MCID: ATS009
MIFTS: 30

Autosomal Genetic Disease

Categories: Genetic diseases

Aliases & Classifications for Autosomal Genetic Disease

MalaCards integrated aliases for Autosomal Genetic Disease:

Name: Autosomal Genetic Disease 12 15
Autosomal Hereditary Disorder 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0050739
UMLS 74 C0265384

Summaries for Autosomal Genetic Disease

Disease Ontology : 12 A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.

MalaCards based summary : Autosomal Genetic Disease, also known as autosomal hereditary disorder, is related to autosomal dominant disease and familial adenomatous polyposis. An important gene associated with Autosomal Genetic Disease is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are DNA Double-Strand Break Repair and TCR Signaling (Qiagen). Related phenotypes are no effect and Increased viability with MLN4924 (a NAE inhibitor)

Related Diseases for Autosomal Genetic Disease

Diseases related to Autosomal Genetic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant disease 31.7 MEN1 MLH1 MSH2 MSH6 NF1
2 familial adenomatous polyposis 31.5 MLH1 MSH2 MSH6
3 autosomal recessive disease 31.5 ABCC6 ATM CFTR FXN HBB WRN
4 septooptic dysplasia 10.6
5 liebenberg syndrome 10.6
6 factor xii deficiency 10.6
7 microphthalmia, syndromic 9 10.6
8 brachydactyly-syndactyly syndrome 10.6
9 weill-marchesani syndrome 10.6
10 aicardi-goutieres syndrome 10.6
11 camptodactyly-tall stature-scoliosis-hearing loss syndrome 10.6
12 long qt syndrome 10.6
13 appendix carcinoid tumor 10.6 MLH1 MSH2 MSH6
14 colorectal cancer, hereditary nonpolyposis, type 7 10.6 MLH1 MSH2
15 adenosquamous colon carcinoma 10.6 MLH1 MSH2 MSH6
16 sebaceous adenoma 10.6 MLH1 MSH2 MSH6
17 legius syndrome 10.6 MSH2 MSH6 NF1
18 neurofibromatosis, familial spinal 10.6 NF1 NF2
19 cecum adenocarcinoma 10.6 MLH1 MSH2 MSH6
20 multiple endocrine neoplasia, type iia 10.6 MEN1 NF1 RET
21 lynch syndrome i 10.6 MLH1 MSH2 MSH6
22 sebaceous adenocarcinoma 10.6 MLH1 MSH2 MSH6
23 multiple endocrine neoplasia 10.6 MEN1 NF1 RET
24 muir-torre syndrome 10.5 MLH1 MSH2 MSH6
25 lower lip cancer 10.5 MLH1 MSH2
26 mismatch repair cancer syndrome 10.5 MLH1 MSH2 MSH6
27 colorectal cancer, hereditary nonpolyposis, type 5 10.5 MLH1 MSH2 MSH6
28 hereditary ataxia 10.5 ATM ATXN3 FXN
29 uterine anomalies 10.5 MLH1 MSH2 MSH6
30 small intestine cancer 10.5 MEN1 MLH1 MSH2 MSH6
31 psammomatous meningioma 10.5 ERCC6 NF2
32 adenoma 10.5 MEN1 MLH1 MSH2 RET
33 colorectal adenocarcinoma 10.5 MLH1 MSH2 MSH6
34 von hippel-lindau syndrome 10.5 MEN1 NF1 RET
35 skin benign neoplasm 10.5 MLH1 MSH2 MSH6 XPA
36 hereditary breast ovarian cancer syndrome 10.5 ATM MLH1 MSH6
37 neurofibromatosis, type iv, of riccardi 10.5 MSH6 NF1 NF2 RET
38 female reproductive system disease 10.5 MLH1 MSH2 MSH6
39 li-fraumeni syndrome 10.5 ATM MLH1 NF1
40 colonic disease 10.5 MLH1 MSH2 MSH6 RET
41 anal fistula 10.5 MLH1 MSH2
42 colorectal cancer 5 10.5 MLH1 MSH6
43 intestinal disease 10.5 MLH1 MSH2 MSH6
44 gastrointestinal system cancer 10.5 MLH1 MSH2 MSH6
45 attenuated familial adenomatous polyposis 10.5 MSH2 MSH6
46 endocrine gland cancer 10.5 MEN1 MLH1 RET
47 plexiform schwannoma 10.4 NF1 NF2
48 meningioma, familial 10.4 MEN1 NF1 NF2
49 brain cancer 10.4 MSH2 MSH6 NF1 NF2
50 hyperparathyroidism 2 with jaw tumors 10.4 MEN1 RET

Graphical network of the top 20 diseases related to Autosomal Genetic Disease:



Diseases related to Autosomal Genetic Disease

Symptoms & Phenotypes for Autosomal Genetic Disease

GenomeRNAi Phenotypes related to Autosomal Genetic Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCC6 ATM ATXN3 BLOC1S1 CFTR ERCC6
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.56 ATM ERCC6 MEN1 MLH1 MSH2 MSH6
3 Increased proliferation GR00094-A 9.16 MEN1 NF2

MGI Mouse Phenotypes related to Autosomal Genetic Disease:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 ATM BLOC1S1 ERCC6 FXN MEN1 MLH1
2 homeostasis/metabolism MP:0005376 10.33 ABCC6 ATM ATXN3 BLOC1S1 CFTR ERCC6
3 behavior/neurological MP:0005386 10.25 ATM ATXN3 CFTR ERCC6 FXN NF1
4 growth/size/body region MP:0005378 10.2 ATM CFTR ERCC6 FXN MEN1 NF1
5 cardiovascular system MP:0005385 10.19 ABCC6 ATM FXN MEN1 NF1 PRKD1
6 immune system MP:0005387 10.18 ATM CFTR ERCC6 FXN MEN1 MLH1
7 mortality/aging MP:0010768 10.16 ATM BLOC1S1 CFTR ERCC6 FXN MEN1
8 endocrine/exocrine gland MP:0005379 10.13 ATM CFTR MEN1 MLH1 NF1 NF2
9 hematopoietic system MP:0005397 10.13 ATM CFTR ERCC6 MLH1 MSH2 MSH6
10 digestive/alimentary MP:0005381 10.1 CFTR MEN1 MLH1 MSH2 NF1 RET
11 integument MP:0010771 10.06 ABCC6 ATM ERCC6 MLH1 MSH2 MSH6
12 craniofacial MP:0005382 10.05 CFTR MEN1 NF1 NF2 RYR1 WRN
13 muscle MP:0005369 9.76 ERCC6 FXN MEN1 NF1 PRKD1 RET
14 neoplasm MP:0002006 9.7 ATM ERCC6 MEN1 MLH1 MSH2 MSH6
15 vision/eye MP:0005391 9.28 ABCC6 BLOC1S1 CFTR ERCC6 MLH1 NF1

Drugs & Therapeutics for Autosomal Genetic Disease

Search Clinical Trials , NIH Clinical Center for Autosomal Genetic Disease

Genetic Tests for Autosomal Genetic Disease

Anatomical Context for Autosomal Genetic Disease

Publications for Autosomal Genetic Disease

Variations for Autosomal Genetic Disease

Expression for Autosomal Genetic Disease

Search GEO for disease gene expression data for Autosomal Genetic Disease.

Pathways for Autosomal Genetic Disease

Pathways related to Autosomal Genetic Disease according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 ATM ERCC6 MLH1 MSH2 MSH6 WRN
2
Show member pathways
12.67 ATM MLH1 MSH2 MSH6 PRKD1
3
Show member pathways
12.34 ATM ATXN3 ERCC6 MSH2 MSH6 XPA
4 12.1 ATM MLH1 MSH2 MSH6 WRN XPA
5 11.81 ATM MSH2 MSH6 NF1
6
Show member pathways
11.64 MLH1 MSH2 MSH6
7
Show member pathways
11.55 ATM MSH2 MSH6
8 11.34 ATM MLH1 MSH2 MSH6
9 11.22 ATM MLH1 MSH2 MSH6 XPA
10 11.21 ATM MSH2 MSH6
11 10.48 ERCC6 MLH1 MSH2 MSH6 XPA

GO Terms for Autosomal Genetic Disease

Cellular components related to Autosomal Genetic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication factor A complex GO:0005662 9.32 WRN XPA
2 MutLalpha complex GO:0032389 8.96 MLH1
3 MutSalpha complex GO:0032301 8.96 MSH2 MSH6
4 mismatch repair complex GO:0032300 8.8 MLH1 MSH2 MSH6
5 nucleus GO:0005634 10.03 ABCC6 ATM ATXN3 CFTR ERCC6 HIST2H2AA3

Biological processes related to Autosomal Genetic Disease according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.91 MEN1 NF1 NF2 WRN
2 cellular response to DNA damage stimulus GO:0006974 9.76 ATM ERCC6 MEN1 MLH1 MSH2 MSH6
3 base-excision repair GO:0006284 9.69 ERCC6 WRN XPA
4 mismatch repair GO:0006298 9.67 MLH1 MSH2 MSH6
5 response to UV GO:0009411 9.67 ERCC6 MEN1 MSH6 XPA
6 somatic hypermutation of immunoglobulin genes GO:0016446 9.63 MLH1 MSH2 MSH6
7 negative regulation of DNA recombination GO:0045910 9.62 MSH2 MSH6
8 oxidative phosphorylation GO:0006119 9.61 FXN MSH2
9 isotype switching GO:0045190 9.61 MLH1 MSH2 MSH6
10 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.6 ABCC6 CFTR
11 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.59 NF1 RET
12 response to UV-B GO:0010224 9.58 ERCC6 MSH2
13 positive regulation of isotype switching to IgG isotypes GO:0048304 9.58 MLH1 MSH2
14 determination of adult lifespan GO:0008340 9.58 MSH2 MSH6 WRN
15 positive regulation of helicase activity GO:0051096 9.57 MSH2 MSH6
16 DNA repair GO:0006281 9.56 ATM ERCC6 MEN1 MLH1 MSH2 MSH6
17 maintenance of DNA repeat elements GO:0043570 9.55 MSH2 MSH6
18 positive regulation of isotype switching to IgA isotypes GO:0048298 9.54 MLH1 MSH2
19 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.48 MLH1 MSH2
20 somatic recombination of immunoglobulin gene segments GO:0016447 9.43 MLH1 MSH2 MSH6
21 pyrimidine dimer repair GO:0006290 9.32 ERCC6 MSH6
22 replication fork arrest GO:0043111 9.26 MSH6
23 meiotic mismatch repair GO:0000710 9.22 MSH6
24 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.1 ATM ERCC6 MLH1 MSH2 MSH6 XPA

Molecular functions related to Autosomal Genetic Disease according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.92 CFTR MLH1 MSH2 MSH6 RYR1
2 chromatin binding GO:0003682 9.91 ERCC6 MEN1 MLH1 MSH2 MSH6 WRN
3 ATPase activity GO:0016887 9.85 ABCC6 CFTR MLH1 MSH2 MSH6 WRN
4 protein N-terminus binding GO:0047485 9.75 ATM ERCC6 MEN1
5 protein-containing complex binding GO:0044877 9.74 ATM ERCC6 WRN
6 damaged DNA binding GO:0003684 9.72 MSH2 MSH6 XPA
7 ATP binding GO:0005524 9.7 ABCC6 ATM CFTR ERCC6 MLH1 MSH2
8 DNA-dependent ATPase activity GO:0008094 9.67 ERCC6 MSH2 MSH6
9 mismatched DNA binding GO:0030983 9.58 MLH1 MSH2 MSH6
10 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.56 ABCC6 CFTR
11 oxidized purine DNA binding GO:0032357 9.54 MSH2 MSH6
12 single thymine insertion binding GO:0032143 9.51 MSH2 MSH6
13 MutLalpha complex binding GO:0032405 9.5 MSH2 MSH6 WRN
14 single guanine insertion binding GO:0032142 9.48 MSH2 MSH6
15 guanine/thymine mispair binding GO:0032137 9.33 MLH1 MSH2 MSH6
16 Y-form DNA binding GO:0000403 9.26 MEN1 WRN
17 four-way junction DNA binding GO:0000400 8.92 MEN1 MSH2 MSH6 WRN
18 protein binding GO:0005515 10.41 ATM ATXN3 BLOC1S1 CFTR ERCC6 FXN

Sources for Autosomal Genetic Disease

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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