MCID: ABN003
MIFTS: 23

Abnormal Threshold of Rods

Categories: Eye diseases

Aliases & Classifications for Abnormal Threshold of Rods

MalaCards integrated aliases for Abnormal Threshold of Rods:

Name: Abnormal Threshold of Rods 12 15
Abnormal Dark Adaptation Curve 12 71

Classifications:



External Ids:

Disease Ontology 12 DOID:11874
ICD9CM 34 368.63
SNOMED-CT 67 50455002
ICD10 32 H53.61
UMLS 71 C0155019

Summaries for Abnormal Threshold of Rods

MalaCards based summary : Abnormal Threshold of Rods, also known as abnormal dark adaptation curve, is related to autosomal recessive congenital stationary night blindness and acquired night blindness. An important gene associated with Abnormal Threshold of Rods is GPR179 (G Protein-Coupled Receptor 179), and among its related pathways/superpathways are CREB Pathway and G-Beta Gamma Signaling. Affiliated tissues include eye and retina, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Abnormal Threshold of Rods

Diseases related to Abnormal Threshold of Rods via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive congenital stationary night blindness 10.1 GRM6 GNAT1
2 acquired night blindness 10.1 TRPM1 RGS9BP
3 oguchi disease 2 10.0 RGS9BP GRK1 CACNA2D4
4 night blindness, congenital stationary, type 1e 10.0 GPR179 CACNA1F
5 myasthenic syndrome, congenital, 3a, slow-channel 9.9 SAG GRK1
6 enhanced s-cone syndrome 9.9 RGS9BP GRK1 GNAT1
7 melanoma-associated retinopathy 9.9 TRPM1 SAG
8 night blindness, congenital stationary, autosomal dominant 1 9.9 GNAT1 CACNA1F
9 prolonged electroretinal response suppression 9.9 RGS9BP GRK1
10 cone-rod dystrophy 3 9.9 CACNA1F CABP4
11 night blindness, congenital stationary, type 1b 9.9 TRPM1 GRM6 GPR179
12 cone-rod dystrophy, x-linked, 3 9.9 CACNA2D4 CACNA1F CABP4
13 oguchi disease 1 9.9 SAG RGS9BP GRK1
14 delayed sleep phase disorder 9.8 OPN4 CABP4
15 autosomal dominant congenital stationary night blindness 9.8 PDE6B GNAT1
16 advanced sleep phase syndrome 9.5 OPN4 CABP4
17 retinoschisis 1, x-linked, juvenile 9.5 TRPM1 GRM6 CACNA1F CABP4
18 night blindness, congenital stationary, type 1c 9.3 TRPM1 GRM6 GPR179 CACNA1F CABP4
19 night blindness, congenital stationary, type 1a 9.1 GRM6 GRK1 GPR179 GNAT1 CACNA1F CABP4
20 cone-rod dystrophy 6 9.0 PDE6B GRK1 CACNA2D4 CACNA1F CABP4
21 myopia 8.8 TRPM1 PDE6B GRM6 GNAT1 CACNA1F
22 retinal degeneration 8.7 SAG PDE6B OPN4 GRK1 GNAT1
23 fundus albipunctatus 8.6 SAG RGS9BP PDE6B GRK1 GNAT1 CACNA1F
24 eye disease 8.6 SAG PDE6B OPN4 CACNA1F CABP4
25 cone-rod dystrophy 2 8.6 SAG PDE6B GRK1 CACNA2D4 CACNA1F CABP4
26 retinal disease 8.5 SAG PDE6B GRM6 GNAT1 CACNA1F CABP4
27 oguchi disease 8.5 SAG PDE6B GRM6 GRK1 GNAT1 CACNA1F
28 achromatopsia 8.3 RGS9BP PDE6B OPN4 GRK1 CACNA2D4 CACNA1F
29 leber congenital amaurosis 7.8 SAG RGS9BP PDE6B OPN4 GRM6 GRK1
30 night blindness 7.7 TRPM1 SAG PDE6B GRM6 GRK1 GPR179
31 fundus dystrophy 7.0 TRPM1 SAG RGS9BP PDE6B OPN4 GRM6
32 congenital stationary night blindness 6.8 TRPM1 SAG RGS9BP PDE6B OPN4 GRM6
33 retinitis pigmentosa 6.8 TRPM1 SAG RGS9BP PDE6B OPN4 GRM6

Graphical network of the top 20 diseases related to Abnormal Threshold of Rods:



Diseases related to Abnormal Threshold of Rods

Symptoms & Phenotypes for Abnormal Threshold of Rods

GenomeRNAi Phenotypes related to Abnormal Threshold of Rods according to GeneCards Suite gene sharing:

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.89 OPN4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.89 PDE6B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.89 CACNA1F GRK1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.89 CACNA1F
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.89 OPN4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.89 OPN4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.89 CACNA1F GNAT1 GRK1 OPN4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.89 GRK1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.89 GRK1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.89 OPN4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.89 OPN4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.89 GNAT1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.89 PDE6B
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-172 9.89 CACNA1F
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.89 PDE6B
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.89 OPN4
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.89 GNAT1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.89 GNAT1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.89 CACNA1F
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.89 PDE6B
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.89 GNAT1 CACNA2D4 PDE6B
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.89 GNAT1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.89 CACNA1F
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.89 CACNA2D4
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.89 PDE6B

MGI Mouse Phenotypes related to Abnormal Threshold of Rods:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 CABP4 CACNA1F GNAT1 GRK1 GRM6 OPN4
2 vision/eye MP:0005391 9.4 CABP4 CACNA1F CACNA2D4 GNAT1 GPR179 GRK1

Drugs & Therapeutics for Abnormal Threshold of Rods

Search Clinical Trials , NIH Clinical Center for Abnormal Threshold of Rods

Genetic Tests for Abnormal Threshold of Rods

Anatomical Context for Abnormal Threshold of Rods

MalaCards organs/tissues related to Abnormal Threshold of Rods:

40
Eye, Retina

Publications for Abnormal Threshold of Rods

Articles related to Abnormal Threshold of Rods:

# Title Authors PMID Year
1
Pigment changes of the retina in chronic progressive external ophthalmoplegia (CPEO). 61
211791 1978

Variations for Abnormal Threshold of Rods

Expression for Abnormal Threshold of Rods

Search GEO for disease gene expression data for Abnormal Threshold of Rods.

Pathways for Abnormal Threshold of Rods

Pathways related to Abnormal Threshold of Rods according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 TRPM1 GRM6 GNAT1 CACNA2D4 CACNA1F
2
Show member pathways
12.49 GRM6 GNAT1 CACNA2D4 CACNA1F
3
Show member pathways
11.88 SAG RGS9BP PDE6B GRK1 GNAT1
4
Show member pathways
11.55 SAG RGS9BP PDE6B GRK1 GNAT1
5 10.99 SAG PDE6B GRK1 GNAT1 CABP4

GO Terms for Abnormal Threshold of Rods

Cellular components related to Abnormal Threshold of Rods according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10 TRPM1 SAG RGS9BP PDE6B OPN4 GRM6
2 photoreceptor inner segment GO:0001917 9.37 SAG GNAT1
3 voltage-gated calcium channel complex GO:0005891 9.32 CACNA2D4 CACNA1F
4 photoreceptor disc membrane GO:0097381 9.26 PDE6B OPN4 GRK1 GNAT1
5 new growing cell tip GO:0035841 9.16 TRPM1 GRM6
6 photoreceptor outer segment GO:0001750 9.02 SAG RGS9BP GRK1 GNAT1 CACNA1F

Biological processes related to Abnormal Threshold of Rods according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.01 TRPM1 SAG PDE6B OPN4 GRM6 GRK1
2 G protein-coupled receptor signaling pathway GO:0007186 9.93 PDE6B OPN4 GRM6 GPR179 GNAT1
3 response to stimulus GO:0050896 9.86 TRPM1 RGS9BP PDE6B OPN4 GRM6 GRK1
4 calcium ion transmembrane transport GO:0070588 9.7 TRPM1 CACNA2D4 CACNA1F
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.62 SAG PDE6B GRK1 GNAT1
6 retina development in camera-type eye GO:0060041 9.61 PDE6B GRM6 GNAT1
7 cardiac conduction GO:0061337 9.55 CACNA2D4 CACNA1F
8 phototransduction GO:0007602 9.54 OPN4 GNAT1 CABP4
9 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.51 TRPM1 GRM6
10 cellular response to light stimulus GO:0071482 9.49 TRPM1 OPN4
11 detection of visible light GO:0009584 9.48 OPN4 GRM6
12 phototransduction, visible light GO:0007603 9.46 PDE6B GNAT1
13 rhodopsin mediated signaling pathway GO:0016056 9.46 SAG PDE6B GRK1 GNAT1
14 detection of light stimulus involved in visual perception GO:0050908 9.35 RGS9BP GRM6 GNAT1 CACNA2D4 CACNA1F
15 visual perception GO:0007601 9.32 TRPM1 RGS9BP PDE6B OPN4 GRM6 GRK1

Molecular functions related to Abnormal Threshold of Rods according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 8.96 CACNA2D4 CACNA1F
2 calcium channel activity GO:0005262 8.8 TRPM1 CACNA2D4 CACNA1F

Sources for Abnormal Threshold of Rods

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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