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+ Genes 6

+ Genes associated with diseases 6

Genes at Omim

ABCA4, COL2A1, COL4A2, COL4A4, COL5A1, PXDN,
ABCA4 {Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Fundus flavimaculatus, 248200 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Czech dysplasia, 609162 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Legg-Calve-Perthes disease, 150600 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
COL4A2 Brain small vessel disease 2, 614483 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)

Genes at Clinical Genomics Database

ABCA4, COL2A1, COL4A2, COL4A4, COL5A1, PXDN,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
COL4A2 Hemorrhage, intracerebral, susceptibility to
COL4A4 Alport syndrome, autosomal recessive
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
PXDN Corneal opacification with other ocular anomalies

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 6

Export to: CSV
  • Page 1 of 1

ABCA4
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 12030_s5 1 rs1801555
dbSNP Clinvar 		94466659 100.0 A G PASS 1/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.30112 0.30110 0.29886 None None None None None None ABCA4|0.440503373|18.63%

COL2A1
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 12030_s5 12 rs150865922
dbSNP Clinvar 		48381394 100.0 G A PASS 0/1 42 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00240 0.00240 0.00400 None None None None None None COL2A1|0.956600158|2.04%

COL4A2
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 12030_s5 13 rs147765396
dbSNP Clinvar 		111098229 100.0 G A PASS 0/1 49 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.00731 None None None None None None COL4A2|0.044971251|64.22%

COL4A4
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 12030_s5 2 rs2228556
dbSNP Clinvar 		227892619 100.0 C T PASS 0/1 80 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%

COL5A1
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 12030_s5 9 rs61729545
dbSNP Clinvar 		137630361 100.0 G A PASS 0/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07009 0.07009 0.06974 None None None None None None COL5A1|0.207487878|35.85%

PXDN
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 12030_s5 2 rs17841813
dbSNP Clinvar 		1664654 100.0 A G PASS 1/1 50 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81090 0.81090 0.28651 None None None None None None PXDN|0.054174855|61.43%
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