ACHM3
MCID: ACH021
MIFTS: 45

Achromatopsia 3 (ACHM3)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Achromatopsia 3

MalaCards integrated aliases for Achromatopsia 3:

Name: Achromatopsia 3 58 12 54 76 30 6 15 74
Pingelapese Blindness 58 12 54 76
Achm3 58 12 54 76
Total Colorblindness with Myopia 58 54 76
Achromatopsia with Myopia 58 54 76
Rod Monochromacy 1, Formerly; Rmch1, Formerly 58
Rod Monochromatism 1, Formerly 58
Rod Monochromacy 1, Formerly 58
Achromatopsia, Type 3 41
Rod Monochromatism 1 12
Rod Monochromacy 1 12
Achm1, Formerly 58
Rmch1, Formerly 58
Achromatopsia-3 13
Achm1 12
Rmch1 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
achromatopsia 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Achromatopsia 3

UniProtKB/Swiss-Prot : 76 Achromatopsia 3: An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia.

MalaCards based summary : Achromatopsia 3, also known as pingelapese blindness, is related to achromatopsia and stargardt disease 1, and has symptoms including photophobia An important gene associated with Achromatopsia 3 is CNGB3 (Cyclic Nucleotide Gated Channel Beta 3), and among its related pathways/superpathways are CREB Pathway and G-Beta Gamma Signaling. Affiliated tissues include retina and eye, and related phenotypes are cataract and photophobia

Disease Ontology : 12 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.

Description from OMIM: 262300

Related Diseases for Achromatopsia 3

Diseases in the Achromatopsia family:

Achromatopsia 2 Achromatopsia 3
Achromatopsia 4 Achromatopsia 7

Diseases related to Achromatopsia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 30.8 BACE1 CACNA1F CNGA3 CNGB3 GNAT2 NR2E3
2 stargardt disease 1 30.5 CNGB3 CRX GNAT2
3 nystagmus 1, congenital, x-linked 11.2
4 x-linked congenital stationary night blindness 10.3 CACNA1F NYX
5 oligocone trichromacy 10.3 CNGA3 CNGB3 GNAT2
6 achromatopsia 4 10.3 CNGA3 CNGB3 GNAT2
7 color vision deficiency 10.3 CNGA3 NR2E3
8 jalili syndrome 10.3 CNGA3 CNGB3 GNAT2
9 night blindness, congenital stationary, type 2a 10.3 CACNA1F NYX
10 color blindness 10.3 CNGA3 CNGB3 GNAT2
11 pathologic nystagmus 10.3 CNGA3 CNGB3 GNAT2
12 leber congenital amaurosis 1 10.2 GUCY2D TULP1
13 night blindness, congenital stationary, type 1e 10.2 CACNA1F NYX
14 cone-rod dystrophy 5 10.2 CNGB3 GUCY2D
15 cone-rod dystrophy 6 10.2 CNGA3 CNGB3 GNAT2 GUCY2D
16 retinitis pigmentosa 44 10.2 CNGA3 CNGB3
17 leber congenital amaurosis 12 10.2 GUCY2D RPE65
18 choroid disease 10.1 CNGB3 RPE65
19 night blindness 10.1 CACNA1F NYX RPE65
20 prolonged electroretinal response suppression 10.1 CRB1 CRX GUCY2D
21 aland island eye disease 10.1 CACNA1F NYX RPE65
22 enhanced s-cone syndrome 10.0 AIPL1 CNGA3 CRX NR2E3
23 stargardt disease 10.0 CNGB3 CRB1 GNAT2 RPE65
24 yemenite deaf-blind hypopigmentation syndrome 10.0 AIPL1 CRB1 GUCY2D RPE65
25 leber congenital amaurosis 4 9.9 AIPL1 CRX GUCY2D RPE65
26 achromatopsia 2 9.9 CNGA3 CNGB3 TRPV1
27 keratoconus 9.9 AIPL1 CRB1 GUCY2D RPE65
28 cone-rod dystrophy 8 9.9 CNGA3 CNGB3 CRX GNAT2 GUCY2D RPGRIP1
29 cone-rod dystrophy 9 9.9 CNGA3 CNGB3 CRX GNAT2 GUCY2D RPGRIP1
30 congenital stationary night blindness 9.9 AIPL1 CACNA1F CNGB3 NYX RPE65
31 retinoschisis 1, x-linked, juvenile 9.8 CNGB3 CRB1 CRX NYX RPE65
32 disease of mental health 9.6 BACE1 HTR2C TRPV1
33 ocular hyperemia 9.6 RPE65 TRPV1
34 leber congenital amaurosis 9 9.5 AIPL1 CRB1 CRX GUCY2D RPE65 RPGRIP1
35 overnutrition 9.5 AGRP MC4R TRPV1
36 acquired metabolic disease 9.4 BACE1 MC4R TRPV1
37 cone-rod dystrophy 2 9.4 AIPL1 CRX GNAT2 GUCY2D NR2E3 RPE65
38 retinal degeneration 9.3 AIPL1 CRB1 CRX GUCY2D NR2E3 RPE65
39 retinal disease 9.1 AIPL1 CACNA1F CNGB3 CRB1 CRX GUCY2D
40 leber congenital amaurosis 9.1 AIPL1 CNGA3 CNGB3 CRB1 CRX GUCY2D
41 fundus dystrophy 9.0 AIPL1 CNGA3 CNGB3 CRB1 CRX GNAT2
42 retinitis pigmentosa 8.9 AIPL1 CACNA1F CNGA3 CRB1 CRX GUCY2D

Graphical network of the top 20 diseases related to Achromatopsia 3:



Diseases related to Achromatopsia 3

Symptoms & Phenotypes for Achromatopsia 3

Human phenotypes related to Achromatopsia 3:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 photophobia 33 HP:0000613
3 dyschromatopsia 33 HP:0007641
4 severely reduced visual acuity 33 HP:0001141
5 horizontal pendular nystagmus 33 HP:0007811
6 monochromacy 33 HP:0007803
7 high myopia 33 HP:0011003
8 achromatopsia 33 HP:0011516

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract
photophobia
severe myopia
horizontal pendular nystagmus
decreased foveolar thickness
more

Clinical features from OMIM:

262300

UMLS symptoms related to Achromatopsia 3:


photophobia

GenomeRNAi Phenotypes related to Achromatopsia 3 according to GeneCards Suite gene sharing:

27 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.19 CACNA1F CNGA3 HTR2C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.19 CACNA1F CNGA3 CRX HTR2C RPGRIP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.19 HTR2C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.19 CNGA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.19 CACNA1F
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.19 HTR2C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.19 CRX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.19 RPGRIP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.19 CRX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.19 CRX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.19 RPGRIP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.19 CACNA1F
13 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.19 CACNA1F
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.19 RPGRIP1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.19 HTR2C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.19 CNGA3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.19 RPGRIP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.19 RPGRIP1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.19 CACNA1F
20 Increased shRNA abundance (Z-score > 2) GR00366-A-51 10.19 RPGRIP1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.19 CACNA1F CRX
22 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.19 HTR2C
23 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.19 CACNA1F
24 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.19 HTR2C
25 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.19 CRX
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.19 CRX RPGRIP1
27 no effect GR00402-S-1 9.9 AGRP AIPL1 BACE1 CACNA1F CNGA3 CNGB3

MGI Mouse Phenotypes related to Achromatopsia 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.11 AGRP AIPL1 BACE1 CACNA1F CNGA3 CNGB3
2 behavior/neurological MP:0005386 9.96 AGRP BACE1 CNGA3 CRHR1 CRX GUCY2D
3 vision/eye MP:0005391 9.47 AIPL1 CACNA1F CNGA3 CNGB3 CRB1 CRHR1
4 pigmentation MP:0001186 9.35 CRB1 CRX HTR2C RPE65 TULP1

Drugs & Therapeutics for Achromatopsia 3

Search Clinical Trials , NIH Clinical Center for Achromatopsia 3

Genetic Tests for Achromatopsia 3

Genetic tests related to Achromatopsia 3:

# Genetic test Affiliating Genes
1 Achromatopsia 3 30 CNGB3

Anatomical Context for Achromatopsia 3

MalaCards organs/tissues related to Achromatopsia 3:

42
Retina, Eye

Publications for Achromatopsia 3

Articles related to Achromatopsia 3:

# Title Authors Year
1
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. ( 17265047 )
2007
2
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. ( 15712225 )
2005
3
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. ( 12140185 )
2002
4
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. ( 12357335 )
2002
5
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. ( 10958649 )
2000
6
Genetic basis of total colourblindness among the Pingelapese islanders. ( 10888875 )
2000
7
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. ( 1347967 )
1992

Variations for Achromatopsia 3

UniProtKB/Swiss-Prot genetic disease variations for Achromatopsia 3:

76
# Symbol AA change Variation ID SNP ID
1 CNGB3 p.Ser435Phe VAR_018111 rs121918344
2 CNGB3 p.Lys148Glu VAR_047609 rs369138501
3 CNGB3 p.Ser156Phe VAR_047610 rs139207764
4 CNGB3 p.Pro309Leu VAR_047612
5 CNGB3 p.Phe525Asn VAR_047618
6 CNGB3 p.Gly558Cys VAR_047619 rs749413012
7 CNGB3 p.Leu595Phe VAR_047620

ClinVar genetic disease variations for Achromatopsia 3:

6 (show top 50) (show all 241)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGB3 CNGB3, 8-BP DEL, NT819 deletion Pathogenic
2 CNGB3 NM_019098.4(CNGB3): c.1304C> T (p.Ser435Phe) single nucleotide variant Pathogenic rs121918344 GRCh37 Chromosome 8, 87644996: 87644996
3 CNGB3 NM_019098.4(CNGB3): c.1304C> T (p.Ser435Phe) single nucleotide variant Pathogenic rs121918344 GRCh38 Chromosome 8, 86632768: 86632768
4 CNGB3 NM_019098.4(CNGB3): c.607C> T (p.Arg203Ter) single nucleotide variant Likely pathogenic rs267606739 GRCh37 Chromosome 8, 87680283: 87680283
5 CNGB3 NM_019098.4(CNGB3): c.607C> T (p.Arg203Ter) single nucleotide variant Likely pathogenic rs267606739 GRCh38 Chromosome 8, 86668055: 86668055
6 CNGB3 CNGB3, 1-BP INS, 492T insertion Pathogenic
7 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh37 Chromosome 8, 87656009: 87656009
8 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh38 Chromosome 8, 86643781: 86643781
9 CNGB3 NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35365413 GRCh37 Chromosome 8, 87641222: 87641222
10 CNGB3 NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35365413 GRCh38 Chromosome 8, 86628994: 86628994
11 CNGB3 NM_019098.4(CNGB3): c.1208G> A (p.Arg403Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147876778 GRCh37 Chromosome 8, 87645092: 87645092
12 CNGB3 NM_019098.4(CNGB3): c.1208G> A (p.Arg403Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147876778 GRCh38 Chromosome 8, 86632864: 86632864
13 CNGB3 NM_019098.4(CNGB3): c.1578+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372006750 GRCh38 Chromosome 8, 86625982: 86625982
14 CNGB3 NM_019098.4(CNGB3): c.1578+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372006750 GRCh37 Chromosome 8, 87638210: 87638210
15 CNGB3 NM_019098.4(CNGB3): c.1119G> A (p.Trp373Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204762 GRCh37 Chromosome 8, 87656038: 87656038
16 CNGB3 NM_019098.4(CNGB3): c.1119G> A (p.Trp373Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204762 GRCh38 Chromosome 8, 86643810: 86643810
17 CNGB3 NM_019098.4(CNGB3): c.1006G> T (p.Glu336Ter) single nucleotide variant Pathogenic/Likely pathogenic rs373862340 GRCh37 Chromosome 8, 87656899: 87656899
18 CNGB3 NM_019098.4(CNGB3): c.1006G> T (p.Glu336Ter) single nucleotide variant Pathogenic/Likely pathogenic rs373862340 GRCh38 Chromosome 8, 86644671: 86644671
19 CNGB3 NM_019098.4(CNGB3): c.991-3T> G single nucleotide variant Likely pathogenic rs773372519 GRCh37 Chromosome 8, 87656917: 87656917
20 CNGB3 NM_019098.4(CNGB3): c.991-3T> G single nucleotide variant Likely pathogenic rs773372519 GRCh38 Chromosome 8, 86644689: 86644689
21 CNGB3 NM_019098.4(CNGB3): c.646C> T (p.Arg216Ter) single nucleotide variant Likely pathogenic rs768345097 GRCh37 Chromosome 8, 87679359: 87679359
22 CNGB3 NM_019098.4(CNGB3): c.646C> T (p.Arg216Ter) single nucleotide variant Likely pathogenic rs768345097 GRCh38 Chromosome 8, 86667131: 86667131
23 CNGB3 NM_019098.4(CNGB3): c.644-1G> C single nucleotide variant Likely pathogenic rs201794629 GRCh37 Chromosome 8, 87679362: 87679362
24 CNGB3 NM_019098.4(CNGB3): c.644-1G> C single nucleotide variant Likely pathogenic rs201794629 GRCh38 Chromosome 8, 86667134: 86667134
25 CNGB3 NM_019098.4(CNGB3): c.391C> T (p.Gln131Ter) single nucleotide variant Likely pathogenic rs786204492 GRCh37 Chromosome 8, 87683274: 87683274
26 CNGB3 NM_019098.4(CNGB3): c.391C> T (p.Gln131Ter) single nucleotide variant Likely pathogenic rs786204492 GRCh38 Chromosome 8, 86671046: 86671046
27 CNGB3 NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh38 Chromosome 8, 86743516: 86743516
28 CNGB3 NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh37 Chromosome 8, 87755744: 87755744
29 CNGB3 NM_019098.4(CNGB3): c.1397T> C (p.Met466Thr) single nucleotide variant Benign rs35010099 GRCh37 Chromosome 8, 87641230: 87641230
30 CNGB3 NM_019098.4(CNGB3): c.1397T> C (p.Met466Thr) single nucleotide variant Benign rs35010099 GRCh38 Chromosome 8, 86629002: 86629002
31 CNGB3 NM_019098.4(CNGB3): c.886_896delACTTCTACAAAinsT (p.Thr296Tyrfs) indel Likely pathogenic rs886063161 GRCh37 Chromosome 8, 87666247: 87666257
32 CNGB3 NM_019098.4(CNGB3): c.886_896delACTTCTACAAAinsT (p.Thr296Tyrfs) indel Likely pathogenic rs886063161 GRCh38 Chromosome 8, 86654019: 86654029
33 CNGB3 NM_019098.4(CNGB3): c.1937delT (p.Leu646Terfs) deletion Likely pathogenic rs745557293 GRCh38 Chromosome 8, 86578855: 86578855
34 CNGB3 NM_019098.4(CNGB3): c.1937delT (p.Leu646Terfs) deletion Likely pathogenic rs745557293 GRCh37 Chromosome 8, 87591083: 87591083
35 CNGB3 NM_019098.4(CNGB3): c.1929-2A> G single nucleotide variant Likely pathogenic rs1057517388 GRCh38 Chromosome 8, 86578865: 86578865
36 CNGB3 NM_019098.4(CNGB3): c.1929-2A> G single nucleotide variant Likely pathogenic rs1057517388 GRCh37 Chromosome 8, 87591093: 87591093
37 CNGB3 NM_019098.4(CNGB3): c.1928+2T> C single nucleotide variant Likely pathogenic rs1057517454 GRCh38 Chromosome 8, 86579104: 86579104
38 CNGB3 NM_019098.4(CNGB3): c.1928+2T> C single nucleotide variant Likely pathogenic rs1057517454 GRCh37 Chromosome 8, 87591332: 87591332
39 CNGB3 NM_019098.4(CNGB3): c.1908delG (p.Ile637Serfs) deletion Likely pathogenic rs1057516571 GRCh38 Chromosome 8, 86579126: 86579126
40 CNGB3 NM_019098.4(CNGB3): c.1908delG (p.Ile637Serfs) deletion Likely pathogenic rs1057516571 GRCh37 Chromosome 8, 87591354: 87591354
41 CNGB3 NM_019098.4(CNGB3): c.1579-1G> A single nucleotide variant Likely pathogenic rs1057516504 GRCh38 Chromosome 8, 86611672: 86611672
42 CNGB3 NM_019098.4(CNGB3): c.1579-1G> A single nucleotide variant Likely pathogenic rs1057516504 GRCh37 Chromosome 8, 87623900: 87623900
43 CNGB3 NM_019098.4(CNGB3): c.1480+1G> A single nucleotide variant Likely pathogenic rs1057516825 GRCh38 Chromosome 8, 86628918: 86628918
44 CNGB3 NM_019098.4(CNGB3): c.1480+1G> A single nucleotide variant Likely pathogenic rs1057516825 GRCh37 Chromosome 8, 87641146: 87641146
45 CNGB3 NM_019098.4(CNGB3): c.1366delC (p.Arg456Alafs) deletion Likely pathogenic rs1057516878 GRCh37 Chromosome 8, 87641261: 87641261
46 CNGB3 NM_019098.4(CNGB3): c.1366delC (p.Arg456Alafs) deletion Likely pathogenic rs1057516878 GRCh38 Chromosome 8, 86629033: 86629033
47 CNGB3 NM_019098.4(CNGB3): c.1260delT (p.Ile420Metfs) deletion Likely pathogenic rs1057516866 GRCh38 Chromosome 8, 86632812: 86632812
48 CNGB3 NM_019098.4(CNGB3): c.1260delT (p.Ile420Metfs) deletion Likely pathogenic rs1057516866 GRCh37 Chromosome 8, 87645040: 87645040
49 CNGB3 NM_019098.4(CNGB3): c.1179-2A> T single nucleotide variant Likely pathogenic rs1057517167 GRCh37 Chromosome 8, 87645123: 87645123
50 CNGB3 NM_019098.4(CNGB3): c.1179-2A> T single nucleotide variant Likely pathogenic rs1057517167 GRCh38 Chromosome 8, 86632895: 86632895

Expression for Achromatopsia 3

Search GEO for disease gene expression data for Achromatopsia 3.

Pathways for Achromatopsia 3

GO Terms for Achromatopsia 3

Cellular components related to Achromatopsia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.65 AGRP BACE1 CACNA1F CNGA3 TRPV1
2 photoreceptor outer segment GO:0001750 9.26 CACNA1F CNGB3 GNAT2 TULP1
3 transmembrane transporter complex GO:1902495 9.16 CNGA3 CNGB3
4 photoreceptor inner segment GO:0001917 8.92 AIPL1 CRB1 GNAT2 TULP1
5 plasma membrane GO:0005886 10.1 BACE1 CACNA1F CNGA3 CRB1 CRHR1 GNAT2

Biological processes related to Achromatopsia 3 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.73 AIPL1 CACNA1F CNGA3 CNGB3 CRX GNAT2
2 circadian rhythm GO:0007623 9.67 AGRP CRX RPE65
3 retina development in camera-type eye GO:0060041 9.62 NR2E3 RPE65 RPGRIP1 TULP1
4 retina homeostasis GO:0001895 9.58 AIPL1 RPE65 TULP1
5 eye photoreceptor cell development GO:0042462 9.56 CRB1 NR2E3 RPGRIP1 TULP1
6 feeding behavior GO:0007631 9.54 AGRP HTR2C MC4R
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.51 AIPL1 GUCY2D
8 regulation of feeding behavior GO:0060259 9.48 AGRP MC4R
9 detection of light stimulus involved in visual perception GO:0050908 9.46 CACNA1F GNAT2 RPE65 TULP1
10 diet induced thermogenesis GO:0002024 9.43 MC4R TRPV1
11 visual perception GO:0007601 9.4 AIPL1 CACNA1F CNGA3 CNGB3 CRX GNAT2
12 signal transduction GO:0007165 10.06 CNGA3 CNGB3 CRHR1 GNAT2 GUCY2D HTR2C

Molecular functions related to Achromatopsia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.43 CACNA1F CNGA3 TRPV1
2 cGMP binding GO:0030553 9.16 CNGA3 CNGB3
3 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGA3 CNGB3
4 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGA3 CNGB3

Sources for Achromatopsia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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