MCID: ATS008
MIFTS: 39

Autosomal Dominant Disease malady

Categories: Genetic diseases

Aliases & Classifications for Autosomal Dominant Disease

Aliases & Descriptions for Autosomal Dominant Disease:

Name: Autosomal Dominant Disease 12 14
Autosomal Dominant Disorder 14 69

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 2 and aromatase excess syndrome. An important gene associated with Autosomal Dominant Disease is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Pathways in cancer and Endometrial cancer. The drugs Candesartan and Miconazole have been mentioned in the context of this disorder. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and homeostasis/metabolism

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 127)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer, hereditary nonpolyposis, type 2 30.4 PKD1 PKD2 PTCH1 SHH
2 aromatase excess syndrome 10.9
3 polycystic kidney disease, adult type i 10.8
4 episodic ataxia 10.8
5 storm syndrome 10.7
6 epstein syndrome 10.7
7 polycystic kidney disease 2 10.6
8 iridogoniodysgenesis, type 2 10.6
9 glucocorticoid resistance 10.6
10 porphyria cutanea tarda 10.6
11 peutz-jeghers syndrome 10.6
12 adult syndrome 10.5
13 trichorhinophalangeal syndrome, type ii 10.5
14 keratitis-ichthyosis-deafness syndrome 10.5
15 duane-radial ray syndrome 10.5
16 proximal symphalangism 10.5
17 skin creases, congenital symmetric circumferential, 2 10.5
18 rapp-hodgkin syndrome 10.5
19 trichorhinophalangeal syndrome, type i 10.5
20 brain small vessel disease with or without ocular anomalies 10.5
21 mccune-albright syndrome, somatic, mosaic 10.5
22 cold-induced sweating syndrome 10.5
23 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 10.5
24 hypochondroplasia 10.5
25 venous malformations, multiple cutaneous and mucosal 10.5
26 colorectal cancer, hereditary nonpolyposis, type 7 10.5
27 platelet disorder, familial, with associated myeloid malignancy 10.5
28 eec syndrome 10.5
29 periventricular nodular heterotopia 7 10.5
30 ladd syndrome 10.5
31 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 10.5
32 skin creases, congenital symmetric circumferential, 1 10.5
33 bone marrow failure syndrome 1 10.5
34 multiple endocrine neoplasia iia 10.5
35 rubinstein-taybi syndrome 10.5
36 feingold syndrome 10.5
37 basal cell nevus syndrome 10.5
38 multiple endocrine neoplasia iib 10.5
39 colorectal cancer, hereditary nonpolyposis, type 1 10.5
40 popliteal pterygium syndrome 1 10.5
41 macrocephaly/autism syndrome 10.5
42 blau syndrome 10.5
43 doyne honeycomb degeneration of retina 10.5
44 colorectal cancer, hereditary nonpolyposis, type 8 10.5
45 pseudohypoaldosteronism, type iid 10.5
46 beare-stevenson cutis gyrata syndrome 10.5
47 townes-brocks syndrome 10.5
48 hand-foot-uterus syndrome 10.5
49 lynch syndrome 10.5
50 colorectal cancer, hereditary nonpolyposis, type 5 10.5

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:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.51 MLH1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.51 TGFBR2 ABCC8 MLH1 NFKBIA PMS2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.51 MLH1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.51 PMS2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.51 TGFBR2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.51 PMS2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.51 TGFBR2 NFKBIA PMS2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.51 TGFBR2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.51 ABCC8 NFKBIA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.51 NFKBIA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.51 MLH1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.51 TGFBR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.51 MLH1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.51 NFKBIA
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.51 PMS2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.51 NFKBIA
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.51 TGFBR2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.51 PMS2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.51 TGFBR2 NFKBIA
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 10.51 NFKBIA
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.51 TGFBR2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.51 TGFBR2
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.51 PMS2
24 Increased cell migration GR00055-A-3 9.56 NF1 NF2 PKD1 PKD2
25 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.5 PMS2 MEN1 MLH1 MLH3 MSH2 MSH6
26 Increased proliferation GR00094-A 9.16 MEN1 NF2
27 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.1 HMBS MLH1 MLH3 MSH6 PKD1 PMS2

MGI Mouse Phenotypes related to Autosomal Dominant Disease:

44 (show all 23)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.51 SHH TGFBR2 ABCC8 CRYBA1 HMBS MEN1
2 cellular MP:0005384 10.49 NF1 NFKBIA PAX3 PITX2 PKD1 PKD2
3 endocrine/exocrine gland MP:0005379 10.46 NFKBIA PAX3 PITX2 PKD1 PKD2 PMS2
4 mortality/aging MP:0010768 10.42 MSH2 MSH6 NF1 NF2 NFKBIA PAX3
5 digestive/alimentary MP:0005381 10.41 PKD2 PMS2 PTCH1 SHH TGFBR2 ALX4
6 immune system MP:0005387 10.36 MEN1 MSH2 NF1 NF2 NFKBIA PAX3
7 growth/size/body region MP:0005378 10.35 SHH TGFBR2 ALX4 MEN1 NF1 NF2
8 embryo MP:0005380 10.33 ALX4 PTCH1 SHH TGFBR2 MEN1 NF1
9 craniofacial MP:0005382 10.3 ALX4 MEN1 NF1 NF2 PAX3 PITX2
10 integument MP:0010771 10.28 ALX4 MLH1 MSH2 MSH6 NF1 NF2
11 hematopoietic system MP:0005397 10.27 MSH2 NF1 NFKBIA PAX3 PITX2 PKD1
12 nervous system MP:0003631 10.25 ALX4 CRYBA1 HMBS MEN1 MSH2 NF1
13 neoplasm MP:0002006 10.23 MEN1 MLH1 MSH2 MSH6 NF1 NF2
14 muscle MP:0005369 10.18 ALX4 HMBS MEN1 NF1 PAX3 PITX2
15 liver/biliary system MP:0005370 10.16 MEN1 NF1 NF2 PAX3 PITX2 PKD1
16 normal MP:0002873 10.14 PAX3 PITX2 PKD1 PKD2 PTCH1 SHH
17 limbs/digits/tail MP:0005371 10.07 ALX4 NF1 PAX3 PITX2 PKD1 PTCH1
18 renal/urinary system MP:0005367 9.92 PKD2 PTCH1 SHH HMBS NF1 NF2
19 reproductive system MP:0005389 9.91 PKD1 PMS2 PTCH1 SHH MEN1 MLH1
20 respiratory system MP:0005388 9.9 ALX4 MLH1 NF1 NF2 PAX3 PITX2
21 pigmentation MP:0001186 9.77 CRYBA1 NF1 PAX3 PITX2 PTCH1
22 skeleton MP:0005390 9.61 ALX4 NF1 NF2 PAX3 PITX2 PKD1
23 vision/eye MP:0005391 9.32 ALX4 SHH TGFBR2 CRYBA1 MLH1 NF1

Drugs & Therapeutics for Autosomal Dominant Disease

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

(show top 50) (show all 218)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Candesartan Approved Phase 4,Phase 2 139481-59-7 2541
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
3
Cilnidipine Approved Phase 4,Phase 2 132203-70-4 5282138
4
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
5
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
6
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
7
Celiprolol Approved, Investigational Phase 4 56980-93-9
8
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
9
Angiotensin II Phase 4,Phase 3,Phase 2 68521-88-0, 11128-99-7 65143 172198
10
Candesartan cilexetil Phase 4,Phase 2 145040-37-5 2540
11 calcium channel blockers Phase 4,Phase 3,Phase 2
12 Adrenergic Agents Phase 4,Phase 3
13 Adrenergic Antagonists Phase 4,Phase 3
14 Adrenergic alpha-Antagonists Phase 4
15 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 3
16 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
17 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
18 Angiotensinogen Phase 4,Phase 3,Phase 2
19 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Antihypertensive Agents Phase 4,Phase 3,Phase 2
24 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
25 Antirheumatic Agents Phase 4,Phase 2,Phase 1
26 Calcium, Dietary Phase 4,Phase 3,Phase 2
27 Analgesics Phase 4,Phase 2
28 Adrenergic beta-1 Receptor Antagonists Phase 4,Phase 3
29 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
30 Adrenergic beta-Antagonists Phase 4,Phase 3
31 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3
32 Analgesics, Non-Narcotic Phase 4,Phase 2
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
34 Dopamine Agents Phase 4,Phase 3,Phase 2
35 Vasodilator Agents Phase 4,Phase 3,Phase 2
36 Dopamine Uptake Inhibitors Phase 4
37 Anti-Arrhythmia Agents Phase 4,Phase 3
38 Anti-Inflammatory Agents Phase 4,Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2
40 Autonomic Agents Phase 4,Phase 3,Phase 2
41 Central Nervous System Stimulants Phase 4
42
Curcumin Phase 4 458-37-7 969516
43
lanreotide Approved Phase 2, Phase 3 108736-35-2
44
Clonidine Approved Phase 3 4205-90-7 2803
45
Pravastatin Approved Phase 3 81093-37-0 54687
46
Minoxidil Approved Phase 3 38304-91-5 4201
47
Lisinopril Approved, Investigational Phase 3 83915-83-7 5362119
48
Hydrochlorothiazide Approved, Vet_approved Phase 3,Phase 2 58-93-5 3639
49
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
50
Hydralazine Approved Phase 3 86-54-4 3637

Interventional clinical trials:

(show top 50) (show all 216)
id Name Status NCT ID Phase
1 CCB Safety Study in Treatment of Hypertension of ADPKD Unknown status NCT00541853 Phase 4
2 Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00414440 Phase 4
3 PROTECT Continued Access Post Marketing Surveillance Trial Completed NCT00846846 Phase 4
4 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4
5 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4
6 Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults With ADPKD Recruiting NCT02494141 Phase 4
7 Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3
8 Sirolimus for Massive Polycystic Liver Unknown status NCT01680250 Phase 2, Phase 3
9 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3
10 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00456365 Phase 3
11 Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00346918 Phase 3
12 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002] Completed NCT01022424 Phase 3
13 A Study to Investigate the Long-term Safety and Efficacy of Tolvaptan in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Trial 156-04-251 in Japan] Completed NCT01280721 Phase 3
14 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
15 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3
16 Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study Completed NCT00309283 Phase 3
17 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3
18 Tolvaptan Phase 3 Efficacy and Safety Study in ADPKD Completed NCT00428948 Phase 3
19 Effects of Somatostatin on ADPKD Heart Completed NCT02119013 Phase 2, Phase 3
20 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study B Completed NCT01885559 Phase 3
21 HALT Progression of Polycystic Kidney Disease (HALT PKD) Study A Completed NCT00283686 Phase 3
22 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3
23 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3
24 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3
25 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3
26 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
27 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3
28 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
29 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3
30 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3
31 Efficacy and Safety of Tolvaptan in Cirrhotic Patients With Hyponatremia Completed NCT01850940 Phase 3
32 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Completed NCT00694109 Phase 3
33 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Completed NCT00607373 Phase 3
34 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3
35 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Recruiting NCT02964273 Phase 3
36 The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients Recruiting NCT02134899 Phase 3
37 Lanreotide In Polycystic Kidney Disease Study Recruiting NCT02127437 Phase 3
38 Neuroleptic and Huntington Disease Comparison of : Olanzapine, la Tetrabenazine and Tiapride Recruiting NCT00632645 Phase 3
39 Efficacy and Safety of Tolvaptan in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02160145 Phase 3
40 Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency Active, not recruiting NCT01377246 Phase 3
41 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3
42 Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. Active, not recruiting NCT01760005 Phase 2, Phase 3
43 Open-label Trial to Evaluate the Long Term Safety of Titrated Immediate-release Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Enrolling by invitation NCT02251275 Phase 3
44 Effects of Amlodipine and Other Blood Pressure Lowering Agents on Microvascular Function Not yet recruiting NCT03082014 Phase 3
45 Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency Terminated NCT01223755 Phase 2, Phase 3
46 Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD): The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3
47 PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors Terminated NCT01583114 Phase 3
48 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3
49 Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control Unknown status NCT01932450 Phase 2
50 Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Unknown status NCT00890279 Phase 2

Search NIH Clinical Center for Autosomal Dominant Disease

Genetic Tests for Autosomal Dominant Disease

Anatomical Context for Autosomal Dominant Disease

Publications for Autosomal Dominant Disease

Articles related to Autosomal Dominant Disease:

id Title Authors Year
1
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. ( 27539938 )
2016
2
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES). ( 22981789 )
2012
3
High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern Newfoundland. ( 21959335 )
2012
4
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. ( 21224835 )
2011
5
Pseudo-likelihood estimates of the cumulative risk of an autosomal dominant disease from a kin-cohort study. ( 11180447 )
2001
6
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. ( 9521591 )
1998
7
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. ( 1978558 )
1990
8
Genetic analysis of familial amyloidotic polyneuropathy, an autosomal dominant disease. ( 2559819 )
1989

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:

id Name GO ID Score Top Affiliating Genes
1 ciliary membrane GO:0060170 9.5 PKD1 PKD2 PTCH1
2 male germ cell nucleus GO:0001673 9.43 MLH1 MLH3
3 MutLalpha complex GO:0032389 9.37 MLH1 PMS2
4 MutSalpha complex GO:0032301 9.26 MSH2 MSH6
5 chiasma GO:0005712 9.16 MLH1 MLH3
6 polycystin complex GO:0002133 8.96 PKD1 PKD2
7 mismatch repair complex GO:0032300 8.8 MLH3 MSH2 PMS2
8 nucleus GO:0005634 10.25 ALX4 CRYBA1 MEN1 MLH1 MLH3 MSH2

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

(show top 50) (show all 57)
id Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.98 NF1 NFKBIA SHH TGFBR2
2 DNA repair GO:0006281 9.95 MEN1 MLH1 MLH3 MSH2 MSH6 PMS2
3 kidney development GO:0001822 9.9 PKD1 PKD2 SHH
4 negative regulation of cell migration GO:0030336 9.89 NF1 NF2 SHH
5 lung development GO:0030324 9.89 PITX2 SHH TGFBR2
6 in utero embryonic development GO:0001701 9.89 MSH2 PITX2 PKD1 PTCH1 TGFBR2
7 animal organ morphogenesis GO:0009887 9.88 PAX3 PITX2 PTCH1 TGFBR2
8 brain development GO:0007420 9.88 MEN1 NF1 NF2 PITX2 PTCH1 TGFBR2
9 liver development GO:0001889 9.87 NF1 PKD1 PKD2
10 palate development GO:0060021 9.87 ALX4 SHH TGFBR2
11 determination of left/right symmetry GO:0007368 9.86 PITX2 PKD2 SHH
12 smoothened signaling pathway GO:0007224 9.86 PTCH1 SHH TGFBR2
13 vasculogenesis GO:0001570 9.85 PITX2 SHH TGFBR2
14 odontogenesis of dentin-containing tooth GO:0042475 9.85 NF2 PITX2 SHH
15 heart looping GO:0001947 9.85 PKD2 SHH TGFBR2
16 heart development GO:0007507 9.85 NF1 PITX2 PKD1 PKD2 SHH TGFBR2
17 pattern specification process GO:0007389 9.83 ALX4 PTCH1 SHH
18 neural tube development GO:0021915 9.81 NF1 PKD1 PKD2
19 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.79 MLH1 MSH2 MSH6
20 branching involved in ureteric bud morphogenesis GO:0001658 9.79 PKD2 PTCH1 SHH
21 digestive tract development GO:0048565 9.77 ALX4 PKD1 TGFBR2
22 spinal cord development GO:0021510 9.76 NF1 PKD1 PKD2
23 branching involved in blood vessel morphogenesis GO:0001569 9.74 PITX2 SHH TGFBR2
24 embryonic hindlimb morphogenesis GO:0035116 9.73 ALX4 PITX2 SHH
25 negative regulation of MAPK cascade GO:0043409 9.72 NF1 NF2
26 somite development GO:0061053 9.72 PTCH1 SHH
27 detection of mechanical stimulus GO:0050982 9.72 PKD1 PKD2
28 negative regulation of cell-matrix adhesion GO:0001953 9.71 NF1 NF2
29 positive regulation of cholesterol efflux GO:0010875 9.71 NFKBIA PTCH1
30 ectoderm development GO:0007398 9.71 NF2 SHH
31 dorsal/ventral neural tube patterning GO:0021904 9.7 PTCH1 SHH
32 determination of adult lifespan GO:0008340 9.7 MSH2 MSH6
33 placenta blood vessel development GO:0060674 9.7 PKD1 PKD2
34 positive regulation of isotype switching to IgG isotypes GO:0048304 9.69 MLH1 MSH2
35 lung epithelium development GO:0060428 9.68 PKD1 SHH
36 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.67 PKD1 PKD2
37 lung lobe morphogenesis GO:0060463 9.66 SHH TGFBR2
38 mesonephric tubule development GO:0072164 9.66 PKD1 PKD2
39 regulation of protein localization to nucleus GO:1900180 9.65 NF2 SHH
40 negative regulation of DNA recombination GO:0045910 9.65 MSH2 MSH6
41 positive regulation of helicase activity GO:0051096 9.64 MSH2 MSH6
42 maintenance of DNA repeat elements GO:0043570 9.63 MSH2 MSH6
43 positive regulation of isotype switching to IgA isotypes GO:0048298 9.63 MLH1 MSH2
44 isotype switching GO:0045190 9.63 MLH1 MSH2 MSH6
45 mesonephric duct development GO:0072177 9.62 PKD1 PKD2
46 trachea morphogenesis GO:0060439 9.61 SHH TGFBR2
47 cytoplasmic sequestering of transcription factor GO:0042994 9.61 NFKBIA PKD1 PKD2
48 metanephric ascending thin limb development GO:0072218 9.6 PKD1 PKD2
49 renal system development GO:0072001 9.56 PKD1 PKD2 PTCH1 SHH
50 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.54 MLH1 MSH2

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.89 MEN1 MLH1 MLH3 MSH6 PITX2
2 ATPase activity GO:0016887 9.63 ABCC8 MLH1 MLH3 MSH2 MSH6 PMS2
3 single-stranded DNA binding GO:0003697 9.62 MLH1 MLH3 MSH2 PMS2
4 oxidized purine DNA binding GO:0032357 9.52 MSH2 MSH6
5 patched binding GO:0005113 9.51 PTCH1 SHH
6 MutLalpha complex binding GO:0032405 9.48 MSH2 MSH6
7 centromeric DNA binding GO:0019237 9.46 MLH3 MSH2
8 MutSalpha complex binding GO:0032407 9.43 MLH1 PMS2
9 four-way junction DNA binding GO:0000400 9.43 MEN1 MSH2 MSH6
10 single guanine insertion binding GO:0032142 9.4 MSH2 MSH6
11 single thymine insertion binding GO:0032143 9.37 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 protein binding GO:0005515 10.47 CRYBA1 MEN1 MLH1 MLH3 MSH2 MSH6

Sources for Autosomal Dominant Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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