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: 83552
Gene Symbol: MFRP
MFRP
membrane frizzled-related protein 0.621 0.538 1.3E-15
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.500 None 0.938 0 1 2005 2018
Entrez Id: 338917
Gene Symbol: VSX2
VSX2
visual system homeobox 2 0.695 0.462 1.6E-04
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 1.000 1 2 2000 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.190 None 0.900 1 1 1994 2018
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
forkhead box E3 0.568 0.654 0.18
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.150 None 0.800 0 2 2009 2018
Entrez Id: 5915
Gene Symbol: RARB
RARB
retinoic acid receptor beta 0.478 0.846 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.130 None 1.000 0 2 2013 2019
Entrez Id: 55714
Gene Symbol: TENM3
TENM3
teneurin transmembrane protein 3 0.599 0.692 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.120 None 1.000 0 2 2012 2019
Entrez Id: 5950
Gene Symbol: RBP4
RBP4
retinol binding protein 4 0.493 0.808 0.52
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.110 None 1.000 1 1 2017 2017
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
free fatty acid receptor 4 0.621 0.577 1.4E-05
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 0 1
Entrez Id: 7477
Gene Symbol: WNT7B
WNT7B
Wnt family member 7B 0.633 0.346 7.4E-04
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 0 2
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 0 2
Entrez Id: 4810
Gene Symbol: NHS
NHS
NHS actin remodeling regulator 0.466 0.846 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 0 1
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
crystallin gamma C 0.612 0.577 6.1E-04
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 0 1