Leber Congenital Amaurosis 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LCA2 MCID: LBR012 MIFTS: 47	Leber Congenital Amaurosis 2 (LCA2) Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Leber Congenital Amaurosis 2

MalaCards integrated aliases for Leber Congenital Amaurosis 2:

Name: Leber Congenital Amaurosis 2 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ¹⁵

Lca2 ⁵⁷ ¹² ⁵³ ⁷⁵

Amaurosis Congenita of Leber, Type 2 ⁷⁶ ⁵³

Amaurosis Congenita of Leber Ii ⁵⁷ ¹²

Leber Congenital Amaurosis, Type Ii ⁷³

Leber Congenital Amaurosis Type Ii ⁷⁵

Leber Congenital Amaurosis, Type 2 ⁴⁰

Leber Congenital Amaurosis Type 2 ⁵³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive with at least 6 different loci

HPO:

³²

leber congenital amaurosis 2:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

OMIM ⁵⁷ 204100

Disease Ontology ¹² DOID:0110016

ICD10 ³³ H35.5

MedGen ⁴² C1859844

MeSH ⁴⁴ D057130

SNOMED-CT via HPO ⁶⁹ 258211005 128306009 193570009 more

UMLS ⁷³ C1859844

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Summaries for Leber Congenital Amaurosis 2

OMIM : ⁵⁷ Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (204100)

MalaCards based summary : Leber Congenital Amaurosis 2, also known as lca2, is related to leber congenital amaurosis and long qt syndrome 1. An important gene associated with Leber Congenital Amaurosis 2 is RPE65 (RPE65, Retinoid Isomerohydrolase), and among its related pathways/superpathways are TNFR1 Pathway and Cardiac conduction. The drugs Mitogens and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are intellectual disability and cataract

Disease Ontology : ¹² A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has material basis in mutation in the RPE65 gene on chromosome 1.

UniProtKB/Swiss-Prot : ⁷⁵ Leber congenital amaurosis 2: 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.

Wikipedia : ⁷⁶ Leber''s congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the... more...

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Related Diseases for Leber Congenital Amaurosis 2

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

Diseases related to Leber Congenital Amaurosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis	10.2
2	long qt syndrome 1	10.0	CALM1 CALM2 CALM3
3	long qt syndrome 15	10.0	CALM1 CALM2 CALM3
4	long qt syndrome	10.0	CALM1 CALM2 CALM3
5	otomycosis	10.0	CALM1 CALM2 CALM3
6	external ear disease	10.0	CALM1 CALM2 CALM3
7	emery-dreifuss muscular dystrophy 5, autosomal dominant	10.0	CALM1 CALM2 CALM3
8	sporotrichosis	10.0	CALM1 CALM2 CALM3
9	otitis externa	10.0	CALM1 CALM2 CALM3
10	spontaneous ocular nystagmus	10.0	CALM1 CALM2 CALM3
11	deafness, autosomal recessive 44	10.0	CALM1 CALM2 CALM3
12	acute dacryocystitis	10.0	CALM1 CALM2 CALM3
13	dystonia 24	10.0	CALM1 CALM2 CALM3
14	gestational choriocarcinoma	10.0	CALM1 CALM2 CALM3
15	triosephosphate isomerase deficiency	10.0	CALM1 CALM2 CALM3
16	tinea unguium	10.0	CALM1 CALM2 CALM3
17	primary systemic mycosis	10.0	CALM1 CALM2 CALM3
18	clear cell acanthoma	10.0	CALM1 CALM2 CALM3
19	cardiomyopathy, dilated, 1a	10.0	CALM1 CALM2 CALM3
20	cardiomyopathy, dilated, 1p	9.9	CALM1 CALM2 CALM3
21	phaeohyphomycosis	9.9	CALM1 CALM2 CALM3
22	deafness, autosomal dominant 2a	9.9	CALM1 CALM2 CALM3
23	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	9.9	CALM1 CALM2 CALM3
24	ceroid lipofuscinosis, neuronal, 11	9.9	CALM1 CALM2 CALM3
25	primary cutaneous amyloidosis	9.9	CALM1 CALM2 CALM3
26	catecholaminergic polymorphic ventricular tachycardia	9.8	CALM1 CALM2 CALM3
27	cardiac arrest	9.8	CALM1 CALM2 CALM3

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 2:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Eye:
cataract
blindness
photophobia
keratoconus
pigmentary retinopathy
more

Brain:
hypoplastic cerebellar vermis

Neuro:
mental retardation

Clinical features from OMIM:

204100

Human phenotypes related to Leber Congenital Amaurosis 2:

³² (show all 10)

#	Description	HPO Source Accession
1	intellectual disability ³²	HP:0001249
2	cataract ³²	HP:0000518
3	blindness ³²	HP:0000618
4	photophobia ³²	HP:0000613
5	keratoconus ³²	HP:0000563
6	cerebellar vermis hypoplasia ³²	HP:0001320
7	pigmentary retinopathy ³²	HP:0000580
8	fundus atrophy ³²	HP:0001099
9	eye poking ³²	HP:0001483
10	decreased light- and dark-adapted electroretinogram amplitude ³²	HP:0000654

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Drugs & Therapeutics for Leber Congenital Amaurosis 2

Drugs for Leber Congenital Amaurosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Mitogens		Phase 1
2	Pharmaceutical Solutions		Phase 1
3	Anti-Inflammatory Agents		Phase 1
4	Interleukin 1 Receptor Antagonist Protein		Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
1	Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis	Completed	NCT00749957	Phase 1, Phase 2
2	Study of Autologous Conditioned Serum After Anterior Cruciate Ligament Reconstructive Surgery	Completed	NCT01037738	Phase 1
3	Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)	Recruiting	NCT02946879

Search NIH Clinical Center for Leber Congenital Amaurosis 2

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Genetic Tests for Leber Congenital Amaurosis 2

Genetic tests related to Leber Congenital Amaurosis 2:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 2 ²⁹	RPE65

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Anatomical Context for Leber Congenital Amaurosis 2

MalaCards organs/tissues related to Leber Congenital Amaurosis 2:

⁴¹

Eye, Retina

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Publications for Leber Congenital Amaurosis 2

Articles related to Leber Congenital Amaurosis 2:

#	Title	Authors	Year
1	Investor Outlook: Focus on Upcoming LCA2 Gene Therapy Phase III Results. ( 26390089 )	Schimmer J...Breazzano S	2015
2	Investor Outlook: Significance of the Positive LCA2 Gene Therapy Phase III Results. ( 26684444 )	Schimmer J...Breazzano S	2015
3	Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. ( 23474247 )	Testa F....Simonelli F.	2013

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Genes for Leber Congenital Amaurosis 2

Genes related to Leber Congenital Amaurosis 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RPE65	RPE65, Retinoid Isomerohydrolase	Protein Coding	1336.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9326927 20301475 15557452 (more) 11786058 12960219 13616783 14962443 20301590 30285347
2	CALM3	Calmodulin 3	Protein Coding	15.28	DISEASES inferred ¹⁵
3	CALM2	Calmodulin 2	Protein Coding	15.27	DISEASES inferred ¹⁵
4	CALM1	Calmodulin 1	Protein Coding	15.27	DISEASES inferred ¹⁵
5	LMNB2	Lamin B2	Protein Coding	14.86	DISEASES inferred ¹⁵
6	ATP2B2	ATPase Plasma Membrane Ca2+ Transporting 2	Protein Coding	14.74	DISEASES inferred ¹⁵
7	BLM	BLM RecQ Like Helicase	Protein Coding	14.72	DISEASES inferred ¹⁵
8	REV1	REV1, DNA Directed Polymerase	Protein Coding	14.61	DISEASES inferred ¹⁵
9	GLE1	GLE1, RNA Export Mediator	Protein Coding	14.47	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 2

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 2:

⁷⁵ (show all 25)

#	Symbol	AA change	Variation ID	SNP ID
1	RPE65	p.Leu22Pro	VAR_017126	rs61751277
2	RPE65	p.Gly40Ser	VAR_017127	rs61751281
3	RPE65	p.Arg44Gln	VAR_017128	rs61751282
4	RPE65	p.His68Tyr	VAR_017129	rs61752866
5	RPE65	p.Arg91Gln	VAR_017131	rs61752873
6	RPE65	p.Tyr144Asp	VAR_017133	rs61752880
7	RPE65	p.His182Tyr	VAR_017134	rs61752884
8	RPE65	p.Val287Phe	VAR_017135	rs281865289
9	RPE65	p.Pro363Thr	VAR_017138	rs121917744
10	RPE65	p.Ala393Gly	VAR_017140	rs62635773
11	RPE65	p.Glu417Gln	VAR_017141	rs62636299
12	RPE65	p.Tyr431Cys	VAR_018151	rs62636300
13	RPE65	p.Ala434Val	VAR_034477	rs34627040
14	RPE65	p.Glu102Lys	VAR_060812	rs62642584
15	RPE65	p.Glu148Asp	VAR_060813	rs61752882
16	RPE65	p.Asp167Tyr	VAR_060814	rs61752883
17	RPE65	p.His182Asn	VAR_060815	rs61752884
18	RPE65	p.Tyr239Asp	VAR_060816	rs61752896
19	RPE65	p.Cys330Tyr	VAR_060818	rs61752908
20	RPE65	p.Ala393Glu	VAR_060819
21	RPE65	p.Tyr435Cys	VAR_060820	rs62636302
22	RPE65	p.Pro470Leu	VAR_060822
23	RPE65	p.Phe70Val	VAR_067160
24	RPE65	p.Arg91Pro	VAR_067161	rs61752873
25	RPE65	p.His313Arg	VAR_067163

ClinVar genetic disease variations for Leber Congenital Amaurosis 2:

⁶ (show top 50) (show all 64)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RPE65	RPE65, 1-BP DEL, 1067A	deletion	Pathogenic
2	RPE65	NM_000329.2(RPE65): c.700C> T (p.Arg234Ter)	single nucleotide variant	Pathogenic	rs61752895	GRCh37	Chromosome 1, 68905269: 68905269
3	RPE65	NM_000329.2(RPE65): c.700C> T (p.Arg234Ter)	single nucleotide variant	Pathogenic	rs61752895	GRCh38	Chromosome 1, 68439586: 68439586
4	RPE65	NM_000329.2(RPE65): c.271C> T (p.Arg91Trp)	single nucleotide variant	Pathogenic	rs61752871	GRCh37	Chromosome 1, 68910541: 68910541
5	RPE65	NM_000329.2(RPE65): c.271C> T (p.Arg91Trp)	single nucleotide variant	Pathogenic	rs61752871	GRCh38	Chromosome 1, 68444858: 68444858
6	RPE65	NM_000329.2(RPE65): c.394G> A (p.Ala132Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61752878	GRCh37	Chromosome 1, 68910315: 68910315
7	RPE65	NM_000329.2(RPE65): c.394G> A (p.Ala132Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61752878	GRCh38	Chromosome 1, 68444632: 68444632
8	RPE65	NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)	single nucleotide variant	Pathogenic	rs121917745	GRCh37	Chromosome 1, 68895518: 68895518
9	RPE65	NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)	single nucleotide variant	Pathogenic	rs121917745	GRCh38	Chromosome 1, 68429835: 68429835
10	RPE65	NM_000329.2(RPE65): c.1102T> C (p.Tyr368His)	single nucleotide variant	Pathogenic	rs62653011	GRCh37	Chromosome 1, 68903896: 68903896
11	RPE65	NM_000329.2(RPE65): c.1102T> C (p.Tyr368His)	single nucleotide variant	Pathogenic	rs62653011	GRCh38	Chromosome 1, 68438213: 68438213
12	RPE65	RPE65, IVS1, G-A, +5	single nucleotide variant	Pathogenic
13	RPE65	NM_000329.2(RPE65): c.907A> T (p.Lys303Ter)	single nucleotide variant	Pathogenic	rs61752904	GRCh37	Chromosome 1, 68904716: 68904716
14	RPE65	NM_000329.2(RPE65): c.907A> T (p.Lys303Ter)	single nucleotide variant	Pathogenic	rs61752904	GRCh38	Chromosome 1, 68439033: 68439033
15	RPE65	NM_000329.2(RPE65): c.1292A> G (p.Tyr431Cys)	single nucleotide variant	Pathogenic	rs62636300	GRCh37	Chromosome 1, 68897011: 68897011
16	RPE65	NM_000329.2(RPE65): c.1292A> G (p.Tyr431Cys)	single nucleotide variant	Pathogenic	rs62636300	GRCh38	Chromosome 1, 68431328: 68431328
17	RPE65	NM_000329.2(RPE65): c.881A> C (p.Lys294Thr)	single nucleotide variant	Benign/Likely benign	rs61752901	GRCh37	Chromosome 1, 68904742: 68904742
18	RPE65	NM_000329.2(RPE65): c.881A> C (p.Lys294Thr)	single nucleotide variant	Benign/Likely benign	rs61752901	GRCh38	Chromosome 1, 68439059: 68439059
19	RPE65	NM_000329.2(RPE65): c.11+5G> A	single nucleotide variant	Pathogenic	rs61751276	GRCh37	Chromosome 1, 68915573: 68915573
20	RPE65	NM_000329.2(RPE65): c.11+5G> A	single nucleotide variant	Pathogenic	rs61751276	GRCh38	Chromosome 1, 68449890: 68449890
21	RPE65	NM_000329.2(RPE65): c.1155G> A (p.Thr385=)	single nucleotide variant	Likely benign	rs62653014	GRCh37	Chromosome 1, 68897242: 68897242
22	RPE65	NM_000329.2(RPE65): c.1155G> A (p.Thr385=)	single nucleotide variant	Likely benign	rs62653014	GRCh38	Chromosome 1, 68431559: 68431559
23	RPE65	NM_000329.2(RPE65): c.1301C> T (p.Ala434Val)	single nucleotide variant	Benign	rs34627040	GRCh37	Chromosome 1, 68897002: 68897002
24	RPE65	NM_000329.2(RPE65): c.1301C> T (p.Ala434Val)	single nucleotide variant	Benign	rs34627040	GRCh38	Chromosome 1, 68431319: 68431319
25	RPE65	NM_000329.2(RPE65): c.1302G> C (p.Ala434=)	single nucleotide variant	Likely benign	rs62636301	GRCh37	Chromosome 1, 68897001: 68897001
26	RPE65	NM_000329.2(RPE65): c.1302G> C (p.Ala434=)	single nucleotide variant	Likely benign	rs62636301	GRCh38	Chromosome 1, 68431318: 68431318
27	RPE65	NM_000329.2(RPE65): c.131G> A (p.Arg44Gln)	single nucleotide variant	Likely pathogenic	rs61751282	GRCh37	Chromosome 1, 68912507: 68912507
28	RPE65	NM_000329.2(RPE65): c.131G> A (p.Arg44Gln)	single nucleotide variant	Likely pathogenic	rs61751282	GRCh38	Chromosome 1, 68446824: 68446824
29	RPE65	NM_000329.2(RPE65): c.1338+20A> C	single nucleotide variant	Benign	rs12564647	GRCh37	Chromosome 1, 68896945: 68896945
30	RPE65	NM_000329.2(RPE65): c.1338+20A> C	single nucleotide variant	Benign	rs12564647	GRCh38	Chromosome 1, 68431262: 68431262
31	RPE65	NM_000329.2(RPE65): c.370C> T (p.Arg124Ter)	single nucleotide variant	Pathogenic	rs61752877	GRCh37	Chromosome 1, 68910339: 68910339
32	RPE65	NM_000329.2(RPE65): c.370C> T (p.Arg124Ter)	single nucleotide variant	Pathogenic	rs61752877	GRCh38	Chromosome 1, 68444656: 68444656
33	RPE65	NM_000329.2(RPE65): c.48T> C (p.Phe16=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs62642581	GRCh37	Chromosome 1, 68914353: 68914353
34	RPE65	NM_000329.2(RPE65): c.48T> C (p.Phe16=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs62642581	GRCh38	Chromosome 1, 68448670: 68448670
35	RPE65	NM_000329.2(RPE65): c.644-42delT	deletion	Likely benign	rs61752893	GRCh37	Chromosome 1, 68905367: 68905367
36	RPE65	NM_000329.2(RPE65): c.644-42delT	deletion	Likely benign	rs61752893	GRCh38	Chromosome 1, 68439684: 68439684
37	RPE65	NM_000329.2(RPE65): c.644-43delA	deletion	Likely benign	rs61752894	GRCh37	Chromosome 1, 68905368: 68905368
38	RPE65	NM_000329.2(RPE65): c.644-43delA	deletion	Likely benign	rs61752894	GRCh38	Chromosome 1, 68439685: 68439685
39	RPE65	NM_000329.2(RPE65): c.715T> G (p.Tyr239Asp)	single nucleotide variant	Pathogenic	rs61752896	GRCh37	Chromosome 1, 68905254: 68905254
40	RPE65	NM_000329.2(RPE65): c.715T> G (p.Tyr239Asp)	single nucleotide variant	Pathogenic	rs61752896	GRCh38	Chromosome 1, 68439571: 68439571
41	RPE65	NM_000329.2(RPE65): c.95-2A> T	single nucleotide variant	Pathogenic	rs61751279	GRCh37	Chromosome 1, 68912545: 68912545
42	RPE65	NM_000329.2(RPE65): c.95-2A> T	single nucleotide variant	Pathogenic	rs61751279	GRCh38	Chromosome 1, 68446862: 68446862
43	RPE65	NM_000329.2(RPE65): c.978G> T (p.Val326=)	single nucleotide variant	Likely benign	rs61752907	GRCh37	Chromosome 1, 68904645: 68904645
44	RPE65	NM_000329.2(RPE65): c.978G> T (p.Val326=)	single nucleotide variant	Likely benign	rs61752907	GRCh38	Chromosome 1, 68438962: 68438962
45	RPE65	NM_000329.2(RPE65): c.149_150delTT (p.Phe50Terfs)	deletion	Pathogenic	rs886042807	GRCh37	Chromosome 1, 68912488: 68912489
46	RPE65	NM_000329.2(RPE65): c.149_150delTT (p.Phe50Terfs)	deletion	Pathogenic	rs886042807	GRCh38	Chromosome 1, 68446805: 68446806
47	RPE65	NM_000329.2(RPE65): c.130C> T (p.Arg44Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs368088025	GRCh37	Chromosome 1, 68912508: 68912508
48	RPE65	NM_000329.2(RPE65): c.130C> T (p.Arg44Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs368088025	GRCh38	Chromosome 1, 68446825: 68446825
49	RPE65	NM_000329.2(RPE65): c.1302G> A (p.Ala434=)	single nucleotide variant	Benign/Likely benign	rs62636301	GRCh38	Chromosome 1, 68431318: 68431318
50	RPE65	NM_000329.2(RPE65): c.1302G> A (p.Ala434=)	single nucleotide variant	Benign/Likely benign	rs62636301	GRCh37	Chromosome 1, 68897001: 68897001

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Expression for Leber Congenital Amaurosis 2

Search GEO for disease gene expression data for Leber Congenital Amaurosis 2.

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Pathways for Leber Congenital Amaurosis 2

Pathways related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 84)

#	Super pathways	Score	Top Affiliating Genes
1	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ DR3 Signaling ⁶⁴ Fas Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.84	CALM1 CALM2 CALM3 LMNB2
2	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.74	ATP2B2 CALM1 CALM2 CALM3
3	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Insulin secretion ³⁷ Thyroid hormone synthesis ³⁷	12.68	ATP2B2 CALM1 CALM2 CALM3
4	Vascular smooth muscle contraction ³⁷ Show member pathways cGMP-PKG signaling pathway ³⁷ Oxytocin signaling pathway ³⁷	12.63	ATP2B2 CALM1 CALM2 CALM3
5	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Apoptosis and survival BAD phosphorylation ²² BAD Phosphorylation ⁶⁴ Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²²	12.46	CALM1 CALM2 CALM3
6	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.46	ATP2B2 CALM1 CALM2 CALM3
7	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.45	ATP2B2 CALM1 CALM2 CALM3
8	ADP signalling through P2Y purinoceptor 12 ⁶⁶ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶¹ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁶ G alpha (z) signalling events ⁶⁶ G-protein activation ⁶⁶ Signal transduction cAMP signaling ²²	12.44	CALM1 CALM2 CALM3
9	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.41	CALM1 CALM2 CALM3
10	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways BMP Pathway ⁶⁴ Caspase Cascade ⁶⁴ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁶ nNOS Signaling in Skeletal Muscle ⁶⁴ TOB in Osteoblast Signaling ⁶⁴	12.39	CALM1 CALM2 CALM3 LMNB2
11	Aquaporin-mediated transport ⁶⁶ Show member pathways Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² Glucagon signaling in metabolic regulation ⁶⁶ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁶ Passive transport by Aquaporins ⁶⁶ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁶ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁶	12.35	CALM1 CALM2 CALM3
12	CLEC7A (Dectin-1) signaling ⁶⁶ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁶ C-type lectin receptors (CLRs) ⁶⁶	12.34	CALM1 CALM2 CALM3
13	Cushing syndrome ³⁷ Show member pathways Melanogenesis ³⁷	12.33	CALM1 CALM2 CALM3
14	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of Kainate Receptors upon glutamate binding ⁶⁶ Activation of Na-permeable Kainate Receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta-gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of Kainate Receptors ⁶⁶	12.32	CALM1 CALM2 CALM3
15	Semaphorin interactions ⁶⁶ Show member pathways CRMPs in Sema3A signaling ⁶⁶ Inhibition of Ribosome Biogenesis by p19(ARF) ⁶⁴ Other semaphorin interactions ⁶⁶ RHO GTPases activate CIT ⁶⁶ RHO GTPases activate PAKs ⁶⁶ RHO GTPases Activate ROCKs ⁶⁶ Sema3A PAK dependent Axon repulsion ⁶⁶ SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion ⁶⁶ Sema4D in semaphorin signaling ⁶⁶ Sema4D induced cell migration and growth-cone collapse ⁶⁶ Sema4D mediated inhibition of cell attachment and migration ⁶⁶	12.32	CALM1 CALM2 CALM3
16	RhoGDI Pathway ⁶⁴ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁴	12.31	CALM1 CALM2 CALM3
17	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	12.3	CALM1 CALM2 CALM3
18	B cell receptor signaling pathway (KEGG) ³⁷ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.29	CALM1 CALM2 CALM3
19	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.27	CALM1 CALM2 CALM3
20	Oocyte meiosis ³⁷ Show member pathways Progesterone-mediated oocyte maturation ³⁷	12.26	CALM1 CALM2 CALM3
21	Immune response CCR3 signaling in eosinophils ²² Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²²	12.25	CALM1 CALM2 CALM3
22	B Cell Receptor Signaling Pathway (sino) ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.24	CALM1 CALM2 CALM3
23	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	12.23	CALM1 CALM2 CALM3
24	Toll Comparative Pathway ⁶⁴ Show member pathways IL-1 Pathway ⁶⁴ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶⁴ TLR-TRIF Pathway ⁶⁴	12.22	CALM1 CALM2 CALM3
25	Metabolism of fat-soluble vitamins ⁶⁶ Show member pathways Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ Visual phototransduction ⁶⁶ Vitamin D (calciferol) metabolism ⁶⁶	12.22	CALM1 CALM2 CALM3 RPE65
26	cAMP signaling pathway ³⁷ Show member pathways Hydroxycarboxylic acid-binding receptors ⁶⁶	12.19	ATP2B2 CALM1 CALM2 CALM3
27	Post NMDA receptor activation events ⁶⁶ Show member pathways Activation of CaMK IV ⁶⁶ Activation of NMDA receptor upon glutamate binding and postsynaptic events ⁶⁶ CaMK IV-mediated phosphorylation of CREB ⁶⁶ CREB phosphorylation through the activation of CaMKII ⁶⁶ CREB phosphorylation through the activation of CaMKK ⁶⁶ CREB phosphorylation through the activation of Ras ⁶⁶ Ras activation uopn Ca2+ infux through NMDA receptor ⁶⁶ RSK activation ⁶⁶ Unblocking of NMDA receptor, glutamate binding and activation ⁶⁶	12.16	CALM1 CALM2 CALM3
28	Tuberculosis ³⁷	12.15	CALM1 CALM2 CALM3
29	Platelet homeostasis ⁶⁶ Show member pathways Elevation of cytosolic Ca2+ levels ⁶⁶ Platelet calcium homeostasis ⁶⁶ Platelet sensitization by LDL ⁶⁶ Prostacyclin signalling through prostacyclin receptor ⁶⁶ Reduction of cytosolic Ca++ levels ⁶⁶	12.15	ATP2B2 CALM1 CALM2 CALM3
30	Calcium signaling pathway ³⁷ Show member pathways Oxytocin signaling ¹	12.14	ATP2B2 CALM1 CALM2 CALM3
31	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ VEGFR2 mediated vascular permeability ⁶⁶	12.13	CALM1 CALM2 CALM3
32	C-type lectin receptor signaling pathway ³⁷ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	12.13	CALM1 CALM2 CALM3
33	Long-term potentiation ³⁷ Show member pathways Common Pathways Underlying Drug Addiction ¹ Dopamine D1-Like Receptor Family Signaling Pathways ⁶⁵	12.11	CALM1 CALM2 CALM3
34	ADP signalling through P2Y purinoceptor 1 ⁶⁶ Show member pathways Development Angiotensin signaling via beta-Arrestin ²² Signal amplification ⁶⁶ Thrombin signalling through proteinase activated receptors (PARs) ⁶⁶ Thromboxane signalling through TP receptor ⁶⁶	12.09	CALM1 CALM2 CALM3
35	Cellular senescence (KEGG) ³⁷	12.09	CALM1 CALM2 CALM3
36	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	12.05	CALM1 CALM2 CALM3
37	Salivary secretion ³⁷ Show member pathways Gastric acid secretion ³⁷	12.04	ATP2B2 CALM1 CALM2 CALM3
38	Fluid shear stress and atherosclerosis ³⁷	12.02	CALM1 CALM2 CALM3
39	Apelin signaling pathway ³⁷	12.01	CALM1 CALM2 CALM3
40	Phototransduction ³⁷ Show member pathways Activation of the phototransduction cascade ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ The phototransduction cascade ⁶⁶ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.99	CALM1 CALM2 CALM3 RPE65
41	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	11.95	CALM1 CALM2 CALM3
42	Amphetamine addiction ³⁷ Show member pathways Cocaine addiction ³⁷	11.93	CALM1 CALM2 CALM3
43	Inositol phosphate metabolism ⁶⁶ Show member pathways D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis ¹ inositol pyrophosphates biosynthesis ¹ myo-inositol de novo biosynthesis ¹ Synthesis of IP2, IP, and Ins in the cytosol ⁶⁶ Synthesis of IP3 and IP4 in the cytosol ⁶⁶ Synthesis of IPs in the nucleus ⁶⁶ Synthesis of pyrophosphates in the cytosol ⁶⁶	11.91	CALM1 CALM2 CALM3
44	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁶ Show member pathways B-Cell Receptor Complex ⁶⁴ CD22 mediated BCR regulation ⁶⁶ CLEC7A (Dectin-1) induces NFAT activation ⁶⁶ FCERI mediated Ca+2 mobilization ⁶⁶	11.88	CALM1 CALM2 CALM3
45	Glucagon signaling pathway ³⁷	11.87	CALM1 CALM2 CALM3
46	ErbB1 downstream signaling ¹	11.86	CALM1 CALM2 CALM3
47	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO Receptor Signaling ¹ EPO signaling pathway ¹	11.84	CALM1 CALM2 CALM3
48	Signaling events mediated by VEGFR1 and VEGFR2 ¹ Show member pathways VEGFR1 specific signals ¹	11.81	CALM1 CALM2 CALM3
49	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²² Show member pathways DARPP-32 events ⁶⁶	11.8	CALM1 CALM2 CALM3
50	Uptake and actions of bacterial toxins ⁶⁶ Show member pathways Intestinal infectious diseases ⁶⁶ Neurotoxicity of clostridium toxins ⁶⁶ Toxicity of botulinum toxin type A (BoNT/A) ⁶⁶ Toxicity of botulinum toxin type B (BoNT/B) ⁶⁶ Toxicity of botulinum toxin type C (BoNT/C) ⁶⁶ Toxicity of botulinum toxin type E (BoNT/E) ⁶⁶ Toxicity of botulinum toxin type G (BoNT/G) ⁶⁶ Toxicity of tetanus toxin (TeNT) ⁶⁶ Uptake and function of anthrax toxins ⁶⁶ Uptake and function of diphtheria toxin ⁶⁶	11.73	CALM1 CALM2 CALM3

Sources

GO Terms for Leber Congenital Amaurosis 2

Cellular components related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	spindle	GO:0005819	9.61	CALM1 CALM2 CALM3
2	vesicle	GO:0031982	9.58	CALM1 CALM2 CALM3
3	myelin sheath	GO:0043209	9.54	CALM1 CALM2 CALM3
4	spindle pole	GO:0000922	9.5	CALM1 CALM2 CALM3
5	sarcomere	GO:0030017	9.43	CALM1 CALM2 CALM3
6	spindle microtubule	GO:0005876	9.33	CALM1 CALM2 CALM3
7	calcium channel complex	GO:0034704	9.13	CALM1 CALM2 CALM3
8	catalytic complex	GO:1902494	8.8	CALM1 CALM2 CALM3

Biological processes related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

(show all 31)

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium-mediated signaling	GO:0019722	9.78	CALM1 CALM2 CALM3
2	response to calcium ion	GO:0051592	9.77	CALM1 CALM2 CALM3
3	positive regulation of protein serine/threonine kinase activity	GO:0071902	9.76	CALM1 CALM2 CALM3
4	substantia nigra development	GO:0021762	9.75	CALM1 CALM2 CALM3
5	regulation of cytokinesis	GO:0032465	9.74	CALM1 CALM2 CALM3
6	regulation of heart rate	GO:0002027	9.72	CALM1 CALM2 CALM3
7	positive regulation of peptidyl-threonine phosphorylation	GO:0010800	9.71	CALM1 CALM2 CALM3
8	positive regulation of protein dephosphorylation	GO:0035307	9.7	CALM1 CALM2 CALM3
9	positive regulation of protein autophosphorylation	GO:0031954	9.69	CALM1 CALM2 CALM3
10	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.67	CALM1 CALM2 CALM3
11	regulation of synaptic vesicle exocytosis	GO:2000300	9.65	CALM1 CALM3
12	response to amphetamine	GO:0001975	9.65	CALM1 CALM3
13	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0010880	9.65	CALM1 CALM2 CALM3
14	activation of adenylate cyclase activity	GO:0007190	9.64	CALM1 CALM3
15	positive regulation of DNA binding	GO:0043388	9.64	CALM2 CALM3
16	positive regulation of nitric-oxide synthase activity	GO:0051000	9.63	CALM1 CALM3
17	response to corticosterone	GO:0051412	9.63	CALM1 CALM3
18	regulation of cardiac muscle contraction	GO:0055117	9.63	CALM1 CALM2 CALM3
19	regulation of ryanodine-sensitive calcium-release channel activity	GO:0060314	9.62	CALM1 CALM3
20	regulation of synaptic vesicle endocytosis	GO:1900242	9.62	CALM1 CALM3
21	establishment of protein localization to membrane	GO:0090150	9.61	CALM1 CALM3
22	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	9.61	CALM1 CALM2 CALM3
23	regulation of high voltage-gated calcium channel activity	GO:1901841	9.6	CALM1 CALM3
24	positive regulation of phosphoprotein phosphatase activity	GO:0032516	9.58	CALM1 CALM2 CALM3
25	establishment of protein localization to mitochondrial membrane	GO:0090151	9.56	CALM1 CALM3
26	detection of calcium ion	GO:0005513	9.54	CALM1 CALM2 CALM3
27	negative regulation of ryanodine-sensitive calcium-release channel activity	GO:0060315	9.5	CALM1 CALM2 CALM3
28	positive regulation of ryanodine-sensitive calcium-release channel activity	GO:0060316	9.43	CALM1 CALM2 CALM3
29	regulation of cell communication by electrical coupling involved in cardiac conduction	GO:1901844	9.33	CALM1 CALM2 CALM3
30	positive regulation of cyclic-nucleotide phosphodiesterase activity	GO:0051343	9.13	CALM1 CALM2 CALM3
31	positive regulation by host of symbiont cAMP-mediated signal transduction	GO:0075206	8.8	CALM1 CALM2 CALM3

Molecular functions related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein domain specific binding	GO:0019904	9.73	CALM1 CALM2 CALM3
2	ion channel binding	GO:0044325	9.67	CALM1 CALM2 CALM3
3	disordered domain specific binding	GO:0097718	9.61	CALM1 CALM2 CALM3
4	enzyme regulator activity	GO:0030234	9.55	CALM1 CALM3
5	protein serine/threonine kinase activator activity	GO:0043539	9.54	CALM1 CALM2 CALM3
6	phosphatidylinositol 3-kinase binding	GO:0043548	9.52	CALM1 CALM3
7	nitric-oxide synthase binding	GO:0050998	9.51	CALM1 CALM3
8	titin binding	GO:0031432	9.5	CALM1 CALM2 CALM3
9	calcium channel inhibitor activity	GO:0019855	9.48	CALM1 CALM2
10	nitric-oxide synthase regulator activity	GO:0030235	9.46	CALM1 CALM3
11	adenylate cyclase binding	GO:0008179	9.43	CALM1 CALM2 CALM3
12	type 3 metabotropic glutamate receptor binding	GO:0031800	9.4	CALM1 CALM3
13	protein phosphatase activator activity	GO:0072542	9.33	CALM1 CALM2 CALM3
14	adenylate cyclase activator activity	GO:0010856	9.13	CALM1 CALM2 CALM3
15	N-terminal myristoylation domain binding	GO:0031997	8.8	CALM1 CALM2 CALM3
16	metal ion binding	GO:0046872	10.08	ATP2B2 BLM CALM1 CALM2 CALM3 REV1

Sources

Sources for Leber Congenital Amaurosis 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁴¹ MalaCards

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⁵¹ NDF-RT

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⁵⁵ Novoseek

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Leber Congenital Amaurosis 2 (LCA2)

Aliases & Classifications for Leber Congenital Amaurosis 2

MalaCards integrated aliases for Leber Congenital Amaurosis 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 2

Related Diseases for Leber Congenital Amaurosis 2

Diseases in the Leber Congenital Amaurosis family:

Diseases related to Leber Congenital Amaurosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 2:

Symptoms & Phenotypes for Leber Congenital Amaurosis 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Leber Congenital Amaurosis 2:

Drugs & Therapeutics for Leber Congenital Amaurosis 2

Drugs for Leber Congenital Amaurosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Leber Congenital Amaurosis 2

Genetic tests related to Leber Congenital Amaurosis 2:

Anatomical Context for Leber Congenital Amaurosis 2

MalaCards organs/tissues related to Leber Congenital Amaurosis 2:

Publications for Leber Congenital Amaurosis 2

Articles related to Leber Congenital Amaurosis 2:

Genes for Leber Congenital Amaurosis 2

Genes related to Leber Congenital Amaurosis 2 (1 elite genes):

Variations for Leber Congenital Amaurosis 2

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 2:

ClinVar genetic disease variations for Leber Congenital Amaurosis 2:

Expression for Leber Congenital Amaurosis 2

Pathways for Leber Congenital Amaurosis 2

Pathways related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

GO Terms for Leber Congenital Amaurosis 2

Cellular components related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

Biological processes related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

Molecular functions related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 2