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.
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
P13569 CF transmembrane conductance regulator Ion channel 27 0.424 0.885 2.2E-58 0.200 None 0.938 0 2 1999 2019
Entrez Id: 182
Gene Symbol: JAG1
JAG1
P78504 jagged canonical Notch ligand 1 34 0.429 0.808 1.00 0.130 None 1.000 0 1 2007 2017
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 37 0.563 0.731 1.00 0.110 None 1.000 1 1 1994 1998
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
Q96DT5 dynein axonemal heavy chain 11 Enzyme 39 0.587 0.692 2.5E-58 0.110 None 1.000 0 2 2013 2013
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8
Q8NF50 dedicator of cytokinesis 8 Enzyme modulator 3 0.578 0.731 1.5E-11 0.110 None 1.000 0 1 2018 2018
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
P50542 peroxisomal biogenesis factor 5 Transporter 11 0.561 0.731 5.6E-05 0.100 None 1.000 1 1 2015 2015
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
Q8N653 leucine zipper like transcription regulator 1 38 0.547 0.808 1.0E-92 0.100 None 1.000 1 1 2018 2018
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 0 1
Entrez Id: 79631
Gene Symbol: EFL1
EFL1
Q7Z2Z2 elongation factor like GTPase 1 Enzyme 19 0.638 0.577 5.1E-08 0.100 None 0 1
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B
P51692 signal transducer and activator of transcription 5B Nucleic acid binding 8 0.442 0.808 1.00 0.100 None 0 1
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 29 0.593 0.692 3.4E-12 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 60 0.420 0.885 0.68 0.100 None 0 1
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
Q6UX98 zinc finger DHHC-type containing 24 29 0.722 0.462 4.2E-04 0.100 None 0 1
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 24 0.751 0.500 1.00 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 24 0.556 0.808 0.100 None 0 2