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+ Genes 40

+ Genes associated with diseases 31

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, CYP4V2, FOXE3, GSN, IL1RN, KERA, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, PIK3R1, PIKFYVE, PRDM5, PXDN, SLC4A11, TGFBI, VSX1, ZNF469,
ABCA4 Fundus flavimaculatus, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease 2, 614483 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
FOXE3 Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)
Cataract 34, multiple types, 612968 (3)
{Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
GSN Amyloidosis, Finnish type, 105120 (3)
IL1RN {Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MTOR Focal cortical dysplasia, type II, somatic, 607341 (3)
Smith-Kingsmore syndrome, 616638 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (3)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
VSX1 Keratoconus 1, 148300 (3)
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, CYP4V2, FOXE3, GSN, IL1RN, KERA, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, PIK3R1, PIKFYVE, PRDM5, PXDN, SLC4A11, TGFBI, VSX1, ZNF469,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
ABCC6 Pseudoxanthoma elasticum
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COL4A2 Hemorrhage, intracerebral, susceptibility to
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
GSN Amyloidosis, Finnish type
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KERA Cornea plana 2, autosomal recessive
KRT13 White sponge nevus 2
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT3 Meesmann corneal dystrophy
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MTOR Smith-Kingsmore syndrome
MYLK Aortic aneurysm, familial thoracic 7
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PIKFYVE Corneal fleck dystrophy
PRDM5 Brittle cornea syndrome 2
PXDN Corneal opacification with other ocular anomalies
SLC4A11 Cryohydrocytosis
TGFBI Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
Keratoconus 1
Corneal dystrophy, posterior polymorphous
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 111
Number of Genes: 40

Export to: CSV

WNT9A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 1 rs3795768
dbSNP Clinvar 		228113163 100.0 A G PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.68770 0.68770 0.24649 None None None None None None WNT9A|0.206885197|35.91%

ZNF469
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 16 rs12445417
dbSNP Clinvar 		88498297 100.0 T G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.84645 0.84640 0.16032 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs9924504
dbSNP Clinvar 		88497031 100.0 T C PASS 1/1 13 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs12927001
dbSNP Clinvar 		88495654 100.0 A G PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.87480 0.87480 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs9931465
dbSNP Clinvar 		88499539 100.0 C G PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.77955 0.77960 0.18034 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs3812953
dbSNP Clinvar 		88502482 100.0 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.47005 0.47000 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs4782301
dbSNP Clinvar 		88505635 100.0 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.79633 0.79630 0.22434 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs4782362
dbSNP Clinvar 		88505734 100.0 C T PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.98722 0.98720 0.01205 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs9938800
dbSNP Clinvar 		88497400 100.0 G A PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.90256 0.90260 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs12918876
dbSNP Clinvar 		88496008 100.0 T C PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.60443 0.60440 None None None None None None ZNF469|0.000923153|95.92%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 3 rs3749351
dbSNP Clinvar 		3886180 100.0 T C PASS 0/1 29 START_GAINED LOW None 0.69768 0.69770 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%