Disease Aliases (46) | Amaurosis congenita of leber i Abiotrophies, leber Abiotrophy, leber Amauroses, leber congenital Amauroses, leber's Amaurosis congenita of leber Amaurosis congenita of leber, type 1 Amaurosis, leber congenital Amaurosis, leber's Blindness, congenital retinal Blindnesses, congenital retinal Crb Crb - congenital retinal blindness Congenital amauroses, leber Congenital amaurosis of retinal origin Congenital amaurosis, leber Congenital retinal blindness Congenital retinal blindnesses Congenital absence of the rods and cones Dysgenesis neuroepithelialis retinae Gucy2d leber congenital amaurosis Hereditary epithelial dysplasia of retina Hereditary retinal aplasia Heredoretinopathia congenitalis Lca Lca1 Leber abiotrophies Leber abiotrophy Leber amaurosis Leber congenital amauroses Leber congenital tapetoretinal degeneration Leber congenital amaurosis 1 Leber congenital amaurosis 1; lca1 Leber congenital amaurosis caused by mutation in gucy2d Leber congenital amaurosis type 1 Leber's amauroses Leber's amaurosis Leber's congenital amaurosis Leber's congenital tapetoretinal degeneration Leber's congenital tapetoretinal dysplasia Leber's disease Lebers amaurosis Retinal blindness, congenital Retinal blindnesses, congenital Amaurosis congenita of leber 1 |
Associated Genes (21) NCBI-RefSeq: AIPL1 (Aryl hydrocarbon receptor interacting protein like 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: GDF6 (Growth differentiation factor 6) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: GUCY2D (Guanylate cyclase 2D, retinal) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: IMPDH1 (Inosine monophosphate dehydrogenase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: KCNJ13 (Potassium inwardly rectifying channel subfamily J member 13) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: LRAT (Lecithin retinol acyltransferase) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RPE65 (Retinoid isomerohydrolase RPE65) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: IQCB1 (IQ motif containing B1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: PCYT1A (Phosphate cytidylyltransferase 1A, choline) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: TULP1 (TUB like protein 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RPGRIP1 (RPGR interacting protein 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: NMNAT1 (Nicotinamide nucleotide adenylyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RD3 (RD3 regulator of GUCY2D) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RDH12 (Retinol dehydrogenase 12) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: USP45 (Ubiquitin specific peptidase 45) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SPATA7 (Spermatogenesis associated 7) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: CRB1 (Crumbs cell polarity complex component 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: CRX (Cone-rod homeobox) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: LCA5 (Lebercilin LCA5) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: CEP290 (Centrosomal protein 290) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: IFT140 (Intraflagellar transport 140) External Links: gnomAD browser Ensembl GeneCards
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Cross-references of Leber congenital amaurosis | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |