LCA15
MCID: LBR010
MIFTS: 41

Leber Congenital Amaurosis 15 (LCA15)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Leber Congenital Amaurosis 15

MalaCards integrated aliases for Leber Congenital Amaurosis 15:

Name: Leber Congenital Amaurosis 15 57 11 73 28 5 14 71
Lca15 57 11 73
Leber Congenital Amaurosis, Type 15 38

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0110189
OMIM® 57 613843
OMIM Phenotypic Series 57 PS204000
MeSH 43 D057130
ICD10 31 H35.5
MedGen 40 C3151206
UMLS 71 C3151206

Summaries for Leber Congenital Amaurosis 15

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 (summary by Gu et al., 1997). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (613843) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 15, also known as lca15, is related to cone-rod dystrophy 18 and severe early-childhood-onset retinal dystrophy. An important gene associated with Leber Congenital Amaurosis 15 is TULP1 (TUB Like Protein 1), and among its related pathways/superpathways are Ciliary landscape and Bardet-Biedl syndrome. Affiliated tissues include retina and eye, and related phenotypes are hypermetropia and retinopathy

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A Leber congenital amaurosis that has material basis in mutation in the TULP1 gene on chromosome 6p21.3.

Related Diseases for Leber Congenital Amaurosis 15

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 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 18 10.1 LCA5 CLUAP1
2 severe early-childhood-onset retinal dystrophy 10.1 SPATA7 LCA5
3 cone-rod dystrophy 13 10.1 SPATA7 IQCB1
4 pseudoretinitis pigmentosa 10.1 TULP1 IMPDH1
5 cone-rod dystrophy 17 10.0 GUCY2D AIPL1
6 hereditary retinal dystrophy 10.0 SPATA7 GUCY2D
7 retinitis pigmentosa 38 10.0 GUCY2D AIPL1
8 pigmented paravenous chorioretinal atrophy 10.0 GUCY2D AIPL1
9 stargardt disease 1 9.9 TULP1 RDH12
10 enhanced s-cone syndrome 9.9 GUCY2D AIPL1
11 choroidal dystrophy, central areolar, 1 9.9 GUCY2D AIPL1
12 late-onset retinal degeneration 9.9 TULP1 GUCY2D AIPL1
13 nephronophthisis 9.9 SPATA7 LCA5 IQCB1
14 color blindness 9.8 GUCY2D AIPL1
15 night blindness 9.8 TULP1 RDH12 GUCY2D
16 intellectual developmental disorder, autosomal dominant 3 9.8 RD3 GUCY2D
17 fundus albipunctatus 9.8 TULP1 RDH12 GUCY2D
18 cone-rod dystrophy 6 9.7 RD3 GUCY2D
19 retinoschisis 1, x-linked, juvenile 9.7 GUCY2D AIPL1
20 usher syndrome, type iia 9.6 RD3 AIPL1
21 leber congenital amaurosis 1 9.6 TULP1 RD3 LCA5 GUCY2D
22 blood group, globoside system 9.4 TULP1 RDH12 RD3 AIPL1
23 leber congenital amaurosis 7 9.4 SPATA7 RDH12 LCA5 GUCY2D AIPL1
24 coloboma of macula 9.4 RDH12 LCA5 IQCB1 GUCY2D AIPL1
25 pseudopapilledema 9.3 RDH12 RD3 GUCY2D AIPL1
26 stargardt disease 9.2 TULP1 SPATA7 RDH12 IQCB1 GUCY2D AIPL1
27 eye degenerative disease 9.1 TULP1 RDH12 IQCB1 IMPDH1 GUCY2D AIPL1
28 leber congenital amaurosis 14 9.1 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
29 cone dystrophy 9.1 TULP1 SPATA7 RDH12 LCA5 IQCB1 GUCY2D
30 leber congenital amaurosis 8 9.0 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
31 leber congenital amaurosis 6 9.0 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
32 leber congenital amaurosis 9 9.0 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
33 eye disease 9.0 TULP1 RDH12 RD3 IQCB1 GUCY2D AIPL1
34 leber congenital amaurosis 12 8.9 SPATA7 RD3 LCA5 KCNJ13 IQCB1 GUCY2D
35 bardet-biedl syndrome 8.9 TULP1 SPATA7 RDH12 LCA5 IQCB1 GUCY2D
36 leber congenital amaurosis 16 8.9 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
37 leber congenital amaurosis 13 8.9 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
38 leber congenital amaurosis 2 8.8 TULP1 SPATA7 RDH12 RD3 LCA5 GUCY2D
39 usher syndrome 8.8 TULP1 SPATA7 RDH12 LCA5 IQCB1 IMPDH1
40 retinal degeneration 8.7 TULP1 SPATA7 RDH12 RD3 IMPDH1 GUCY2D
41 achromatopsia 8.7 TULP1 SPATA7 RDH12 RD3 LCA5 IQCB1
42 senior-loken syndrome 1 8.6 TULP1 SPATA7 RDH12 LCA5 IQCB1 IMPDH1
43 leber congenital amaurosis 11 8.6 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
44 congenital stationary night blindness 8.6 TULP1 RDH12 RD3 LCA5 IQCB1 IMPDH1
45 leber congenital amaurosis 10 8.4 TULP1 SPATA7 RDH12 RD3 LCA5 KCNJ13
46 keratoconus 8.4 TULP1 SPATA7 RDH12 RD3 LCA5 IQCB1
47 leber congenital amaurosis 4 8.4 TULP1 SPATA7 RDH12 RD3 LCA5 IQCB1
48 leber congenital amaurosis 3 8.4 TULP1 SPATA7 RDH12 RD3 LCA5 IQCB1
49 joubert syndrome 1 8.2 TULP1 SPATA7 RDH12 RD3 LCA5 IQCB1
50 fundus dystrophy 8.0 TULP1 SPATA7 RDH12 RD3 LCA5 KCNJ13

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 15:



Diseases related to Leber Congenital Amaurosis 15

Symptoms & Phenotypes for Leber Congenital Amaurosis 15

Human phenotypes related to Leber Congenital Amaurosis 15:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypermetropia 30 Occasional (7.5%) HP:0000540
2 retinopathy 30 HP:0000488
3 myopia 30 HP:0000545
4 nyctalopia 30 HP:0000662
5 color vision defect 30 HP:0000551
6 rod-cone dystrophy 30 HP:0000510
7 optic disc pallor 30 HP:0000543
8 pigmentary retinopathy 30 HP:0000580
9 retinal degeneration 30 HP:0000546
10 constriction of peripheral visual field 30 HP:0001133
11 congenital nystagmus 30 HP:0006934
12 impaired smooth pursuit 30 HP:0007772
13 slow pupillary light response 30 HP:0030211

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
myopia
night blindness
hyperopia (in some patients)
poor vision at birth
vision loss, progressive, during childhood or adolescence
more

Clinical features from OMIM®:

613843 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 15:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 AIPL1 CLUAP1 GUCY2D LCA5 RD3 RDH12
2 vision/eye MP:0005391 9.28 AIPL1 GUCY2D IMPDH1 IQCB1 LCA5 RD3

Drugs & Therapeutics for Leber Congenital Amaurosis 15

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 15

Genetic Tests for Leber Congenital Amaurosis 15

Genetic tests related to Leber Congenital Amaurosis 15:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 15 28 TULP1

Anatomical Context for Leber Congenital Amaurosis 15

Organs/tissues related to Leber Congenital Amaurosis 15:

MalaCards : Retina, Eye

Publications for Leber Congenital Amaurosis 15

Articles related to Leber Congenital Amaurosis 15:

(show all 11)
# Title Authors PMID Year
1
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 57 5
17962469 2007
2
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 57 5
15024725 2004
3
Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms. 5
26448634 2016
4
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 5
26047050 2015
5
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa. 5
22665969 2012
6
Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening. 5
19339744 2009
7
Mutation survey of known LCA genes and loci in the Saudi Arabian population. 5
18936139 2009
8
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 57
18055821 2007
9
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. 5
9462750 1998
10
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 57
9326941 1997
11
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301475 2004

Variations for Leber Congenital Amaurosis 15

ClinVar genetic disease variations for Leber Congenital Amaurosis 15:

5 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TULP1 NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter) SNV Pathogenic
30260 rs387906835 GRCh37: 6:35471534-35471534
GRCh38: 6:35503757-35503757
2 TULP1 NM_003322.6(TULP1):c.794del (p.Lys265fs) DEL Pathogenic
829968 rs1581742615 GRCh37: 6:35477014-35477014
GRCh38: 6:35509237-35509237
3 TULP1 NM_003322.6(TULP1):c.1112+2T>G SNV Pathogenic
931832 rs1761066725 GRCh37: 6:35473516-35473516
GRCh38: 6:35505739-35505739
4 TULP1 NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter) SNV Pathogenic
450005 rs767030473 GRCh37: 6:35473606-35473606
GRCh38: 6:35505829-35505829
5 TULP1 NM_003322.6(TULP1):c.790C>T (p.Gln264Ter) SNV Pathogenic
1675201 GRCh37: 6:35477018-35477018
GRCh38: 6:35509241-35509241
6 TULP1 NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla) DUP Pathogenic
30263 GRCh37: 6:35466145-35466146
GRCh38: 6:35498368-35498369
7 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) SNV Pathogenic
30261 rs387906836 GRCh37: 6:35471540-35471540
GRCh38: 6:35503763-35503763
8 TULP1 NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) SNV Pathogenic
30262 rs387906837 GRCh37: 6:35473528-35473528
GRCh38: 6:35505751-35505751
9 TULP1 NM_003322.6(TULP1):c.100C>T (p.Arg34Ter) SNV Pathogenic
867084 rs1331834680 GRCh37: 6:35480047-35480047
GRCh38: 6:35512270-35512270
10 TULP1 NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter) SNV Pathogenic
866967 rs751589956 GRCh37: 6:35471341-35471341
GRCh38: 6:35503564-35503564
11 TULP1 NM_003322.6(TULP1):c.1495+1G>A SNV Pathogenic
99665 rs281865168 GRCh37: 6:35467757-35467757
GRCh38: 6:35499980-35499980
12 TULP1 NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) SNV Pathogenic
828151 rs201070350 GRCh37: 6:35473878-35473878
GRCh38: 6:35506101-35506101
13 TULP1 NM_003322.6(TULP1):c.568G>T (p.Glu190Ter) SNV Pathogenic
987369 rs1761161294 GRCh37: 6:35477637-35477637
GRCh38: 6:35509860-35509860
14 TULP1 NM_003322.6(TULP1):c.1081del (p.Arg361fs) DEL Pathogenic
977976 rs1761067640 GRCh37: 6:35473549-35473549
GRCh38: 6:35505772-35505772
15 TULP1 NM_003322.6(TULP1):c.148del (p.Glu50fs) DEL Pathogenic
977975 rs779910894 GRCh37: 6:35479999-35479999
GRCh38: 6:35512222-35512222
16 TULP1 NM_003322.6(TULP1):c.99+1G>A SNV Pathogenic
99675 rs281865166 GRCh37: 6:35480415-35480415
GRCh38: 6:35512638-35512638
17 TULP1 NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys) SNV Likely Pathogenic
977978 rs751036771 GRCh37: 6:35466211-35466211
GRCh38: 6:35498434-35498434
18 TULP1 NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys) SNV Likely Pathogenic
977977 rs387906835 GRCh37: 6:35471534-35471534
GRCh38: 6:35503757-35503757
19 TULP1 NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys) SNV Likely Pathogenic
930507 rs551519696 GRCh37: 6:35471401-35471401
GRCh38: 6:35503624-35503624
20 TULP1 NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln) SNV Likely Pathogenic
852847 rs748972748 GRCh37: 6:35471539-35471539
GRCh38: 6:35503762-35503762
21 TULP1 NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu) SNV Likely Pathogenic
977979 rs1768748235 GRCh37: 6:35466121-35466121
GRCh38: 6:35498344-35498344
22 TULP1 NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln) SNV Likely Pathogenic
977980 rs146311742 GRCh37: 6:35467808-35467808
GRCh38: 6:35500031-35500031
23 TULP1 NM_003322.6(TULP1):c.139G>T (p.Glu47Ter) SNV Likely Pathogenic
932141 rs1761224205 GRCh37: 6:35480008-35480008
GRCh38: 6:35512231-35512231
24 TULP1 NM_003322.6(TULP1):c.999+5G>A SNV Uncertain Significance
1526153 GRCh37: 6:35473775-35473775
GRCh38: 6:35505998-35505998
25 TULP1 NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) SNV Uncertain Significance
356467 rs140460892 GRCh37: 6:35473904-35473904
GRCh38: 6:35506127-35506127
26 TULP1 NM_003322.6(TULP1):c.901C>G (p.Gln301Glu) SNV Uncertain Significance
904455 rs201070350 GRCh37: 6:35473878-35473878
GRCh38: 6:35506101-35506101
27 TULP1 NM_003322.6(TULP1):c.823-8G>A SNV Uncertain Significance
356468 rs372183095 GRCh37: 6:35474064-35474064
GRCh38: 6:35506287-35506287
28 TULP1 NM_003322.6(TULP1):c.499+12G>C SNV Uncertain Significance
356471 rs185636479 GRCh37: 6:35478626-35478626
GRCh38: 6:35510849-35510849
29 TULP1 NM_003322.6(TULP1):c.846G>A (p.Pro282=) SNV Uncertain Significance
287340 rs149980694 GRCh37: 6:35473933-35473933
GRCh38: 6:35506156-35506156
30 TULP1 NM_003322.6(TULP1):c.249G>A (p.Ala83=) SNV Uncertain Significance
356474 rs377105125 GRCh37: 6:35479525-35479525
GRCh38: 6:35511748-35511748
31 TULP1 NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) SNV Uncertain Significance
356470 rs142641513 GRCh37: 6:35477661-35477661
GRCh38: 6:35509884-35509884
32 TULP1 NM_003322.6(TULP1):c.541G>C (p.Val181Leu) SNV Uncertain Significance
904521 rs576738703 GRCh37: 6:35477664-35477664
GRCh38: 6:35509887-35509887
33 TULP1 NM_003322.6(TULP1):c.*272C>G SNV Uncertain Significance
905194 rs1231614922 GRCh37: 6:35465832-35465832
GRCh38: 6:35498055-35498055
34 TULP1 NM_003322.6(TULP1):c.224C>T (p.Ser75Phe) SNV Uncertain Significance
905305 rs1244588827 GRCh37: 6:35479550-35479550
GRCh38: 6:35511773-35511773
35 TULP1 NM_003322.6(TULP1):c.1495+3G>A SNV Uncertain Significance
906795 rs758668547 GRCh37: 6:35467755-35467755
GRCh38: 6:35499978-35499978
36 TULP1 NM_003322.6(TULP1):c.682G>A (p.Glu228Lys) SNV Uncertain Significance
906837 rs1469121973 GRCh37: 6:35477447-35477447
GRCh38: 6:35509670-35509670
37 TULP1 NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) SNV Uncertain Significance
196359 rs781650198 GRCh37: 6:35479963-35479963
GRCh38: 6:35512186-35512186
38 TULP1 NM_003322.6(TULP1):c.1112+8T>C SNV Uncertain Significance
907780 rs1286919081 GRCh37: 6:35473510-35473510
GRCh38: 6:35505733-35505733
39 TULP1 NM_003322.6(TULP1):c.192T>C (p.Ala64=) SNV Uncertain Significance
356475 rs886061337 GRCh37: 6:35479582-35479582
GRCh38: 6:35511805-35511805
40 TULP1 NM_003322.6(TULP1):c.*278C>T SNV Uncertain Significance
356462 rs886061335 GRCh37: 6:35465826-35465826
GRCh38: 6:35498049-35498049
41 TULP1 NM_003322.6(TULP1):c.*305G>A SNV Uncertain Significance
356461 rs149035389 GRCh37: 6:35465799-35465799
GRCh38: 6:35498022-35498022
42 TULP1 NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) SNV Uncertain Significance
356476 rs148838796 GRCh37: 6:35480430-35480430
GRCh38: 6:35512653-35512653
43 TULP1 NM_003322.6(TULP1):c.26G>A (p.Arg9Gln) SNV Uncertain Significance
356477 rs886061338 GRCh37: 6:35480610-35480610
GRCh38: 6:35512833-35512833
44 TULP1 NM_003322.6(TULP1):c.254A>G (p.Gln85Arg) SNV Uncertain Significance
356473 rs754040672 GRCh37: 6:35479520-35479520
GRCh38: 6:35511743-35511743
45 TULP1 NM_003322.6(TULP1):c.*31C>T SNV Uncertain Significance
356465 rs886061336 GRCh37: 6:35466073-35466073
GRCh38: 6:35498296-35498296
46 TULP1 NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) SNV Uncertain Significance
356469 rs748334290 GRCh37: 6:35477646-35477646
GRCh38: 6:35509869-35509869
47 TULP1 NM_003322.6(TULP1):c.477G>C (p.Arg159Ser) SNV Uncertain Significance
356472 rs749882966 GRCh37: 6:35478660-35478660
GRCh38: 6:35510883-35510883
48 TULP1 NM_003322.6(TULP1):c.457G>A (p.Ala153Thr) SNV Uncertain Significance
1032121 rs145351282 GRCh37: 6:35478680-35478680
GRCh38: 6:35510903-35510903
49 TULP1 NM_003322.6(TULP1):c.1569C>T (p.Cys523=) SNV Uncertain Significance
905195 rs768536269 GRCh37: 6:35466164-35466164
GRCh38: 6:35498387-35498387
50 TULP1 NM_003322.6(TULP1):c.1563G>A (p.Pro521=) SNV Uncertain Significance
906794 rs1031077618 GRCh37: 6:35466170-35466170
GRCh38: 6:35498393-35498393

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 15:

73
# Symbol AA change Variation ID SNP ID
1 TULP1 p.Gly368Trp VAR_065500 rs387906837
2 TULP1 p.Arg400Trp VAR_065501 rs387906836

Expression for Leber Congenital Amaurosis 15

Search GEO for disease gene expression data for Leber Congenital Amaurosis 15.

Pathways for Leber Congenital Amaurosis 15

Pathways related to Leber Congenital Amaurosis 15 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.58 SPATA7 LCA5 IQCB1 CLUAP1
2
Show member pathways
11.47 LCA5 IQCB1 CLUAP1
3 10.97 TULP1 SPATA7 LCA5 IQCB1
4 10.62 RDH12 GUCY2D

GO Terms for Leber Congenital Amaurosis 15

Cellular components related to Leber Congenital Amaurosis 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.97 TULP1 LCA5 IQCB1 CLUAP1
2 cell projection GO:0042995 9.8 TULP1 SPATA7 RD3 LCA5 GUCY2D CLUAP1
3 photoreceptor connecting cilium GO:0032391 9.63 IQCB1 LCA5 SPATA7
4 rod photoreceptor outer segment GO:0120200 9.62 SPATA7 RD3
5 photoreceptor inner segment GO:0001917 9.56 TULP1 RDH12 RD3 AIPL1
6 photoreceptor outer segment GO:0001750 9.28 TULP1 SPATA7 RD3 IQCB1 GUCY2D

Biological processes related to Leber Congenital Amaurosis 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.76 TULP1 SPATA7 RDH12 RD3 GUCY2D AIPL1
2 visual perception GO:0007601 9.73 TULP1 SPATA7 RDH12 RD3 GUCY2D AIPL1
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.62 GUCY2D AIPL1
4 protein localization to photoreceptor outer segment GO:1903546 9.56 TULP1 SPATA7
5 photoreceptor cell maintenance GO:0045494 9.32 TULP1 SPATA7 RDH12 LCA5 IQCB1

Sources for Leber Congenital Amaurosis 15

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....