MCID: DGN006
MIFTS: 20

Digenic Disease

Categories: Genetic diseases

Aliases & Classifications for Digenic Disease

MalaCards integrated aliases for Digenic Disease:

Name: Digenic Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080578

Summaries for Digenic Disease

Disease Ontology : 12 A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.

MalaCards based summary : Digenic Disease is related to retinal degeneration and retinitis pigmentosa. An important gene associated with Digenic Disease is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Signaling by Wnt and Metabolism of fat-soluble vitamins. Related phenotypes are nervous system and pigmentation

Related Diseases for Digenic Disease

Graphical network of the top 20 diseases related to Digenic Disease:



Diseases related to Digenic Disease

Symptoms & Phenotypes for Digenic Disease

MGI Mouse Phenotypes related to Digenic Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.76 CRX GNB1 NRL PDE6A PDE6B PDE6G
2 pigmentation MP:0001186 9.26 CRX NRL PDE6B PRPH2
3 vision/eye MP:0005391 9.1 CRX NRL PDE6A PDE6B PDE6G PRPH2

Drugs & Therapeutics for Digenic Disease

Search Clinical Trials , NIH Clinical Center for Digenic Disease

Genetic Tests for Digenic Disease

Anatomical Context for Digenic Disease

Publications for Digenic Disease

Articles related to Digenic Disease:

(show all 13)
# Title Authors PMID Year
1
Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations. 38
30661074 2019
2
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. 38
28881388 2018
3
Understanding mutational effects in digenic diseases. 38
28911095 2017
4
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A. 38
27148587 2016
5
Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome. 38
26610373 2016
6
Facioscapulohumeral muscular dystrophy. 38
24882751 2015
7
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. 38
18715141 2009
8
Clinical manifestations of impaired GnRH neuron development and function. 38
18253056 2008
9
Evidence of oligogenic inheritance in nephronophthisis. 38
17855640 2007
10
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease. 38
17356515 2007
11
Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1. 38
15956339 2005
12
Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. 38
8943002 1996
13
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers. 38
8834251 1996

Variations for Digenic Disease

Expression for Digenic Disease

Search GEO for disease gene expression data for Digenic Disease.

Pathways for Digenic Disease

GO Terms for Digenic Disease

Cellular components related to Digenic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.92 PDE6G PDE6B PDE6A GNB1
2 photoreceptor outer segment GO:0001750 8.65 PRPH2

Biological processes related to Digenic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.72 PDE6G PDE6B PDE6A NRL CRX
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.43 PDE6G PDE6B PDE6A
3 regulation of cytosolic calcium ion concentration GO:0051480 9.37 PDE6B PDE6A
4 rhodopsin mediated signaling pathway GO:0016056 9.33 PDE6B PDE6A GNB1
5 retina development in camera-type eye GO:0060041 9.26 PRPH2 PDE6B PDE6A GNB1
6 visual perception GO:0007601 9.1 PRPH2 PDE6G PDE6B PDE6A NRL CRX

Molecular functions related to Digenic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoric diester hydrolase activity GO:0008081 9.32 PDE6B PDE6A
2 spectrin binding GO:0030507 9.26 PDE6G GNB1
3 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.16 PDE6G PDE6B
4 leucine zipper domain binding GO:0043522 8.96 NRL CRX
5 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.8 PDE6G PDE6B PDE6A

Sources for Digenic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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