LCA12
MCID: LBR007
MIFTS: 44

Leber Congenital Amaurosis 12 (LCA12)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 12

MalaCards integrated aliases for Leber Congenital Amaurosis 12:

Name: Leber Congenital Amaurosis 12 57 11 73 28 12 5 43 14 71
Lca12 57 11 73
Leber Congenital Amaurosis, Type 12 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
funduscopy before 2 years of age is unremarkable


Classifications:



External Ids:

Disease Ontology 11 DOID:0110080
OMIM® 57 610612
OMIM Phenotypic Series 57 PS204000
ICD10 31 H35.5
MedGen 40 C1857743
SNOMED-CT via HPO 69 563001 95486002
UMLS 71 C1857743

Summaries for Leber Congenital Amaurosis 12

OMIM®: 57 Leber congenital amaurosis-12 (LCA12) is characterized by congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit from birth, early onset and long-lasting digitoocular signs of Franceschetti, and mild to moderate hyperopia. Photoaversion is usually present. Visual acuity, when measurable, is reduced to counting fingers, hand movements, or light perception (summary by Perrault et al., 2013). (610612) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 12, also known as lca12, is related to cone-rod dystrophy 6 and leber congenital amaurosis 1. An important gene associated with Leber Congenital Amaurosis 12 is RD3 (RD3 Regulator Of GUCY2D), and among its related pathways/superpathways are Olfactory Signaling Pathway and Visual phototransduction. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and abnormality of macular pigmentation

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 RD3 gene on chromosome 1q32.

Related Diseases for Leber Congenital Amaurosis 12

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 6 29.9 RD3 GUCY2F GUCY2D GUCA1B GUCA1A
2 leber congenital amaurosis 1 29.1 RPE65 RD3 LCA5 GUCY2F GUCY2D GUCA1A
3 retinal degeneration 28.5 SPATA7 RPE65 RD3 GUCY2D GUCA1B GUCA1A
4 leber plus disease 27.1 SPATA7 RPE65 RD3 LCA5 KCNJ13 IQCB1
5 retinal cone dystrophy 1 10.2 GUCY2D GUCA1A
6 cone-rod dystrophy 3 10.2 GUCY2D GUCA1A
7 progressive cone dystrophy 10.2 GUCY2D GUCA1A
8 cone-rod dystrophy 17 10.1 GUCY2D AIPL1
9 nephronophthisis 4 10.1 GUCA1B GUCA1A
10 occult macular dystrophy 10.1 GUCY2D GUCA1A
11 retinitis pigmentosa 38 10.1 GUCY2D AIPL1
12 intellectual developmental disorder, autosomal dominant 3 10.1 RD3 GUCY2D GUCA1B
13 pigmented paravenous chorioretinal atrophy 10.1 GUCY2D AIPL1
14 cold-induced sweating syndrome 3 10.1 RPE65 GUCY2D
15 blue cone monochromacy 10.0 GUCY2D GUCA1A
16 peripheral retinal degeneration 10.0
17 scotoma 10.0 RPE65 GUCY2D GUCA1A
18 choroid disease 9.9 RPE65 GUCY2D
19 hereditary retinal dystrophy 9.9 SPATA7 RPE65 GUCY2D
20 night blindness 9.9 RPE65 GUCY2D GRK1
21 cone-rod dystrophy 13 9.9 SPATA7 IQCB1
22 blood group, globoside system 9.9 RPE65 RD3 AIPL1
23 prolonged electroretinal response suppression 9.9 GUCA1A GRK1
24 physical disorder 9.9 RPE65 GUCY2D AIPL1
25 severe early-childhood-onset retinal dystrophy 9.8 SPATA7 RPE65 LCA5
26 retinal disease 9.8 RPE65 GUCY2D GUCA1A
27 partial central choroid dystrophy 9.8 RPE65 GUCY2D GUCA1B GUCA1A
28 fundus albipunctatus 9.8 RPE65 GUCY2D GRK1
29 hereditary choroidal atrophy 9.8 RPE65 GUCY2D GUCA1B GUCA1A
30 usher syndrome type 2 9.8 RPE65 GUCY2D GRK1
31 pseudopapilledema 9.8 RPE65 RD3 GUCY2D AIPL1
32 leber congenital amaurosis 7 9.8 SPATA7 LCA5 GUCY2D AIPL1
33 retinitis pigmentosa 3 9.8 IQCB1 GRK1
34 leber congenital amaurosis 6 9.8 SPATA7 LCA5 GUCY2D AIPL1
35 late-onset retinal degeneration 9.8 RPE65 GUCY2D GUCA1A AIPL1
36 gyrate atrophy of choroid and retina 9.8 RPE65 GUCA1A
37 vitelliform macular dystrophy 9.7 RPE65 GUCY2D GUCA1A GRK1
38 enhanced s-cone syndrome 9.6 RPE65 GUCY2D GRK1 AIPL1
39 retinoschisis 1, x-linked, juvenile 9.6 RPE65 GUCY2D GRK1 AIPL1
40 choroidal dystrophy, central areolar, 1 9.6 RPE65 GUCY2D GUCA1B GUCA1A AIPL1
41 nephronophthisis 9.6 SPATA7 LCA5 IQCB1
42 leber congenital amaurosis 8 9.5 SPATA7 RPE65 LCA5 GUCY2D AIPL1
43 leber congenital amaurosis 9 9.5 SPATA7 RPE65 LCA5 GUCY2D AIPL1
44 color blindness 9.5 RPE65 GUCY2D GUCA1A GRK1 AIPL1
45 leber congenital amaurosis 2 9.4 SPATA7 RPE65 RD3 LCA5 GUCY2D AIPL1
46 coloboma of macula 9.3 RPE65 LCA5 IQCB1 GUCY2D AIPL1
47 senior-loken syndrome 1 9.1 SPATA7 RPE65 LCA5 IQCB1 GUCY2D AIPL1
48 eye degenerative disease 9.1 RPE65 IQCB1 GUCY2D GUCA1A GRK1 AIPL1
49 leber congenital amaurosis 11 9.1 SPATA7 LCA5 KCNJ13 IQCB1 GUCY2D AIPL1
50 bardet-biedl syndrome 9.1 SPATA7 RPE65 LCA5 IQCB1 GUCY2D AIPL1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 12:



Diseases related to Leber Congenital Amaurosis 12

Symptoms & Phenotypes for Leber Congenital Amaurosis 12

Human phenotypes related to Leber Congenital Amaurosis 12:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 HP:0000639
2 abnormality of macular pigmentation 30 HP:0008002
3 congenital blindness 30 HP:0007875

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
attenuated retinal vessels
decreased color vision
absence of ocular pursuit since birth
digitoocular sign of franceschetti
progressively decreasing vision to light perception only
more

Clinical features from OMIM®:

610612 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 12:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.65 AIPL1 GRK1 GUCA1A GUCY2D GUCY2F LCA5
2 vision/eye MP:0005391 9.36 AIPL1 GRK1 GUCA1A GUCA1B GUCY2D GUCY2F

Drugs & Therapeutics for Leber Congenital Amaurosis 12

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 12

Cochrane evidence based reviews: leber congenital amaurosis 12

Genetic Tests for Leber Congenital Amaurosis 12

Genetic tests related to Leber Congenital Amaurosis 12:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 12 28 RD3

Anatomical Context for Leber Congenital Amaurosis 12

Organs/tissues related to Leber Congenital Amaurosis 12:

MalaCards : Retina, Eye, Bone

Publications for Leber Congenital Amaurosis 12

Articles related to Leber Congenital Amaurosis 12:

(show all 16)
# Title Authors PMID Year
1
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. 62 57 5
23308101 2013
2
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. 62 57 5
22531706 2012
3
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. 57 5
17186464 2006
4
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. 5
29068479 2018
5
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. 5
27422788 2016
6
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
7
Statistical features of human exons and their flanking regions. 5
9536098 1998
8
GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress. 62
31980596 2020
9
Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3. 62
29515371 2018
10
Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. 62
27150101 2016
11
Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis. 62
24904271 2014
12
RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. 62
23740938 2013
13
RD3: a challenge and a promise. 62
25679013 2013
14
Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. 62
21928830 2011
15
RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. 62
21078983 2010
16
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301475 2004

Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

5 (show top 50) (show all 182)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RD3 NM_001164688.2(RD3):c.137_138del (p.Glu46fs) DEL Pathogenic
189793 rs786205149 GRCh37: 1:211654620-211654621
GRCh38: 1:211481278-211481279
2 RD3 NM_001164688.2(RD3):c.136G>T (p.Glu46Ter) SNV Pathogenic
189794 rs786205150 GRCh37: 1:211654622-211654622
GRCh38: 1:211481280-211481280
3 RD3 NM_001164688.2(RD3):c.13_14del (p.Ser5fs) MICROSAT Pathogenic
1458859 GRCh37: 1:211654744-211654745
GRCh38: 1:211481402-211481403
4 RD3 NM_001164688.2(RD3):c.296+1G>A SNV Pathogenic
13121 rs386834260 GRCh37: 1:211654461-211654461
GRCh38: 1:211481119-211481119
5 RD3 NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) SNV Pathogenic
189792 rs786205148 GRCh37: 1:211654646-211654646
GRCh38: 1:211481304-211481304
6 RD3 NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter) SNV Pathogenic
189791 rs762631020 GRCh37: 1:211654578-211654578
GRCh38: 1:211481236-211481236
7 RD3 NM_001164688.2(RD3):c.296+1G>T SNV Pathogenic
1388540 GRCh37: 1:211654461-211654461
GRCh38: 1:211481119-211481119
8 RD3 NM_001164688.2(RD3):c.494A>C (p.Asp165Ala) SNV Conflicting Interpretations Of Pathogenicity
767424 rs149051185 GRCh37: 1:211652472-211652472
GRCh38: 1:211479130-211479130
9 RD3 NM_001164688.2(RD3):c.139C>T (p.Arg47Cys) SNV Conflicting Interpretations Of Pathogenicity
167572 rs34049451 GRCh37: 1:211654619-211654619
GRCh38: 1:211481277-211481277
10 RD3 NM_001164688.2(RD3):c.102G>A (p.Thr34=) SNV Conflicting Interpretations Of Pathogenicity
733845 rs199511076 GRCh37: 1:211654656-211654656
GRCh38: 1:211481314-211481314
11 RD3 NM_001164688.2(RD3):c.519G>A (p.Val173=) SNV Conflicting Interpretations Of Pathogenicity
772783 rs139419737 GRCh37: 1:211652447-211652447
GRCh38: 1:211479105-211479105
12 RD3 NM_001164688.2(RD3):c.283C>T (p.Pro95Ser) SNV Uncertain Significance
838670 rs759162527 GRCh37: 1:211654475-211654475
GRCh38: 1:211481133-211481133
13 RD3 NM_001164688.2(RD3):c.386T>A (p.Met129Lys) SNV Uncertain Significance
842065 rs1401610655 GRCh37: 1:211652580-211652580
GRCh38: 1:211479238-211479238
14 RD3 NM_001164688.2(RD3):c.473G>T (p.Arg158Leu) SNV Uncertain Significance
858743 rs748059354 GRCh37: 1:211652493-211652493
GRCh38: 1:211479151-211479151
15 RD3 NM_001164688.2(RD3):c.365T>G (p.Leu122Arg) SNV Uncertain Significance
1353278 GRCh37: 1:211652601-211652601
GRCh38: 1:211479259-211479259
16 RD3 NM_001164688.2(RD3):c.23G>A (p.Arg8Gln) SNV Uncertain Significance
1394609 GRCh37: 1:211654735-211654735
GRCh38: 1:211481393-211481393
17 RD3 NM_001164688.2(RD3):c.170G>T (p.Gly57Val) SNV Uncertain Significance
1403723 GRCh37: 1:211654588-211654588
GRCh38: 1:211481246-211481246
18 RD3 NM_001164688.2(RD3):c.545G>T (p.Arg182Leu) SNV Uncertain Significance
1425041 GRCh37: 1:211652421-211652421
GRCh38: 1:211479079-211479079
19 RD3 NM_001164688.2(RD3):c.2T>C (p.Met1Thr) SNV Uncertain Significance
1438092 GRCh37: 1:211654756-211654756
GRCh38: 1:211481414-211481414
20 RD3 NM_183059.2(RD3):c.-925G>A SNV Uncertain Significance
295300 rs182459299 GRCh37: 1:211666020-211666020
GRCh38: 1:211492678-211492678
21 RD3 NM_183059.2(RD3):c.-1118A>T SNV Uncertain Significance
295303 rs748107586 GRCh37: 1:211666213-211666213
GRCh38: 1:211492871-211492871
22 RD3 NM_183059.2(RD3):c.-712G>C SNV Uncertain Significance
295297 rs886045919 GRCh37: 1:211665807-211665807
GRCh38: 1:211492465-211492465
23 RD3 NM_183059.2(RD3):c.-505C>T SNV Uncertain Significance
295292 rs570507460 GRCh37: 1:211665600-211665600
GRCh38: 1:211492258-211492258
24 RD3 NM_183059.2(RD3):c.-572G>A SNV Uncertain Significance
295295 rs139370470 GRCh37: 1:211665667-211665667
GRCh38: 1:211492325-211492325
25 RD3 NM_183059.2(RD3):c.-714G>C SNV Uncertain Significance
295298 rs561881146 GRCh37: 1:211665809-211665809
GRCh38: 1:211492467-211492467
26 RD3 NM_183059.2(RD3):c.-1034G>A SNV Uncertain Significance
295301 rs146780723 GRCh37: 1:211666129-211666129
GRCh38: 1:211492787-211492787
27 RD3 NM_183059.2(RD3):c.-1120G>A SNV Uncertain Significance
295304 rs886045920 GRCh37: 1:211666215-211666215
GRCh38: 1:211492873-211492873
28 RD3 NM_183059.2(RD3):c.-495T>G SNV Uncertain Significance
295290 rs147349161 GRCh37: 1:211665590-211665590
GRCh38: 1:211492248-211492248
29 RD3 NM_183059.2(RD3):c.-539G>T SNV Uncertain Significance
295293 rs143497175 GRCh37: 1:211665634-211665634
GRCh38: 1:211492292-211492292
30 RD3 NM_183059.2(RD3):c.-640G>A SNV Uncertain Significance
295296 rs190249862 GRCh37: 1:211665735-211665735
GRCh38: 1:211492393-211492393
31 RD3 NM_183059.2(RD3):c.-884C>A SNV Uncertain Significance
295299 rs781387518 GRCh37: 1:211665979-211665979
GRCh38: 1:211492637-211492637
32 RD3 NM_183059.2(RD3):c.-1052C>A SNV Uncertain Significance
295302 rs187461760 GRCh37: 1:211666147-211666147
GRCh38: 1:211492805-211492805
33 RD3 NM_001164688.2(RD3):c.61C>T (p.Pro21Ser) SNV Uncertain Significance
1356076 GRCh37: 1:211654697-211654697
GRCh38: 1:211481355-211481355
34 RD3 NM_001164688.2(RD3):c.206C>T (p.Ser69Phe) SNV Uncertain Significance
1370807 GRCh37: 1:211654552-211654552
GRCh38: 1:211481210-211481210
35 RD3 NM_001164688.2(RD3):c.446G>T (p.Ser149Ile) SNV Uncertain Significance
1381527 GRCh37: 1:211652520-211652520
GRCh38: 1:211479178-211479178
36 RD3 NM_001164688.2(RD3):c.169G>T (p.Gly57Cys) SNV Uncertain Significance
1438168 GRCh37: 1:211654589-211654589
GRCh38: 1:211481247-211481247
37 RD3 NM_001164688.2(RD3):c.577A>G (p.Lys193Glu) SNV Uncertain Significance
1367419 GRCh37: 1:211652389-211652389
GRCh38: 1:211479047-211479047
38 RD3 NM_001164688.2(RD3):c.169G>A (p.Gly57Ser) SNV Uncertain Significance
1430354 GRCh37: 1:211654589-211654589
GRCh38: 1:211481247-211481247
39 RD3 NM_001164688.2(RD3):c.160G>T (p.Val54Phe) SNV Uncertain Significance
1492382 GRCh37: 1:211654598-211654598
GRCh38: 1:211481256-211481256
40 RD3 NM_001164688.2(RD3):c.148G>A (p.Ala50Thr) SNV Uncertain Significance
1506094 GRCh37: 1:211654610-211654610
GRCh38: 1:211481268-211481268
41 RD3 NM_001164688.2(RD3):c.61C>G (p.Pro21Ala) SNV Uncertain Significance
1351389 GRCh37: 1:211654697-211654697
GRCh38: 1:211481355-211481355
42 RD3 NM_001164688.2(RD3):c.587G>C (p.Ter196Ser) SNV Uncertain Significance
1501944 GRCh37: 1:211652379-211652379
GRCh38: 1:211479037-211479037
43 RD3 NM_183059.2(RD3):c.-504G>A SNV Uncertain Significance
295291 rs886045918 GRCh37: 1:211665599-211665599
GRCh38: 1:211492257-211492257
44 RD3 NM_183059.2(RD3):c.-556G>A SNV Uncertain Significance
295294 rs181065744 GRCh37: 1:211665651-211665651
GRCh38: 1:211492309-211492309
45 RD3 NM_001164688.2(RD3):c.404C>T (p.Ala135Val) SNV Uncertain Significance
1434987 GRCh37: 1:211652562-211652562
GRCh38: 1:211479220-211479220
46 RD3 NM_001164688.2(RD3):c.559C>G (p.Pro187Ala) SNV Uncertain Significance
1406305 GRCh37: 1:211652407-211652407
GRCh38: 1:211479065-211479065
47 RD3 NM_001164688.2(RD3):c.368A>T (p.Gln123Leu) SNV Uncertain Significance
1002125 rs764736043 GRCh37: 1:211652598-211652598
GRCh38: 1:211479256-211479256
48 RD3 NM_001164688.2(RD3):c.94G>C (p.Glu32Gln) SNV Uncertain Significance
844426 rs368003568 GRCh37: 1:211654664-211654664
GRCh38: 1:211481322-211481322
49 RD3 NM_001164688.2(RD3):c.202C>T (p.Arg68Trp) SNV Uncertain Significance
466320 rs144697496 GRCh37: 1:211654556-211654556
GRCh38: 1:211481214-211481214
50 RD3 NM_001164688.2(RD3):c.149C>A (p.Ala50Glu) SNV Uncertain Significance
1516779 GRCh37: 1:211654609-211654609
GRCh38: 1:211481267-211481267

Expression for Leber Congenital Amaurosis 12

Search GEO for disease gene expression data for Leber Congenital Amaurosis 12.

Pathways for Leber Congenital Amaurosis 12

GO Terms for Leber Congenital Amaurosis 12

Cellular components related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.97 RD3 GUCA1B GUCA1A AIPL1
2 photoreceptor connecting cilium GO:0032391 9.88 SPATA7 LCA5 IQCB1
3 cell projection GO:0042995 9.86 SPATA7 RD3 LCA5 GUCY2F GUCY2D GUCA1B
4 cone photoreceptor outer segment GO:0120199 9.8 RD3 GUCA1B GUCA1A
5 photoreceptor disc membrane GO:0097381 9.65 GUCY2F GUCY2D GUCA1B GUCA1A GRK1
6 rod photoreceptor outer segment GO:0120200 9.63 GUCY2F RD3 SPATA7
7 photoreceptor outer segment GO:0001750 9.32 SPATA7 RD3 IQCB1 GUCY2D GUCA1B GUCA1A

Biological processes related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.85 SPATA7 LCA5 IQCB1
2 cGMP-mediated signaling GO:0019934 9.8 GUCY2F GUCY2D
3 detection of light stimulus involved in visual perception GO:0050908 9.78 RPE65 GUCY2F
4 positive regulation of guanylate cyclase activity GO:0031284 9.76 GUCA1B GUCA1A
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.76 AIPL1 GRK1 GUCY2D GUCY2F
6 cGMP biosynthetic process GO:0006182 9.73 GUCY2F GUCY2D
7 receptor guanylyl cyclase signaling pathway GO:0007168 9.73 GUCY2F GUCY2D GUCA1B
8 response to stimulus GO:0050896 9.7 SPATA7 RPE65 RD3 GUCY2F GUCY2D GUCA1B
9 visual perception GO:0007601 9.58 SPATA7 RPE65 RD3 GUCY2F GUCY2D GUCA1B
10 regulation of guanylate cyclase activity GO:0031282 9.5 GUCA1B GUCA1A
11 cyclic nucleotide biosynthetic process GO:0009190 9.4 GUCY2F GUCY2D

Molecular functions related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanylate cyclase activity GO:0004383 9.46 GUCY2F GUCY2D
2 phosphorus-oxygen lyase activity GO:0016849 9.26 GUCY2F GUCY2D
3 calcium sensitive guanylate cyclase activator activity GO:0008048 9.26 GUCA1B GUCA1A
4 peptide receptor activity GO:0001653 8.92 GUCY2F GUCY2D

Sources for Leber Congenital Amaurosis 12

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
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