Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder), C0410173
Source: ALL
Gene | UniProt | Gene Full Name | Protein Class | N. diseases g | DSI g | DPI g | pLI | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
O75923 | dysferlin | Transporter | 144 | 0.582 | 0.692 | 3.7E-33 | 0.020 | None | 1.000 | 2 | 0 | 1999 | 2018 | ||||
|
O95452 | gap junction protein beta 6 | Cell-cell junction | 176 | 0.528 | 0.808 | 1.7E-07 | 0.010 | None | 1.000 | 1 | 0 | 1995 | 1995 | ||||
|
P04637 | tumor protein p53 | Transcription factor | 2494 | 0.236 | 0.962 | 0.53 | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||
|
P10415 | BCL2 apoptosis regulator | Signaling | 1456 | 0.291 | 0.885 | 0.56 | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||
|
P11532 | dystrophin | 484 | 0.423 | 0.923 | 1.00 | 0.070 | None | 1.000 | 7 | 1 | 1992 | 2000 | |||||
|
P20807 | calpain 3 | Enzyme | 137 | 0.564 | 0.615 | 3.6E-19 | 0.010 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||
|
P24043 | laminin subunit alpha 2 | Enzyme modulator | 167 | 0.553 | 0.692 | 2.4E-47 | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||
|
P29033 | gap junction protein beta 2 | Cell-cell junction | 392 | 0.441 | 0.846 | 6.6E-16 | 0.010 | None | 1.000 | 1 | 0 | 1995 | 1995 | ||||
|
P41279 | mitogen-activated protein kinase kinase kinase 8 | Kinase | 168 | 0.516 | 0.846 | 0.97 | 0.010 | None | 1.000 | 1 | 0 | 1995 | 1995 | ||||
|
P46939 | utrophin | 152 | 0.525 | 0.692 | 1.0E-19 | 0.010 | None | 1.000 | 1 | 0 | 1994 | 1994 | |||||
|
P49888 | sulfotransferase family 1E member 1 | 171 | 0.508 | 0.808 | 2.0E-07 | 0.010 | None | 1.000 | 1 | 0 | 1995 | 1995 | |||||
|
Q13326 | sarcoglycan gamma | Cellular structure | 93 | 0.621 | 0.615 | 4.8E-05 | 1.000 | strong | 1.000 | 41 | 23 | 1995 | 2018 | ||||
|
Q14714 | sarcospan | 31 | 0.716 | 0.462 | 4.0E-02 | 0.010 | None | 1.000 | 1 | 0 | 2000 | 2000 | |||||
|
Q16586 | sarcoglycan alpha | Calcium-binding protein | 111 | 0.592 | 0.654 | 2.7E-03 | 0.060 | None | 1.000 | 6 | 0 | 1994 | 2000 |