CORD13
MCID: CNR024
MIFTS: 40

Cone-Rod Dystrophy 13 (CORD13)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 13

MalaCards integrated aliases for Cone-Rod Dystrophy 13:

Name: Cone-Rod Dystrophy 13 57 12 72 29 13 6 15 70
Cord13 57 12 72
Dystrophy, Cone-Rod, Type 13 39

Characteristics:

HPO:

31
cone-rod dystrophy 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111016
OMIM® 57 608194
OMIM Phenotypic Series 57 PS120970
MeSH 44 D000071700
MedGen 41 C2750720
UMLS 70 C2750720

Summaries for Cone-Rod Dystrophy 13

UniProtKB/Swiss-Prot : 72 Cone-rod dystrophy 13: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 13, also known as cord13, is related to cone-rod dystrophy 1 and leber congenital amaurosis 5. An important gene associated with Cone-Rod Dystrophy 13 is RPGRIP1 (RPGR Interacting Protein 1). Affiliated tissues include eye, kidney and liver, and related phenotypes are photophobia and reduced visual acuity

Disease Ontology : 12 A cone-rod dystrophy that has material basis in mutation in the RPGRIP1 gene on chromosome 14q11.2.

More information from OMIM: 608194 PS120970

Related Diseases for Cone-Rod Dystrophy 13

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 1 10.2 RPGRIP1 NPHP4
2 leber congenital amaurosis 5 10.2 SPATA7 RPGRIP1
3 optic disk drusen 10.2 RPGRIP1 RPGR
4 leber congenital amaurosis 6 10.2 SPATA7 RPGRIP1
5 leber congenital amaurosis 14 10.1 SPATA7 IQCB1
6 ciliopathy 10.1 RPGRIP1L NPHP4
7 leber congenital amaurosis 15 10.1 SPATA7 IQCB1
8 retinal aplasia 10.1 NPHP4 IQCB1
9 nephronophthisis 4 10.1 RPGRIP1 NPHP4
10 nephronophthisis 13 10.1 NPHP4 IQCB1
11 nephronophthisis 18 10.1 NPHP4 IQCB1
12 joubert syndrome 7 10.1 RPGRIP1L RPGRIP1
13 cogan syndrome 10.1 RPGRIP1L NPHP4
14 nephronophthisis 15 10.1 NPHP4 IQCB1
15 joubert syndrome 15 10.0 RPGRIP1L NPHP4
16 leber congenital amaurosis 2 10.0 SPATA7 RPGRIP1 RPGR
17 leber congenital amaurosis 1 10.0 SPATA7 RPGRIP1 IQCB1
18 meckel syndrome, type 2 10.0 RPGRIP1L NPHP4
19 leber congenital amaurosis 13 10.0 SPATA7 RPGRIP1 IQCB1
20 renal-hepatic-pancreatic dysplasia 10.0 NPHP4 IQCB1
21 leber congenital amaurosis 4 10.0 SPATA7 RPGRIP1 IQCB1
22 retinitis pigmentosa 3 10.0 RPGRIP1 RPGR IQCB1
23 retinitis pigmentosa 34 10.0 RPGRIP1 RPGR IQCB1
24 color blindness 10.0 RPGRIP1 RPGR
25 cone-rod dystrophy 6 10.0 RPGRIP1 RPGR IQCB1
26 meckel syndrome, type 5 10.0 RPGRIP1L NPHP4
27 cone-rod dystrophy, x-linked, 3 9.9 RPGR NYX
28 meckel syndrome, type 3 9.9 RPGRIP1L NPHP4
29 joubert syndrome 5 9.9 RPGRIP1L IQCB1
30 achromatopsia 3 9.9 RPGRIP1 NYX
31 alstrom syndrome 9.9 RPGRIP1L RPGR IQCB1
32 nephronophthisis 7 9.9 RPGRIP1L NPHP4 IQCB1
33 nephronophthisis 11 9.9 RPGRIP1L NPHP4 IQCB1
34 nephronophthisis 16 9.9 RPGRIP1L NPHP4 IQCB1
35 nephronophthisis 14 9.9 RPGRIP1L NPHP4 IQCB1
36 nephronophthisis 12 9.9 RPGRIP1L NPHP4 IQCB1
37 nephronophthisis 9 9.8 RPGRIP1L NPHP4 IQCB1
38 meckel syndrome, type 4 9.8 RPGRIP1L NPHP4 IQCB1
39 joubert syndrome 4 9.8 RPGRIP1L NPHP4 IQCB1
40 meckel syndrome, type 6 9.8 RPGRIP1L NPHP4 IQCB1
41 coach syndrome 1 9.8 RPGRIP1L NPHP4 IQCB1
42 cone dystrophy 9.8 SPATA7 RPGRIP1 RPGR
43 polycystic kidney disease 4 with or without polycystic liver disease 9.8 RPGRIP1L NPHP4 IQCB1
44 retinal ciliopathy 9.8 SPATA7 RPGRIP1 RPGR IQCB1
45 leber congenital amaurosis 10 9.8 SPATA7 RPGRIP1 RPGR IQCB1
46 coloboma of macula 9.8 RPGRIP1L NPHP4 IQCB1
47 leber congenital amaurosis 3 9.8 SPATA7 RPGRIP1 NPHP4 IQCB1
48 bardet-biedl syndrome 14 9.8 RPGRIP1L IQCB1
49 polycystic kidney disease 1 with or without polycystic liver disease 9.8 RPGRIP1L NPHP4 IQCB1
50 keratoconus 9.7 VSX1 SPATA7 IQCB1

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 13:



Diseases related to Cone-Rod Dystrophy 13

Symptoms & Phenotypes for Cone-Rod Dystrophy 13

Human phenotypes related to Cone-Rod Dystrophy 13:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 reduced visual acuity 31 HP:0007663
3 color vision defect 31 HP:0000551
4 macular degeneration 31 HP:0000608
5 cone/cone-rod dystrophy 31 HP:0000548
6 undetectable light- and dark-adapted electroretinogram 31 HP:0007688

Clinical features from OMIM®:

608194 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 NPHP4 RPGR RPGRIP1 RPGRIP1L SPATA7 TRPM3
2 vision/eye MP:0005391 9.17 NPHP4 NYX RPGR RPGRIP1 RPGRIP1L SPATA7

Drugs & Therapeutics for Cone-Rod Dystrophy 13

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 13

Genetic Tests for Cone-Rod Dystrophy 13

Genetic tests related to Cone-Rod Dystrophy 13:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 13 29 RPGRIP1

Anatomical Context for Cone-Rod Dystrophy 13

MalaCards organs/tissues related to Cone-Rod Dystrophy 13:

40
Eye, Kidney, Liver

Publications for Cone-Rod Dystrophy 13

Articles related to Cone-Rod Dystrophy 13:

(show all 16)
# Title Authors PMID Year
1
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 6 57
12920076 2003
2
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate. 6
30202406 2018
3
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 6
30576320 2018
4
The genetic profile of Leber congenital amaurosis in an Australian cohort. 6
29178642 2017
5
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. 6
28714225 2017
6
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
7
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
8
Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. 6
25445212 2015
9
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 6
24997176 2014
10
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
11
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 6
20079931 2010
12
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 6
17964524 2007
13
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. 6
11528500 2001
14
Null RPGRIP1 alleles in patients with Leber congenital amaurosis. 6
11283794 2001
15
Reduced metabolic function and structural alterations in inherited retinal dystrophies: investigating the effect of peripapillary vessel oxygen saturation and vascular diameter on the retinal nerve fibre layer thickness. 61
27682439 2017
16
Novel frameshift mutations in CRX associated with Leber congenital amaurosis. 61
11748859 2001

Variations for Cone-Rod Dystrophy 13

ClinVar genetic disease variations for Cone-Rod Dystrophy 13:

6 (show top 50) (show all 316)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPGRIP1 NM_020366.3(RPGRIP1):c.154C>T (p.Arg52Ter) SNV Pathogenic 195355 rs192003551 GRCh37: 14:21762904-21762904
GRCh38: 14:21294745-21294745
2 RPGRIP1 NM_020366.3(RPGRIP1):c.2480G>T (p.Arg827Leu) SNV Pathogenic 4986 rs28937883 GRCh37: 14:21794102-21794102
GRCh38: 14:21325943-21325943
3 RPGRIP1 NM_020366.3(RPGRIP1):c.2017C>T (p.Gln673Ter) SNV Pathogenic 578421 rs1566341956 GRCh37: 14:21793031-21793031
GRCh38: 14:21324872-21324872
4 RPGRIP1 NM_020366.3(RPGRIP1):c.3617+1G>A SNV Pathogenic 587410 rs771116776 GRCh37: 14:21813357-21813357
GRCh38: 14:21345198-21345198
5 RPGRIP1 NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) SNV Pathogenic 585296 rs759940113 GRCh37: 14:21794062-21794062
GRCh38: 14:21325903-21325903
6 RPGRIP1 NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter) SNV Pathogenic 566311 rs75459701 GRCh37: 14:21793477-21793477
GRCh38: 14:21325318-21325318
7 RPGRIP1 NC_000014.9:g.(?_21317696)_(21320177_?)del Deletion Pathogenic 832960 GRCh37: 14:21785855-21788336
GRCh38:
8 RPGRIP1 NM_020366.3(RPGRIP1):c.1892A>G (p.His631Arg) SNV Pathogenic 834237 GRCh37: 14:21792906-21792906
GRCh38: 14:21324747-21324747
9 RPGRIP1 NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) Deletion Pathogenic 99809 rs61751266 GRCh37: 14:21780617-21780617
GRCh38: 14:21312458-21312458
10 RPGRIP1 NM_020366.3(RPGRIP1):c.2465_2468dup (p.Ala824fs) Duplication Pathogenic 857229 GRCh37: 14:21794086-21794087
GRCh38: 14:21325927-21325928
11 RPGRIP1 NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) Duplication Pathogenic 560506 rs776289402 GRCh37: 14:21795785-21795786
GRCh38: 14:21327626-21327627
12 RPGRIP1 NM_020366.3(RPGRIP1):c.1792C>T (p.Arg598Ter) SNV Pathogenic 489168 rs775935766 GRCh37: 14:21792806-21792806
GRCh38: 14:21324647-21324647
13 RPGRIP1 NM_001377523.1(RPGRIP1):c.1465dup (p.Arg489fs) Duplication Pathogenic 964527 GRCh37: 14:21811340-21811341
GRCh38: 14:21343181-21343182
14 RPGRIP1 NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) Deletion Pathogenic 438160 rs776880045 GRCh37: 14:21780627-21780627
GRCh38: 14:21312468-21312468
15 RPGRIP1 NM_020366.3(RPGRIP1):c.1615_1624del (p.Glu539fs) Deletion Pathogenic 812424 rs1420750126 GRCh37: 14:21790015-21790024
GRCh38: 14:21321856-21321865
16 RPGRIP1 NM_020366.4(RPGRIP1):c.3859T>C (p.Ter1287Arg) SNV Pathogenic 1032837 GRCh37: 14:21819373-21819373
GRCh38: 14:21351214-21351214
17 RPGRIP1 NM_020366.3(RPGRIP1):c.673del (p.His225fs) Deletion Pathogenic 623224 rs752263228 GRCh37: 14:21771573-21771573
GRCh38: 14:21303414-21303414
18 RPGRIP1 NM_001377523.1(RPGRIP1):c.759del (p.Tyr255fs) Deletion Pathogenic 942879 GRCh37: 14:21795850-21795850
GRCh38: 14:21327691-21327691
19 RPGRIP1 NM_001377523.1(RPGRIP1):c.145C>T (p.Gln49Ter) SNV Pathogenic 962258 GRCh37: 14:21785922-21785922
GRCh38: 14:21317763-21317763
20 RPGRIP1 NC_000014.9:g.21302518del Deletion Pathogenic 963824 GRCh37: 14:21770674-21770674
GRCh38: 14:21302515-21302515
21 RPGRIP1 NM_001377523.1(RPGRIP1):c.393+1G>A SNV Likely pathogenic 964340 GRCh37: 14:21788337-21788337
GRCh38: 14:21320178-21320178
22 RPGRIP1 NM_001377523.1(RPGRIP1):c.689-2A>G SNV Likely pathogenic 964341 GRCh37: 14:21795780-21795780
GRCh38: 14:21327621-21327621
23 RPGRIP1 NC_000014.9:g.21300964A>G SNV Likely pathogenic 962259 GRCh37: 14:21769123-21769123
GRCh38: 14:21300964-21300964
24 RPGRIP1 NM_020366.3(RPGRIP1):c.800+1G>A SNV Likely pathogenic 803002 rs376500610 GRCh37: 14:21771703-21771703
GRCh38: 14:21303544-21303544
25 RPGRIP1 NM_020366.3(RPGRIP1):c.2367+1G>A SNV Likely pathogenic 850156 GRCh37: 14:21793543-21793543
GRCh38: 14:21325384-21325384
26 RPGRIP1 NC_000014.9:g.(?_21317696)_(21330387_?)dup Duplication Likely pathogenic 833414 GRCh37: 14:21785855-21798546
GRCh38:
27 RPGRIP1 NC_000014.9:g.(?_21320017)_(21334705_?)dup Duplication Likely pathogenic 831059 GRCh37: 14:21788176-21802864
GRCh38:
28 RPGRIP1 NM_020366.3(RPGRIP1):c.931-2A>G SNV Likely pathogenic 578332 rs374188857 GRCh37: 14:21779981-21779981
GRCh38: 14:21311822-21311822
29 RPGRIP1 NM_020366.3(RPGRIP1):c.2896delG Deletion Likely pathogenic 216991 rs863224913 GRCh37: 14:21796582-21796582
GRCh38: 14:21328423-21328423
30 RPGRIP1 NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) SNV Conflicting interpretations of pathogenicity 195356 rs200510462 GRCh37: 14:21762845-21762845
GRCh38: 14:21294686-21294686
31 RPGRIP1 NM_020366.3(RPGRIP1):c.1753C>T (p.Pro585Ser) SNV Conflicting interpretations of pathogenicity 283795 rs147586703 GRCh37: 14:21790154-21790154
GRCh38: 14:21321995-21321995
32 RPGRIP1 NM_020366.3(RPGRIP1):c.*81A>G SNV Uncertain significance 312804 rs182458550 GRCh37: 14:21819456-21819456
GRCh38: 14:21351297-21351297
33 RPGRIP1 NM_020366.3(RPGRIP1):c.640A>C (p.Lys214Gln) SNV Uncertain significance 312782 rs767213505 GRCh37: 14:21771542-21771542
GRCh38: 14:21303383-21303383
34 RPGRIP1 NM_020366.3(RPGRIP1):c.3766C>G (p.Leu1256Val) SNV Uncertain significance 534364 rs1405508889 GRCh37: 14:21819280-21819280
GRCh38: 14:21351121-21351121
35 RPGRIP1 NC_000014.9:g.(?_21327623)_(21330387_?)del Deletion Uncertain significance 832450 GRCh37: 14:21795782-21798546
GRCh38:
36 RPGRIP1 NM_020366.3(RPGRIP1):c.938G>A (p.Gly313Glu) SNV Uncertain significance 573467 rs755322533 GRCh37: 14:21779990-21779990
GRCh38: 14:21311831-21311831
37 RPGRIP1 NM_020366.3(RPGRIP1):c.3055A>T (p.Met1019Leu) SNV Uncertain significance 312797 rs886050400 GRCh37: 14:21796742-21796742
GRCh38: 14:21328583-21328583
38 RPGRIP1 NM_020366.3(RPGRIP1):c.1401A>G (p.Gln467=) SNV Uncertain significance 312789 rs184853466 GRCh37: 14:21788270-21788270
GRCh38: 14:21320111-21320111
39 RPGRIP1 NM_020366.3(RPGRIP1):c.2618A>G (p.His873Arg) SNV Uncertain significance 312794 rs573418252 GRCh37: 14:21794240-21794240
GRCh38: 14:21326081-21326081
40 RPGRIP1 NM_020366.3(RPGRIP1):c.2924T>C (p.Ile975Thr) SNV Uncertain significance 312796 rs886050399 GRCh37: 14:21796611-21796611
GRCh38: 14:21328452-21328452
41 RPGRIP1 NM_020366.3(RPGRIP1):c.218+13C>G SNV Uncertain significance 312780 rs200225522 GRCh37: 14:21762981-21762981
GRCh38: 14:21294822-21294822
42 RPGRIP1 NM_020366.3(RPGRIP1):c.912C>T (p.Tyr304=) SNV Uncertain significance 312784 rs568372341 GRCh37: 14:21778748-21778748
GRCh38: 14:21310589-21310589
43 RPGRIP1 NM_020366.3(RPGRIP1):c.1059G>C (p.Leu353Phe) SNV Uncertain significance 312785 rs756365691 GRCh37: 14:21780111-21780111
GRCh38: 14:21311952-21311952
44 RPGRIP1 NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) SNV Uncertain significance 312787 rs372186092 GRCh37: 14:21785900-21785900
GRCh38: 14:21317741-21317741
45 RPGRIP1 NM_020366.3(RPGRIP1):c.1200G>A (p.Glu400=) SNV Uncertain significance 312788 rs749098397 GRCh37: 14:21785903-21785903
GRCh38: 14:21317744-21317744
46 RPGRIP1 NM_020366.3(RPGRIP1):c.2331C>T (p.Thr777=) SNV Uncertain significance 312792 rs760801598 GRCh37: 14:21793506-21793506
GRCh38: 14:21325347-21325347
47 RPGRIP1 NM_020366.3(RPGRIP1):c.2334T>C (p.Asp778=) SNV Uncertain significance 312793 rs188318743 GRCh37: 14:21793509-21793509
GRCh38: 14:21325350-21325350
48 RPGRIP1 NM_020366.3(RPGRIP1):c.310G>C (p.Gly104Arg) SNV Uncertain significance 312781 rs377018856 GRCh37: 14:21769216-21769216
GRCh38: 14:21301057-21301057
49 RPGRIP1 NM_020366.3(RPGRIP1):c.3064C>T (p.Leu1022Phe) SNV Uncertain significance 312798 rs367899074 GRCh37: 14:21796751-21796751
GRCh38: 14:21328592-21328592
50 RPGRIP1 NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) SNV Uncertain significance 285108 rs186266220 GRCh37: 14:21770698-21770698
GRCh38: 14:21302539-21302539

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 13:

72
# Symbol AA change Variation ID SNP ID
1 RPGRIP1 p.Ala547Ser VAR_017831 rs10151259
2 RPGRIP1 p.Arg827Leu VAR_017834 rs28937883

Expression for Cone-Rod Dystrophy 13

Search GEO for disease gene expression data for Cone-Rod Dystrophy 13.

Pathways for Cone-Rod Dystrophy 13

GO Terms for Cone-Rod Dystrophy 13

Cellular components related to Cone-Rod Dystrophy 13 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.88 SPATA7 RPGRIP1L RPGR NPHP4 IQCB1
2 cell projection GO:0042995 9.83 SPATA7 RPGRIP1L RPGRIP1 RPGR NPHP4
3 centrosome GO:0005813 9.76 RPGRIP1L RPGR NPHP4 IQCB1
4 microtubule organizing center GO:0005815 9.71 RPGRIP1L RPGR NPHP4 IQCB1
5 axoneme GO:0005930 9.54 SPATA7 RPGRIP1L RPGRIP1
6 photoreceptor outer segment GO:0001750 9.5 SPATA7 RPGR IQCB1
7 non-motile cilium GO:0097730 9.49 RPGRIP1 NPHP4
8 ciliary basal body GO:0036064 9.46 SPATA7 RPGRIP1L RPGR NPHP4
9 ciliary transition zone GO:0035869 9.43 RPGRIP1L RPGRIP1 NPHP4
10 cilium GO:0005929 9.35 RPGRIP1L RPGRIP1 RPGR NPHP4 IQCB1
11 photoreceptor connecting cilium GO:0032391 9.02 SPATA7 RPGRIP1L RPGRIP1 NPHP4 IQCB1

Biological processes related to Cone-Rod Dystrophy 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.55 VSX1 SPATA7 RPGRIP1 RPGR NYX
2 cilium assembly GO:0060271 9.54 RPGRIP1L RPGR IQCB1
3 retina development in camera-type eye GO:0060041 9.43 RPGRIP1 NPHP4
4 ciliary basal body-plasma membrane docking GO:0097711 9.43 RPGRIP1L NPHP4 IQCB1
5 non-motile cilium assembly GO:1905515 9.4 RPGRIP1L RPGRIP1
6 retinal rod cell development GO:0046548 9.32 RPGRIP1L RPGRIP1
7 photoreceptor cell maintenance GO:0045494 9.13 SPATA7 NPHP4 IQCB1
8 visual perception GO:0007601 9.02 VSX1 SPATA7 RPGRIP1 RPGR NYX

Sources for Cone-Rod Dystrophy 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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