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: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 0 0
Entrez Id: 56160
Gene Symbol: NSMCE3
NSMCE3
Q96MG7 NSE3 homolog, SMC5-SMC6 complex component Cell adhesion 19 0.751 0.346 5.6E-02 0.100 None 0 0
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298
P57076 cilia and flagella associated protein 298 45 0.678 0.500 1.1E-06 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.100 None 0 0
Entrez Id: 5788
Gene Symbol: PTPRC
PTPRC
P08575 protein tyrosine phosphatase receptor type C Enzyme 366 0.435 0.808 1.00 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
P55895 recombination activating 2 207 0.507 0.769 2.0E-02 0.100 None 0 0
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
P49792 RAN binding protein 2 Enzyme modulator 110 0.578 0.615 1.00 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Q92834 retinitis pigmentosa GTPase regulator 167 0.536 0.692 1.00 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 629
Gene Symbol: CFB
CFB
P00751 complement factor B 139 0.532 0.769 4.7E-16 0.100 None 0 0
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
Q96SD1 DNA cross-link repair 1C 150 0.544 0.808 2.5E-07 0.100 None 0 0
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2
Q9GZS0 dynein axonemal intermediate chain 2 Cellular structure 49 0.666 0.500 9.5E-13 0.100 None 0 0
Entrez Id: 6445
Gene Symbol: SGCG
SGCG
Q13326 sarcoglycan gamma Cellular structure 93 0.621 0.615 4.8E-05 0.100 None 0 0
Entrez Id: 6603
Gene Symbol: SMARCD2
SMARCD2
Q92925 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 Nucleic acid binding 31 0.700 0.385 6.5E-05 0.100 None 0 3
Entrez Id: 6674
Gene Symbol: SPAG1
SPAG1
Q07617 sperm associated antigen 1 49 0.663 0.577 1.4E-09 0.100 None 0 0
Entrez Id: 6729
Gene Symbol: SRP54
SRP54
P61011 signal recognition particle 54 Nucleic acid binding 96 0.612 0.769 1.00 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
O14746 telomerase reverse transcriptase Enzyme 703 0.374 0.846 0.99 0.100 None 0 0
Entrez Id: 7276
Gene Symbol: TTR
TTR
P02766 transthyretin Transporter 461 0.423 0.885 0.52 0.100 None 0 1
Entrez Id: 727897
Gene Symbol: MUC5B
MUC5B
Q9HC84 mucin 5B, oligomeric mucus/gel-forming 141 0.532 0.808 1.00 0.100 None 0 0
Entrez Id: 7454
Gene Symbol: WAS
WAS
P42768 WASP actin nucleation promoting factor Cellular structure 204 0.529 0.808 1.00 0.100 None 0 0
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
P43403 zeta chain of T cell receptor associated protein kinase 70 Kinase 212 0.497 0.769 0.88 0.100 None 0 0
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8
Q8NF50 dedicator of cytokinesis 8 Enzyme modulator 112 0.578 0.731 1.5E-11 0.100 None 0 0
Entrez Id: 83538
Gene Symbol: TTC25
TTC25
Q96NG3 tetratricopeptide repeat domain 25 44 0.674 0.538 0.100 None 0 0