Leber Congenital Amaurosis 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leber Congenital Amaurosis 12

MalaCards integrated aliases for Leber Congenital Amaurosis 12:

Name: Leber Congenital Amaurosis 12 ⁵⁶ ¹² ⁵² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Lca12 ⁵⁶ ¹² ⁵² ⁷³

Amaurosis Congenita of Leber, Type 12 ⁵²

Leber Congenital Amaurosis, Type 12 ³⁹

Leber Congenital Amaurosis Type 12 ⁵²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
funduscopy before 2 years of age is unremarkable

HPO:

³¹

leber congenital amaurosis 12:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110080

OMIM ⁵⁶ 610612

OMIM Phenotypic Series ⁵⁶ PS204000

MeSH ⁴³ D057130

ICD10 ³² H35.5

MedGen ⁴¹ C1857743

SNOMED-CT via HPO ⁶⁸ 258211005 563001 95486002

UMLS ⁷¹ C1857743

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Summaries for Leber Congenital Amaurosis 12

UniProtKB/Swiss-Prot : ⁷³ Leber congenital amaurosis 12: 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.

MalaCards based summary : Leber Congenital Amaurosis 12, also known as lca12, is related to yemenite deaf-blind hypopigmentation syndrome and retinal degeneration. An important gene associated with Leber Congenital Amaurosis 12 is RD3 (Retinal Degeneration 3, GUCY2D Regulator), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and abnormality of macular pigmentation

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the RD3 gene on chromosome 1q32.

More information from OMIM: 610612 PS204000

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Related Diseases for Leber Congenital Amaurosis 12

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1	Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3	Leber Congenital Amaurosis 4
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 54)

#	Related Disease	Score	Top Affiliating Genes
1	yemenite deaf-blind hypopigmentation syndrome	30.0	RPE65 GUCY2D AIPL1
2	retinal degeneration	26.4	SPATA7 RPE65 RDH12 RD3 NMNAT1 IMPDH1
3	leber congenital amaurosis 1	26.0	SPATA7 RPE65 RDH12 RD3 NMNAT1 LCA5
4	leber congenital amaurosis	26.0	SPATA7 RPE65 RDH12 RD3 NMNAT1 LCA5
5	bardet-biedl syndrome 4	10.0	GUCA1B GUCA1A
6	retinitis pigmentosa 51	10.0	RD3 NMNAT1
7	cone-rod dystrophy 12	10.0	GUCY2D GUCA1A AIPL1
8	choroid disease	10.0	RPE65 GUCY2D
9	leber congenital amaurosis / early-onset severe retinal dystrophy	10.0	RPE65 AIPL1
10	cone-rod dystrophy 8	10.0	LCA5 GUCY2D AIPL1
11	partial central choroid dystrophy	9.9	GUCY2D GUCA1B GUCA1A
12	hereditary choroidal atrophy	9.9	GUCY2D GUCA1B GUCA1A
13	scotoma	9.9	RPE65 GUCY2D
14	retinitis pigmentosa 7	9.9	GUCA1B GUCA1A
15	severe early-childhood-onset retinal dystrophy	9.8	SPATA7 RPE65 LCA5
16	cone dystrophy	9.8	RPE65 GUCY2D GUCA1A
17	color blindness	9.8	RPE65 GUCY2D AIPL1
18	leber congenital amaurosis 16	9.7	SPATA7 LCA5 GUCY2D AIPL1
19	enhanced s-cone syndrome	9.7	RPE65 AIPL1
20	retinitis pigmentosa 63	9.7	IMPDH1 GUCA1B
21	retinoschisis 1, x-linked, juvenile	9.6	RPE65 AIPL1
22	leber congenital amaurosis 13	9.5	SPATA7 RDH12 LCA5 AIPL1
23	hereditary retinal dystrophy	9.4	SPATA7 RPE65 RDH12 GUCY2D
24	usher syndrome	9.4	RPE65 RDH12 LCA5 GUCA1A
25	pseudopapilledema	9.4	RPE65 RDH12 GUCY2D AIPL1
26	cone-rod dystrophy 6	9.4	RPE65 RD3 GUCY2D GUCA1B GUCA1A
27	inherited retinal disorder	9.4	RPE65 RDH12 LCA5 GUCY2D
28	choroidal dystrophy, central areolar, 1	9.1	SPATA7 RPE65 GUCY2D GUCA1B GUCA1A AIPL1
29	eye disease	9.1	RPE65 RDH12 GUCY2D GUCA1A AIPL1
30	cone-rod dystrophy 2	9.0	RPE65 RD3 NMNAT1 GUCY2D GUCA1A AIPL1
31	stargardt disease	8.9	RPE65 RDH12 LCA5 GUCY2D GUCA1A AIPL1
32	leber congenital amaurosis 5	8.7	SPATA7 RDH12 RD3 LCA5 IMPDH1 AIPL1
33	leber congenital amaurosis 11	8.7	SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
34	leber congenital amaurosis 8	8.7	SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
35	leber congenital amaurosis 7	8.7	SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
36	usher syndrome, type iiia	8.7	RPE65 RDH12 LCA5 IMPDH1 AIPL1
37	leber congenital amaurosis 6	8.7	SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
38	congenital stationary night blindness	8.6	RPE65 RDH12 LCA5 GUCY2D GUCA1B GUCA1A
39	leber congenital amaurosis 15	8.5	SPATA7 RDH12 NMNAT1 LCA5 IMPDH1 AIPL1
40	leber congenital amaurosis 14	8.5	SPATA7 RDH12 NMNAT1 LCA5 IMPDH1 AIPL1
41	achromatopsia	8.4	SPATA7 RPE65 RDH12 RD3 NMNAT1 GUCY2D
42	leber congenital amaurosis 10	8.3	SPATA7 RPE65 RDH12 LCA5 IMPDH1 GUCY2D
43	senior-loken syndrome 1	8.3	SPATA7 RPE65 RDH12 LCA5 IMPDH1 GUCY2D
44	bardet-biedl syndrome	8.2	SPATA7 RPE65 RDH12 LCA5 IMPDH1 GUCY2D
45	retinal disease	8.2	RPE65 RDH12 IMPDH1 GUCY2D GUCA1B GUCA1A
46	leber congenital amaurosis 4	8.1	SPATA7 RPE65 RDH12 RD3 LCA5 IMPDH1
47	leber congenital amaurosis 3	8.1	SPATA7 RPE65 RDH12 RD3 LCA5 IMPDH1
48	leber congenital amaurosis 2	8.1	SPATA7 RPE65 RDH12 RD3 LCA5 IMPDH1
49	joubert syndrome 1	8.1	SPATA7 RPE65 RDH12 RD3 LCA5 IMPDH1
50	pathologic nystagmus	7.9	SPATA7 RPE65 RDH12 NMNAT1 LCA5 IMPDH1

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

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Symptoms & Phenotypes for Leber Congenital Amaurosis 12

Human phenotypes related to Leber Congenital Amaurosis 12:

³¹

#	Description	HPO Source Accession
1	nystagmus ³¹	HP:0000639
2	abnormality of macular pigmentation ³¹	HP:0008002
3	congenital blindness ³¹	HP:0007875

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
attenuated 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

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased HPV16-GFP infection	GR00350-A	8.8	IMPDH1 RDH12 RPE65

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 DNAJB12 GUCA1A GUCY2D LCA5 NMNAT1
2	vision/eye	MP:0005391	9.36	AIPL1 GUCA1A GUCA1B GUCY2D IMPDH1 LCA5

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Drugs & Therapeutics for Leber Congenital Amaurosis 12

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

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Genetic Tests for Leber Congenital Amaurosis 12

Genetic tests related to Leber Congenital Amaurosis 12:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 12 ²⁹	RD3

Sources

Anatomical Context for Leber Congenital Amaurosis 12

MalaCards organs/tissues related to Leber Congenital Amaurosis 12:

⁴⁰

Retina, Eye, Bone

Sources

Publications for Leber Congenital Amaurosis 12

Articles related to Leber Congenital Amaurosis 12:

(show all 18)

#	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. ⁶¹ ⁵⁶ ⁶	Perrault I...Rozet JM	23308101	2013
2	Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. ⁶¹ ⁵⁶ ⁶	Preising MN...Lorenz B	22531706	2012
3	Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. ⁵⁶ ⁶	Friedman JS...Swaroop A	17186464	2006
4	Leber Congenital Amaurosis ⁶¹ ⁶	Weleber RG...Beattie C	20301475	2004
5	Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview ⁶	Kumaran N...Michaelides M	30285347	2018
6	Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. ⁶	Abu-Safieh L...Alkuraya FS	23105016	2013
7	Genetics and molecular basis of human peroxisome biogenesis disorders. ⁶	Waterham HR...Ebberink MS	22871920	2012
8	Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. ⁶	Gartner J...Biermanns M	10384394	1999
9	Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. ⁶	Reuber BE...Gould SJ	9398847	1997
10	Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. ⁶	Portsteffen H...Dodt G	9398848	1997
11	GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress. ⁶¹	Plana-Bonamaiso A...Mendez A	31980596	2020
12	Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3. ⁶¹	Wimberg H...Koch KW	29515371	2018
13	Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. ⁶¹	Chang B	27150101	2016
14	Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis. ⁶¹	Molday LL...Molday RS	24904271	2014
15	RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. ⁶¹	Molday LL...Molday RS	23740938	2013
16	RD3: a challenge and a promise. ⁶¹	Azadi S	25679013	2013
17	Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. ⁶¹	Peshenko IV...Dizhoor AM	21928830	2011
18	RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. ⁶¹	Azadi S...Molday RS	21078983	2010

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Genes for Leber Congenital Amaurosis 12

Genes related to Leber Congenital Amaurosis 12 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RD3	Retinal Degeneration 3, GUCY2D Regulator	Protein Coding	1026.69	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23308101 22531706 30285347 (more) 20301475 17186464
2	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	7.19	DISEASES inferred ¹⁵
3	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	6.84	DISEASES inferred ¹⁵
4	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.64	DISEASES inferred ¹⁵
5	LCA5	Lebercilin LCA5	Protein Coding	6.44	DISEASES inferred ¹⁵
6	DNAJB12	DnaJ Heat Shock Protein Family (Hsp40) Member B12	Protein Coding	6.3	DISEASES inferred ¹⁵
7	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6.3	DISEASES inferred ¹⁵
8	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	6.19	DISEASES inferred ¹⁵
9	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.17	DISEASES inferred ¹⁵
10	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.14	DISEASES inferred ¹⁵
11	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	6.13	DISEASES inferred ¹⁵
12	NMNAT1	Nicotinamide Nucleotide Adenylyltransferase 1	Protein Coding	6.12	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RD3	NM_183059.2(RD3):c.180C>A (p.Tyr60Ter)	SNV	Pathogenic	189791	rs762631020	1:211654578-211654578	1:211481236-211481236
2	RD3	NM_183059.2(RD3):c.112C>T (p.Arg38Ter)	SNV	Pathogenic	189792	rs786205148	1:211654646-211654646	1:211481304-211481304
3	RD3	NM_183059.2(RD3):c.137_138del (p.Glu46fs)	deletion	Pathogenic	189793	rs786205149	1:211654620-211654621	1:211481278-211481279
4	RD3	NM_183059.2(RD3):c.136G>T (p.Glu46Ter)	SNV	Pathogenic	189794	rs786205150	1:211654622-211654622	1:211481280-211481280
5	RD3	NM_183059.2(RD3):c.296+1G>A	SNV	Pathogenic	13121	rs386834260	1:211654461-211654461	1:211481119-211481119
6	RD3	NM_183059.2(RD3):c.202C>T (p.Arg68Trp)	SNV	Uncertain significance	466320	rs144697496	1:211654556-211654556	1:211481214-211481214
7	RD3	NM_183059.2(RD3):c.584A>T (p.Asp195Val)	SNV	Benign/Likely benign	445480	rs143207434	1:211652382-211652382	1:211479040-211479040

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Expression for Leber Congenital Amaurosis 12

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

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Pathways for Leber Congenital Amaurosis 12

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	11.88	RPE65 RDH12 GUCY2D GUCA1B GUCA1A
2	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.55	RPE65 RDH12 GUCY2D GUCA1B GUCA1A
3	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁵	11.06	RPE65 RDH12
4	Visual Cycle in Retinal Rods ⁶³	10.99	RPE65 RDH12 GUCY2D GUCA1B GUCA1A
5	Vitamin A and Carotenoid Metabolism ¹	10.9	RPE65 RDH12

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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 outer segment	GO:0001750	9.33	SPATA7 RD3 GUCY2D
2	photoreceptor connecting cilium	GO:0032391	9.26	SPATA7 LCA5
3	photoreceptor disc membrane	GO:0097381	9.13	GUCY2D GUCA1B GUCA1A
4	photoreceptor inner segment	GO:0001917	8.92	RDH12 RD3 GUCA1B AIPL1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.56	SPATA7 RPE65 RDH12 RD3 GUCY2D GUCA1B
2	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.46	GUCY2D GUCA1B GUCA1A AIPL1
3	retinol metabolic process	GO:0042572	9.43	RPE65 RDH12
4	photoreceptor cell maintenance	GO:0045494	9.43	SPATA7 RDH12 LCA5
5	retina homeostasis	GO:0001895	9.4	RPE65 AIPL1
6	positive regulation of guanylate cyclase activity	GO:0031284	9.37	GUCA1B GUCA1A
7	receptor guanylyl cyclase signaling pathway	GO:0007168	9.32	GUCY2D GUCA1B
8	visual perception	GO:0007601	9.23	SPATA7 RPE65 RDH12 RD3 GUCY2D GUCA1B

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

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium sensitive guanylate cyclase activator activity	GO:0008048	8.96	GUCA1B GUCA1A
2	guanylate cyclase regulator activity	GO:0030249	8.62	GUCA1B GUCA1A

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Sources for Leber Congenital Amaurosis 12

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³ CDC

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Leber Congenital Amaurosis 12 (LCA12)

Aliases & Classifications for Leber Congenital Amaurosis 12

MalaCards integrated aliases for Leber Congenital Amaurosis 12:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 12

Related Diseases for Leber Congenital Amaurosis 12

Diseases in the Leber Congenital Amaurosis family:

Diseases related to Leber Congenital Amaurosis 12 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Leber Congenital Amaurosis 12

Human phenotypes related to Leber Congenital Amaurosis 12:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 12:

Drugs & Therapeutics for Leber Congenital Amaurosis 12

Genetic Tests for Leber Congenital Amaurosis 12

Genetic tests related to Leber Congenital Amaurosis 12:

Anatomical Context for Leber Congenital Amaurosis 12

MalaCards organs/tissues related to Leber Congenital Amaurosis 12:

Publications for Leber Congenital Amaurosis 12

Articles related to Leber Congenital Amaurosis 12:

Genes for Leber Congenital Amaurosis 12

Genes related to Leber Congenital Amaurosis 12 (1 elite genes):

Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

Expression for Leber Congenital Amaurosis 12

Pathways for Leber Congenital Amaurosis 12

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

GO Terms for Leber Congenital Amaurosis 12

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

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

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

Sources for Leber Congenital Amaurosis 12