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: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.190 None 1.000 0 4 2006 2018
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.170 None 1.000 0 1 2002 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.150 None 1.000 0 1 2004 2017
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.120 None 1.000 0 1 2009 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.110 None 1.000 0 1 2000 2000
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.110 None 1.000 0 1 2019 2019
Entrez Id: 4541
Gene Symbol: ND6
ND6
NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.110 None 1.000 0 1 1994 1994
Entrez Id: 11098
Gene Symbol: PRSS23
PRSS23
serine protease 23 0.722 0.346 1.9E-05
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 1
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.691 0.423 3.6E-06
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0456909
Disease: Blindness
Blindness
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: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 2
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
peptidase, mitochondrial processing subunit alpha 0.633 0.577 3.4E-11
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 2
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
EGF containing fibulin extracellular matrix protein 1 0.540 0.769 1.00
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 1
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
interleukin 1 receptor associated kinase 1 binding protein 1 0.780 0.346 1.4E-06
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 1
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
frizzled class receptor 4 0.490 0.923 0.97
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 1