LCA3
MCID: LBR013
MIFTS: 46

Leber Congenital Amaurosis 3 (LCA3)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leber Congenital Amaurosis 3

MalaCards integrated aliases for Leber Congenital Amaurosis 3:

Name: Leber Congenital Amaurosis 3 57 12 20 72 29 13 6 15 70
Lca3 57 12 20 72
Retinitis Pigmentosa, Juvenile, Autosomal Recessive 57 29
Leber Congenital Amaurosis Type 3 20 70
Amaurosis Congenita of Leber, Type 3 20
Leber Congenital Amaurosis, Type 3 39

Characteristics:

HPO:

31
leber congenital amaurosis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110331
OMIM® 57 604232
OMIM Phenotypic Series 57 PS204000
MeSH 44 D057130
ICD10 32 H35.5
UMLS 70 C1858677 C2931386

Summaries for Leber Congenital Amaurosis 3

OMIM® : 57 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement. For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (604232) (Updated 05-Apr-2021)

MalaCards based summary : Leber Congenital Amaurosis 3, also known as lca3, is related to solar retinopathy and cone-rod dystrophy 17. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (Spermatogenesis Associated 7), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are nystagmus and nyctalopia

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the SPATA7 gene on chromosome 14q31.

UniProtKB/Swiss-Prot : 72 Leber congenital amaurosis 3: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Related Diseases for Leber Congenital Amaurosis 3

Diseases in the Leber Congenital Amaurosis 4 family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 9 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 13
Leber Congenital Amaurosis 14 Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 7 Leber Congenital Amaurosis 8
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 15
Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 19

Diseases related to Leber Congenital Amaurosis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 solar retinopathy 10.3 RDH12 CRB1
2 cone-rod dystrophy 17 10.3 GUCY2D AIPL1
3 chorioretinal scar 10.3 RDH12 CRB1
4 cone-rod dystrophy 12 10.3 GUCY2D AIPL1
5 retinitis pigmentosa 63 10.3 SPATA7 CRX
6 optic disk drusen 10.3 RPGRIP1 CRB1
7 simpson-golabi-behmel syndrome, type 2 10.2 LCA5 CEP290
8 cone-rod dystrophy 8 10.2 LCA5 GUCY2D AIPL1
9 achromatopsia 3 10.2 RPGRIP1 GUCY2D
10 cone-rod dystrophy 1 10.2 RPGRIP1 NPHP4
11 partial central choroid dystrophy 10.2 GUCY2D CRX AIPL1
12 retinitis pigmentosa 28 10.2 LCA5 CRX
13 hereditary choroidal atrophy 10.2 GUCY2D CRX AIPL1
14 retinitis pigmentosa 38 10.2 TULP1 RPE65
15 joubert syndrome 9 10.2 RPE65 CEP290
16 bestrophinopathy, autosomal recessive 10.2 RPE65 CRB1
17 joubert syndrome 7 10.1 RPGRIP1 CEP290
18 retinitis pigmentosa 29 10.1 LCA5 CRYAA
19 scotoma 10.1 RPE65 GUCY2D CRB1
20 nanophthalmos 10.1 RPE65 LCA5 CRB1
21 retinitis pigmentosa 20 10.1 RPE65 LRAT
22 intraocular retinoblastoma 10.1 CRYAA CRX
23 stargardt disease 1 10.1 TULP1 CRX CRB1
24 aland island eye disease 10.1 RPGRIP1 RPE65 GUCY2D
25 leber congenital amaurosis / early-onset severe retinal dystrophy 10.1 RPE65 CEP290 AIPL1
26 pigmented paravenous chorioretinal atrophy 10.1 RDH12 GUCY2D CRB1 AIPL1
27 optic nerve hypoplasia, bilateral 10.1 RPE65 CRX CRB1
28 retinal perforation 10.1 RPE65 CRYAA
29 choroid disease 10.1 RPE65 GUCY2D CEP290
30 pseudoretinitis pigmentosa 10.1 TULP1 IMPDH1 CRB1
31 cogan syndrome 10.1 NPHP4 CEP290
32 choroideremia 10.1 RPE65 GUCY2D CEP290
33 blood group, globoside system 10.0 RPE65 CRYAA
34 cone-rod dystrophy 3 10.0 GUCY2D CRYAA CRX
35 exotropia 10.0 RPE65 CRYAA AIPL1
36 nephronophthisis 4 10.0 RPGRIP1 NPHP4
37 severe early-childhood-onset retinal dystrophy 10.0 SPATA7 RPE65 LRAT LCA5
38 enophthalmos 10.0 GUCY2D CRYAA CEP290
39 retinoschisis 1, x-linked, juvenile 10.0 RPE65 GUCY2D CRX CRB1
40 vitelliform macular dystrophy 10.0 RPE65 GUCY2D CRX CRB1
41 meckel syndrome, type 2 10.0 NPHP4 CEP290
42 yemenite deaf-blind hypopigmentation syndrome 10.0 RPE65 GUCY2D CEP290 AIPL1
43 retinitis pigmentosa 34 9.9 RPGRIP1 IQCB1 CRX
44 nephronophthisis 13 9.9 NPHP4 IQCB1
45 nephronophthisis 18 9.9 NPHP4 IQCB1
46 meckel syndrome, type 5 9.9 NPHP4 CEP290
47 late-onset retinal degeneration 9.9 RPE65 CRX CRB1 CEP290
48 leber congenital amaurosis 11 9.9 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
49 nephronophthisis 15 9.9 NPHP4 IQCB1
50 retinitis 9.9 RPGRIP1 RPE65 IMPDH1 CRB1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 3:



Diseases related to Leber Congenital Amaurosis 3

Symptoms & Phenotypes for Leber Congenital Amaurosis 3

Human phenotypes related to Leber Congenital Amaurosis 3:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 nyctalopia 31 very rare (1%) HP:0000662
3 visual loss 31 very rare (1%) HP:0000572
4 constriction of peripheral visual field 31 HP:0001133

Clinical features from OMIM®:

604232 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 AIPL1 CEP290 CRB1 CRX GUCY2D LCA5
2 pigmentation MP:0001186 9.5 CEP290 CRB1 CRX LCA5 NPHP4 RPE65
3 vision/eye MP:0005391 9.5 AIPL1 CEP290 CRB1 CRX GUCY2D IMPDH1

Drugs & Therapeutics for Leber Congenital Amaurosis 3

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 3

Genetic Tests for Leber Congenital Amaurosis 3

Genetic tests related to Leber Congenital Amaurosis 3:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 3 29 SPATA7
2 Retinitis Pigmentosa, Juvenile, Autosomal Recessive 29

Anatomical Context for Leber Congenital Amaurosis 3

MalaCards organs/tissues related to Leber Congenital Amaurosis 3:

40
Retina, Eye, Bone Marrow, Bone, Lung

Publications for Leber Congenital Amaurosis 3

Articles related to Leber Congenital Amaurosis 3:

(show all 23)
# Title Authors PMID Year
1
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. 61 6 57
19268277 2009
2
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. 6 57
21310915 2011
3
Mutation survey of known LCA genes and loci in the Saudi Arabian population. 57 61
18936139 2009
4
A novel locus for Leber congenital amaurosis on chromosome 14q24. 57 61
9799089 1998
5
SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. 6
26854980 2016
6
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 6
26047050 2015
7
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 6
26261414 2015
8
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 6
23847139 2013
9
Next-generation genetic testing for retinitis pigmentosa. 6
22334370 2012
10
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 6
20104588 2010
11
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 57
9326941 1997
12
The spermatogenesis-associated protein-7 (SPATA7) gene - an overview. 61
32799588 2020
13
The lateralization of left hippocampal CA3 during the retrieval of spatial working memory. 61
32518226 2020
14
Optimal Inhibition of Choroidal Neovascularization by scAAV2 with VMD2 Promoter-driven Active Rap1a in the RPE. 61
31673119 2019
15
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. 61
25398945 2015
16
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. 61
16082399 2006
17
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 61
16269441 2005
18
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301475 2004
19
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. 61
12642313 2003
20
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. 61
12567265 2002
21
Monoclonal antibodies for the in vitro detection of small cell lung cancer metastases in human bone marrow. 61
2833399 1988
22
Immunodetection of small cell lung cancer metastases in bone marrow using three monoclonal antibodies. 61
2833400 1988
23
Detection of small cell lung cancer bone marrow metastases by immunofluorescence. 61
2834687 1988

Variations for Leber Congenital Amaurosis 3

ClinVar genetic disease variations for Leber Congenital Amaurosis 3:

6 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPATA7 SPATA7, 4-BP DEL, 265CTCA Deletion Pathogenic 30804 GRCh37:
GRCh38:
2 SPATA7 SPATA7, 3-BP DEL, 1227CAC Deletion Pathogenic 30805 GRCh37:
GRCh38:
3 SPATA7 NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) SNV Pathogenic 30806 rs140287375 GRCh37: 14:88883069-88883069
GRCh38: 14:88416725-88416725
4 SPATA7 NM_018418.5(SPATA7):c.1395del (p.Gln465fs) Deletion Pathogenic 1398 rs386834243 GRCh37: 14:88904360-88904360
GRCh38: 14:88438016-88438016
5 SPATA7 NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) SNV Pathogenic 1395 rs80044281 GRCh37: 14:88883138-88883138
GRCh38: 14:88416794-88416794
6 SPATA7 NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter) SNV Pathogenic 854754 GRCh37: 14:88903921-88903921
GRCh38: 14:88437577-88437577
7 SPATA7 NM_018418.5(SPATA7):c.1200_1201del (p.Asn400fs) Deletion Pathogenic 857630 GRCh37: 14:88903925-88903926
GRCh38: 14:88437581-88437582
8 SPATA7 NM_018418.5(SPATA7):c.763C>T (p.Gln255Ter) SNV Pathogenic 977969 GRCh37: 14:88892966-88892966
GRCh38: 14:88426622-88426622
9 SPATA7 NM_018418.5(SPATA7):c.845+1G>A SNV Pathogenic 977970 GRCh37: 14:88893049-88893049
GRCh38: 14:88426705-88426705
10 SPATA7 NM_018418.5(SPATA7):c.903_904del (p.Ile302fs) Deletion Pathogenic 977971 GRCh37: 14:88894030-88894031
GRCh38: 14:88427686-88427687
11 SPATA7 NM_018418.5(SPATA7):c.1161-1G>C SNV Pathogenic 977972 GRCh37: 14:88903886-88903886
GRCh38: 14:88437542-88437542
12 SPATA7 NM_018418.5(SPATA7):c.1126_1127del (p.Thr375_Asp376insTer) Deletion Pathogenic 977973 GRCh37: 14:88899521-88899522
GRCh38: 14:88433177-88433178
13 SPATA7 NM_018418.5(SPATA7):c.19+1G>C SNV Pathogenic 977974 GRCh37: 14:88852182-88852182
GRCh38: 14:88385838-88385838
14 SPATA7 NM_018418.4:c.(?_-175)_(238+1_239-1)del Deletion Pathogenic 978017 GRCh37:
GRCh38:
15 SPATA7 NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) SNV Pathogenic 489379 rs374268850 GRCh37: 14:88903897-88903897
GRCh38: 14:88437553-88437553
16 SPATA7 NM_018418.5(SPATA7):c.960dup (p.Pro321fs) Duplication Pathogenic 1396 rs386834241 GRCh37: 14:88895738-88895739
GRCh38: 14:88429394-88429395
17 SPATA7 NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) SNV Pathogenic 1397 rs75895925 GRCh37: 14:88903909-88903909
GRCh38: 14:88437565-88437565
18 SPATA7 NM_018418.4(SPATA7):c.20_23del (p.Val7Glufs) Deletion Pathogenic 143153 rs527236050 GRCh37: 14:88857723-88857726
GRCh38: 14:88391379-88391382
19 SPATA7 NM_018418.5(SPATA7):c.419del (p.Met140fs) Deletion Pathogenic 1028110 GRCh37: 14:88892622-88892622
GRCh38: 14:88426278-88426278
20 SPATA7 NM_018418.5(SPATA7):c.1361dup (p.Asn454fs) Duplication Likely pathogenic 968304 GRCh37: 14:88904321-88904322
GRCh38: 14:88437977-88437978
21 SPATA7 NM_018418.5(SPATA7):c.20-1G>A SNV Likely pathogenic 941590 GRCh37: 14:88857724-88857724
GRCh38: 14:88391380-88391380
22 SPATA7 NM_018418.5(SPATA7):c.94+2T>C SNV Likely pathogenic 189245 rs786204787 GRCh37: 14:88857801-88857801
GRCh38: 14:88391457-88391457
23 SPATA7 NM_018418.5(SPATA7):c.729C>T (p.Arg243=) SNV Conflicting interpretations of pathogenicity 95908 rs151338404 GRCh37: 14:88892932-88892932
GRCh38: 14:88426588-88426588
24 SPATA7 NM_018418.5(SPATA7):c.387G>A (p.Pro129=) SNV Conflicting interpretations of pathogenicity 314781 rs199727517 GRCh37: 14:88892590-88892590
GRCh38: 14:88426246-88426246
25 SPATA7 NM_018418.5(SPATA7):c.57G>T (p.Pro19=) SNV Conflicting interpretations of pathogenicity 314775 rs367830780 GRCh37: 14:88857762-88857762
GRCh38: 14:88391418-88391418
26 SPATA7 NM_018418.5(SPATA7):c.57G>A (p.Pro19=) SNV Conflicting interpretations of pathogenicity 719794 rs367830780 GRCh37: 14:88857762-88857762
GRCh38: 14:88391418-88391418
27 SPATA7 NM_018418.5(SPATA7):c.19+7G>A SNV Conflicting interpretations of pathogenicity 766822 rs199560035 GRCh37: 14:88852188-88852188
GRCh38: 14:88385844-88385844
28 SPATA7 NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) SNV Conflicting interpretations of pathogenicity 198231 rs34682727 GRCh37: 14:88893018-88893018
GRCh38: 14:88426674-88426674
29 SPATA7 NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) SNV Conflicting interpretations of pathogenicity 844972 GRCh37: 14:88852165-88852165
GRCh38: 14:88385821-88385821
30 SPATA7 NM_018418.5(SPATA7):c.1033A>G (p.Met345Val) SNV Uncertain significance 167716 rs375371982 GRCh37: 14:88897520-88897520
GRCh38: 14:88431176-88431176
31 SPATA7 NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala) SNV Uncertain significance 314791 rs200231959 GRCh37: 14:88904572-88904572
GRCh38: 14:88438228-88438228
32 SPATA7 NM_018418.5(SPATA7):c.19G>T (p.Val7Phe) SNV Uncertain significance 560510 rs371609982 GRCh37: 14:88852181-88852181
GRCh38: 14:88385837-88385837
33 SPATA7 NM_018418.5(SPATA7):c.1216-4C>T SNV Uncertain significance 314787 rs755958987 GRCh37: 14:88904178-88904178
GRCh38: 14:88437834-88437834
34 SPATA7 NM_018418.5(SPATA7):c.728G>A (p.Arg243His) SNV Uncertain significance 1035924 GRCh37: 14:88892931-88892931
GRCh38: 14:88426587-88426587
35 SPATA7 NM_018418.5(SPATA7):c.770G>A (p.Arg257His) SNV Uncertain significance 1038512 GRCh37: 14:88892973-88892973
GRCh38: 14:88426629-88426629
36 SPATA7 NM_018418.5(SPATA7):c.93T>A (p.Asn31Lys) SNV Uncertain significance 1038871 GRCh37: 14:88857798-88857798
GRCh38: 14:88391454-88391454
37 SPATA7 NM_018418.5(SPATA7):c.878A>C (p.Lys293Thr) SNV Uncertain significance 1039934 GRCh37: 14:88894006-88894006
GRCh38: 14:88427662-88427662
38 SPATA7 NM_018418.5(SPATA7):c.445T>A (p.Ser149Thr) SNV Uncertain significance 1040874 GRCh37: 14:88892648-88892648
GRCh38: 14:88426304-88426304
39 SPATA7 NM_018418.5(SPATA7):c.1280C>T (p.Ser427Leu) SNV Uncertain significance 1042095 GRCh37: 14:88904246-88904246
GRCh38: 14:88437902-88437902
40 SPATA7 NM_018418.5(SPATA7):c.1184G>A (p.Arg395Gln) SNV Uncertain significance 1042184 GRCh37: 14:88903910-88903910
GRCh38: 14:88437566-88437566
41 SPATA7 NM_018418.5(SPATA7):c.238+2dup Duplication Uncertain significance 1043714 GRCh37: 14:88862548-88862549
GRCh38: 14:88396204-88396205
42 SPATA7 NM_018418.5(SPATA7):c.296A>T (p.Glu99Val) SNV Uncertain significance 1045517 GRCh37: 14:88883112-88883112
GRCh38: 14:88416768-88416768
43 SPATA7 NM_018418.5(SPATA7):c.1490A>G (p.Lys497Arg) SNV Uncertain significance 497983 rs142122029 GRCh37: 14:88904456-88904456
GRCh38: 14:88438112-88438112
44 SPATA7 NM_018418.5(SPATA7):c.163C>T (p.His55Tyr) SNV Uncertain significance 958818 GRCh37: 14:88859805-88859805
GRCh38: 14:88393461-88393461
45 SPATA7 NM_018418.5(SPATA7):c.75C>G (p.His25Gln) SNV Uncertain significance 959162 GRCh37: 14:88857780-88857780
GRCh38: 14:88391436-88391436
46 SPATA7 NM_018418.5(SPATA7):c.899T>A (p.Met300Lys) SNV Uncertain significance 959404 GRCh37: 14:88894027-88894027
GRCh38: 14:88427683-88427683
47 SPATA7 NM_018418.5(SPATA7):c.1513A>G (p.Ile505Val) SNV Uncertain significance 963197 GRCh37: 14:88904479-88904479
GRCh38: 14:88438135-88438135
48 SPATA7 NM_018418.5(SPATA7):c.932A>G (p.Tyr311Cys) SNV Uncertain significance 844840 GRCh37: 14:88895711-88895711
GRCh38: 14:88429367-88429367
49 SPATA7 NM_018418.5(SPATA7):c.283_284delinsAG (p.Gln95Arg) Indel Uncertain significance 853414 GRCh37: 14:88883099-88883100
GRCh38: 14:88416755-88416756
50 SPATA7 NM_018418.5(SPATA7):c.1689del (p.Ser564fs) Deletion Uncertain significance 861010 GRCh37: 14:88904653-88904653
GRCh38: 14:88438309-88438309

Expression for Leber Congenital Amaurosis 3

Search GEO for disease gene expression data for Leber Congenital Amaurosis 3.

Pathways for Leber Congenital Amaurosis 3

GO Terms for Leber Congenital Amaurosis 3

Cellular components related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.26 TULP1 SPATA7 RPE65 RD3 NPHP4 LRAT
2 cell projection GO:0042995 9.91 TULP1 SPATA7 RPGRIP1 RD3 NPHP4 LCA5
3 cilium GO:0005929 9.8 TULP1 RPGRIP1 NPHP4 LCA5 IQCB1 CEP290
4 microtubule organizing center GO:0005815 9.76 NPHP4 LCA5 IQCB1 CEP290
5 ciliary basal body GO:0036064 9.71 SPATA7 NPHP4 LCA5 CEP290
6 axoneme GO:0005930 9.61 SPATA7 RPGRIP1 LCA5
7 photoreceptor inner segment GO:0001917 9.55 TULP1 RDH12 RD3 CRB1 AIPL1
8 ciliary transition zone GO:0035869 9.54 RPGRIP1 NPHP4 CEP290
9 photoreceptor outer segment GO:0001750 9.43 TULP1 SPATA7 RD3 IQCB1 GUCY2D CRB1
10 photoreceptor connecting cilium GO:0032391 9.1 SPATA7 RPGRIP1 NPHP4 LCA5 IQCB1 CEP290

Biological processes related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.9 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
2 retina development in camera-type eye GO:0060041 9.73 TULP1 RPGRIP1 RPE65 RD3 NPHP4 CRB1
3 ciliary basal body-plasma membrane docking GO:0097711 9.7 NPHP4 IQCB1 CEP290
4 retinoid metabolic process GO:0001523 9.65 RPE65 RDH12 LRAT
5 eye photoreceptor cell development GO:0042462 9.62 TULP1 RPGRIP1 CRB1 CEP290
6 retinol metabolic process GO:0042572 9.61 RPE65 RDH12 LRAT
7 retina homeostasis GO:0001895 9.58 TULP1 RPE65 AIPL1
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.55 GUCY2D AIPL1
9 photoreceptor cell outer segment organization GO:0035845 9.54 NPHP4 CRB1
10 detection of light stimulus involved in visual perception GO:0050908 9.54 TULP1 RPE65 CRB1
11 retina morphogenesis in camera-type eye GO:0060042 9.51 RPE65 CRB1
12 photoreceptor cell maintenance GO:0045494 9.5 TULP1 SPATA7 RDH12 NPHP4 LCA5 IQCB1
13 vitamin A metabolic process GO:0006776 9.49 RPE65 LRAT
14 protein localization to photoreceptor outer segment GO:1903546 9.46 TULP1 SPATA7
15 visual perception GO:0007601 9.4 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3

Sources for Leber Congenital Amaurosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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