Leber Congenital Amaurosis 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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. (613837) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 11, also known as lca11, is related to severe early-childhood-onset retinal dystrophy and cone-rod dystrophy 17. An important gene associated with Leber Congenital Amaurosis 11 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1), and among its related pathways/superpathways are Ciliary landscape and Ciliopathies. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

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 n the IMPDH1 gene on chromosome 7q31.3-q32.

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Related Diseases for Leber Congenital Amaurosis 11

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

(show top 50) (show all 62)

#	Related Disease	Score	Top Affiliating Genes
1	severe early-childhood-onset retinal dystrophy	10.1	SPATA7 LCA5
2	cone-rod dystrophy 17	10.0	GUCY2D AIPL1
3	cone-rod dystrophy 13	10.0	SPATA7 IQCB1
4	retinitis pigmentosa 38	10.0	GUCY2D AIPL1
5	chorioretinal scar	10.0	RDH12 CRB1
6	gapo syndrome	9.9	CRB1 AIPL1
7	retinitis pigmentosa 12	9.9	CRB1 AIPL1
8	microphthalmia, isolated 6	9.9	IQCB1 CRB1
9	vitreous syneresis	9.9	KCNJ13 CRB1
10	enophthalmos	9.9	GUCY2D CRB1
11	choroid disease	9.8	GUCY2D CRB1
12	usher syndrome, type iia	9.8	CRB1 AIPL1
13	refractive error	9.8	GUCY2D CRB1
14	hereditary retinal dystrophy	9.8	SPATA7 GUCY2D CRB1
15	nephronophthisis	9.8	SPATA7 LCA5 IQCB1
16	pigmented paravenous chorioretinal atrophy	9.7	GUCY2D CRB1 AIPL1
17	enhanced s-cone syndrome	9.7	GUCY2D CRB1 AIPL1
18	choroidal dystrophy, central areolar, 1	9.7	GUCY2D CRB1 AIPL1
19	color blindness	9.7	GUCY2D CRB1 AIPL1
20	retinoschisis 1, x-linked, juvenile	9.7	GUCY2D CRB1 AIPL1
21	vitelliform macular dystrophy	9.7	GUCY2D CRB1
22	physical disorder	9.7	GUCY2D CRB1 AIPL1
23	retinitis	9.6	TULP1 IMPDH1 CRB1
24	pseudoretinitis pigmentosa	9.6	TULP1 IMPDH1 CRB1
25	stargardt disease 1	9.6	TULP1 RDH12 CRB1
26	pseudopapilledema	9.6	RDH12 GUCY2D CRB1 AIPL1
27	nanophthalmos	9.4	TULP1 CRB1
28	leber congenital amaurosis 1	9.4	TULP1 LCA5 GUCY2D CRB1
29	night blindness	9.4	TULP1 RDH12 GUCY2D CRB1
30	blood group, globoside system	9.4	TULP1 RDH12 CRB1 AIPL1
31	fundus albipunctatus	9.4	TULP1 RDH12 GUCY2D CRB1
32	late-onset retinal degeneration	9.3	TULP1 GUCY2D CRB1 AIPL1
33	leber congenital amaurosis 7	9.3	SPATA7 RDH12 LCA5 GUCY2D CRB1 AIPL1
34	leber congenital amaurosis 12	9.2	SPATA7 LCA5 KCNJ13 IQCB1 GUCY2D AIPL1
35	coloboma of macula	9.2	RDH12 LCA5 IQCB1 GUCY2D CRB1 AIPL1
36	eye disease	8.9	TULP1 RDH12 IQCB1 GUCY2D CRB1 AIPL1
37	leber congenital amaurosis 14	8.9	TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
38	leber congenital amaurosis 2	8.8	TULP1 SPATA7 RDH12 LCA5 GUCY2D CRB1
39	retinal degeneration	8.8	TULP1 SPATA7 RDH12 IMPDH1 GUCY2D CRB1
40	eye degenerative disease	8.8	TULP1 RDH12 IQCB1 IMPDH1 GUCY2D CRB1
41	stargardt disease	8.7	TULP1 SPATA7 RDH12 IQCB1 GUCY2D CRB1
42	leber congenital amaurosis 13	8.7	TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
43	leber congenital amaurosis 8	8.7	TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
44	leber congenital amaurosis 6	8.7	TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
45	leber congenital amaurosis 9	8.7	TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
46	congenital stationary night blindness	8.6	TULP1 RDH12 LCA5 IQCB1 IMPDH1 GUCY2D
47	achromatopsia	8.6	TULP1 SPATA7 RDH12 LCA5 IQCB1 GUCY2D
48	cone dystrophy	8.6	TULP1 SPATA7 RDH12 LCA5 IQCB1 GUCY2D
49	bardet-biedl syndrome	8.6	TULP1 SPATA7 RDH12 LCA5 IQCB1 GUCY2D
50	leber congenital amaurosis 15	8.5	TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 11:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 11

Human phenotypes related to Leber Congenital Amaurosis 11:

³⁰

#	Description	HPO Source Accession
1	nystagmus ³⁰	HP:0000639
2	visual impairment ³⁰	HP:0000505
3	reduced visual acuity ³⁰	HP:0007663

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
nystagmus
reduced visual acuity
reduced night vision
reduced peripheral vision
diffuse mottling of retinal pigment epithelium

Clinical features from OMIM®:

613837 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 11:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.5	AIPL1 CRB1 GUCY2D LCA5 RDH12 SPATA7
2	vision/eye	MP:0005391	9.28	AIPL1 CRB1 GUCY2D IMPDH1 IQCB1 LCA5

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Drugs & Therapeutics for Leber Congenital Amaurosis 11

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 11

Cochrane evidence based reviews: leber congenital amaurosis 11

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Genetic Tests for Leber Congenital Amaurosis 11

Genetic tests related to Leber Congenital Amaurosis 11:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 11 ²⁸	IMPDH1

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Anatomical Context for Leber Congenital Amaurosis 11

Organs/tissues related to Leber Congenital Amaurosis 11:

MalaCards : Retina, Eye

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Publications for Leber Congenital Amaurosis 11

Articles related to Leber Congenital Amaurosis 11:

#	Title	Authors	PMID	Year
1	Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. ⁵⁷ ⁵	Bowne SJ...Daiger SP	16384941	2006
2	Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. ⁵⁷	Chung DC...Traboulsi EI	20006823	2009
3	Discovering candidate imprinted genes and imprinting control regions in the human genome. ⁶²	Bina M	32475352	2020
4	[Genotype screening of retinal dystrophies in the Japanese population using a microarray]. ⁶²	Ogino K...Yoshimura N	23424971	2013
5	Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶²	Weleber RG...Beattie C	20301475	2004

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Genes for Leber Congenital Amaurosis 11

Genes related to Leber Congenital Amaurosis 11 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	1339.99	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	16384941
2	LCA5	Lebercilin LCA5	Protein Coding	7.1	DISEASES inferred ¹⁴
3	RDH12	Retinol Dehydrogenase 12	Protein Coding	7.03	DISEASES inferred ¹⁴
4	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.92	DISEASES inferred ¹⁴
5	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6.83	DISEASES inferred ¹⁴
6	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	6.65	DISEASES inferred ¹⁴
7	IQCB1	IQ Motif Containing B1	Protein Coding	6.42	DISEASES inferred ¹⁴
8	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	6.39	DISEASES inferred ¹⁴
9	TULP1	TUB Like Protein 1	Protein Coding	6.37	DISEASES inferred ¹⁴
10	KCNJ13	Potassium Inwardly Rectifying Channel Subfamily J Member 13	Protein Coding	6.11	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 11

ClinVar genetic disease variations for Leber Congenital Amaurosis 11:

⁵ (show top 50) (show all 80)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	IMPDH1	NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)	SNV	Pathogenic	14838	rs121912554	GRCh37: 7:128040174-128040174 GRCh38: 7:128400120-128400120
2	IMPDH1	NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)	SNV	Likely Pathogenic	374177	rs1057518949	GRCh37: 7:128038614-128038614 GRCh38: 7:128398560-128398560
3	IMPDH1	NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)	SNV	Uncertain Significance	194611	rs150628823	GRCh37: 7:128034396-128034396 GRCh38: 7:128394342-128394342
4	IMPDH1	NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)	SNV	Uncertain Significance	813046	rs946898300	GRCh37: 7:128049885-128049885 GRCh38: 7:128409831-128409831
5	IMPDH1	NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys)	SNV	Uncertain Significance	450043	rs370988040	GRCh37: 7:128038512-128038512 GRCh38: 7:128398458-128398458
6	IMPDH1	NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile)	SNV	Uncertain Significance	560464	rs564132747	GRCh37: 7:128035060-128035060 GRCh38: 7:128395006-128395006
7	IMPDH1	NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)	SNV	Uncertain Significance	14837	rs121912553	GRCh37: 7:128040882-128040882 GRCh38: 7:128400828-128400828
8	IMPDH1	NM_000883.4(IMPDH1):c.146+9C>T	SNV	Uncertain Significance	358880	rs749118285	GRCh37: 7:128049801-128049801 GRCh38: 7:128409747-128409747
9	IMPDH1	NM_000883.4(IMPDH1):c.*259G>A	SNV	Uncertain Significance	358863	rs535964010	GRCh37: 7:128032802-128032802 GRCh38: 7:128392748-128392748
10	IMPDH1	NM_000883.4(IMPDH1):c.*231C>G	SNV	Uncertain Significance	358866	rs1042267	GRCh37: 7:128032830-128032830 GRCh38: 7:128392776-128392776
11	IMPDH1	NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=)	SNV	Uncertain Significance	358874	rs780213373	GRCh37: 7:128035240-128035240 GRCh38: 7:128395186-128395186
12	IMPDH1	NM_000883.4(IMPDH1):c.-59G>A	SNV	Uncertain Significance	358881	rs886061985	GRCh37: 7:128050014-128050014 GRCh38: 7:128409960-128409960
13	IMPDH1	NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)	SNV	Uncertain Significance	358878	rs144659635	GRCh37: 7:128040404-128040404 GRCh38: 7:128400350-128400350
14	IMPDH1	NM_000883.4(IMPDH1):c.1653C>T (p.His551=)	SNV	Uncertain Significance	358872	rs147882304	GRCh37: 7:128034551-128034551 GRCh38: 7:128394497-128394497
15	IMPDH1	NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=)	SNV	Uncertain Significance	358875	rs199623010	GRCh37: 7:128035252-128035252 GRCh38: 7:128395198-128395198
16	IMPDH1	NM_000883.4(IMPDH1):c.888C>T (p.Ile296=)	SNV	Uncertain Significance	358877	rs72624957	GRCh37: 7:128038654-128038654 GRCh38: 7:128398600-128398600
17	IMPDH1	NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)	SNV	Uncertain Significance	197169	rs547740249	GRCh37: 7:128045838-128045838 GRCh38: 7:128405784-128405784
18	IMPDH1	NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)	SNV	Uncertain Significance Likely Benign	193819	rs72624961	GRCh37: 7:128037043-128037043 GRCh38: 7:128396989-128396989
19	IMPDH1	NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp)	SNV	Uncertain Significance	909033	rs756992593	GRCh37: 7:128034615-128034615 GRCh38: 7:128394561-128394561
20	IMPDH1	NM_000883.4(IMPDH1):c.930C>T (p.Thr310=)	SNV	Uncertain Significance	772300	rs150531977	GRCh37: 7:128038612-128038612 GRCh38: 7:128398558-128398558
21	IMPDH1	NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln)	SNV	Uncertain Significance	855604	rs145014241	GRCh37: 7:128040182-128040182 GRCh38: 7:128400128-128400128
22	IMPDH1	NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)	SNV	Uncertain Significance	910797	rs763999626	GRCh37: 7:128035310-128035310 GRCh38: 7:128395256-128395256
23	IMPDH1	NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp)	SNV	Uncertain Significance	910798	rs375914533	GRCh37: 7:128036689-128036689 GRCh38: 7:128396635-128396635
24	IMPDH1	NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg)	SNV	Uncertain Significance	707014	rs61751223	GRCh37: 7:128037009-128037009 GRCh38: 7:128396955-128396955
25	IMPDH1	NM_000883.4(IMPDH1):c.561C>T (p.Asn187=)	SNV	Uncertain Significance	910850	rs1042250	GRCh37: 7:128040889-128040889 GRCh38: 7:128400835-128400835
26	IMPDH1	NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met)	SNV	Uncertain Significance	857776	rs150278198	GRCh37: 7:128041130-128041130 GRCh38: 7:128401076-128401076
27	IMPDH1	NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=)	SNV	Uncertain Significance	711446	rs201803921	GRCh37: 7:128034536-128034536 GRCh38: 7:128394482-128394482
28	IMPDH1	NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=)	SNV	Uncertain Significance	729916	rs139785999	GRCh37: 7:128034542-128034542 GRCh38: 7:128394488-128394488
29	IMPDH1	NM_000883.4(IMPDH1):c.255-10C>T	SNV	Uncertain Significance	912068	rs1478038443	GRCh37: 7:128045929-128045929 GRCh38: 7:128405875-128405875
30	IMPDH1	NM_000883.4(IMPDH1):c.189A>G (p.Ser63=)	SNV	Uncertain Significance	767199	rs143796089	GRCh37: 7:128049496-128049496 GRCh38: 7:128409442-128409442
31	IMPDH1	NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)	SNV	Uncertain Significance	636175	rs144498273	GRCh37: 7:128034606-128034606 GRCh38: 7:128394552-128394552
32	IMPDH1	NM_000883.4(IMPDH1):c.*202C>T	SNV	Uncertain Significance	358869	rs886061982	GRCh37: 7:128032859-128032859 GRCh38: 7:128392805-128392805
33	IMPDH1	NM_000883.4(IMPDH1):c.*631C>T	SNV	Uncertain Significance	358859	rs760544024	GRCh37: 7:128032430-128032430 GRCh38: 7:128392376-128392376
34	IMPDH1	NM_000883.4(IMPDH1):c.*223C>G	SNV	Uncertain Significance	358868	rs543042380	GRCh37: 7:128032838-128032838 GRCh38: 7:128392784-128392784
35	IMPDH1	NM_000883.4(IMPDH1):c.*321G>A	SNV	Uncertain Significance	358862	rs571536404	GRCh37: 7:128032740-128032740 GRCh38: 7:128392686-128392686
36	IMPDH1	NM_000883.4(IMPDH1):c.*258C>T	SNV	Uncertain Significance	358864	rs886061981	GRCh37: 7:128032803-128032803 GRCh38: 7:128392749-128392749
37	IMPDH1	NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile)	SNV	Uncertain Significance	358871	rs886061984	GRCh37: 7:128034406-128034406 GRCh38: 7:128394352-128394352
38	IMPDH1	NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln)	SNV	Uncertain Significance	358879	rs201071873	GRCh37: 7:128040436-128040436 GRCh38: 7:128400382-128400382
39	IMPDH1	NM_000883.4(IMPDH1):c.*256T>C	SNV	Uncertain Significance	358865	rs752294619	GRCh37: 7:128032805-128032805 GRCh38: 7:128392751-128392751
40	IMPDH1, LOC107986845	NM_000883.4(IMPDH1):c.*722C>T	SNV	Uncertain Significance	358857	rs886061980	GRCh37: 7:128032339-128032339 GRCh38: 7:128392285-128392285
41	IMPDH1	NM_000883.4(IMPDH1):c.*105T>A	SNV	Uncertain Significance	358870	rs886061983	GRCh37: 7:128032956-128032956 GRCh38: 7:128392902-128392902
42	IMPDH1	NM_000883.4(IMPDH1):c.*321G>T	SNV	Uncertain Significance	358861	rs571536404	GRCh37: 7:128032740-128032740 GRCh38: 7:128392686-128392686
43	IMPDH1	NM_000883.4(IMPDH1):c.-13C>T	SNV	Uncertain Significance	908060	rs1373186956	GRCh37: 7:128049968-128049968 GRCh38: 7:128409914-128409914
44	IMPDH1	NM_000883.4(IMPDH1):c.-17T>C	SNV	Uncertain Significance	908061	rs1799034671	GRCh37: 7:128049972-128049972 GRCh38: 7:128409918-128409918
45	IMPDH1, LOC107986845	NM_000883.4(IMPDH1):c.*694C>A	SNV	Uncertain Significance	908908	rs1179467429	GRCh37: 7:128032367-128032367 GRCh38: 7:128392313-128392313
46	IMPDH1	NM_000883.4(IMPDH1):c.*642G>A	SNV	Uncertain Significance	908909	rs574318258	GRCh37: 7:128032419-128032419 GRCh38: 7:128392365-128392365
47	IMPDH1	NM_000883.4(IMPDH1):c.*223C>T	SNV	Uncertain Significance	908976	rs543042380	GRCh37: 7:128032838-128032838 GRCh38: 7:128392784-128392784
48	IMPDH1	NM_000883.4(IMPDH1):c.*223C>A	SNV	Uncertain Significance	908977	rs543042380	GRCh37: 7:128032838-128032838 GRCh38: 7:128392784-128392784
49	IMPDH1	NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser)	SNV	Uncertain Significance	909034	rs367951647	GRCh37: 7:128034631-128034631 GRCh38: 7:128394577-128394577
50	IMPDH1	NM_000883.4(IMPDH1):c.795G>A (p.Thr265=)	SNV	Uncertain Significance	909095	rs757423102	GRCh37: 7:128040228-128040228 GRCh38: 7:128400174-128400174

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 11:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	IMPDH1	p.Arg105Trp	VAR_065616
2	IMPDH1	p.Asn198Lys	VAR_065618

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Expression for Leber Congenital Amaurosis 11

Search GEO for disease gene expression data for Leber Congenital Amaurosis 11.

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Pathways for Leber Congenital Amaurosis 11

Pathways related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Ciliary landscape ⁷⁴	11.66	SPATA7 LCA5 IQCB1
2	Ciliopathies ⁷⁴	10.97	TULP1 SPATA7 LCA5 IQCB1
3	Visual signal transduction: Cones ⁶¹	10.32	RDH12 GUCY2D

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GO Terms for Leber Congenital Amaurosis 11

Cellular components related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.73	TULP1 SPATA7 LCA5 GUCY2D CRB1
2	photoreceptor connecting cilium	GO:0032391	9.63	SPATA7 LCA5 IQCB1
3	photoreceptor inner segment	GO:0001917	9.56	TULP1 RDH12 CRB1 AIPL1
4	photoreceptor outer segment	GO:0001750	9.28	TULP1 SPATA7 IQCB1 GUCY2D CRB1

Biological processes related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	retina homeostasis	GO:0001895	9.73	TULP1 AIPL1
2	detection of light stimulus involved in visual perception	GO:0050908	9.71	TULP1 CRB1
3	visual perception	GO:0007601	9.7	TULP1 SPATA7 RDH12 GUCY2D CRB1 AIPL1
4	eye photoreceptor cell development	GO:0042462	9.67	TULP1 CRB1
5	response to stimulus	GO:0050896	9.63	AIPL1 GUCY2D RDH12 SPATA7 TULP1
6	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.62	GUCY2D AIPL1
7	protein localization to photoreceptor outer segment	GO:1903546	9.56	TULP1 SPATA7
8	photoreceptor cell maintenance	GO:0045494	9.4	TULP1 SPATA7 RDH12 LCA5 IQCB1 CRB1

Sources

Sources for Leber Congenital Amaurosis 11

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCA11 MCID: LBR006 MIFTS: 39	Leber Congenital Amaurosis 11 (LCA11) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Leber Congenital Amaurosis 11 (LCA11)

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