Source: CLINVAR ×
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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Q96JB1 | dynein axonemal heavy chain 8 | Enzyme | 2 | 0.556 | 0.731 | 1.1E-60 | 0.100 | None | 1.000 | 1 | 18 | 2014 | 2014 | ||||
|
DNAAF4-CCPG1 readthrough (NMD candidate) | 2 | 1.000 | 0.100 | None | 0 | 6 | |||||||||||
|
Q8WXU2 | dynein axonemal assembly factor 4 | 2 | 0.623 | 0.731 | 9.7E-10 | 0.100 | None | 0 | 6 | ||||||||
|
O75665 | OFD1 centriole and centriolar satellite protein | 23 | 0.510 | 0.808 | 0.96 | 0.100 | None | 0 | 4 | ||||||||
|
Q86X45 | leucine rich repeat containing 6 | 3 | 0.659 | 0.538 | 1.0E-10 | 0.100 | None | 0 | 5 | ||||||||
|
Q8WXX0 | dynein axonemal heavy chain 7 | Enzyme | 11 | 0.769 | 0.346 | 1.4E-71 | 0.100 | None | 0 | 1 | |||||||
|
P31321 | protein kinase cAMP-dependent type I regulatory subunit beta | 1 | 0.716 | 0.385 | 0.18 | 0.100 | None | 0 | 2 | ||||||||
|
Q96GN5 | cell division cycle associated 7 like | 2 | 0.686 | 0.615 | 1.8E-04 | 0.100 | None | 0 | 4 | ||||||||
|
D6RGH6 | multiciliate differentiation and DNA synthesis associated cell cycle protein | 2 | 0.566 | 0.769 | 1.3E-02 | 0.100 | None | 0 | 1 | ||||||||
|
Q9UM22 | ependymin related 1 | 2 | 0.769 | 0.308 | 1.8E-02 | 0.100 | None | 0 | 1 | ||||||||
|
Q8N427 | NME/NM23 family member 8 | 1 | 0.644 | 0.692 | 5.6E-28 | 0.100 | None | 0 | 1 |