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 14
Autosomal Hereditary Disorder 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0050739
UMLS 69 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 recessive disease and autosomal dominant 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 Pathways in cancer. 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 top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 31.5 ABCC6 CFTR HBB HBE1 WRN XPA
2 autosomal dominant disease 31.1 MEN1 MLH1 MSH2 MSH6 NF1 NF2
3 neurofibromatosis, familial spinal 10.7 NF1 NF2
4 multiple endocrine neoplasia type 1 and type 2 10.7 MEN1 RET
5 amyloid tumor 10.7 NF1 NF2 PKDREJ
6 spinal cord ependymoma 10.7 MEN1 NF1 NF2
7 legius syndrome 10.7 MSH2 MSH6 NF1
8 cecum adenocarcinoma 10.7 MLH1 MSH2 MSH6
9 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.7 MEN1 PKD1 PKD2
10 small intestine cancer 10.7 MLH1 MSH2 MSH6
11 organ system benign neoplasm 10.7 MEN1 NF1 NF2
12 multiple endocrine neoplasia, type iia 10.7 MEN1 NF1 RET
13 hereditary breast ovarian cancer syndrome 10.7 MLH1 MSH2 MSH6
14 multiple endocrine neoplasia 10.7 MEN1 NF1 RET
15 multiple endocrine neoplasia, type iib 10.7 MEN1 PTCH1 RET
16 lower lip cancer 10.7 MLH1 MSH2
17 skin benign neoplasm 10.7 MLH1 MSH2 MSH6 XPA
18 appendix carcinoid tumor 10.7 MLH1 MSH2 MSH6 PMS2
19 adenosquamous colon carcinoma 10.7 MLH1 MSH2 MSH6 PMS2
20 sebaceous adenoma 10.6 MLH1 MSH2 MSH6 PMS2
21 lynch syndrome i 10.6 MLH1 MSH2 MSH6 PMS2
22 anal fistula 10.6 MLH1 MSH2
23 sebaceous adenocarcinoma 10.6 MLH1 MSH2 MSH6 PMS2
24 muir-torre syndrome 10.6 MLH1 MSH2 MSH6 PMS2
25 colorectal adenocarcinoma 10.6 MLH1 MSH2 MSH6
26 cell type benign neoplasm 10.6 MEN1 MLH1 RET
27 polycystic kidney disease 5 10.6 PKD1 PKD2
28 mismatch repair cancer syndrome 10.6 MLH1 MSH2 MSH6 PMS2
29 polycystic liver disease 1 10.6 PKD1 PKD2 PTCH1
30 polycystic liver disease 10.6 PKD1 PKD2 PKDREJ
31 bardet-biedl syndrome 17 10.6 PKD1 PKD2 PTCH1
32 renal hypodysplasia/aplasia 1 10.6 CFTR PKDREJ RET
33 female reproductive organ cancer 10.6 MLH1 MSH2 MSH6 PMS2
34 lymphatic malformations 10.6 PKD1 PKD2
35 von hippel-lindau syndrome 10.6 MEN1 NF1 RET
36 gastrointestinal system cancer 10.6 MLH1 MSH2 MSH6 PMS2
37 polycystic kidney disease 3 10.6 PKD1 PKD2 PKDREJ PRKD1
38 lynch syndrome 10.6 MLH1 MSH2 MSH6 PMS2
39 reproductive organ cancer 10.6 MLH1 MSH2 MSH6
40 attenuated familial adenomatous polyposis 10.6 MSH2 MSH6
41 polycystic kidney disease 2 10.6 PKD1 PKD2 PKDREJ PRKD1
42 polycystic kidney disease 4 with or without hepatic disease 10.6 PKD1 PKD2 PKDREJ PRKD1
43 nervous system cancer 10.6 NF1 NF2 PTCH1
44 endocrine gland cancer 10.6 MEN1 MLH1 PTCH1 RET
45 meningioma, familial 10.6 MEN1 NF1 NF2 PTCH1
46 atypical polypoid adenomyoma 10.6 MLH1 MSH2
47 polycystic kidney disease 1 10.6 PKD1 PKD2 PRKD1
48 adenoma 10.6 MEN1 MLH1 MSH2 RET
49 polycystic kidney disease 10.6 PKD1 PKD2 PKDREJ
50 xfe progeroid syndrome 10.6 ERCC1 WRN

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:

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.13 PTCH1 PKD2 ERCC1 PMS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.13 MSH2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.13 ERCC1 PMS2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.13 PKD2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.13 ERCC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.13 MSH2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.13 PMS2 PTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.13 PMS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.13 PTCH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.13 PMS2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.13 MSH2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.13 PKD2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.13 MSH2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.13 MSH2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.13 PMS2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.13 PKD2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.13 MSH2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.13 PMS2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.13 PTCH1 MSH2 PKD2 ERCC1 PMS2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.13 PTCH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.13 ERCC1
22 Increased cell migration GR00055-A-3 9.56 NF1 NF2 PKD1 PKD2
23 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.28 MEN1 MLH1 MSH2 WRN XPA MSH6
24 Increased proliferation GR00094-A 9.16 MEN1 NF2

MGI Mouse Phenotypes related to Autosomal Genetic Disease:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.4 CFTR MLH1 ERCC1 MSH2 ABCC6 MEN1
2 cellular MP:0005384 10.38 MEN1 MLH1 ERCC1 MSH6 NF1 PKD1
3 endocrine/exocrine gland MP:0005379 10.34 MLH1 ERCC1 MEN1 CFTR NF1 PKD1
4 mortality/aging MP:0010768 10.31 MEN1 CFTR MLH1 ERCC1 MSH2 NF1
5 digestive/alimentary MP:0005381 10.29 CFTR MLH1 MSH2 MEN1 NF1 PKD1
6 immune system MP:0005387 10.29 MEN1 CFTR ERCC1 MSH2 NF1 PKD1
7 hematopoietic system MP:0005397 10.25 CFTR ERCC1 NF1 PKD1 MSH2 PMS2
8 integument MP:0010771 10.2 MLH1 ERCC1 MSH2 ABCC6 MSH6 NF1
9 craniofacial MP:0005382 10.16 MEN1 CFTR NF1 PKD1 NF2 PTCH1
10 embryo MP:0005380 10.14 MEN1 ERCC1 NF2 NF1 PKD1 PKD2
11 neoplasm MP:0002006 10.13 MLH1 ERCC1 MSH2 MEN1 NF1 PKD1
12 liver/biliary system MP:0005370 10.09 MEN1 CFTR ERCC1 NF1 PKD1 NF2
13 muscle MP:0005369 9.97 MEN1 ERCC1 NF1 PKD1 RET PRKD1
14 reproductive system MP:0005389 9.93 CFTR MLH1 ERCC1 MEN1 PKD1 NF2
15 renal/urinary system MP:0005367 9.86 ERCC1 ABCC6 NF1 PKD1 NF2 RET
16 respiratory system MP:0005388 9.56 CFTR MLH1 NF1 PKD1 NF2 RET
17 vision/eye MP:0005391 9.23 CFTR MLH1 ABCC6 NF2 NF1 PTCH1

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

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 ciliary membrane GO:0060170 9.54 PKD1 PKD2 PTCH1
2 hemoglobin complex GO:0005833 9.4 HBB HBE1
3 mismatch repair complex GO:0032300 9.32 MLH1 MSH2
4 MutSalpha complex GO:0032301 9.26 MSH2 MSH6
5 nucleotide-excision repair factor 1 complex GO:0000110 9.16 ERCC1 XPA
6 polycystin complex GO:0002133 8.96 PKD1 PKD2
7 MutLalpha complex GO:0032389 8.8 MLH1 PMS2 WRN
8 nucleus GO:0005634 10.28 ABCC6 ERCC1 MEN1 MLH1 MSH2 MSH6

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.94 NF1 NF2 PKD2 PTCH1
2 brain development GO:0007420 9.91 MEN1 NF1 NF2 PTCH1 WRN
3 cellular response to DNA damage stimulus GO:0006974 9.86 ERCC1 MEN1 MLH1 MSH2 MSH6 PMS2
4 liver development GO:0001889 9.83 NF1 PKD1 PKD2
5 double-strand break repair GO:0006302 9.8 ERCC1 MSH2 WRN
6 response to UV GO:0009411 9.77 MEN1 MSH6 XPA
7 neural tube development GO:0021915 9.72 NF1 PKD1 PKD2
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.71 MLH1 MSH2 MSH6 XPA
9 spinal cord development GO:0021510 9.7 NF1 PKD1 PKD2
10 multicellular organism aging GO:0010259 9.68 ERCC1 WRN
11 oxygen transport GO:0015671 9.68 HBB HBE1
12 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.67 ABCC6 CFTR
13 determination of adult lifespan GO:0008340 9.67 MSH2 MSH6
14 UV protection GO:0009650 9.67 ERCC1 XPA
15 mismatch repair GO:0006298 9.67 MLH1 MSH2 MSH6 PMS2
16 placenta blood vessel development GO:0060674 9.66 PKD1 PKD2
17 t-circle formation GO:0090656 9.65 ERCC1 WRN
18 cytoplasmic sequestering of transcription factor GO:0042994 9.65 PKD1 PKD2
19 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.65 NF1 RET
20 UV-damage excision repair GO:0070914 9.64 ERCC1 XPA
21 positive regulation of isotype switching to IgG isotypes GO:0048304 9.63 MLH1 MSH2
22 renal system development GO:0072001 9.63 PKD1 PKD2 PTCH1
23 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.62 PKD1 PKD2
24 mesonephric tubule development GO:0072164 9.61 PKD1 PKD2
25 positive regulation of helicase activity GO:0051096 9.61 MSH2 MSH6
26 detection of mechanical stimulus GO:0050982 9.61 PKD1 PKD2 PKDREJ
27 negative regulation of DNA recombination GO:0045910 9.6 MSH2 MSH6
28 maintenance of DNA repeat elements GO:0043570 9.58 MSH2 MSH6
29 positive regulation of isotype switching to IgA isotypes GO:0048298 9.58 MLH1 MSH2
30 replicative cell aging GO:0001302 9.57 ERCC1 WRN
31 mesonephric duct development GO:0072177 9.56 PKD1 PKD2
32 metanephric ascending thin limb development GO:0072218 9.54 PKD1 PKD2
33 somatic recombination of immunoglobulin gene segments GO:0016447 9.5 MLH1 MSH2 MSH6
34 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.49 MLH1 MSH2
35 meiotic mismatch repair GO:0000710 9.48 ERCC1 MSH6
36 somatic hypermutation of immunoglobulin genes GO:0016446 9.46 MLH1 MSH2 MSH6 PMS2
37 isotype switching GO:0045190 9.26 ERCC1 MLH1 MSH2 MSH6
38 DNA repair GO:0006281 9.23 ERCC1 MEN1 MLH1 MSH2 MSH6 PMS2
39 negative regulation of cell proliferation GO:0008285 10.03 MEN1 NF1 NF2 PKD2 PTCH1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.74 PKD1 PKD2 PKDREJ
2 single-stranded DNA binding GO:0003697 9.73 ERCC1 MLH1 MSH2 PMS2
3 damaged DNA binding GO:0003684 9.67 ERCC1 MSH2 MSH6 XPA
4 oxygen carrier activity GO:0005344 9.56 HBB HBE1
5 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.55 ABCC6 CFTR
6 oxidized purine DNA binding GO:0032357 9.54 MSH2 MSH6
7 MutLalpha complex binding GO:0032405 9.52 MSH2 MSH6
8 MutSalpha complex binding GO:0032407 9.51 MLH1 PMS2
9 Y-form DNA binding GO:0000403 9.5 MEN1 MSH2 WRN
10 ATPase activity GO:0016887 9.5 ABCC6 CFTR MLH1 MSH2 MSH6 PMS2
11 single guanine insertion binding GO:0032142 9.48 MSH2 MSH6
12 four-way junction DNA binding GO:0000400 9.46 MEN1 MSH2 MSH6 WRN
13 guanine/thymine mispair binding GO:0032137 9.43 MLH1 MSH2 MSH6
14 single thymine insertion binding GO:0032143 9.4 MSH2 MSH6
15 mismatched DNA binding GO:0030983 8.92 MLH1 MSH2 MSH6 PMS2
16 protein binding GO:0005515 10.45 CFTR ERCC1 HBB HBE1 MEN1 MLH1
17 ATP binding GO:0005524 10.11 ABCC6 CFTR MLH1 MSH2 MSH6 PMS2

Sources for Autosomal Genetic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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