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


External Ids:

Disease Ontology 12 DOID:0050739

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 neurofibromatosis-noonan syndrome and basal ganglia calcification. 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. The drugs Iron and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are Increased cell migration and Increased viability with MLN4924 (a NAE inhibitor)

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 64)
id Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 11.0 NF1 NF2
2 basal ganglia calcification 11.0 NF1 PKD1
3 lung lymphoma 11.0 NF1 NF2 PKDREJ
4 interstitial nephritis, karyomegalic 11.0 MSH2 MSH6 NF1
5 wissler's syndrome 11.0 MLH1 MSH2 MSH6
6 smith-mccort dysplasia 2 11.0 MEN1 PKD1 PKD2
7 clear cell ependymoma 11.0 MEN1 NF1 NF2
8 optic papillitis 11.0 MLH1 MSH2 MSH6
9 vestibular gland benign neoplasm 11.0 MEN1 NF1 NF2
10 neuropathy, hereditary sensory, type if 11.0 PKD1 PKD2 PKDREJ
11 multiple endocrine neoplasia iib 11.0 MEN1 NF1 RET
12 cellular myxoid liposarcoma 11.0 MLH1 MSH2 MSH6
13 central hypoventilation syndrome, congenital 11.0 MEN1 PTCH1 RET
14 large intestine adenocarcinoma 10.9 MLH1 MSH2 MSH6 PMS2
15 verrucous papilloma 10.9 MLH1 MSH2 MSH6 XPA
16 optic nerve sheath meningioma 10.9 MLH1 MSH2 MSH6 PMS2
17 sporadic hemiplegic migraine 10.9 MEN1 NF1 RET
18 benign fibrous mesothelioma 10.9 MLH1 MSH2 MSH6 PMS2
19 cataract 27, nuclear progressive 10.9 MLH1 MSH2 MSH6 PMS2
20 benign ependymoma 10.9 MLH1 MSH2 MSH6 PMS2
21 hereditary nephrotic syndromes, autosomal dominant 10.9 MLH1 MSH2 MSH6 PMS2
22 wolffian duct adenoma 10.9 MLH1 MSH2 MSH6 PMS2
23 muir-torre syndrome 10.9 MLH1 MSH2 MSH6 PMS2
24 mismatch repair cancer syndrome 10.9 MLH1 MSH2 MSH6 PMS2
25 macular dystrophy, patterned, 3 10.9 PKD1 PKD2 PTCH1
26 psoriasis 10.9 MLH1 MSH2
27 thyroid dyshormonogenesis 1 10.9 PKD1 PKD2 PTCH1
28 trachea squamous cell carcinoma 10.9 MLH1 MSH2 MSH6 PMS2
29 gallbladder cancer 10.9 MLH1 MSH2 MSH6 PMS2
30 basal cell nevus syndrome 10.9 NF1 PTCH1 XPA
31 spastic ataxia 1 10.9 PKD1 PKD2 PKDREJ
32 male reproductive organ benign neoplasm 10.9 MEN1 MLH1 RET
33 arteritic anterior ischemic optic neuropathy 10.9 MLH1 MSH2 MSH6
34 cataract 30, pulverulent 10.9 CFTR PKDREJ RET
35 apocrine adenoma 10.9 MLH1 MSH2 MSH6 PMS2
36 benign shuddering attacks 10.9 MEN1 MLH1 PTCH1 RET
37 erythrocytosis, familial, 2 10.9 MEN1 NF1 RET
38 angioimmunoblastic lymphadenopathy with dysproteinemia 10.9 MLH1 MSH2
39 autoimmune lymphoproliferative syndrome 10.9 MEN1 NF1 NF2 PTCH1
40 childhood optic nerve glioma 10.9 MEN1 MLH1 MSH2 RET
41 small cell sarcoma 10.9 NF1 NF2 PTCH1
42 autism 19 10.9 PKD1 PKD2 PKDREJ PRKD1
43 immunodeficiency, common variable, 5 10.9 MEN1 NF1 RET
44 mental retardation, autosomal recessive 24 10.9 PKD1 PKD2 PKDREJ PRKD1
45 thyroid gland disease 10.9 MLH1 MSH2
46 fanconi anemia, complementation group q 10.8 ERCC1 WRN
47 bardet-biedl syndrome 10.8 MLH1 MSH2 MSH6
48 48, xxxx 10.8 PKD1 PKD2 PKDREJ
49 cervix uteri carcinoma in situ 10.8 CFTR PKD1 PKD2 PKDREJ PRKD1
50 auditory neuropathy 10.8 MSH2 MSH6

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:

id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-3 9.46 NF1 NF2 PKD1 PKD2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.28 MLH1 MSH2 MSH6 PKD2 PMS2 WRN
3 Increased proliferation GR00094-A 8.96 MEN1 NF2

MGI Mouse Phenotypes related to Autosomal Genetic Disease:

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

Drugs & Therapeutics for Autosomal Genetic Disease

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

(show top 50) (show all 206)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Iron Approved Phase 4,Phase 1,Phase 2 7439-89-6 23925
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
Candesartan Approved Phase 4 139481-59-7 2541
Cilnidipine Approved Phase 4 132203-70-4 5282138
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
Celiprolol Approved, Investigational Phase 4 56980-93-9
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
Angiotensin II Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
11 Antacids Phase 4
12 Anti-Ulcer Agents Phase 4
13 Gastrointestinal Agents Phase 4,Phase 3
Proton pump inhibitors Phase 4
15 Adrenergic Agents Phase 4,Phase 3
16 Adrenergic alpha-Antagonists Phase 4
17 Adrenergic Antagonists Phase 4
18 Angiotensin II Type 1 Receptor Blockers Phase 4
19 Angiotensin Receptor Antagonists Phase 4
20 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 2,Phase 3
21 Angiotensinogen Phase 4
22 Antihypertensive Agents Phase 4,Phase 2,Phase 3
23 calcium channel blockers Phase 4
24 Calcium, Dietary Phase 4,Phase 2
Candesartan cilexetil Phase 4 145040-37-5 2540
26 Autonomic Agents Phase 4,Phase 3
27 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Early Phase 1
29 Dopamine Agents Phase 4,Phase 3,Phase 2
30 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3
31 Anti-Infective Agents Phase 4,Phase 2,Phase 3
32 Adrenergic beta-1 Receptor Antagonists Phase 4
33 Adrenergic beta-Antagonists Phase 4
34 Anti-Arrhythmia Agents Phase 4
35 Vasodilator Agents Phase 4
36 Central Nervous System Stimulants Phase 4
37 Dopamine Uptake Inhibitors Phase 4
38 Antiviral Agents Phase 4,Phase 2
39 Interferon-gamma Phase 4
40 interferons Phase 4
41 Nicotinic Acids Phase 4
42 Vitamin B3 Nutraceutical Phase 4
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3 128794-94-5 5281078
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
Tetrabenazine Approved Phase 3 58-46-8 6018
Alendronate Approved Phase 3 121268-17-5, 66376-36-1 2088
Mipomersen Approved Phase 3,Phase 2 1000120-98-8
Carbidopa Approved Phase 3 28860-95-9 34359 38101

Interventional clinical trials:

(show top 50) (show all 184)

id Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
2 CCB Safety Study in Treatment of Hypertension of ADPKD Unknown status NCT00541853 Phase 4 Candesartan;Candesartan and Cilnidipine;Candesartan plus non-CCB agents
3 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
4 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4 methylphenidate
5 Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
6 Safety and Efficacy in LPL-Deficient Subjects of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein Lipase [S447X] Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
7 Neuroleptic and Huntington Disease Comparison of : Olanzapine, la Tetrabenazine and Tiapride Unknown status NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
8 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3 apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side;apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
9 Treatment of Low Bone Density in Cystic Fibrosis. Completed NCT01812551 Phase 3 Alendronate;Placebo
10 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy Completed NCT00542997 Phase 3
11 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 Mipomersen Sodium
12 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Completed NCT00607373 Phase 3 mipomersen;Placebo
13 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
14 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
15 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
16 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
17 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
18 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. Recruiting NCT01760005 Phase 2, Phase 3 Gantenerumab;Solanezumab;Matching Placebo (Gantenerumab);Matching Placebo (Solanezumab);JNJ-54861911;Matching Placebo (JNJ-54861911)
19 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
20 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Terminated NCT02106520 Phase 2, Phase 3 Bevacizumab;placebo
21 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
22 A Study of Alirocumab (REGN727/SAR236553) in Patients With ADH and GOFm of the PCSK9 Gene or LOFm of the apoB Gene Unknown status NCT01604824 Phase 2 alirocumab;placebo
23 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
24 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
25 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
26 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
27 Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia Completed NCT00477594 Phase 2 mipomersen sodium
28 Treatment of Huntington's Chorea With Amantadine Completed NCT00001930 Phase 2 Amantadine
29 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
30 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
31 Effects of EGCG (Epigallocatechin Gallate) in Huntington's Disease (ETON-Study) Completed NCT01357681 Phase 2 (2)-epigallocatechin-3-gallate (EGCG);Placebo
32 Iron-Chelating Therapy and Friedreich Ataxia Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
33 Nasal Potential Studies Utilizing Cystic Fibrosis Transmembrane Regulator (CFTR) Modulators Completed NCT01348204 Phase 2
34 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
35 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
36 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo
37 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Recruiting NCT02600286 Phase 2 EllaOne;EllaOne placebo
38 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2 Dronabinol
39 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
40 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Recruiting NCT02255435 Phase 2 Omaveloxolone Capsules, 2.5 mg;Omaveloxolone Capsules, 5 mg;Omaveloxolone Capsules, 10 mg;Placebo;Omaveloxolone Capsules, 20 mg;Omaveloxolone Capsules, 40 mg;Omaveloxolone Capsules, 80 mg;Omaveloxolone Capsules, 160 mg;Omaveloxolone Capsules, 300 mg;Omaveloxolone Capsules, 150 mg
41 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
42 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Not yet recruiting NCT02470689 Phase 2 Diacerin cream
43 Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A Withdrawn NCT00957749 Phase 1, Phase 2 cPMP
44 Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations Unknown status NCT00136630 Phase 1
45 Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment Unknown status NCT00149175 Phase 1
46 SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias Unknown status NCT00140829 Phase 1
47 Parkin Mutations and Their Functional Consequences Unknown status NCT00136721 Phase 1
48 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome Completed NCT01981525 Phase 1 Metformin
49 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
50 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase

Search NIH Clinical Center for Autosomal Genetic Disease

Genetic Tests for Autosomal Genetic Disease

Anatomical Context for Autosomal Genetic Disease

MalaCards organs/tissues related to Autosomal Genetic Disease:

Kidney, Bone, Liver, Lung, Testes, Skin, Monocytes

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:

id 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 MSH2 PMS2
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 10.25 ABCC6 ERCC1 MEN1 MLH1 MSH2 MSH6

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

(show all 40)
id 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 9.84 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 9.76 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 negative regulation of cell-matrix adhesion GO:0001953 9.68 NF1 NF2
11 multicellular organism aging GO:0010259 9.68 ERCC1 WRN
12 oxygen transport GO:0015671 9.68 HBB HBE1
13 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.67 ABCC6 CFTR
14 determination of adult lifespan GO:0008340 9.67 MSH2 MSH6
15 UV protection GO:0009650 9.67 ERCC1 XPA
16 mismatch repair GO:0006298 9.67 MLH1 MSH2 MSH6 PMS2
17 t-circle formation GO:0090656 9.66 ERCC1 WRN
18 cytoplasmic sequestering of transcription factor GO:0042994 9.65 PKD1 PKD2
19 placenta blood vessel development GO:0060674 9.65 PKD1 PKD2
20 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.65 NF1 RET
21 UV-damage excision repair GO:0070914 9.64 ERCC1 XPA
22 positive regulation of isotype switching to IgG isotypes GO:0048304 9.63 MLH1 MSH2
23 renal system development GO:0072001 9.63 PKD1 PKD2 PTCH1
24 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
25 mesonephric tubule development GO:0072164 9.61 PKD1 PKD2
26 negative regulation of DNA recombination GO:0045910 9.61 MSH2 MSH6
27 detection of mechanical stimulus GO:0050982 9.61 PKD1 PKD2 PKDREJ
28 positive regulation of helicase activity GO:0051096 9.6 MSH2 MSH6
29 maintenance of DNA repeat elements GO:0043570 9.58 MSH2 MSH6
30 positive regulation of isotype switching to IgA isotypes GO:0048298 9.57 MLH1 MSH2
31 replicative cell aging GO:0001302 9.56 ERCC1 WRN
32 mesonephric duct development GO:0072177 9.55 PKD1 PKD2
33 metanephric ascending thin limb development GO:0072218 9.54 PKD1 PKD2
34 somatic recombination of immunoglobulin gene segments GO:0016447 9.5 MLH1 MSH2 MSH6
35 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.49 MLH1 MSH2
36 meiotic mismatch repair GO:0000710 9.48 ERCC1 MSH6
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 17)
id 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 transporter activity GO:0005344 9.56 HBB HBE1
5 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.55 ABCC6 CFTR
6 MutLalpha complex binding GO:0032405 9.54 MSH2 MSH6
7 oxidized purine DNA binding GO:0032357 9.52 MSH2 MSH6
8 MutSalpha complex binding GO:0032407 9.51 MLH1 PMS2
9 ATPase activity GO:0016887 9.5 ABCC6 CFTR MLH1 MSH2 MSH6 PMS2
10 single guanine insertion binding GO:0032142 9.48 MSH2 MSH6
11 four-way junction DNA binding GO:0000400 9.46 MEN1 MSH2 MSH6 WRN
12 guanine/thymine mispair binding GO:0032137 9.43 MLH1 MSH2 MSH6
13 single thymine insertion binding GO:0032143 9.4 MSH2 MSH6
14 Y-form DNA binding GO:0000403 9.32 MEN1 WRN
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

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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