Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 1.000 1 11 2016 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 1
Entrez Id: 83452
Gene Symbol: RAB33B
RAB33B 		RAB33B, member RAS oncogene family 0.821 0.192 0.68
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 1
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 2
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 5
Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2 		Tctex1 domain containing 2 0.751 0.346 3.2E-04
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 1
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 1
Entrez Id: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 2
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1 		collapsin response mediator protein 1 0.525 0.808 0.99
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 1
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753 		KIAA0753 0.631 0.577 1.6E-28
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 1