MCID: ATS008
MIFTS: 43

Autosomal Dominant Disease

Categories: Genetic diseases

Aliases & Classifications for Autosomal Dominant Disease

MalaCards integrated aliases for Autosomal Dominant Disease:

Name: Autosomal Dominant Disease 12 15
Autosomal Dominant Disorder 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050736

Summaries for Autosomal Dominant Disease

Disease Ontology : 12 An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.

MalaCards based summary : Autosomal Dominant Disease, also known as autosomal dominant disorder, is related to colorectal cancer, hereditary nonpolyposis, type 7 and colorectal cancer, hereditary nonpolyposis, type 4. An important gene associated with Autosomal Dominant Disease is ALX4 (ALX Homeobox 4), and among its related pathways/superpathways are Pathways in cancer and Wnt / Hedgehog / Notch. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autosomal Dominant Disease

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

(show top 50) (show all 396)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer, hereditary nonpolyposis, type 7 31.7 MLH1 MLH3 MSH2
2 colorectal cancer, hereditary nonpolyposis, type 4 31.7 MLH1 MSH2 PMS2
3 colorectal cancer, hereditary nonpolyposis, type 5 31.7 MLH1 MSH2 MSH6
4 muir-torre syndrome 31.6 MLH1 MSH2 MSH6 PMS2
5 lynch syndrome i 31.5 EPCAM MLH1 MSH2 MSH6 PMS2
6 lynch syndrome 31.3 EPCAM MLH1 MLH3 MSH2 MSH6 PMS2
7 aromatase excess syndrome 11.2
8 polycystic kidney disease 1 with or without polycystic liver disease 11.1
9 storm syndrome 11.0
10 polycystic kidney disease 2 with or without polycystic liver disease 10.9
11 ataxia-pancytopenia syndrome 10.9
12 beare-stevenson cutis gyrata syndrome 10.8
13 anterior segment dysgenesis 4 10.8
14 glucocorticoid resistance, generalized 10.8
15 acromicric dysplasia 10.8
16 palmoplantar keratoderma and congenital alopecia 1 10.8
17 angioedema, hereditary, type i 10.8
18 blepharocheilodontic syndrome 1 10.8
19 erythrocytosis, familial, 1 10.8
20 renal cysts and diabetes syndrome 10.8
21 hypercholesterolemia, familial 10.8
22 pallister-hall syndrome 10.8
23 insulinomatosis and diabetes mellitus 10.8
24 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.8
25 neurofibromatosis, type i 10.8
26 osseous heteroplasia, progressive 10.8
27 peutz-jeghers syndrome 10.8
28 porphyria cutanea tarda 10.8
29 liddle syndrome 1 10.8
30 axenfeld-rieger syndrome, type 1 10.8
31 singleton-merten syndrome 1 10.8
32 bleeding disorder, platelet-type, 17 10.8
33 glomerulopathy with fibronectin deposits 2 10.8
34 welander distal myopathy 10.8
35 hyperaldosteronism, familial, type ii 10.8
36 late-onset retinal degeneration 10.8
37 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 10.8
38 erythrocytosis, familial, 4 10.8
39 bosch-boonstra-schaaf optic atrophy syndrome 10.8
40 culler-jones syndrome 10.8
41 autoinflammation with infantile enterocolitis 10.8
42 thrombocytopenia 5 10.8
43 immunodeficiency 11b with atopic dermatitis 10.8
44 neurodevelopmental disorder with poor language and loss of hand skills 10.8
45 capillary malformation-arteriovenous malformation 2 10.8
46 achondroplasia 10.7
47 adult syndrome 10.7
48 ankyloblepharon-ectodermal defects-cleft lip/palate 10.7
49 townes-brocks syndrome 1 10.7
50 basal cell nevus syndrome 10.7

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



Diseases related to Autosomal Dominant Disease

Symptoms & Phenotypes for Autosomal Dominant Disease

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

27 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.39 PMS2 PTCH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.39 FGFR3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.39 MSH2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.39 FGFR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.39 EPCAM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.39 MSH2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.39 EPCAM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.39 PMS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.39 EPCAM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.39 EPCAM MSH2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.39 PMS2 PTCH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.39 PMS2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.39 PTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.39 PMS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.39 MSH2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.39 EPCAM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.39 MSH2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.39 MSH2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.39 PMS2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.39 FGFR3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.39 MSH2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.39 PMS2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.39 EPCAM FGFR3 MSH2 PMS2 PTCH1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.39 EPCAM PTCH1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.39 FGFR3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.39 EPCAM
27 no effect GR00402-S-1 10.26 ABCC8 ALX4 COL2A1 EFEMP1 EPCAM FGFR3
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.23 TGFBR2
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.23 TGFBR2
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.23 EPCAM
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.23 TGFBR2
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.23 TGFBR2
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.23 SALL1
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.23 SALL1 TGFBR2
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.23 EFEMP1
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.23 SALL1
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.23 EFEMP1 SALL1
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.23 EFEMP1 EPCAM SALL1 TGFBR2
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 10.23 EPCAM
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.23 TGFBR2
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.23 TGFBR2
42 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.1 HMBS MLH1 MLH3 MSH6 PMS2 SALL1

MGI Mouse Phenotypes related to Autosomal Dominant Disease:

47 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 COL2A1 EPCAM FGFR3 GJB2 JAG1 MLH1
2 homeostasis/metabolism MP:0005376 10.49 ABCC8 COL2A1 EFEMP1 EPCAM FGFR3 GJB2
3 digestive/alimentary MP:0005381 10.48 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 JAG1
4 mortality/aging MP:0010768 10.45 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 GJB2
5 behavior/neurological MP:0005386 10.44 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 HMBS
6 growth/size/body region MP:0005378 10.4 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 GJB2
7 immune system MP:0005387 10.39 COL2A1 EFEMP1 EPCAM FGFR3 GJB2 MLH1
8 endocrine/exocrine gland MP:0005379 10.37 ABCC8 EFEMP1 EPCAM JAG1 MLH1 MLH3
9 cardiovascular system MP:0005385 10.36 COL2A1 EFEMP1 EPCAM GJB2 JAG1 PAX3
10 hematopoietic system MP:0005397 10.35 EFEMP1 EPCAM FGFR3 JAG1 MLH1 MSH2
11 embryo MP:0005380 10.34 ALX4 COL2A1 EPCAM GJB2 JAG1 PAX3
12 craniofacial MP:0005382 10.31 ALX4 COL2A1 FGFR3 GJB2 JAG1 PAX3
13 integument MP:0010771 10.28 ALX4 EFEMP1 FGFR3 GJB2 JAG1 MLH1
14 nervous system MP:0003631 10.28 ALX4 COL2A1 EPCAM FGFR3 GJB2 HMBS
15 hearing/vestibular/ear MP:0005377 10.18 COL2A1 FGFR3 GJB2 JAG1 PAX3 PTCH1
16 limbs/digits/tail MP:0005371 10.18 ALX4 COL2A1 FGFR3 GJB2 PAX3 PITX2
17 normal MP:0002873 10.18 ALX4 COL2A1 EFEMP1 FGFR3 GJB2 HMBS
18 muscle MP:0005369 10.13 ALX4 EFEMP1 HMBS JAG1 PAX3 PITX2
19 liver/biliary system MP:0005370 10.11 COL2A1 EFEMP1 JAG1 PAX3 PITX2 PMS2
20 neoplasm MP:0002006 10.11 FGFR3 MLH1 MSH2 MSH6 PAX3 PMS2
21 no phenotypic analysis MP:0003012 10.06 ABCC8 EPCAM FGFR3 GJB2 JAG1 PAX3
22 renal/urinary system MP:0005367 9.97 COL2A1 EFEMP1 FGFR3 HMBS JAG1 PAX3
23 reproductive system MP:0005389 9.91 EFEMP1 FGFR3 GJB2 MLH1 MLH3 PITX2
24 respiratory system MP:0005388 9.81 ALX4 COL2A1 FGFR3 MLH1 PAX3 PITX2
25 skeleton MP:0005390 9.73 ALX4 COL2A1 EFEMP1 FGFR3 GJB2 JAG1
26 vision/eye MP:0005391 9.4 ALX4 COL2A1 EFEMP1 FGFR3 GJB2 JAG1

Drugs & Therapeutics for Autosomal Dominant Disease

Drugs for Autosomal Dominant Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3 Dopamine Agents Phase 4
4 Neurotransmitter Uptake Inhibitors Phase 4
5 Neurotransmitter Agents Phase 4
6 Dopamine Uptake Inhibitors Phase 4
7 Central Nervous System Stimulants Phase 4
8
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
9
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 6436030 5284616
10
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
11 Antifungal Agents Phase 3
12 Immunologic Factors Phase 3,Phase 2,Phase 1
13 Antibiotics, Antitubercular Phase 3,Phase 1
14 Immunosuppressive Agents Phase 3,Phase 2
15 Anti-Infective Agents Phase 3,Phase 2
16 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
17 Angiogenesis Modulating Agents Phase 2
18 Angiogenesis Inhibitors Phase 2
19
Aclarubicin Investigational Phase 1 57576-44-0 451415
20 Aclacinomycins Phase 1
21 Topoisomerase Inhibitors Phase 1
22 Adjuvants, Immunologic Phase 1
23
Ethanol Approved 64-17-5 702
24
Curcumin Approved, Experimental, Investigational Not Applicable 458-37-7 969516
25 Sunflower Not Applicable
26 Soy Bean Not Applicable
27 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
28 Anti-Inflammatory Agents Not Applicable
29 Peripheral Nervous System Agents Not Applicable
30 Cola Not Applicable
31 Analgesics Not Applicable
32 Antirheumatic Agents Not Applicable
33 Analgesics, Non-Narcotic Not Applicable

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4 methylphenidate
2 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
3 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
4 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Active, not recruiting NCT02723448 Phase 1 aclarubicin
5 Effect of Rapeseed Oil and Sunflower Oil Unknown status NCT00924274 Not Applicable
6 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial Unknown status NCT02861911 Not Applicable
7 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Unknown status NCT02520856
8 Soy Food Intervention Trial Unknown status NCT00924339 Not Applicable
9 Hereditary AngioEdema, Neurobiology and Psychopathology Unknown status NCT02159430
10 Analysis of Peripheral Nerve Sheath Tumors (PNSTs) in Neurofibromatosis Type 1 (NF1) Patients Unknown status NCT01218139
11 Microarray CGH Analysis of Circulating Tumoral Plasma DNA in NF1 Patients With MPNSTs Unknown status NCT01218152
12 Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial Recruiting NCT02948179 Not Applicable
13 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
14 Longitudinal Studies of Patient With FPDMM Recruiting NCT03854318
15 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
16 Growth and Development of the Striatum in Huntington's Disease Enrolling by invitation NCT01860339
17 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
18 Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom Completed NCT03009188
19 Effects of Soy Protein on Cholesterol Levels in Children Affected With Familial Hypercholesterolemia Completed NCT03563547 Not Applicable
20 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236
21 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Not Applicable Calcumin (Curcumin)
22 Type 1 Multiple Endocrine Neoplasia Cohort Study Recruiting NCT03262129
23 Analysis of NF2 Mutations in Radiation-Related Neural Tumors Completed NCT00340496

Search NIH Clinical Center for Autosomal Dominant Disease

Genetic Tests for Autosomal Dominant Disease

Anatomical Context for Autosomal Dominant Disease

MalaCards organs/tissues related to Autosomal Dominant Disease:

42
Kidney, Skin

Publications for Autosomal Dominant Disease

Articles related to Autosomal Dominant Disease:

(show all 25)
# Title Authors Year
1
Comparative analysis of the two extremes of <i>FLNB</i>-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings. ( 29887954 )
2018
2
Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review. ( 29375286 )
2017
3
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. ( 27539938 )
2016
4
High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern Newfoundland. ( 21959335 )
2012
5
Apparent homozygosity for p.E1841K mutation in a patient with MYH9-related disorder: a misdiagnosis for an autosomal dominant disorder? ( 22211851 )
2012
6
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. ( 21224835 )
2011
7
Pseudo-likelihood estimates of the cumulative risk of an autosomal dominant disease from a kin-cohort study. ( 11180447 )
2001
8
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. ( 9521591 )
1998
9
A unique autosomal dominant disorder with indifference to pain: clinicopathologic correlation of indifference to pain and thalamic gliosis. ( 9748671 )
1998
10
Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay--a new autosomal dominant disorder? ( 9134293 )
1997
11
Newly recognized autosomal dominant disorder with craniosynostosis. ( 8357019 )
1993
12
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. ( 1978558 )
1990
13
Ichthyosis follicularis in two girls: an autosomal dominant disorder. ( 1706858 )
1990
14
Genetic analysis of familial amyloidotic polyneuropathy, an autosomal dominant disease. ( 2559819 )
1989
15
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. ( 2725645 )
1989
16
Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder. ( 3352913 )
1988
17
Ichthyosis-cheek-eyebrow (ICE) syndrome: a new autosomal dominant disorder. ( 3568439 )
1987
18
Familial neonatal and infantile seizures: an autosomal-dominant disorder. ( 6476007 )
1984
19
The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors. ( 7079022 )
1982
20
[Hereditary chronic pancreatitis: an autosomal dominant disease (author's transl)]. ( 227088 )
1979
21
Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorder. ( 758579 )
1979
22
A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. ( 890102 )
1977
23
Familial hyperglucagonemia--an autosomal dominant disorder. ( 189188 )
1977
24
Hereditary phlebectasis of the lips. An autosomal dominant disorder. ( 1275529 )
1976
25
Complete failure of eruption of all permanent teeth: an autosomal dominant disorder. ( 4851123 )
1974

Variations for Autosomal Dominant Disease

Expression for Autosomal Dominant Disease

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

Pathways for Autosomal Dominant Disease

GO Terms for Autosomal Dominant Disease

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

# Name GO ID Score Top Affiliating Genes
1 male germ cell nucleus GO:0001673 9.32 MLH1 MLH3
2 MutSalpha complex GO:0032301 9.26 MSH2 MSH6
3 chiasma GO:0005712 9.16 MLH1 MLH3
4 MutLalpha complex GO:0032389 9.13 MLH1 MLH3 PMS2
5 mismatch repair complex GO:0032300 9.02 MLH1 MLH3 MSH2 MSH6 PMS2

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 ABCC8 PMS2 PTCH1 TGFBR2
2 DNA repair GO:0006281 9.96 MLH1 MLH3 MSH2 MSH6 PMS2
3 regulation of cell proliferation GO:0042127 9.88 JAG1 PTCH1 SHH TGFBR2
4 roof of mouth development GO:0060021 9.8 ALX4 COL2A1 SHH
5 smoothened signaling pathway GO:0007224 9.8 PTCH1 SHH TGFBR2
6 animal organ morphogenesis GO:0009887 9.78 JAG1 PAX3 PTCH1 TGFBR2
7 embryonic digit morphogenesis GO:0042733 9.77 ALX4 SALL1 SHH
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.74 MLH1 MSH2 MSH6
9 branching involved in ureteric bud morphogenesis GO:0001658 9.7 PTCH1 SALL1 SHH
10 cell fate determination GO:0001709 9.67 JAG1 PTCH1
11 camera-type eye development GO:0043010 9.67 EFEMP1 JAG1 PITX2 SHH
12 negative regulation of DNA recombination GO:0045910 9.66 MSH2 MSH6
13 somite development GO:0061053 9.66 PTCH1 SHH
14 determination of adult lifespan GO:0008340 9.65 MSH2 MSH6
15 prostate gland development GO:0030850 9.65 PTCH1 SHH
16 dorsal/ventral neural tube patterning GO:0021904 9.65 PTCH1 SHH
17 limb bud formation GO:0060174 9.64 COL2A1 SHH
18 positive regulation of isotype switching to IgG isotypes GO:0048304 9.63 MLH1 MSH2
19 positive regulation of helicase activity GO:0051096 9.62 MSH2 MSH6
20 pattern specification process GO:0007389 9.62 ALX4 PTCH1 SHH TGFBR2
21 lung lobe morphogenesis GO:0060463 9.61 SHH TGFBR2
22 limb morphogenesis GO:0035108 9.61 ALX4 COL2A1 PTCH1
23 isotype switching GO:0045190 9.58 MLH1 MSH2 MSH6
24 inner ear development GO:0048839 9.56 COL2A1 GJB2 JAG1 SHH
25 maintenance of DNA repeat elements GO:0043570 9.55 MSH2 MSH6
26 positive regulation of isotype switching to IgA isotypes GO:0048298 9.54 MLH1 MSH2
27 trachea morphogenesis GO:0060439 9.49 SHH TGFBR2
28 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.46 MLH1 MSH2
29 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
30 pyrimidine dimer repair GO:0006290 9.3 MSH6
31 replication fork arrest GO:0043111 9.28 MSH6
32 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
33 meiotic mismatch repair GO:0000710 9.21 MSH6
34 mismatch repair GO:0006298 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
35 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 ALX4 EPCAM JAG1 PAX3 PITX2 SALL1
36 cellular response to DNA damage stimulus GO:0006974 10.04 MLH1 MLH3 MSH2 MSH6 PMS2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.63 ABCC8 MLH1 MLH3 MSH2 MSH6 PMS2
2 HMG box domain binding GO:0071837 9.54 ALX4 PAX3
3 four-way junction DNA binding GO:0000400 9.52 MSH2 MSH6
4 patched binding GO:0005113 9.51 PTCH1 SHH
5 centromeric DNA binding GO:0019237 9.49 MLH3 MSH2
6 MutLalpha complex binding GO:0032405 9.48 MSH2 MSH6
7 MutSalpha complex binding GO:0032407 9.46 MLH1 PMS2
8 oxidized purine DNA binding GO:0032357 9.43 MSH2 MSH6
9 single-stranded DNA binding GO:0003697 9.43 MLH1 MSH2 PMS2
10 single thymine insertion binding GO:0032143 9.37 MSH2 MSH6
11 single guanine insertion binding GO:0032142 9.32 MSH2 MSH6
12 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
13 mismatched DNA binding GO:0030983 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
14 ATP binding GO:0005524 10.01 ABCC8 FGFR3 MLH1 MLH3 MSH2 MSH6

Sources for Autosomal Dominant 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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