MCID: STR084
MIFTS: 48

Stargardt Disease 1

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Stargardt Disease 1

MalaCards integrated aliases for Stargardt Disease 1:

Name: Stargardt Disease 1 57 75 29 6 73
Fundus Flavimaculatus 57 75 13 55
Retinal Dystrophy, Early-Onset Severe 57 29 6
Stgd1 57 75 55
Macular Dystrophy with Flecks, Type 1 57
Macular Dystrophy with Flecks Type 1 75
Macular Degeneration, Juvenile 57
Macular Degeneration Juvenile 76
Juvenile Macular Degeneration 75
Stargardt's Disease 75
Stargardts Disease 55
Stgd 57
Ffm 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
stargardt disease 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 248200
MeSH 44 D003317
UMLS 73 C1855465

Summaries for Stargardt Disease 1

UniProtKB/Swiss-Prot : 75 Fundus flavimaculatus: Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. Stargardt disease 1: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.

MalaCards based summary : Stargardt Disease 1, also known as fundus flavimaculatus, is related to stargardt macular degeneration and stargardt disease. An important gene associated with Stargardt Disease 1 is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Phototransduction and the visual cycle I (vertebrates). The drugs acetic acid and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are macular degeneration and retinitis pigmentosa inversa

Wikipedia : 76 Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical... more...

Description from OMIM: 248200

Related Diseases for Stargardt Disease 1

Diseases in the Stargardt Disease family:

Stargardt Disease 1 Stargardt Disease 3
Stargardt Disease 4

Diseases related to Stargardt Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 stargardt macular degeneration 31.2 ABCA4 ELOVL4 RHO
2 stargardt disease 29.5 ABCA4 CNGB3 ELOVL4 GNAT2 MFSD8 RHO
3 juvenile macular degeneration and hypotrichosis 12.2
4 multifocal pattern dystrophy simulating fundus flavimaculatus 12.2
5 leber congenital amaurosis 14 11.4
6 severe early-childhood-onset retinal dystrophy 11.3
7 hypotrichosis, congenital, with juvenile macular dystrophy 11.1
8 stargardt disease 4 11.0
9 yemenite deaf-blind hypopigmentation syndrome 10.2 ABCA4 RHO
10 colorblindness, partial, protan series 10.2 CNGB3 RHO
11 oligocone trichromacy 10.1 CNGB3 GNAT2
12 achromatopsia 4 10.1 CNGB3 GNAT2
13 jalili syndrome 10.1 CNGB3 GNAT2
14 blue cone monochromacy 10.1 CNGB3 RHO
15 cone-rod dystrophy 6 10.1 CNGB3 GNAT2
16 tritanopia 10.1 CNGB3 RHO
17 graft-versus-host disease 9.9
18 acute graft versus host disease 9.9
19 retinitis pigmentosa 7 9.9 RHO ROM1
20 macular dystrophy, concentric annular 9.9 ABCA4 CRX
21 red-green color blindness 9.9 ABCA4 CNGB3 RHO
22 color blindness 9.8 CNGB3 GNAT2
23 congenital stationary night blindness 9.8 ABCA4 CNGB3 RHO
24 degeneration of macula and posterior pole 9.8 ABCA4 ELOVL4 RHO
25 macular degeneration, age-related, 1 9.7 ABCA4 ELOVL4 RHO
26 retinoschisis 1, x-linked, juvenile 9.7 CNGB3 CRX
27 achromatopsia 9.6 CNGB3 GNAT2
28 prolonged electroretinal response suppression 9.6 ABCA4 CRX
29 achromatopsia 3 9.2 CNGB3 CRX GNAT2
30 ewing sarcoma 9.1 ABCA4 CNGB3 RHO
31 retinal degeneration 8.7 ABCA4 CRX RHO ROM1
32 leber congenital amaurosis 8.4 ABCA4 CNGB3 CRX ELOVL4 RHO
33 cone-rod dystrophy 2 8.2 ABCA4 CNGB3 CRX GNAT2 RHO
34 retinal disease 7.8 ABCA4 CNGB3 CRX ELOVL4 RHO ROM1
35 retinitis pigmentosa 7.7 ABCA4 CRX ELOVL4 MFSD8 RHO ROM1
36 fundus dystrophy 7.0 ABCA4 CNGB3 CRX ELOVL4 GNAT2 RHO

Graphical network of the top 20 diseases related to Stargardt Disease 1:



Diseases related to Stargardt Disease 1

Symptoms & Phenotypes for Stargardt Disease 1

Symptoms via clinical synopsis from OMIM:

57
HEENT:
macular degeneration
central retinitis pigmentosa

Misc:
onset in first 2 decades


Clinical features from OMIM:

248200

Human phenotypes related to Stargardt Disease 1:

32
# Description HPO Frequency HPO Source Accession
1 macular degeneration 32 HP:0000608
2 retinitis pigmentosa inversa 32 HP:0008035
3 bull's eye maculopathy 32 very rare (1%) HP:0011504

MGI Mouse Phenotypes related to Stargardt Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.76 ELOVL4 GNAT2 MFSD8 RHO ROM1 ABCA4
2 cardiovascular system MP:0005385 9.73 ABCA4 CRX GNAT2 MFSD8 RHO ROM1
3 pigmentation MP:0001186 9.35 ABCA4 CRX ELOVL4 MFSD8 RHO
4 vision/eye MP:0005391 9.23 ABCA4 CNGB3 CRX ELOVL4 GNAT2 MFSD8

Drugs & Therapeutics for Stargardt Disease 1

Drugs for Stargardt Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
acetic acid Approved, Nutraceutical Phase 2 64-19-7 176
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
3 Complement System Proteins Phase 2
4
Retinol acetate Phase 2 127-47-9 10245972
5 Retinol palmitate Phase 2
6 Vitamins Phase 2
7 retinol Nutraceutical Phase 2
8 Omega 3 Fatty Acid Nutraceutical Not Applicable
9 Sunflower Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1) Recruiting NCT03364153 Phase 2 Zimura
2 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
3 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Active, not recruiting NCT02410122
4 Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease Not yet recruiting NCT03297515 Not Applicable

Search NIH Clinical Center for Stargardt Disease 1

Genetic Tests for Stargardt Disease 1

Genetic tests related to Stargardt Disease 1:

# Genetic test Affiliating Genes
1 Stargardt Disease 1 29 ABCA4 CNGB3
2 Retinal Dystrophy, Early-Onset Severe 29

Anatomical Context for Stargardt Disease 1

MalaCards organs/tissues related to Stargardt Disease 1:

41
Eye, Retina

Publications for Stargardt Disease 1

Articles related to Stargardt Disease 1:

# Title Authors Year
1
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512. ( 17297718 )
2006
2
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537. ( 17297692 )
2006
3
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. ( 17297691 )
2006
4
Gene symbol: ABCA4. Disease: Stargardt disease 1. ( 17128450 )
2006
5
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538. ( 17297693 )
2006

Variations for Stargardt Disease 1

UniProtKB/Swiss-Prot genetic disease variations for Stargardt Disease 1:

75 (show top 50) (show all 190)
# Symbol AA change Variation ID SNP ID
1 ABCA4 p.Arg18Trp VAR_008398 rs121909205
2 ABCA4 p.Arg24His VAR_008399 rs62645958
3 ABCA4 p.Cys54Tyr VAR_008400 rs150774447
4 ABCA4 p.Gly65Glu VAR_008401 rs62654395
5 ABCA4 p.Cys75Gly VAR_008402 rs61748526
6 ABCA4 p.Asn96Asp VAR_008403 rs61748529
7 ABCA4 p.Asn96His VAR_008404 rs61748529
8 ABCA4 p.Ala192Thr VAR_008405 rs61748535
9 ABCA4 p.Arg212Cys VAR_008406 rs61750200
10 ABCA4 p.Asp249Gly VAR_008407 rs62646865
11 ABCA4 p.Thr300Asn VAR_008408 rs61748544
12 ABCA4 p.Ser336Cys VAR_008409 rs61748547
13 ABCA4 p.Tyr340Asp VAR_008410 rs61748548
14 ABCA4 p.Ala407Val VAR_008411 rs61751264
15 ABCA4 p.Ser445Arg VAR_008412 rs61748552
16 ABCA4 p.Glu471Lys VAR_008413 rs1800548
17 ABCA4 p.Asp523Glu VAR_008414 rs62646868
18 ABCA4 p.Leu541Pro VAR_008415 rs61751392
19 ABCA4 p.Arg572Pro VAR_008416 rs61748559
20 ABCA4 p.Arg572Gln VAR_008417 rs61748559
21 ABCA4 p.Arg602Trp VAR_008418 rs61749409
22 ABCA4 p.Phe608Ile VAR_008419 rs61752398
23 ABCA4 p.Asp645Asn VAR_008421 rs61749418
24 ABCA4 p.Gly818Glu VAR_008422 rs61750202
25 ABCA4 p.Trp821Arg VAR_008423 rs61749433
26 ABCA4 p.Gly851Asp VAR_008424 rs61749436
27 ABCA4 p.Gly863Ala VAR_008425 rs76157638
28 ABCA4 p.Val931Met VAR_008427 rs58331765
29 ABCA4 p.Gln957Arg VAR_008429 rs61749448
30 ABCA4 p.Asn965Ser VAR_008430 rs201471607
31 ABCA4 p.Gly978Cys VAR_008431 rs61749452
32 ABCA4 p.Glu1036Lys VAR_008432 rs61750061
33 ABCA4 p.Ala1038Val VAR_008433 rs61751374
34 ABCA4 p.Ser1071Leu VAR_008434 rs61750065
35 ABCA4 p.Val1072Ala VAR_008435
36 ABCA4 p.Glu1087Lys VAR_008436 rs61751398
37 ABCA4 p.Thr1112Asn VAR_008437 rs61750122
38 ABCA4 p.Glu1122Lys VAR_008438 rs61751399
39 ABCA4 p.Arg1129Leu VAR_008439 rs1801269
40 ABCA4 p.Leu1201Arg VAR_008440 rs61750126
41 ABCA4 p.Asp1204Asn VAR_008441 rs61750127
42 ABCA4 p.Pro1380Leu VAR_008443 rs61750130
43 ABCA4 p.His1406Tyr VAR_008444 rs61750133
44 ABCA4 p.Trp1408Leu VAR_008445 rs61750134
45 ABCA4 p.Trp1408Arg VAR_008446 rs61750135
46 ABCA4 p.Val1429Ala VAR_008448 rs61752432
47 ABCA4 p.Val1433Ile VAR_008449 rs56357060
48 ABCA4 p.Gly1439Asp VAR_008450 rs61750140
49 ABCA4 p.Phe1440Ser VAR_008451 rs61750141
50 ABCA4 p.Pro1486Leu VAR_008452 rs61750145

ClinVar genetic disease variations for Stargardt Disease 1:

6
(show top 50) (show all 437)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val) single nucleotide variant Pathogenic rs121909204 GRCh37 Chromosome 1, 94508999: 94508999
2 ABCA4 NM_000350.2(ABCA4): c.3083C> T (p.Ala1028Val) single nucleotide variant Pathogenic rs121909204 GRCh38 Chromosome 1, 94043443: 94043443
3 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh37 Chromosome 1, 94471065: 94471065
4 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh38 Chromosome 1, 94005509: 94005509
5 ABCA4 NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61749438 GRCh37 Chromosome 1, 94520689: 94520689
6 ABCA4 NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs61749438 GRCh38 Chromosome 1, 94055133: 94055133
7 ABCA4 NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys) single nucleotide variant Pathogenic rs61750061 GRCh37 Chromosome 1, 94508976: 94508976
8 ABCA4 NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys) single nucleotide variant Pathogenic rs61750061 GRCh38 Chromosome 1, 94043420: 94043420
9 ABCA4 NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs) insertion Pathogenic rs61750064 GRCh37 Chromosome 1, 94508434: 94508435
10 ABCA4 NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs) insertion Pathogenic rs61750064 GRCh38 Chromosome 1, 94042878: 94042879
11 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
12 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh38 Chromosome 1, 94008251: 94008251
13 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
14 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh38 Chromosome 1, 94043413: 94043413
15 ABCA4 NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp) single nucleotide variant Pathogenic rs61748548 GRCh37 Chromosome 1, 94546115: 94546115
16 ABCA4 NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp) single nucleotide variant Pathogenic rs61748548 GRCh38 Chromosome 1, 94080559: 94080559
17 ABCA4 ABCA4, IVS5AS, A-G, -2 single nucleotide variant Pathogenic
18 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
19 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs61750200 GRCh38 Chromosome 1, 94098928: 94098928
20 ABCA4 NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121909205 GRCh37 Chromosome 1, 94586550: 94586550
21 ABCA4 NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121909205 GRCh38 Chromosome 1, 94120994: 94120994
22 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
23 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh38 Chromosome 1, 94031110: 94031110
24 ABCA4 NM_000350.2(ABCA4): c.1225delA (p.Arg409Glyfs) deletion Pathogenic rs387906387 GRCh37 Chromosome 1, 94544892: 94544892
25 ABCA4 NM_000350.2(ABCA4): c.1225delA (p.Arg409Glyfs) deletion Pathogenic rs387906387 GRCh38 Chromosome 1, 94079336: 94079336
26 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
27 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh38 Chromosome 1, 94005500: 94005500
28 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh37 Chromosome 1, 94481322: 94481322
29 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh38 Chromosome 1, 94015766: 94015766
30 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
31 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh38 Chromosome 1, 94008767: 94008767
32 ABCA4 NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala) single nucleotide variant Pathogenic rs121909207 GRCh37 Chromosome 1, 94480221: 94480221
33 ABCA4 NM_000350.2(ABCA4): c.5338C> G (p.Pro1780Ala) single nucleotide variant Pathogenic rs121909207 GRCh38 Chromosome 1, 94014665: 94014665
34 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
35 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh38 Chromosome 1, 94047009: 94047009
36 ABCA4 NM_000350.2(ABCA4): c.2461T> C (p.Trp821Arg) single nucleotide variant Pathogenic rs61749433 GRCh38 Chromosome 1, 94055237: 94055237
37 ABCA4 NM_000350.2(ABCA4): c.2461T> C (p.Trp821Arg) single nucleotide variant Pathogenic rs61749433 GRCh37 Chromosome 1, 94520793: 94520793
38 ABCA4 NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs61751399 GRCh37 Chromosome 1, 94506923: 94506923
39 ABCA4 NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs61751399 GRCh38 Chromosome 1, 94041367: 94041367
40 ABCA4 NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750120 GRCh37 Chromosome 1, 94508323: 94508323
41 ABCA4 NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750120 GRCh38 Chromosome 1, 94042767: 94042767
42 ABCA4 NM_000350.2(ABCA4): c.4540-2A> G single nucleotide variant Pathogenic rs61752435 GRCh37 Chromosome 1, 94490606: 94490606
43 ABCA4 NM_000350.2(ABCA4): c.4540-2A> G single nucleotide variant Pathogenic rs61752435 GRCh38 Chromosome 1, 94025050: 94025050
44 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
45 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
46 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh37 Chromosome 1, 94578624: 94578624
47 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh38 Chromosome 1, 94113068: 94113068
48 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895
49 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh38 Chromosome 1, 94079339: 94079339
50 ABCA4 NM_000350.2(ABCA4): c.122G> A (p.Trp41Ter) single nucleotide variant Pathogenic rs61751410 GRCh37 Chromosome 1, 94578567: 94578567

Copy number variations for Stargardt Disease 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13317 1 1 117600000 Microdeletion ABCA4 Stargardt''s disease

Expression for Stargardt Disease 1

Search GEO for disease gene expression data for Stargardt Disease 1.

Pathways for Stargardt Disease 1

GO Terms for Stargardt Disease 1

Cellular components related to Stargardt Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.26 GNAT2 RHO
2 photoreceptor disc membrane GO:0097381 9.16 ABCA4 RHO
3 photoreceptor outer segment membrane GO:0042622 9.13 GNAT2 RHO ROM1
4 photoreceptor outer segment GO:0001750 8.92 ABCA4 CNGB3 GNAT2 RHO

Biological processes related to Stargardt Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.37 ABCA4 RHO
2 response to stimulus GO:0050896 9.35 ABCA4 CNGB3 CRX GNAT2 RHO
3 photoreceptor cell maintenance GO:0045494 9.32 ABCA4 RHO
4 phototransduction GO:0007602 9.26 GNAT2 RHO
5 phototransduction, visible light GO:0007603 9.16 ABCA4 RHO
6 visual perception GO:0007601 9.1 ABCA4 CNGB3 CRX GNAT2 RHO ROM1

Molecular functions related to Stargardt Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled photoreceptor activity GO:0008020 8.8 ELOVL4 GNAT2 RHO

Sources for Stargardt Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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