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: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 31 0.555 0.731 1.1E-44 0.100 None 1.000 1 11 2016 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		P02458 collagen type II alpha 1 chain 78 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		Q9BVV6 KIAA0586 32 0.565 0.731 5.1E-16 0.100 None 0 1
Entrez Id: 83452
Gene Symbol: RAB33B
RAB33B 		Q9H082 RAB33B, member RAS oncogene family 4 0.821 0.192 0.68 0.100 None 0 1
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Q8TAM1 Bardet-Biedl syndrome 10 27 0.644 0.538 1.7E-12 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		Q8NEZ3 WD repeat domain 19 26 0.554 0.769 4.6E-11 0.100 None 0 2
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		Q8TCX1 dynein cytoplasmic 2 light intermediate chain 1 Cellular structure 4 0.601 0.500 3.2E-09 0.100 None 0 5
Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2 		Q8WW35 Tctex1 domain containing 2 Cellular structure 5 0.751 0.346 3.2E-04 0.100 None 0 1
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		P22607 fibroblast growth factor receptor 3 Kinase 60 0.391 0.846 1.6E-05 0.100 None 0 1
Entrez Id: 2121
Gene Symbol: EVC
EVC 		P57679 EvC ciliary complex subunit 1 14 0.587 0.577 3.5E-25 0.100 None 0 2
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1 		Q14194 collapsin response mediator protein 1 Enzyme 14 0.525 0.808 0.99 0.100 None 0 1
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753 		Q2KHM9 KIAA0753 8 0.631 0.577 1.6E-28 0.100 None 0 1