Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder), C0410173
Source: ALL
Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
TP53 | P04637 | tumor protein p53 | Transcription factor | 0.53 | 0.236 | 0.962 |
BCL2 | P10415 | BCL2 apoptosis regulator | Signaling | 0.56 | 0.291 | 0.885 |
DMD | P11532 | dystrophin | 1.00 | 0.423 | 0.923 | |
GJB2 | P29033 | gap junction protein beta 2 | Cell-cell junction | 6.6E-16 | 0.441 | 0.846 |
GJB6 | O95452 | gap junction protein beta 6 | Cell-cell junction | 1.7E-07 | 0.528 | 0.808 |
SULT1E1 | P49888 | sulfotransferase family 1E member 1 | 2.0E-07 | 0.508 | 0.808 | |
MAP3K8 | P41279 | mitogen-activated protein kinase kinase kinase 8 | Kinase | 0.97 | 0.516 | 0.846 |
LAMA2 | P24043 | laminin subunit alpha 2 | Enzyme modulator | 2.4E-47 | 0.553 | 0.692 |
UTRN | P46939 | utrophin | 1.0E-19 | 0.525 | 0.692 | |
DYSF | O75923 | dysferlin | Transporter | 3.7E-33 | 0.582 | 0.692 |
CAPN3 | P20807 | calpain 3 | Enzyme | 3.6E-19 | 0.564 | 0.615 |
SGCA | Q16586 | sarcoglycan alpha | Calcium-binding protein | 2.7E-03 | 0.592 | 0.654 |
SGCG | Q13326 | sarcoglycan gamma | Cellular structure | 4.8E-05 | 0.621 | 0.615 |
SSPN | Q14714 | sarcospan | 4.0E-02 | 0.716 | 0.462 |