CORD16
MCID: CNR014
MIFTS: 42

Cone-Rod Dystrophy 16 (CORD16)

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

Aliases & Classifications for Cone-Rod Dystrophy 16

MalaCards integrated aliases for Cone-Rod Dystrophy 16:

Name: Cone-Rod Dystrophy 16 57 12 72 29 13 6 15 70
Retinitis Pigmentosa 64 57 72 29 6 70
Retinal Dystrophy with Early Macular Involvement 57 12 72 6
Cord16 57 12 72
Rp64 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
cone-rod dystrophy 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111022
OMIM® 57 614500
OMIM Phenotypic Series 57 PS120970 PS268000
UMLS 70 C3281045 C3281046

Summaries for Cone-Rod Dystrophy 16

UniProtKB/Swiss-Prot : 72 Cone-rod dystrophy 16: 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.
Retinitis pigmentosa 64: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Cone-Rod Dystrophy 16, also known as retinitis pigmentosa 64, is related to cone-rod dystrophy 2 and fundus dystrophy. An important gene associated with Cone-Rod Dystrophy 16 is C8orf37 (Chromosome 8 Open Reading Frame 37). Affiliated tissues include bone and retina, and related phenotypes are optic disc pallor and attenuation of retinal blood vessels

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.

OMIM® : 57 Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012). (614500) (Updated 05-Apr-2021)

Related Diseases for Cone-Rod Dystrophy 16

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 28.0 TTLL5 TMEM231 RP1L1 RAB28 POC1B PCARE
2 fundus dystrophy 27.5 TTLL5 TTLL10 TMEM231 RP1L1 RAB28 POC1B
3 cone-rod dystrophy 21 11.6
4 bardet-biedl syndrome 21 10.4 C8orf37-AS1 C8orf37
5 chronic interstitial cystitis 10.3 FAM161A C8orf37
6 retinitis pigmentosa 60 10.3 IFT140 C8orf37
7 retinitis pigmentosa 67 10.3 PCARE C8orf37
8 retinal ciliopathy 10.3 POC1B IFT140
9 orofaciodigital syndrome iii 10.3 TMEM231 IFT140
10 retinitis pigmentosa 71 10.2 PCARE C8orf37
11 orofaciodigital syndrome ix 10.2 POC1B DZANK1 CCDC120
12 seckel syndrome 7 10.2 POC1B DZANK1 CCDC120
13 joubert syndrome 23 10.2 DZANK1 CCDC120
14 oguchi disease 2 10.2 RAB28 CACNA2D4
15 inherited retinal disorder 10.2
16 cone-rod dystrophy 20 10.1 POC1B DZANK1 CCDC120 C8orf37
17 joubert syndrome 14 10.1 TMEM231 B9D1
18 retinitis pigmentosa 29 10.1 LCA5 FAM161A
19 joubert syndrome 24 10.1 TMEM231 B9D1
20 ciliopathy 10.1 TMEM231 IFT81 IFT140
21 occult macular dystrophy 10.1 RP1L1 PCARE
22 meckel syndrome, type 7 10.1 TMEM231 B9D1
23 joubert syndrome 4 10.1 DZANK1 CCDC120 B9D1
24 retinitis pigmentosa 39 10.1 RAB28 CACNA2D4
25 joubert syndrome 3 10.1 DZANK1 CCDC120 B9D1
26 cone-rod dystrophy 18 10.1 TTLL5 TTLL10 RAB28 POC1B CEP78
27 retinitis pigmentosa 74 10.1 RP1L1 PCARE FAM161A C8orf37
28 retinitis pigmentosa 55 10.1 RP1L1 PCARE FAM161A C8orf37
29 retinitis pigmentosa 31 10.0 RP1L1 PCARE FAM161A C8orf37
30 meckel syndrome, type 2 10.0 TMEM231 B9D1
31 meckel syndrome, type 5 10.0 TMEM231 B9D1
32 polycystic kidney disease 4 with or without polycystic liver disease 10.0 TMEM231 IFT140 B9D1
33 meckel syndrome, type 3 9.9 TMEM231 B9D1
34 achromatopsia 9.9 TTLL5 TTLL10 RAB28 PCARE CACNA2D4
35 short-rib thoracic dysplasia 1 with or without polydactyly 9.9 TMEM231 IFT81 IFT140 B9D1
36 retinitis pigmentosa 62 9.9 RP1L1 PCARE IFT140 FAM161A C8orf37
37 retinitis pigmentosa 51 9.9 RP1L1 PCARE IFT140 FAM161A C8orf37
38 retinal degeneration 9.9 PCARE IFT81 IFT140 FAM161A CEP78
39 asphyxiating thoracic dystrophy 9.9 TMEM231 IFT81 IFT140 B9D1
40 stargardt disease 9.9 RP1L1 PCARE LCA5 FAM161A
41 meckel syndrome, type 1 9.9 TMEM231 IFT81 IFT140 B9D1
42 meckel syndrome, type 4 9.8 TMEM231 B9D1
43 retinitis pigmentosa 28 9.8 RAB28 POC1B PCARE LCA5 FAM161A C8orf37
44 usher syndrome 9.7 RP1L1 PCARE LCA5 FAM161A CEP78
45 cone dystrophy 9.7 TTLL5 RP1L1 POC1B LCA5 CACNA2D4
46 nephronophthisis 9.6 TMEM231 LCA5 IFT81 IFT140 B9D1
47 senior-loken syndrome 1 9.5 TTLL5 TMEM231 POC1B LCA5 IFT140 C8orf37
48 retinitis pigmentosa 54 9.4 TMEM231 RP1L1 POC1B PCARE IFT140 FAM161A
49 bardet-biedl syndrome 9.4 TMEM231 PCARE LCA5 IFT81 IFT140 C8orf37-AS1
50 leber plus disease 9.1 TMEM231 RP1L1 RAB28 POC1B PCARE LCA5

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 16:



Diseases related to Cone-Rod Dystrophy 16

Symptoms & Phenotypes for Cone-Rod Dystrophy 16

Human phenotypes related to Cone-Rod Dystrophy 16:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 31 very rare (1%) HP:0000543
2 attenuation of retinal blood vessels 31 very rare (1%) HP:0007843
3 postaxial polydactyly 31 very rare (1%) HP:0100259
4 bone spicule pigmentation of the retina 31 very rare (1%) HP:0007737
5 cataract 31 HP:0000518
6 photophobia 31 HP:0000613
7 progressive visual loss 31 HP:0000529
8 reduced visual acuity 31 HP:0007663
9 nyctalopia 31 HP:0000662
10 rod-cone dystrophy 31 HP:0000510
11 cone/cone-rod dystrophy 31 HP:0000548
12 macular atrophy 31 HP:0007401
13 beaten bronze macular sheen 31 HP:0025147

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
macular atrophy
cataracts
photophobia (in some patients)
night blindness (in some patients)
attenuation of retinal vessels
more
Skeletal Feet:
postaxial polydactyly (in some patients)

Skeletal Hands:
postaxial polydactyly (in some patients)

Clinical features from OMIM®:

614500 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 B9D1 C8orf37 FAM161A IFT140 LCA5 PCARE
2 vision/eye MP:0005391 9.44 B9D1 C8orf37 CACNA2D4 DZANK1 FAM161A IFT140

Drugs & Therapeutics for Cone-Rod Dystrophy 16

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 16

Genetic Tests for Cone-Rod Dystrophy 16

Genetic tests related to Cone-Rod Dystrophy 16:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 16 29 C8orf37
2 Retinitis Pigmentosa 64 29

Anatomical Context for Cone-Rod Dystrophy 16

MalaCards organs/tissues related to Cone-Rod Dystrophy 16:

40
Bone, Retina

Publications for Cone-Rod Dystrophy 16

Articles related to Cone-Rod Dystrophy 16:

# Title Authors PMID Year
1
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. 57 6
26865426 2016
2
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. 57 6
25802487 2015
3
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. 57 6
22177090 2012
4
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. 61 6
25983245 2015
5
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. 6
26854863 2016
6
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). 6
27008867 2016
7
Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia. 57
25113443 2016

Variations for Cone-Rod Dystrophy 16

ClinVar genetic disease variations for Cone-Rod Dystrophy 16:

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C8orf37 NM_177965.4(C8orf37):c.497T>A (p.Leu166Ter) SNV Pathogenic 31192 rs1064792852 GRCh37: 8:96259972-96259972
GRCh38: 8:95247744-95247744
2 C8orf37 NM_177965.4(C8orf37):c.244-2A>C SNV Pathogenic 417787 rs1060505042 GRCh37: 8:96272762-96272762
GRCh38: 8:95260534-95260534
3 C8orf37 NM_177965.4(C8orf37):c.555G>A (p.Trp185Ter) SNV Pathogenic 417788 rs748014296 GRCh37: 8:96259914-96259914
GRCh38: 8:95247686-95247686
4 C8orf37 NM_177965.4(C8orf37):c.156-2A>G SNV Pathogenic 31193 rs1064792853 GRCh37: 8:96276004-96276004
GRCh38: 8:95263776-95263776
5 C8orf37 NM_177965.4(C8orf37):c.529C>T (p.Arg177Trp) SNV Pathogenic 31194 rs387907136 GRCh37: 8:96259940-96259940
GRCh38: 8:95247712-95247712
6 C8orf37 NM_177965.4(C8orf37):c.545A>G (p.Gln182Arg) SNV Pathogenic 31195 rs387907137 GRCh37: 8:96259924-96259924
GRCh38: 8:95247696-95247696
7 DRAM2 NM_001349886.1(DRAM2):c.-19del Deletion Pathogenic 192233 rs746559651 GRCh37: 1:111668908-111668908
GRCh38: 1:111126286-111126286
8 DRAM2 NM_178454.5(DRAM2):c.494G>A (p.Trp165Ter) SNV Pathogenic 192239 rs201422368 GRCh37: 1:111663161-111663161
GRCh38: 1:111120539-111120539
9 DRAM2 NM_178454.5(DRAM2):c.131G>A (p.Ser44Asn) SNV Pathogenic 192238 rs786205665 GRCh37: 1:111674046-111674046
GRCh38: 1:111131424-111131424
10 DRAM2 NM_001349886.1(DRAM2):c.-98_-96GCT[1] Microsatellite Pathogenic 192234 rs786205661 GRCh37: 1:111674111-111674113
GRCh38: 1:111131489-111131491
11 DRAM2 NM_178454.5(DRAM2):c.362A>T (p.His121Leu) SNV Pathogenic 192237 rs786205664 GRCh37: 1:111663293-111663293
GRCh38: 1:111120671-111120671
12 C8orf37-AS1 , C8orf37 NM_177965.4(C8orf37):c.155+2T>C SNV Pathogenic 417790 rs1085307121 GRCh37: 8:96281261-96281261
GRCh38: 8:95269033-95269033
13 C8orf37 NM_177965.4(C8orf37):c.363del (p.Asn121fs) Deletion Pathogenic 930729 GRCh37: 8:96272079-96272079
GRCh38: 8:95259851-95259851
14 DRAM2 NM_178454.5(DRAM2):c.568G>T (p.Glu190Ter) SNV Likely pathogenic 369954 rs1057516195 GRCh37: 1:111662531-111662531
GRCh38: 1:111119909-111119909
15 C8orf37 NM_177965.4(C8orf37):c.528A>G (p.Thr176=) SNV Conflicting interpretations of pathogenicity 363999 rs143748636 GRCh37: 8:96259941-96259941
GRCh38: 8:95247713-95247713
16 C8orf37 NM_177965.4(C8orf37):c.269A>G (p.Asn90Ser) SNV Uncertain significance 522286 rs199731969 GRCh37: 8:96272735-96272735
GRCh38: 8:95260507-95260507
17 C8orf37-AS1 , C8orf37 NM_177965.4(C8orf37):c.94G>A (p.Gly32Ser) SNV Uncertain significance 802425 rs779716988 GRCh37: 8:96281324-96281324
GRCh38: 8:95269096-95269096
18 C8orf37 NM_177965.4(C8orf37):c.*2617G>T SNV Uncertain significance 363979 rs141942063 GRCh37: 8:96257228-96257228
GRCh38: 8:95245000-95245000
19 C8orf37 NM_177965.4(C8orf37):c.*2212C>G SNV Uncertain significance 912348 GRCh37: 8:96257633-96257633
GRCh38: 8:95245405-95245405
20 C8orf37 NM_177965.4(C8orf37):c.*944A>C SNV Uncertain significance 363995 rs886063194 GRCh37: 8:96258901-96258901
GRCh38: 8:95246673-95246673
21 C8orf37 NM_177965.4(C8orf37):c.*383C>T SNV Uncertain significance 363998 rs189171642 GRCh37: 8:96259462-96259462
GRCh38: 8:95247234-95247234
22 C8orf37 NM_177965.4(C8orf37):c.*406A>T SNV Uncertain significance 363997 rs530747662 GRCh37: 8:96259439-96259439
GRCh38: 8:95247211-95247211
23 C8orf37 NM_177965.4(C8orf37):c.*2549C>A SNV Uncertain significance 363980 rs745781812 GRCh37: 8:96257296-96257296
GRCh38: 8:95245068-95245068
24 C8orf37 NM_177965.4(C8orf37):c.*2017C>G SNV Uncertain significance 363986 rs550269782 GRCh37: 8:96257828-96257828
GRCh38: 8:95245600-95245600
25 C8orf37-AS1 , C8orf37 NM_177965.4(C8orf37):c.-5T>C SNV Uncertain significance 364003 rs886063195 GRCh37: 8:96281422-96281422
GRCh38: 8:95269194-95269194
26 C8orf37 NM_177965.4(C8orf37):c.*965C>G SNV Uncertain significance 363994 rs886063193 GRCh37: 8:96258880-96258880
GRCh38: 8:95246652-95246652
27 C8orf37 NM_177965.4(C8orf37):c.*1675G>T SNV Uncertain significance 363990 rs886063192 GRCh37: 8:96258170-96258170
GRCh38: 8:95245942-95245942
28 C8orf37 NM_177965.4(C8orf37):c.*2102G>A SNV Uncertain significance 363985 rs184350873 GRCh37: 8:96257743-96257743
GRCh38: 8:95245515-95245515
29 C8orf37 NM_177965.4(C8orf37):c.*408G>A SNV Uncertain significance 363996 rs561848397 GRCh37: 8:96259437-96259437
GRCh38: 8:95247209-95247209
30 C8orf37 NM_177965.4(C8orf37):c.*1870T>A SNV Uncertain significance 363988 rs767822765 GRCh37: 8:96257975-96257975
GRCh38: 8:95245747-95245747
31 C8orf37 NM_177965.4(C8orf37):c.*1629T>G SNV Uncertain significance 363991 rs532315210 GRCh37: 8:96258216-96258216
GRCh38: 8:95245988-95245988
32 C8orf37 NM_177965.4(C8orf37):c.*1687T>A SNV Uncertain significance 363989 rs886063191 GRCh37: 8:96258158-96258158
GRCh38: 8:95245930-95245930
33 C8orf37 NM_177965.4(C8orf37):c.*863C>T SNV Uncertain significance 915150 GRCh37: 8:96258982-96258982
GRCh38: 8:95246754-95246754
34 C8orf37 NM_177965.4(C8orf37):c.*1628A>T SNV Uncertain significance 912406 GRCh37: 8:96258217-96258217
GRCh38: 8:95245989-95245989
35 C8orf37 NM_177965.4(C8orf37):c.*1607T>C SNV Uncertain significance 912407 GRCh37: 8:96258238-96258238
GRCh38: 8:95246010-95246010
36 C8orf37 NM_177965.4(C8orf37):c.*336G>A SNV Uncertain significance 912446 GRCh37: 8:96259509-96259509
GRCh38: 8:95247281-95247281
37 C8orf37-AS1 , C8orf37 NM_177965.4(C8orf37):c.15G>A (p.Leu5=) SNV Uncertain significance 912480 GRCh37: 8:96281403-96281403
GRCh38: 8:95269175-95269175
38 C8orf37 NM_177965.4(C8orf37):c.*2129A>G SNV Uncertain significance 913481 GRCh37: 8:96257716-96257716
GRCh38: 8:95245488-95245488
39 C8orf37 NM_177965.4(C8orf37):c.*1474G>A SNV Uncertain significance 913524 GRCh37: 8:96258371-96258371
GRCh38: 8:95246143-95246143
40 C8orf37 NM_177965.4(C8orf37):c.*1151A>G SNV Uncertain significance 913525 GRCh37: 8:96258694-96258694
GRCh38: 8:95246466-95246466
41 C8orf37 NM_177965.4(C8orf37):c.*249T>C SNV Uncertain significance 913561 GRCh37: 8:96259596-96259596
GRCh38: 8:95247368-95247368
42 C8orf37 NM_177965.4(C8orf37):c.*155G>T SNV Uncertain significance 913562 GRCh37: 8:96259690-96259690
GRCh38: 8:95247462-95247462
43 C8orf37 NM_177965.4(C8orf37):c.598C>A (p.Leu200Ile) SNV Uncertain significance 913563 GRCh37: 8:96259871-96259871
GRCh38: 8:95247643-95247643
44 C8orf37 NM_177965.4(C8orf37):c.*2009C>T SNV Uncertain significance 913860 GRCh37: 8:96257836-96257836
GRCh38: 8:95245608-95245608
45 C8orf37 NM_177965.4(C8orf37):c.*1904G>A SNV Uncertain significance 913861 GRCh37: 8:96257941-96257941
GRCh38: 8:95245713-95245713
46 C8orf37 NM_177965.4(C8orf37):c.*1115G>C SNV Uncertain significance 913905 GRCh37: 8:96258730-96258730
GRCh38: 8:95246502-95246502
47 C8orf37 NM_177965.4(C8orf37):c.*1057C>T SNV Uncertain significance 913906 GRCh37: 8:96258788-96258788
GRCh38: 8:95246560-95246560
48 C8orf37 NM_177965.4(C8orf37):c.498A>G (p.Leu166=) SNV Uncertain significance 913949 GRCh37: 8:96259971-96259971
GRCh38: 8:95247743-95247743
49 C8orf37 NM_177965.4(C8orf37):c.*2498A>G SNV Uncertain significance 915068 GRCh37: 8:96257347-96257347
GRCh38: 8:95245119-95245119
50 C8orf37 NM_177965.4(C8orf37):c.*2492C>T SNV Uncertain significance 915069 GRCh37: 8:96257353-96257353
GRCh38: 8:95245125-95245125

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 16:

72
# Symbol AA change Variation ID SNP ID
1 C8orf37 p.Arg177Trp VAR_067305 rs387907136
2 C8orf37 p.Gln182Arg VAR_067306 rs387907137

Expression for Cone-Rod Dystrophy 16

Search GEO for disease gene expression data for Cone-Rod Dystrophy 16.

Pathways for Cone-Rod Dystrophy 16

GO Terms for Cone-Rod Dystrophy 16

Cellular components related to Cone-Rod Dystrophy 16 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10 TTLL9 TTLL5 RP1L1 RAB28 POC1B LCA5
2 centrosome GO:0005813 9.91 TTLL5 POC1B IFT81 IFT140 FAM161A CEP78
3 cilium GO:0005929 9.85 TTLL9 TTLL5 TMEM231 RP1L1 PCARE LCA5
4 microtubule organizing center GO:0005815 9.81 POC1B LCA5 IFT140 CEP78
5 cell projection GO:0042995 9.8 TTLL9 TTLL5 TMEM231 RP1L1 RAB28 POC1B
6 centriole GO:0005814 9.73 POC1B IFT140 CEP78 CCDC120
7 photoreceptor inner segment GO:0001917 9.71 PCARE FAM161A DRAM2 C8orf37
8 axoneme GO:0005930 9.67 RP1L1 LCA5 IFT140
9 photoreceptor outer segment GO:0001750 9.63 RP1L1 PCARE IFT140
10 photoreceptor connecting cilium GO:0032391 9.62 RP1L1 LCA5 IFT140 FAM161A
11 MKS complex GO:0036038 9.48 TMEM231 B9D1
12 ciliary basal body GO:0036064 9.28 TTLL9 RAB28 POC1B LCA5 IFT81 IFT140

Biological processes related to Cone-Rod Dystrophy 16 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.67 RP1L1 PCARE FAM161A DRAM2
2 cellular protein modification process GO:0006464 9.65 TTLL9 TTLL5 TTLL10
3 vasculature development GO:0001944 9.52 TMEM231 B9D1
4 cilium organization GO:0044782 9.51 FAM161A CEP78
5 embryonic digit morphogenesis GO:0042733 9.5 TMEM231 IFT140 B9D1
6 regulation of smoothened signaling pathway GO:0008589 9.49 IFT81 IFT140
7 photoreceptor cell outer segment organization GO:0035845 9.46 PCARE IFT140
8 protein polyglutamylation GO:0018095 9.43 TTLL9 TTLL5
9 photoreceptor cell maintenance GO:0045494 9.43 RP1L1 LCA5 DRAM2
10 cilium assembly GO:0060271 9.43 TMEM231 POC1B IFT81 IFT140 FAM161A B9D1
11 neuroepithelial cell differentiation GO:0060563 9.4 TMEM231 B9D1
12 intraciliary transport GO:0042073 9.33 LCA5 IFT81 IFT140
13 cell projection organization GO:0030030 9.23 TMEM231 RP1L1 POC1B IFT81 IFT140 FAM161A

Molecular functions related to Cone-Rod Dystrophy 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin-glutamic acid ligase activity GO:0070740 8.96 TTLL9 TTLL5
2 tubulin binding GO:0015631 8.8 TTLL9 TTLL5 IFT81

Sources for Cone-Rod Dystrophy 16

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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