MCID: ATS009
MIFTS: 31

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 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050739
UMLS 73 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 autosomal recessive disease. An important gene associated with Autosomal Genetic Disease is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways/superpathways are DNA Double-Strand Break Repair and TCR Signaling (Qiagen). Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autosomal Genetic Disease

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant disease 31.4 MEN1 MLH1 MSH2 MSH6 NF1
2 autosomal recessive disease 31.2 ABCC6 ATM CFTR DMD F9 FXN
3 septooptic dysplasia 10.6
4 liebenberg syndrome 10.6
5 microphthalmia, syndromic 9 10.6
6 weill-marchesani syndrome 10.6
7 aicardi-goutieres syndrome 10.6
8 camptodactyly-tall stature-scoliosis-hearing loss syndrome 10.6
9 long qt syndrome 10.6
10 colorectal cancer, hereditary nonpolyposis, type 7 10.4 MLH1 MSH2
11 appendix carcinoid tumor 10.4 MLH1 MSH2 MSH6
12 legius syndrome 10.4 MSH2 MSH6 NF1
13 adenosquamous colon carcinoma 10.4 MLH1 MSH2 MSH6
14 sebaceous adenoma 10.4 MLH1 MSH2 MSH6
15 cecum adenocarcinoma 10.4 MLH1 MSH2 MSH6
16 lynch syndrome i 10.4 MLH1 MSH2 MSH6
17 neurofibromatosis, familial spinal 10.4 NF1 NF2
18 sebaceous adenocarcinoma 10.4 MLH1 MSH2 MSH6
19 muir-torre syndrome 10.4 MLH1 MSH2 MSH6
20 mismatch repair cancer syndrome 10.4 MLH1 MSH2 MSH6
21 colorectal cancer, hereditary nonpolyposis, type 5 10.4 MLH1 MSH2 MSH6
22 neurofibromatosis, type iv, of riccardi 10.3 MSH6 NF1 NF2
23 uterine anomalies 10.3 MLH1 MSH2 MSH6
24 hereditary ataxia 10.3 ATM ATXN3 FXN
25 colonic disease 10.3 MLH1 MSH2 MSH6
26 small intestine cancer 10.3 MEN1 MLH1 MSH2 MSH6
27 colorectal adenocarcinoma 10.3 MLH1 MSH2 MSH6
28 colorectal cancer 5 10.3 MLH1 MSH6
29 lower lip cancer 10.3 MLH1 MSH2
30 skin benign neoplasm 10.3 MLH1 MSH2 MSH6 XPA
31 scoliosis 10.3 DMD FXN NF1 RYR1
32 female reproductive system disease 10.3 MLH1 MSH2 MSH6
33 hereditary breast ovarian cancer syndrome 10.3 ATM MLH1 MSH6
34 anal fistula 10.3 MLH1 MSH2
35 li-fraumeni syndrome 10.3 ATM MLH1 NF1
36 polycystic kidney disease 1 with or without polycystic liver disease 10.3 CFTR PKD1 PRKD1
37 cystic kidney disease 10.3 CFTR PKD1 PRKD1
38 attenuated familial adenomatous polyposis 10.3 MSH2 MSH6
39 intestinal disease 10.3 MLH1 MSH2 MSH6
40 gastrointestinal system cancer 10.3 MLH1 MSH2 MSH6
41 familial adenomatous polyposis 10.3 MLH1 MSH2 MSH6
42 meningioma, familial 10.3 MEN1 NF1 NF2
43 intracranial berry aneurysm 10.3 NF1 PKD1
44 plexiform schwannoma 10.2 NF1 NF2
45 brain cancer 10.2 MSH2 MSH6 NF1 NF2
46 gastric leiomyoma 10.2 MLH1 MSH6
47 aceruloplasminemia 10.1 ATM ATXN3 FXN

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:

26 (show all 50)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.55 ATM ATXN3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.55 ATM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.55 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.55 MEN1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.55 ATM MEN1 PSMD9
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.55 PSMD9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.55 MEN1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.55 PSMD9
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.55 ATXN3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.55 ATXN3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.55 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.55 ATM PSMD9
13 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.55 F9
14 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.55 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.55 ATM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.55 F9
17 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.55 PSMD9
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.55 ATXN3 F9
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.55 MEN1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.55 F9
21 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.55 ATXN3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.55 F9
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.55 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.55 ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.55 ATXN3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.55 ATM F9
27 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.55 PSMD9
28 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.55 MEN1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.55 F9
30 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.55 MEN1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.55 MEN1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.55 PSMD9
33 Increased shRNA abundance (Z-score > 2) GR00366-A-51 10.55 PSMD9
34 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.55 ATXN3
35 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.55 ATXN3
36 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.55 ATM
37 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.55 ATM ATXN3 F9 MEN1 PSMD9
38 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.55 ATM ATXN3
39 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.55 F9
40 Decreased viability GR00055-A-2 10.51 PKD1
41 Decreased viability GR00106-A-0 10.51 MEN1
42 Decreased viability GR00221-A-1 10.51 FXN NF1
43 Decreased viability GR00221-A-2 10.51 NF1
44 Decreased viability GR00221-A-3 10.51 ATM NF2
45 Decreased viability GR00221-A-4 10.51 ATM NF1
46 Decreased viability GR00301-A 10.51 FXN MSH2
47 Decreased viability GR00402-S-2 10.51 ABCC6 ATM ATXN3 CFTR DMD F9
48 no effect GR00402-S-1 9.62 ABCC6 ATM ATXN3 CFTR DMD F9
49 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.5 ATM MEN1 MLH1 MSH2 MSH6 WRN
50 Increased proliferation GR00094-A 9.26 MEN1 NF2

MGI Mouse Phenotypes related to Autosomal Genetic Disease:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 ABCC6 ATM ATXN3 CFTR DMD F9
2 cellular MP:0005384 10.34 ATM DMD FXN MEN1 MLH1 MSH2
3 cardiovascular system MP:0005385 10.31 ABCC6 ATM DMD F9 FXN MEN1
4 immune system MP:0005387 10.3 ATM CFTR DMD F9 FXN MEN1
5 hematopoietic system MP:0005397 10.27 ATM ATXN3 CFTR DMD F9 MLH1
6 mortality/aging MP:0010768 10.27 ATM CFTR DMD F9 FXN MEN1
7 growth/size/body region MP:0005378 10.25 ATM CFTR DMD FXN MEN1 NF1
8 endocrine/exocrine gland MP:0005379 10.22 ATM CFTR DMD MEN1 MLH1 NF1
9 digestive/alimentary MP:0005381 10.19 CFTR DMD MEN1 MLH1 MSH2 NF1
10 integument MP:0010771 10.17 ABCC6 ATM MLH1 MSH2 MSH6 NF1
11 craniofacial MP:0005382 10.15 CFTR MEN1 NF1 NF2 PKD1 RYR1
12 adipose tissue MP:0005375 10.05 ATM DMD PKD1 RYR1 WRN XPA
13 liver/biliary system MP:0005370 10.01 CFTR DMD F9 MEN1 NF1 NF2
14 neoplasm MP:0002006 9.96 ATM MEN1 MLH1 MSH2 MSH6 NF1
15 muscle MP:0005369 9.92 DMD FXN MEN1 NF1 PKD1 PRKD1
16 reproductive system MP:0005389 9.81 ATM CFTR DMD MEN1 MLH1 NF2
17 respiratory system MP:0005388 9.5 CFTR DMD MLH1 NF1 NF2 PKD1
18 vision/eye MP:0005391 9.23 ABCC6 CFTR DMD MLH1 NF1 NF2

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
12.96 ATM MLH1 MSH2 MSH6 WRN XPA
2
Show member pathways
12.67 ATM MLH1 MSH2 MSH6 PRKD1
3
Show member pathways
12.41 ATM ATXN3 MSH2 MSH6 XPA
4 12.1 ATM MLH1 MSH2 MSH6 WRN XPA
5 11.75 ATM MSH2 MSH6 NF1
6
Show member pathways
11.62 MLH1 MSH2 MSH6
7
Show member pathways
11.53 ATM MSH2 MSH6
8 11.27 ATM MLH1 MSH2 MSH6
9 11.16 ATM MSH2 MSH6
10 10.88 ATM MLH1 MSH2 MSH6 XPA
11 10.72 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 nucleus GO:0005634 9.86 ABCC6 ATM ATXN3 CFTR DMD MEN1
2 Golgi-associated vesicle membrane GO:0030660 9.46 CFTR PKD1
3 filopodium membrane GO:0031527 9.43 DMD NF2
4 lateral plasma membrane GO:0016328 9.43 ABCC6 DMD PKD1
5 DNA replication factor A complex GO:0005662 9.4 WRN XPA
6 MutLalpha complex GO:0032389 9.32 MLH1 WRN
7 MutSalpha complex GO:0032301 9.16 MSH2 MSH6
8 mismatch repair complex GO:0032300 8.8 MLH1 MSH2 MSH6
9 cytoplasm GO:0005737 10.21 ATM ATXN3 CFTR DMD FXN MEN1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.88 MEN1 NF1 NF2 WRN
2 cellular response to DNA damage stimulus GO:0006974 9.8 ATM MEN1 MLH1 MSH2 MSH6 WRN
3 response to UV GO:0009411 9.7 MEN1 MSH6 XPA
4 DNA repair GO:0006281 9.7 ATM MEN1 MLH1 MSH2 MSH6 WRN
5 mismatch repair GO:0006298 9.63 MLH1 MSH2 MSH6
6 negative regulation of DNA recombination GO:0045910 9.6 MSH2 MSH6
7 oxidative phosphorylation GO:0006119 9.59 FXN MSH2
8 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.58 ABCC6 CFTR
9 somatic hypermutation of immunoglobulin genes GO:0016446 9.58 MLH1 MSH2 MSH6
10 positive regulation of isotype switching to IgG isotypes GO:0048304 9.57 MLH1 MSH2
11 positive regulation of helicase activity GO:0051096 9.56 MSH2 MSH6
12 pyrimidine dimer repair GO:0006290 9.55 MSH2 MSH6
13 replication fork arrest GO:0043111 9.54 MSH2 MSH6
14 isotype switching GO:0045190 9.54 MLH1 MSH2 MSH6
15 maintenance of DNA repeat elements GO:0043570 9.51 MSH2 MSH6
16 determination of adult lifespan GO:0008340 9.5 MSH2 MSH6 WRN
17 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MLH1 MSH2
18 meiotic mismatch repair GO:0000710 9.48 MSH2 MSH6
19 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.43 MLH1 MSH2
20 somatic recombination of immunoglobulin gene segments GO:0016447 9.13 MLH1 MSH2 MSH6
21 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.02 ATM MLH1 MSH2 MSH6 XPA

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.92 MEN1 MLH1 MSH2 MSH6 WRN
2 enzyme binding GO:0019899 9.89 CFTR MLH1 MSH2 MSH6 RYR1
3 protein-containing complex binding GO:0044877 9.86 ATM CFTR DMD WRN
4 ATPase activity GO:0016887 9.8 ABCC6 CFTR MLH1 MSH2 MSH6 WRN
5 damaged DNA binding GO:0003684 9.71 MSH2 MSH6 XPA
6 mismatched DNA binding GO:0030983 9.58 MLH1 MSH2 MSH6
7 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.55 ABCC6 CFTR
8 oxidized purine DNA binding GO:0032357 9.51 MSH2 MSH6
9 single thymine insertion binding GO:0032143 9.48 MSH2 MSH6
10 single guanine insertion binding GO:0032142 9.46 MSH2 MSH6
11 MutLalpha complex binding GO:0032405 9.43 MSH2 MSH6 WRN
12 Y-form DNA binding GO:0000403 9.33 MEN1 MSH2 WRN
13 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
14 four-way junction DNA binding GO:0000400 8.92 MEN1 MSH2 MSH6 WRN
15 protein binding GO:0005515 10.35 ATM ATXN3 CFTR DMD F9 FXN
16 ATP binding GO:0005524 10.09 ABCC6 ATM CFTR MLH1 MSH2 MSH6

Sources for Autosomal Genetic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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