LCA16
MCID: LBR011
MIFTS: 42

Leber Congenital Amaurosis 16 (LCA16)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 16

MalaCards integrated aliases for Leber Congenital Amaurosis 16:

Name: Leber Congenital Amaurosis 16 57 11 73 28 5 14 71
Lca16 57 11 73
Leber Congenital Amaurosis, Type 16 38

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0110118
OMIM® 57 614186
OMIM Phenotypic Series 57 PS204000
MeSH 43 D057130
ICD10 31 H35.5
MedGen 40 C3280062
UMLS 71 C3280062

Summaries for Leber Congenital Amaurosis 16

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.

MalaCards based summary: Leber Congenital Amaurosis 16, also known as lca16, is related to vitreoretinal degeneration, snowflake type and leber plus disease, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 16 is KCNJ13 (Potassium Inwardly Rectifying Channel Subfamily J Member 13), and among its related pathways/superpathways are Ciliary landscape and Ciliopathies. Affiliated tissues include retina and eye, and related phenotypes are strabismus and nystagmus

Disease Ontology: 11 A Leber congenital amaurosis that has material basis in mutation in the KCNJ13 gene on chromosome 2q37.

More information from OMIM: 614186 PS204000

Related Diseases for Leber Congenital Amaurosis 16

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 vitreoretinal degeneration, snowflake type 29.9 KCNJ13 GIGYF2 BEST1
2 leber plus disease 26.6 TULP1 SPATA7 RPE65 RDH12 LCA5 KCNV2
3 cone-rod dystrophy 17 10.2 GUCY2D AIPL1
4 partial central choroid dystrophy 10.2 RPE65 GUCY2D
5 hereditary choroidal atrophy 10.2 RPE65 GUCY2D
6 retinitis pigmentosa 38 10.2 GUCY2D AIPL1
7 vitreous syneresis 10.2 KCNJ13 CRB1
8 gapo syndrome 10.1 CRB1 AIPL1
9 vitreoretinal dystrophy 10.1 KCNJ13 BEST1
10 retinitis pigmentosa 12 10.1 CRB1 AIPL1
11 scotoma 10.1 RPE65 GUCY2D
12 progressive cone dystrophy 10.1 KCNV2 GUCY2D
13 occult macular dystrophy 10.1 KCNV2 GUCY2D
14 pseudoretinitis pigmentosa 10.0 TULP1 CRB1
15 aqueous misdirection 10.0 CRB1 BEST1
16 retinitis pigmentosa 50 10.0 RPE65 BEST1
17 enophthalmos 10.0 GUCY2D CRB1
18 acquired night blindness 10.0 TULP1 KCNV2
19 pigmented paravenous chorioretinal atrophy 10.0 GUCY2D CRB1 AIPL1
20 optic disk drusen 10.0 CRB1 BEST1
21 acute closed-angle glaucoma 10.0 CRB1 BEST1
22 vitreoretinochoroidopathy 10.0 RPE65 BEST1
23 usher syndrome type 2 10.0 RPE65 GUCY2D CRB1
24 severe early-childhood-onset retinal dystrophy 10.0 SPATA7 RPE65 LCA5
25 blue cone monochromacy 10.0 KCNV2 GUCY2D
26 vitreoretinal degeneration 10.0
27 cold-induced sweating syndrome 3 10.0 RPE65 GUCY2D BEST1
28 retinitis 9.9 TULP1 RPE65 CRB1
29 choroideremia 9.9 RPE65 GUCY2D BEST1
30 macular dystrophy, dominant cystoid 9.9 RPE65 CRB1 BEST1
31 bestrophinopathy, autosomal recessive 9.9 RPE65 CRB1 BEST1
32 macular retinal edema 9.9 RPE65 CRB1 BEST1
33 degeneration of macula and posterior pole 9.9 RPE65 CRB1 BEST1
34 lens disease 9.9 RPE65 CRB1 BEST1
35 vitreous disease 9.9 RPE65 BEST1
36 enhanced s-cone syndrome 9.9 RPE65 GUCY2D CRB1 AIPL1
37 cone-rod dystrophy 13 9.9 SPATA7 IQCB1
38 physical disorder 9.9 RPE65 GUCY2D CRB1 AIPL1
39 doyne honeycomb retinal dystrophy 9.8 CRB1 BEST1
40 gyrate atrophy of choroid and retina 9.8 RPE65 RDH12 BEST1
41 choroid disease 9.8 RPE65 GUCY2D CRB1 BEST1
42 refractive error 9.8 RPE65 GUCY2D CRB1 BEST1
43 sensory system disease 9.8 RPE65 CRB1 BEST1
44 chorioretinal scar 9.8 RDH12 CRB1 BEST1
45 retinal disease 9.7 RPE65 GUCY2D CRB1 BEST1
46 color blindness 9.7 RPE65 KCNV2 GUCY2D CRB1 AIPL1
47 nanophthalmos 9.7 TULP1 RPE65 CRB1 BEST1
48 microphthalmia, isolated 6 9.7 IQCB1 CRB1 BEST1
49 choroidal dystrophy, central areolar, 1 9.6 RPE65 GUCY2D CRB1 BEST1 AIPL1
50 hereditary retinal dystrophy 9.6 SPATA7 RPE65 GUCY2D CRB1 BEST1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 16:



Diseases related to Leber Congenital Amaurosis 16

Symptoms & Phenotypes for Leber Congenital Amaurosis 16

Human phenotypes related to Leber Congenital Amaurosis 16:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 30 Occasional (7.5%) HP:0000486
2 nystagmus 30 HP:0000639
3 cataract 30 HP:0000518
4 photophobia 30 HP:0000613
5 reduced visual acuity 30 HP:0007663
6 nyctalopia 30 HP:0000662
7 optic disc pallor 30 HP:0000543

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
cataract
photophobia
poor visual acuity
attenuated retinal vessels
more

Clinical features from OMIM®:

614186 (Updated 08-Dec-2022)

UMLS symptoms related to Leber Congenital Amaurosis 16:


photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 16:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.65 AIPL1 CRB1 GIGYF2 GUCY2D KCNV2 LCA5
2 pigmentation MP:0001186 9.55 BEST1 CRB1 LCA5 RPE65 TULP1
3 vision/eye MP:0005391 9.36 AIPL1 BEST1 CRB1 GUCY2D IQCB1 KCNV2

Drugs & Therapeutics for Leber Congenital Amaurosis 16

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 16

Genetic Tests for Leber Congenital Amaurosis 16

Genetic tests related to Leber Congenital Amaurosis 16:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 16 28 KCNJ13

Anatomical Context for Leber Congenital Amaurosis 16

Organs/tissues related to Leber Congenital Amaurosis 16:

MalaCards : Retina, Eye

Publications for Leber Congenital Amaurosis 16

Articles related to Leber Congenital Amaurosis 16:

# Title Authors PMID Year
1
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). 62 57 5
25921210 2015
2
A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations. 57 5
25475713 2015
3
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. 57 5
21763485 2011
4
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. 5
27203561 2017
5
Protrusion of KCNJ13 Gene Knockout Retinal Pigment Epithelium Due to Oxidative Stress-Induced Cell Death. 62
36413373 2022
6
Sensing through Non-Sensing Ocular Ion Channels. 62
32967234 2020
7
KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells. 62
32437550 2020
8
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness. 62
30686507 2019
9
Focus on Kir7.1: physiology and channelopathy. 62
25558901 2014
10
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301475 2004

Variations for Leber Congenital Amaurosis 16

ClinVar genetic disease variations for Leber Congenital Amaurosis 16:

5 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) SNV Pathogenic
191155 rs786205550 GRCh37: 2:233635714-233635714
GRCh38: 2:232771004-232771004
2 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter) SNV Pathogenic
224857 rs869320631 GRCh37: 2:233635915-233635915
GRCh38: 2:232771205-232771205
3 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter) SNV Pathogenic
30331 rs387906858 GRCh37: 2:233633488-233633488
GRCh38: 2:232768778-232768778
4 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro) SNV Pathogenic
30332 rs143607153 GRCh37: 2:233633262-233633262
GRCh38: 2:232768552-232768552
5 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.494del (p.Asn165fs) DEL Pathogenic
978432 rs1699091441 GRCh37: 2:233633490-233633490
GRCh38: 2:232768780-232768780
6 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter) SNV Pathogenic
978433 rs1475176373 GRCh37: 2:233633329-233633329
GRCh38: 2:232768619-232768619
7 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile) SNV Likely Pathogenic
978434 rs1699223440 GRCh37: 2:233635759-233635759
GRCh38: 2:232771049-232771049
8 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) SNV Likely Pathogenic
216947 rs863224884 GRCh37: 2:233635615-233635615
GRCh38: 2:232770905-232770905
9 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.548G>A (p.Gly183Asp) SNV Uncertain Significance
335055 rs886055797 GRCh37: 2:233633436-233633436
GRCh38: 2:232768726-232768726
10 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1201C>T SNV Uncertain Significance
335038 rs116740510 GRCh37: 2:233631700-233631700
GRCh38: 2:232766990-232766990
11 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro) SNV Uncertain Significance
916717 rs1361858388 GRCh37: 2:233635642-233635642
GRCh38: 2:232770932-232770932
12 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn) SNV Uncertain Significance
335053 rs146797648 GRCh37: 2:233633295-233633295
GRCh38: 2:232768585-232768585
13 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.485G>A (p.Arg162Gln) SNV Uncertain Significance
899321 rs757304681 GRCh37: 2:233633499-233633499
GRCh38: 2:232768789-232768789
14 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.474G>A (p.Ala158=) SNV Uncertain Significance
335057 rs769501717 GRCh37: 2:233633510-233633510
GRCh38: 2:232768800-232768800
15 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.141C>T (p.Ile47=) SNV Uncertain Significance
895230 rs770352640 GRCh37: 2:233635932-233635932
GRCh38: 2:232771222-232771222
16 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*619C>T SNV Uncertain Significance
335043 rs114432797 GRCh37: 2:233632282-233632282
GRCh38: 2:232767572-232767572
17 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.-74C>T SNV Uncertain Significance
335060 rs755592443 GRCh37: 2:233641212-233641212
GRCh38: 2:232776502-232776502
18 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*957A>G SNV Uncertain Significance
335040 rs886055793 GRCh37: 2:233631944-233631944
GRCh38: 2:232767234-232767234
19 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*2324C>T SNV Uncertain Significance
335029 rs74547374 GRCh37: 2:233630577-233630577
GRCh38: 2:232765867-232765867
20 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*290T>C SNV Uncertain Significance
335046 rs191388517 GRCh37: 2:233632611-233632611
GRCh38: 2:232767901-232767901
21 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*94A>C SNV Uncertain Significance
335052 rs570138880 GRCh37: 2:233632807-233632807
GRCh38: 2:232768097-232768097
22 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*2153G>A SNV Uncertain Significance
898162 rs960685260 GRCh37: 2:233630748-233630748
GRCh38: 2:232766038-232766038
23 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*326A>G SNV Uncertain Significance
898214 rs554909970 GRCh37: 2:233632575-233632575
GRCh38: 2:232767865-232767865
24 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*2007T>G SNV Uncertain Significance
899261 rs1698955802 GRCh37: 2:233630894-233630894
GRCh38: 2:232766184-232766184
25 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1757A>T SNV Uncertain Significance
899262 rs561198746 GRCh37: 2:233631144-233631144
GRCh38: 2:232766434-232766434
26 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1718T>C SNV Uncertain Significance
899263 rs1698968203 GRCh37: 2:233631183-233631183
GRCh38: 2:232766473-232766473
27 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*371T>C SNV Uncertain Significance
335044 rs539079150 GRCh37: 2:233632530-233632530
GRCh38: 2:232767820-232767820
28 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*68T>C SNV Uncertain Significance
899319 rs1048157859 GRCh37: 2:233632833-233632833
GRCh38: 2:232768123-232768123
29 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.870G>A (p.Pro290=) SNV Uncertain Significance
899320 rs539013622 GRCh37: 2:233633114-233633114
GRCh38: 2:232768404-232768404
30 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.-110A>T SNV Uncertain Significance
335061 rs374864322 GRCh37: 2:233641248-233641248
GRCh38: 2:232776538-232776538
31 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*256G>A SNV Uncertain Significance
335047 rs568320995 GRCh37: 2:233632645-233632645
GRCh38: 2:232767935-232767935
32 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1881T>A SNV Uncertain Significance
335030 rs369335960 GRCh37: 2:233631020-233631020
GRCh38: 2:232766310-232766310
33 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1804G>A SNV Uncertain Significance
335033 rs886055791 GRCh37: 2:233631097-233631097
GRCh38: 2:232766387-232766387
34 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*121A>G SNV Uncertain Significance
335050 rs147795007 GRCh37: 2:233632780-233632780
GRCh38: 2:232768070-232768070
35 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.-73T>C SNV Uncertain Significance
335059 rs886055798 GRCh37: 2:233641211-233641211
GRCh38: 2:232776501-232776501
36 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1500G>A SNV Uncertain Significance
335036 rs543305193 GRCh37: 2:233631401-233631401
GRCh38: 2:232766691-232766691
37 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1088T>C SNV Uncertain Significance
335039 rs768069588 GRCh37: 2:233631813-233631813
GRCh38: 2:232767103-232767103
38 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*692T>C SNV Uncertain Significance
335042 rs150909352 GRCh37: 2:233632209-233632209
GRCh38: 2:232767499-232767499
39 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*342A>G SNV Uncertain Significance
335045 rs886055794 GRCh37: 2:233632559-233632559
GRCh38: 2:232767849-232767849
40 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.621A>G (p.Val207=) SNV Uncertain Significance
335054 rs886055796 GRCh37: 2:233633363-233633363
GRCh38: 2:232768653-232768653
41 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1867T>C SNV Uncertain Significance
335031 rs144253492 GRCh37: 2:233631034-233631034
GRCh38: 2:232766324-232766324
42 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1758T>A SNV Uncertain Significance
335034 rs886055792 GRCh37: 2:233631143-233631143
GRCh38: 2:232766433-232766433
43 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*102T>G SNV Uncertain Significance
335051 rs886055795 GRCh37: 2:233632799-233632799
GRCh38: 2:232768089-232768089
44 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1635T>C SNV Uncertain Significance
895166 rs80042330 GRCh37: 2:233631266-233631266
GRCh38: 2:232766556-232766556
45 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1553T>G SNV Uncertain Significance
895167 rs1559414303 GRCh37: 2:233631348-233631348
GRCh38: 2:232766638-232766638
46 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1195G>T SNV Uncertain Significance
895168 rs1016045931 GRCh37: 2:233631706-233631706
GRCh38: 2:232766996-232766996
47 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*1159T>C SNV Uncertain Significance
895169 rs1000548585 GRCh37: 2:233631742-233631742
GRCh38: 2:232767032-232767032
48 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.242T>C (p.Met81Thr) SNV Uncertain Significance
895229 rs371256707 GRCh37: 2:233635831-233635831
GRCh38: 2:232771121-232771121
49 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.125G>C (p.Arg42Pro) SNV Uncertain Significance
895231 rs1699233151 GRCh37: 2:233635948-233635948
GRCh38: 2:232771238-232771238
50 GIGYF2, KCNJ13 NM_002242.4(KCNJ13):c.*856A>G SNV Uncertain Significance
896585 rs1699015911 GRCh37: 2:233632045-233632045
GRCh38: 2:232767335-232767335

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 16:

73
# Symbol AA change Variation ID SNP ID
1 KCNJ13 p.Gln117Arg VAR_066488
2 KCNJ13 p.Leu241Pro VAR_066490 rs143607153

Expression for Leber Congenital Amaurosis 16

Search GEO for disease gene expression data for Leber Congenital Amaurosis 16.

Pathways for Leber Congenital Amaurosis 16

Pathways related to Leber Congenital Amaurosis 16 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.82 SPATA7 LCA5 IQCB1
2 11.31 TULP1 SPATA7 LCA5 IQCB1
3 11.3 RPE65 RDH12 GUCY2D
4
Show member pathways
11.06 RPE65 RDH12
5 10.99 RPE65 RDH12
6 10.51 RPE65 RDH12
7 10.16 RPE65 RDH12 GUCY2D

GO Terms for Leber Congenital Amaurosis 16

Cellular components related to Leber Congenital Amaurosis 16 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 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.86 TULP1 SPATA7 RPE65 RDH12 GUCY2D BEST1
2 visual perception GO:0007601 9.83 TULP1 SPATA7 RPE65 RDH12 GUCY2D CRB1
3 retina homeostasis GO:0001895 9.8 TULP1 RPE65 AIPL1
4 eye photoreceptor cell development GO:0042462 9.78 TULP1 CRB1
5 detection of light stimulus involved in visual perception GO:0050908 9.76 BEST1 CRB1 RPE65 TULP1
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.73 GUCY2D AIPL1
7 retina development in camera-type eye GO:0060041 9.71 TULP1 RPE65 CRB1
8 protein localization to photoreceptor outer segment GO:1903546 9.67 TULP1 SPATA7
9 retina morphogenesis in camera-type eye GO:0060042 9.63 RPE65 CRB1
10 photoreceptor cell maintenance GO:0045494 9.4 TULP1 SPATA7 RDH12 LCA5 IQCB1 CRB1

Sources for Leber Congenital Amaurosis 16

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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