Rare disease: Leber congenital amaurosis (Orphanet code 65)
Associated genes:
Name: ubiquitin specific peptidase 45
Symbol: USP45
Synonyms: lang: en
text: MGC14793
GeneType: Name: gene with protein product
Name: tubulin beta 4B class IVb
Symbol: TUBB4B
Synonyms: lang: en
text: Beta2
lang: en
text: class IVb beta-tubulin
GeneType: Name: gene with protein product
Name: spermatogenesis associated 7
Symbol: SPATA7
Synonyms: lang: en
text: HSD3
GeneType: Name: gene with protein product
Name: growth differentiation factor 6
Symbol: GDF6
Synonyms: lang: en
text: BMP13
lang: en
text: KFS
lang: en
text: KFS1
GeneType: Name: gene with protein product
Name: intraflagellar transport 140
Symbol: IFT140
Synonyms: lang: en
text: KIAA0590
lang: en
text: gs114
GeneType: Name: gene with protein product
Name: nicotinamide nucleotide adenylyltransferase 1
Symbol: NMNAT1
Synonyms: lang: en
text: NMNAT
lang: en
text: PNAT1
lang: en
text: nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
GeneType: Name: gene with protein product
Name: RD3 regulator of GUCY2D
Symbol: RD3
Synonyms: lang: en
text: LCA12
GeneType: Name: gene with protein product
Name: retinol dehydrogenase 12
Symbol: RDH12
Synonyms: lang: en
text: FLJ30273
lang: en
text: LCA13
lang: en
text: RP53
lang: en
text: SDR7C2
lang: en
text: short chain dehydrogenase/reductase family 7C, member 2
GeneType: Name: gene with protein product
Name: retinoid isomerohydrolase RPE65
Symbol: RPE65
Synonyms: lang: en
text: BCO family, member 3
lang: en
text: BCO3
lang: en
text: LCA2
lang: en
text: all-trans-retinyl-palmitate hydrolase
lang: en
text: rd12
lang: en
text: retinol isomerase
GeneType: Name: gene with protein product
Name: RPGR interacting protein 1
Symbol: RPGRIP1
Synonyms: lang: en
text: CORD13
lang: en
text: LCA6
lang: en
text: RGI1
GeneType: Name: gene with protein product
Name: centrosomal protein 290
Symbol: CEP290
Synonyms: lang: en
text: 3H11Ag
lang: en
text: BBS14
lang: en
text: Bardet-Biedl syndrome 14
lang: en
text: CT87
lang: en
text: FLJ13615
lang: en
text: JBTS5
lang: en
text: Joubert syndrome 5
lang: en
text: KIAA0373
lang: en
text: LCA10
lang: en
text: MKS4
lang: en
text: Meckel syndrome, type 4
lang: en
text: NPHP6
lang: en
text: POC3
lang: en
text: POC3 centriolar protein homolog (Chlamydomonas)
lang: en
text: SLSN6
lang: en
text: cancer/testis antigen 87
lang: en
text: nephrocystin-6
lang: en
text: rd16
GeneType: Name: gene with protein product
Name: aryl hydrocarbon receptor interacting protein like 1
Symbol: AIPL1
GeneType: Name: gene with protein product
Name: TUB like protein 1
Symbol: TULP1
Synonyms: lang: en
text: LCA15
lang: en
text: TUBL1
GeneType: Name: gene with protein product
Name: crumbs cell polarity complex component 1
Symbol: CRB1
Synonyms: lang: en
text: LCA8
GeneType: Name: gene with protein product
Name: cone-rod homeobox
Symbol: CRX
Synonyms: lang: en
text: CRD
lang: en
text: LCA7
lang: en
text: OTX3
lang: en
text: orthodenticle homeobox 3
GeneType: Name: gene with protein product
Name: guanylate cyclase 2D, retinal
Symbol: GUCY2D
Synonyms: lang: en
text: CYGD
lang: en
text: LCA1
lang: en
text: Leber congenital amaurosis 1
lang: en
text: RETGC-1
lang: en
text: ROS-GC
lang: en
text: ROS-GC1
lang: en
text: retGC
lang: en
text: retinal guanylate cyclase 1
lang: en
text: rod outer segment membrane guanylate cyclase
GeneType: Name: gene with protein product
Name: inosine monophosphate dehydrogenase 1
Symbol: IMPDH1
Synonyms: lang: en
text: LCA11
lang: en
text: sWSS2608
GeneType: Name: gene with protein product
Name: IQ motif containing B1
Symbol: IQCB1
Synonyms: lang: en
text: KIAA0036
lang: en
text: NPHP5
lang: en
text: SLSN5
lang: en
text: nephrocystin-5
GeneType: Name: gene with protein product
Name: lebercilin LCA5
Symbol: LCA5
GeneType: Name: gene with protein product
Name: potassium inwardly rectifying channel subfamily J member 13
Symbol: KCNJ13
Synonyms: lang: en
text: Kir1.4
lang: en
text: Kir7.1
lang: en
text: LCA16
GeneType: Name: gene with protein product
Name: lecithin retinol acyltransferase
Symbol: LRAT
Synonyms: lang: en
text: LCA14
lang: en
text: phosphatidylcholine--retinol O-acyltransferase
GeneType: Name: gene with protein product
Name: phosphate cytidylyltransferase 1A, choline
Symbol: PCYT1A
Synonyms: lang: en
text: CCTalpha
lang: en
text: CT
lang: en
text: CTP:phosphocholine cytidylyltransferase-alpha
lang: en
text: CTPCT
lang: en
text: choline-phosphate cytidylyltransferase alpha
lang: en
text: phosphorylcholine transferase alpha
GeneType: Name: gene with protein product