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: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
phosphodiesterase 6C 0.700 0.269 2.3E-16
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 51604
Gene Symbol: PIGT
PIGT
phosphatidylinositol glycan anchor biosynthesis class T 0.633 0.615 7.3E-10
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
peptidase D 0.621 0.769 1.5E-14
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
peroxisomal biogenesis factor 13 0.597 0.654 5.9E-05
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
protocadherin 12 0.722 0.346 2.9E-13
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
OPA1 mitochondrial dynamin like GTPase 0.510 0.846 0.99
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5052
Gene Symbol: PRDX1
PRDX1
peroxiredoxin 1 0.485 0.846 7.7E-10
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
paired box 2 0.495 0.731 0.67
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 50964
Gene Symbol: SOST
SOST
sclerostin 0.474 0.808 0.87
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 51082
Gene Symbol: POLR1D
POLR1D
RNA polymerase I and III subunit D 0.603 0.692 0.36
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR
mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
secretion associated Ras related GTPase 1B 0.686 0.462 2.3E-03
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0