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 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 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 31.7 ABCC6 CFTR ERCC1 HBB HBE1 WRN
2 autosomal dominant disease 31.6 MEN1 MLH1 MSH2 MSH6 NF1 NF2
3 amyloid tumor 11.1 NF1 NF2 PKDREJ
4 spinal cord ependymoma 11.1 MEN1 NF1 NF2
5 legius syndrome 11.1 MSH2 MSH6 NF1
6 neurofibromatosis, familial spinal 11.1 NF1 NF2
7 cecum adenocarcinoma 11.1 MLH1 MSH2 MSH6
8 organ system benign neoplasm 11.1 MEN1 NF1 NF2
9 multiple endocrine neoplasia, type iia 11.1 MEN1 NF1 RET
10 multiple endocrine neoplasia 11.1 MEN1 NF1 RET
11 lower lip cancer 11.1 MLH1 MSH2
12 multiple endocrine neoplasia, type iib 11.0 MEN1 PTCH1 RET
13 appendix carcinoid tumor 11.0 MLH1 MSH2 MSH6 PMS2
14 skin benign neoplasm 11.0 MLH1 MSH2 MSH6 XPA
15 adenosquamous colon carcinoma 11.0 MLH1 MSH2 MSH6 PMS2
16 neuroma 11.0 NF1 NF2 RET
17 sebaceous adenoma 11.0 MLH1 MSH2 MSH6 PMS2
18 lymphatic malformations 11.0 PKD1 PKD2
19 lynch syndrome i 11.0 MLH1 MSH2 MSH6 PMS2
20 cell type benign neoplasm 11.0 MEN1 MLH1 RET
21 sebaceous adenocarcinoma 11.0 MLH1 MSH2 MSH6 PMS2
22 multicystic dysplastic kidney 11.0 PKD1 PKD2
23 muir-torre syndrome 11.0 MLH1 MSH2 MSH6 PMS2
24 colorectal adenocarcinoma 11.0 MLH1 MSH2 MSH6
25 anal fistula 11.0 MLH1 MSH2
26 bardet-biedl syndrome 17 11.0 PKD1 PKD2 PTCH1
27 mismatch repair cancer syndrome 11.0 MLH1 MSH2 MSH6 PMS2
28 renal hypodysplasia/aplasia 1 11.0 CFTR PKDREJ RET
29 female reproductive organ cancer 11.0 MLH1 MSH2 MSH6 PMS2
30 polycystic kidney disease 3 with or without polycystic liver disease 11.0 PKD1 PKD2 PKDREJ PRKD1
31 gastrointestinal system cancer 11.0 MLH1 MSH2 MSH6 PMS2
32 polycystic liver disease 11.0 PKD1 PKD2 PKDREJ
33 nervous system cancer 11.0 NF1 NF2 PTCH1
34 polycystic kidney disease 2 with or without polycystic liver disease 11.0 PKD1 PKD2 PKDREJ PRKD1
35 von hippel-lindau syndrome 11.0 MEN1 NF1 RET
36 polycystic liver disease 1 with or without kidney cysts 11.0 PKD1 PKD2 PTCH1
37 lynch syndrome 11.0 MLH1 MSH2 MSH6 PMS2
38 meningioma, familial 11.0 MEN1 NF1 NF2 PTCH1
39 polycystic kidney disease 4 with or without polycystic liver disease 11.0 PKD1 PKD2 PKDREJ PRKD1
40 attenuated familial adenomatous polyposis 11.0 MSH2 MSH6
41 endocrine gland cancer 11.0 MEN1 MLH1 PTCH1 RET
42 adenoma 11.0 MEN1 MLH1 MSH2 RET
43 familial adenomatous polyposis 10.9 MLH1 MSH2 MSH6
44 polycystic kidney disease 1 with or without polycystic liver disease 10.9 CFTR PKD1 PKD2 PKDREJ PRKD1
45 autosomal dominant polycystic kidney disease 10.9 CFTR PKD1 PKD2 PKDREJ PRKD1
46 neurofibromatosis, type iv, of riccardi 10.9 MSH6 NF1 NF2 PMS2 RET
47 hemoglobin e disease 10.9 HBB HBE1
48 xfe progeroid syndrome 10.9 ERCC1 WRN
49 intracranial berry aneurysm 10.9 NF1 PKD1
50 polycystic kidney disease 10.9 PKD1 PKD2 PKDREJ

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 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.15 PKD2 PMS2 PTCH1 ERCC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.15 MSH2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.15 MSH2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.15 PMS2 ERCC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.15 PKD2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.15 ERCC1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.15 MSH2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.15 PMS2 PTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.15 PMS2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.15 PTCH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.15 PMS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.15 MSH2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.15 PKD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.15 MSH2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.15 MSH2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.15 PMS2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.15 PKD2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.15 MSH2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.15 PMS2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.15 PKD2 PMS2 PTCH1 ERCC1 MSH2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.15 PTCH1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.15 ERCC1
23 Increased cell migration GR00055-A-3 9.56 NF1 NF2 PKD1 PKD2
24 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.28 ERCC1 MEN1 MLH1 MSH2 MSH6 PKD2
25 Increased proliferation GR00094-A 9.16 MEN1 NF2

MGI Mouse Phenotypes related to Autosomal Genetic Disease:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.4 ABCC6 CFTR ERCC1 MEN1 MLH1 MSH2
2 cellular MP:0005384 10.39 ERCC1 MEN1 MLH1 MSH2 MSH6 NF1
3 endocrine/exocrine gland MP:0005379 10.35 WRN XPA CFTR ERCC1 MEN1 MLH1
4 immune system MP:0005387 10.32 NF1 NF2 PKD1 PKD2 PMS2 PTCH1
5 mortality/aging MP:0010768 10.31 MSH2 MSH6 NF1 NF2 PKD1 PKD2
6 digestive/alimentary MP:0005381 10.3 CFTR MEN1 MLH1 MSH2 NF1 PKD1
7 hematopoietic system MP:0005397 10.29 CFTR ERCC1 MSH2 MSH6 NF1 PKD1
8 growth/size/body region MP:0005378 10.26 CFTR ERCC1 MEN1 NF1 NF2 PKD1
9 cardiovascular system MP:0005385 10.24 ABCC6 MEN1 NF1 PKD1 PKD2 PRKD1
10 integument MP:0010771 10.2 ABCC6 ERCC1 MLH1 MSH2 MSH6 NF1
11 craniofacial MP:0005382 10.17 NF2 PKD1 PTCH1 WRN XPA CFTR
12 embryo MP:0005380 10.15 ERCC1 MEN1 NF1 NF2 PKD1 PKD2
13 neoplasm MP:0002006 10.13 ERCC1 MEN1 MLH1 MSH2 MSH6 NF1
14 liver/biliary system MP:0005370 10.09 CFTR ERCC1 MEN1 NF1 NF2 PKD1
15 muscle MP:0005369 9.97 ERCC1 MEN1 NF1 PKD1 XPA PRKD1
16 reproductive system MP:0005389 9.93 CFTR ERCC1 MEN1 MLH1 NF2 PKD1
17 renal/urinary system MP:0005367 9.86 ABCC6 ERCC1 NF1 NF2 PKD1 PKD2
18 respiratory system MP:0005388 9.56 CFTR MLH1 NF1 NF2 PKD1 PKD2
19 vision/eye MP:0005391 9.23 ABCC6 CFTR MLH1 NF1 NF2 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 9.58 PKD1 PKD2 PTCH1
2 hemoglobin complex GO:0005833 9.43 HBB HBE1
3 MutSalpha complex GO:0032301 9.32 MSH2 MSH6
4 nucleotide-excision repair factor 1 complex GO:0000110 9.26 ERCC1 XPA
5 polycystin complex GO:0002133 9.16 PKD1 PKD2
6 MutLalpha complex GO:0032389 9.13 MLH1 PMS2 WRN
7 mismatch repair complex GO:0032300 8.92 MLH1 MSH2 MSH6 PMS2
8 nucleus GO:0005634 10.24 ABCC6 CFTR ERCC1 MEN1 MLH1 MSH2

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.98 ABCC6 PMS2 PTCH1 RET
2 regulation of cell proliferation GO:0042127 9.96 NF1 NF2 PKD2 PTCH1
3 brain development GO:0007420 9.91 MEN1 NF1 NF2 PTCH1 WRN
4 cellular response to DNA damage stimulus GO:0006974 9.86 ERCC1 MEN1 MLH1 MSH2 MSH6 PMS2
5 liver development GO:0001889 9.84 NF1 PKD1 PKD2
6 double-strand break repair GO:0006302 9.8 ERCC1 MSH2 WRN
7 response to UV GO:0009411 9.76 MEN1 MSH6 XPA
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.73 MLH1 MSH2 MSH6 XPA
9 neural tube development GO:0021915 9.72 NF1 PKD1 PKD2
10 mismatch repair GO:0006298 9.71 MLH1 MSH2 MSH6 PMS2
11 spinal cord development GO:0021510 9.7 NF1 PKD1 PKD2
12 multicellular organism aging GO:0010259 9.68 ERCC1 WRN
13 oxygen transport GO:0015671 9.68 HBB HBE1
14 placenta blood vessel development GO:0060674 9.67 PKD1 PKD2
15 UV protection GO:0009650 9.67 ERCC1 XPA
16 determination of adult lifespan GO:0008340 9.67 MSH2 MSH6
17 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.65 NF1 RET
18 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.65 ABCC6 CFTR
19 cytoplasmic sequestering of transcription factor GO:0042994 9.65 PKD1 PKD2
20 renal system development GO:0072001 9.65 PKD1 PKD2 PTCH1
21 t-circle formation GO:0090656 9.64 ERCC1 WRN
22 UV-damage excision repair GO:0070914 9.64 ERCC1 XPA
23 positive regulation of isotype switching to IgG isotypes GO:0048304 9.63 MLH1 MSH2
24 detection of mechanical stimulus GO:0050982 9.63 PKD1 PKD2 PKDREJ
25 mesonephric tubule development GO:0072164 9.62 PKD1 PKD2
26 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.61 PKD1 PKD2
27 positive regulation of helicase activity GO:0051096 9.61 MSH2 MSH6
28 mesonephric duct development GO:0072177 9.6 PKD1 PKD2
29 negative regulation of DNA recombination GO:0045910 9.59 MSH2 MSH6
30 replicative cell aging GO:0001302 9.58 ERCC1 WRN
31 maintenance of DNA repeat elements GO:0043570 9.57 MSH2 MSH6
32 positive regulation of isotype switching to IgA isotypes GO:0048298 9.56 MLH1 MSH2
33 metanephric ascending thin limb development GO:0072218 9.54 PKD1 PKD2
34 somatic recombination of immunoglobulin gene segments GO:0016447 9.54 MLH1 MSH2 MSH6
35 meiotic mismatch repair GO:0000710 9.5 ERCC1 MSH2 MSH6
36 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.49 MLH1 MSH2
37 somatic hypermutation of immunoglobulin genes GO:0016446 9.46 MLH1 MSH2 MSH6 PMS2
38 isotype switching GO:0045190 9.26 ERCC1 MLH1 MSH2 MSH6
39 DNA repair GO:0006281 9.23 ERCC1 MEN1 MLH1 MSH2 MSH6 PMS2
40 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 18)
# Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 9.8 ERCC1 MLH1 MSH2 PMS2
2 calcium channel activity GO:0005262 9.75 PKD1 PKD2 PKDREJ
3 damaged DNA binding GO:0003684 9.71 ERCC1 MSH2 MSH6 XPA
4 oxygen carrier activity GO:0005344 9.57 HBB HBE1
5 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.56 ABCC6 CFTR
6 oxidized purine DNA binding GO:0032357 9.55 MSH2 MSH6
7 MutLalpha complex binding GO:0032405 9.54 MSH2 MSH6
8 Y-form DNA binding GO:0000403 9.54 MEN1 MSH2 WRN
9 MutSalpha complex binding GO:0032407 9.52 MLH1 PMS2
10 single guanine insertion binding GO:0032142 9.51 MSH2 MSH6
11 guanine/thymine mispair binding GO:0032137 9.5 MLH1 MSH2 MSH6
12 ATPase activity GO:0016887 9.5 ABCC6 CFTR MLH1 MSH2 MSH6 PMS2
13 single thymine insertion binding GO:0032143 9.48 MSH2 MSH6
14 four-way junction DNA binding GO:0000400 9.46 MEN1 MSH2 MSH6 WRN
15 single base insertion or deletion binding GO:0032138 9.43 MSH2 MSH6 PMS2
16 mismatched DNA binding GO:0030983 8.92 MLH1 MSH2 MSH6 PMS2
17 protein binding GO:0005515 10.41 CFTR ERCC1 HBB HBE1 MEN1 MLH1
18 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
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
Content
Loading form....