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: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 2 2 2001 2003
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 1 4 2017 2017
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 1 3 2000 2000
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 1 1 2005 2005
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 1 1 2004 2004
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 1 1 2004 2004
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel subunit alpha 3 0.650 0.154 8.0E-20
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 1 2 2001 2001
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 1 3 2017 2017
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 60506
Gene Symbol: NYX
NYX
nyctalopin 0.678 0.192 0.13
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 5950
Gene Symbol: RBP4
RBP4
retinol binding protein 4 0.493 0.808 0.52
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 2
Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
free fatty acid receptor 4 0.621 0.577 1.4E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2
G protein subunit alpha transducin 2 0.674 0.231 7.0E-06
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 1121
Gene Symbol: CHM
CHM
CHM Rab escort protein 0.592 0.654 1.00
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype 0.100 None 0 1