Leber Congenital Amaurosis 17 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leber Congenital Amaurosis 17

MalaCards integrated aliases for Leber Congenital Amaurosis 17:

Name: Leber Congenital Amaurosis 17 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

Lca17 ⁵⁷ ¹¹ ⁷³

Leber Congenital Amaurosis, Type 17 ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
clinically unaffected heterozygotes may show changes on electroretinography
clinical features based on 1 reported family (last curated august 2013)

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹¹ DOID:0110217

OMIM® ⁵⁷ 615360

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴³ D057130

ICD10 ³¹ H35.5

MedGen ⁴⁰ C3715164 CN178541

UMLS ⁷¹ C3715164

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Summaries for Leber Congenital Amaurosis 17

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 almost absent pupillary responses, photophobia, high hyperopia and keratoconus.

MalaCards based summary: Leber Congenital Amaurosis 17, also known as lca17, is related to brachydactyly, type a1 and klippel-feil syndrome 1. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. Affiliated tissues include retina, eye and bone, and related phenotypes are ultra-low vision with retained motion projection and Increased shRNA abundance (Z-score > 2)

Disease Ontology: ¹¹ A Leber congenital amaurosis that has material basis in mutation in the GDF6 gene on chromosome 8q22.

More information from OMIM: 615360 PS204000

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Related Diseases for Leber Congenital Amaurosis 17

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

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	brachydactyly, type a1	10.0	GDF6 GDF5
2	klippel-feil syndrome 1	10.0	GDF6 GDF5
3	klippel-feil syndrome	10.0	GDF6 GDF5
4	synostoses, tarsal, carpal, and digital	9.9	GDF6 GDF5
5	proximal symphalangism	9.9	GDF6 GDF5
6	brachydactyly, type a2	9.9	GDF6 GDF5
7	synostosis	9.8	GDF6 GDF5
8	otosclerosis	9.7	RBMXL1 GDF6
9	brachydactyly, type a1, c	9.6	GDF6 GDF5 BMP8A
10	multiple synostoses syndrome	9.5	RBMXL1 NOMO3 GDF6 GDF5
11	microphthalmia, isolated 4	9.1	RBMXL1 NOMO3 GDF6 GDF5 BMP8A

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 17:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 17

Human phenotypes related to Leber Congenital Amaurosis 17:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	ultra-low vision with retained motion projection ³⁰	Very rare (1%)		HP:0032284

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
vision limited to detection of hand motion
extinguished responses on electroretinography

Clinical features from OMIM®:

615360 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	8.92	RBMXL1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	8.92	EPHA5
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-181	8.92	EPHA5
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-52	8.92	EPHA5

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Drugs & Therapeutics for Leber Congenital Amaurosis 17

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 17

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Genetic Tests for Leber Congenital Amaurosis 17

Genetic tests related to Leber Congenital Amaurosis 17:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 17 ²⁸	GDF6

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Anatomical Context for Leber Congenital Amaurosis 17

Organs/tissues related to Leber Congenital Amaurosis 17:

MalaCards : Retina, Eye, Bone

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Publications for Leber Congenital Amaurosis 17

Articles related to Leber Congenital Amaurosis 17:

#	Title	Authors	PMID	Year
1	Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. ⁵⁷ ⁵	Asai-Coakwell M...Lehmann OJ	23307924	2013
2	Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. ⁵	Ye M...Lehmann OJ	19864492	2010
3	Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. ⁵	Tassabehji M...Clarke RA	18425797	2008

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Genes for Leber Congenital Amaurosis 17

Genes related to Leber Congenital Amaurosis 17 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GDF6	Growth Differentiation Factor 6	Protein Coding	1315.19	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	18425797 19864492 23307924
2	GDF5	Growth Differentiation Factor 5	Protein Coding	6.25	DISEASES inferred ¹⁴
3	RBMXL1	RBMX Like 1	Protein Coding	5.64	DISEASES inferred ¹⁴
4	EPHA5	EPH Receptor A5	Protein Coding	5.57	DISEASES inferred ¹⁴
5	BMP8A	Bone Morphogenetic Protein 8a	Protein Coding	5.02	DISEASES inferred ¹⁴
6	NOMO3	NODAL Modulator 3	Protein Coding	4.96	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 17

ClinVar genetic disease variations for Leber Congenital Amaurosis 17:

⁵ (show top 50) (show all 184)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GDF6	NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp)	SNV	Pathogenic	60533	rs1401531865	GRCh37: 8:97157283-97157283 GRCh38: 8:96145055-96145055
2	GDF6	NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	SNV	Pathogenic Uncertain Significance	60534	rs397514725	GRCh37: 8:97172752-97172752 GRCh38: 8:96160524-96160524
3	GDF6	NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr)	SNV	Pathogenic	30159	rs387906794	GRCh37: 8:97157564-97157564 GRCh38: 8:96145336-96145336
4	GDF6	NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	SNV	Pathogenic Benign	8371	rs121909352	GRCh37: 8:97157413-97157413 GRCh38: 8:96145185-96145185
5	GDF6	NM_001001557.4(GDF6):c.878T>C (p.Met293Thr)	SNV	Uncertain Significance	959329	rs762304422	GRCh37: 8:97157281-97157281 GRCh38: 8:96145053-96145053
6	GDF6	NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr)	SNV	Uncertain Significance	962453	rs1040541530	GRCh37: 8:97172698-97172698 GRCh38: 8:96160470-96160470
7	GDF6	NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg)	SNV	Uncertain Significance	964319	rs121909355	GRCh37: 8:97157401-97157401 GRCh38: 8:96145173-96145173
8	GDF6	NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu)	SNV	Uncertain Significance	965244	rs760516509	GRCh37: 8:97172839-97172839 GRCh38: 8:96160611-96160611
9	GDF6	NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly)	SNV	Uncertain Significance	286405	rs886043381	GRCh37: 8:97157434-97157434 GRCh38: 8:96145206-96145206
10	GDF6	NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe)	SNV	Uncertain Significance	968855	rs772435568	GRCh37: 8:97172559-97172559 GRCh38: 8:96160331-96160331
11	GDF6	NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup)	MICROSAT	Uncertain Significance	968900	rs762461479	GRCh37: 8:97157154-97157155 GRCh38: 8:96144926-96144927
12	GDF6	NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser)	SNV	Uncertain Significance	1001816	rs376427985	GRCh37: 8:97156849-97156849 GRCh38: 8:96144621-96144621
13	GDF6	NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)	SNV	Uncertain Significance	1002016	rs1444302456	GRCh37: 8:97157623-97157623 GRCh38: 8:96145395-96145395
14	GDF6	NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu)	SNV	Uncertain Significance	1007576	rs999492360	GRCh37: 8:97157548-97157548 GRCh38: 8:96145320-96145320
15	GDF6	NM_001001557.4(GDF6):c.377C>T (p.Thr126Met)	SNV	Uncertain Significance	1008100	rs536331514	GRCh37: 8:97172544-97172544 GRCh38: 8:96160316-96160316
16	GDF6	NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro)	SNV	Uncertain Significance	1008463	rs768741148	GRCh37: 8:97172649-97172649 GRCh38: 8:96160421-96160421
17	GDF6	NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg)	SNV	Uncertain Significance	1009700	rs367883918	GRCh37: 8:97172640-97172640 GRCh38: 8:96160412-96160412
18	GDF6	NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp)	SNV	Uncertain Significance	1015372	rs1812739209	GRCh37: 8:97172598-97172598 GRCh38: 8:96160370-96160370
19	GDF6	NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)	SNV	Uncertain Significance	836995	rs561421783	GRCh37: 8:97157344-97157344 GRCh38: 8:96145116-96145116
20	GDF6	NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)	SNV	Uncertain Significance	863448	rs368498747	GRCh37: 8:97172599-97172599 GRCh38: 8:96160371-96160371
21	GDF6	NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser)	SNV	Uncertain Significance	958860	rs766458579	GRCh37: 8:97172668-97172668 GRCh38: 8:96160440-96160440
22	GDF6	NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu)	SNV	Uncertain Significance	1002101	rs761634996	GRCh37: 8:97157263-97157263 GRCh38: 8:96145035-96145035
23	GDF6	NM_001001557.4(GDF6):c.31G>A (p.Val11Ile)	SNV	Uncertain Significance	1053446		GRCh37: 8:97172890-97172890 GRCh38: 8:96160662-96160662
24	GDF6	NM_001001557.4(GDF6):c.460A>G (p.Met154Val)	SNV	Uncertain Significance	835633	rs766667262	GRCh37: 8:97157699-97157699 GRCh38: 8:96145471-96145471
25	GDF6	NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro)	SNV	Uncertain Significance	836171	rs375108591	GRCh37: 8:97172754-97172754 GRCh38: 8:96160526-96160526
26	GDF6	NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly)	INDEL	Uncertain Significance	836825	rs1812445134	GRCh37: 8:97157156-97157157 GRCh38: 8:96144928-96144929
27	GDF6	NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu)	SNV	Uncertain Significance	837877	rs903826881	GRCh37: 8:97157536-97157536 GRCh38: 8:96145308-96145308
28	GDF6	NM_001001557.4(GDF6):c.27G>A (p.Ser9=)	SNV	Uncertain Significance	846167	rs1215904741	GRCh37: 8:97172894-97172894 GRCh38: 8:96160666-96160666
29	GDF6	NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser)	SNV	Uncertain Significance	851090	rs1040541530	GRCh37: 8:97172698-97172698 GRCh38: 8:96160470-96160470
30	GDF6	NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro)	SNV	Uncertain Significance	853665	rs1812463179	GRCh37: 8:97157731-97157731 GRCh38: 8:96145503-96145503
31	GDF6	NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu)	SNV	Uncertain Significance	939263	rs765928590	GRCh37: 8:97157289-97157289 GRCh38: 8:96145061-96145061
32	GDF6	NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn)	SNV	Uncertain Significance	939495	rs747899927	GRCh37: 8:97157374-97157374 GRCh38: 8:96145146-96145146
33	GDF6	NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys)	SNV	Uncertain Significance	954246	rs1303995573	GRCh37: 8:97157303-97157303 GRCh38: 8:96145075-96145075
34	GDF6	NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys)	SNV	Uncertain Significance	954499	rs1204502085	GRCh37: 8:97172616-97172616 GRCh38: 8:96160388-96160388
35	GDF6	NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys)	SNV	Uncertain Significance	912580	rs780167779	GRCh37: 8:97157342-97157342 GRCh38: 8:96145114-96145114
36	GDF6	NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr)	SNV	Uncertain Significance	1368033		GRCh37: 8:97172838-97172838 GRCh38: 8:96160610-96160610
37	GDF6	NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu)	SNV	Uncertain Significance	1355378		GRCh37: 8:97172682-97172682 GRCh38: 8:96160454-96160454
38	GDF6	NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile)	SNV	Uncertain Significance	1050339		GRCh37: 8:97156915-97156915 GRCh38: 8:96144687-96144687
39	GDF6	NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu)	SNV	Uncertain Significance	1368547		GRCh37: 8:97156981-97156981 GRCh38: 8:96144753-96144753
40	GDF6	NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu)	SNV	Uncertain Significance	1357180		GRCh37: 8:97157743-97157743 GRCh38: 8:96145515-96145515
41	GDF6	NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro)	SNV	Uncertain Significance	1357500		GRCh37: 8:97172821-97172821 GRCh38: 8:96160593-96160593
42	GDF6	NM_001001557.4(GDF6):c.513G>A (p.Gln171=)	SNV	Uncertain Significance	1356005		GRCh37: 8:97157646-97157646 GRCh38: 8:96145418-96145418
43	GDF6	NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu)	SNV	Uncertain Significance	1378435		GRCh37: 8:97157458-97157458 GRCh38: 8:96145230-96145230
44	GDF6	NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr)	SNV	Uncertain Significance	1390684		GRCh37: 8:97172556-97172556 GRCh38: 8:96160328-96160328
45	GDF6	NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln)	SNV	Uncertain Significance	1368768		GRCh37: 8:97156826-97156826 GRCh38: 8:96144598-96144598
46	GDF6	NM_001001557.4(GDF6):c.1022G>A (p.Arg341His)	SNV	Uncertain Significance	1422951		GRCh37: 8:97157137-97157137 GRCh38: 8:96144909-96144909
47	GDF6	NM_001001557.4(GDF6):c.684G>C (p.Gln228His)	SNV	Uncertain Significance	1429484		GRCh37: 8:97157475-97157475 GRCh38: 8:96145247-96145247
48	GDF6	NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro)	SNV	Uncertain Significance	1417974		GRCh37: 8:97172806-97172806 GRCh38: 8:96160578-96160578
49	GDF6	NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp)	SNV	Uncertain Significance	1417427		GRCh37: 8:97157351-97157351 GRCh38: 8:96145123-96145123
50	GDF6	NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro)	SNV	Uncertain Significance	1461462		GRCh37: 8:97157746-97157746 GRCh38: 8:96145518-96145518

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 17:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	GDF6	p.Ala249Glu	VAR_046903	rs121909352
2	GDF6	p.Ala199Thr	VAR_065151	rs387906794
3	GDF6	p.Asp57His	VAR_070254	rs397514725
4	GDF6	p.Glu292Asp	VAR_070255	rs1401531865

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Expression for Leber Congenital Amaurosis 17

Search GEO for disease gene expression data for Leber Congenital Amaurosis 17.

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Pathways for Leber Congenital Amaurosis 17

Pathways related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.31	GDF6 GDF5 EPHA5 BMP8A
2	GPCR Pathway ⁶⁴ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶⁴ Estrogen Pathway ⁶⁴ NFAT in Immune Response ⁶⁴ P2Y Receptor Signaling ⁶⁴ Pancreatic Adenocarcinoma ⁶⁴ Paxillin Interactions ⁶⁴ Ras Pathway ⁶⁴	13.18	GDF6 GDF5 EPHA5 BMP8A
3	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.05	GDF6 GDF5 EPHA5 BMP8A
4	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.02	GDF6 GDF5 EPHA5 BMP8A
5	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	12.88	GDF6 GDF5 EPHA5 BMP8A
6	CREB Pathway ⁶⁴ Show member pathways Activation of PKC through GPCR ⁶⁴ Intracellular Calcium Signaling ⁶⁴ IP3 Pathway ⁶⁴	12.75	GDF6 GDF5 EPHA5 BMP8A
7	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	12.67	GDF6 GDF5 EPHA5 BMP8A
8	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.59	GDF6 GDF5 BMP8A
9	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	12.44	GDF6 GDF5 EPHA5 BMP8A
10	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.2	BMP8A GDF5 GDF6
11	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.14	GDF6 GDF5 BMP8A
12	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ⁶¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ⁶¹	11.54	GDF6 GDF5 EPHA5 BMP8A
13	G-protein signaling_RhoA regulation pathway ²²	10.61	GDF6 GDF5 EPHA5 BMP8A
14	G-protein signaling_Rap2B regulation pathway ²²	10.36	GDF6 GDF5 EPHA5 BMP8A

Sources

GO Terms for Leber Congenital Amaurosis 17

Biological processes related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of neuron differentiation	GO:0045666	9.67	GDF6 GDF5
2	BMP signaling pathway	GO:0030509	9.63	GDF6 GDF5 BMP8A
3	positive regulation of chondrocyte differentiation	GO:0032332	9.56	GDF6 GDF5
4	cartilage development	GO:0051216	9.5	GDF5 BMP8A
5	SMAD protein signal transduction	GO:0060395	9.43	GDF6 GDF5 BMP8A
6	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.1	GDF6 GDF5 BMP8A

Molecular functions related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytokine activity	GO:0005125	9.43	GDF6 GDF5 BMP8A
2	growth factor activity	GO:0008083	9.1	GDF6 GDF5 BMP8A

Sources

Sources for Leber Congenital Amaurosis 17

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

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⁷³ UniProtKB/Swiss-Prot

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LCA17 MCID: LBR029 MIFTS: 36	Leber Congenital Amaurosis 17 (LCA17) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leber Congenital Amaurosis 17 (LCA17)

Aliases & Classifications for Leber Congenital Amaurosis 17

MalaCards integrated aliases for Leber Congenital Amaurosis 17:

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Summaries for Leber Congenital Amaurosis 17

Related Diseases for Leber Congenital Amaurosis 17

Diseases in the Leber Congenital Amaurosis 4 family:

Diseases related to Leber Congenital Amaurosis 17 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 17:

Symptoms & Phenotypes for Leber Congenital Amaurosis 17

Human phenotypes related to Leber Congenital Amaurosis 17:

Symptoms via clinical synopsis from OMIM®:

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GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

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Genes related to Leber Congenital Amaurosis 17 (1 elite genes):

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ClinVar genetic disease variations for Leber Congenital Amaurosis 17:

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Expression for Leber Congenital Amaurosis 17

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Biological processes related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

Molecular functions related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 17