hsa04015; hsa04072; R-HSA-199418; R-HSA-9671555; R-HSA-9006934; R-HSA-9673770; hsa04540; hsa04010; R-HSA-5684996; hsa04020; R-HSA-9674404; R-HSA-162582; R-HSA-186797; R-HSA-5663202; hsa05200 |
| 2 combinations linked to PDGFRA | OLI720; OLI691 |
| 2 variants linked to PDGFRA | PDGFRA:c.3029_3030delAG, p.Arg1011ThrfsTer4; PDGFRA:c.236G>A, p.Gly79Asp |
| 1 disease linked to PDGFRA | Isolated anencephaly |