MCID: ATS008
MIFTS: 46

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 4 and colorectal cancer, hereditary nonpolyposis, type 7. An important gene associated with Autosomal Dominant Disease is ALX4 (ALX Homeobox 4), and among its related pathways/superpathways are Pathways in cancer and Colorectal Cancer Metastasis. The drugs Everolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are Decreased viability and Decreased viability

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 381)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer, hereditary nonpolyposis, type 4 31.4 MLH1 MSH2 PMS2
2 colorectal cancer, hereditary nonpolyposis, type 7 31.4 MLH1 MLH3 MSH2
3 colorectal cancer, hereditary nonpolyposis, type 5 31.4 MLH1 MSH2 MSH6
4 muir-torre syndrome 31.4 MLH1 MSH2 MSH6 PMS2
5 lynch syndrome i 31.3 EPCAM MLH1 MSH2 MSH6 PMS2
6 familial adenomatous polyposis 31.3 MLH1 MSH2 MSH6
7 lynch syndrome 31.2 EPCAM MLH1 MLH3 MSH2 MSH6 PMS2
8 aromatase excess syndrome 11.1
9 polycystic kidney disease 1 with or without polycystic liver disease 11.1
10 storm syndrome 11.0
11 polycystic kidney disease 2 with or without polycystic liver disease 10.9
12 ataxia-pancytopenia syndrome 10.9
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 brooke-spiegler syndrome 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 achondroplasia 10.7
46 adult syndrome 10.7
47 ankyloblepharon-ectodermal defects-cleft lip/palate 10.7
48 townes-brocks syndrome 1 10.7
49 basal cell nevus syndrome 10.7
50 branchiooculofacial 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:

26 (show top 50) (show all 51)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.46 TGFBR2
2 Decreased viability GR00221-A-1 10.46 FGFR3 TGFBR2
3 Decreased viability GR00221-A-2 10.46 FGFR3
4 Decreased viability GR00221-A-3 10.46 FGFR3 SHH TGFBR2
5 Decreased viability GR00221-A-4 10.46 TGFBR2
6 Decreased viability GR00240-S-1 10.46 SALL1
7 Decreased viability GR00301-A 10.46 MLH3 MSH2
8 Decreased viability GR00381-A-1 10.46 HMBS
9 Decreased viability GR00402-S-2 10.46 ABCC8 ALX4 COL2A1 DLX3 EFEMP1 EPCAM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.37 PMS2 PTCH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.37 FGFR3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.37 FGFR3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.37 EPCAM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.37 MSH2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.37 EPCAM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.37 PMS2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.37 EPCAM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.37 EPCAM MSH2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.37 PMS2 PTCH1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.37 PMS2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.37 PTCH1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.37 PMS2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.37 MSH2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.37 EPCAM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.37 MSH2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.37 MSH2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.37 PMS2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.37 FGFR3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.37 MSH2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.37 PMS2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.37 EPCAM FGFR3 MSH2 PMS2 PTCH1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.37 EPCAM PTCH1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.37 FGFR3
34 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.37 EPCAM
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.32 TGFBR2
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.32 TGFBR2
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.32 EPCAM
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.32 TGFBR2
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.32 TGFBR2
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.32 SALL1
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.32 SALL1 TGFBR2
42 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.32 EFEMP1
43 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.32 SALL1
44 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.32 EFEMP1 SALL1
45 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.32 EFEMP1 EPCAM SALL1 TGFBR2
46 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 10.32 EPCAM
47 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.32 TGFBR2
48 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.32 TGFBR2
49 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.32 TGFBR2
50 no effect GR00402-S-1 9.96 ABCC8 ALX4 COL2A1 DLX3 EFEMP1 EPCAM

MGI Mouse Phenotypes related to Autosomal Dominant Disease:

46 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 COL2A1 EPCAM FGFR3 GJB2 MLH1 MSH2
2 homeostasis/metabolism MP:0005376 10.46 ABCC8 COL2A1 EFEMP1 EPCAM FGFR3 GJB2
3 digestive/alimentary MP:0005381 10.45 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 MLH1
4 mortality/aging MP:0010768 10.45 ALX4 COL2A1 DLX3 EFEMP1 EPCAM FGFR3
5 behavior/neurological MP:0005386 10.41 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 HMBS
6 growth/size/body region MP:0005378 10.4 ALX4 COL2A1 DLX3 EFEMP1 EPCAM FGFR3
7 immune system MP:0005387 10.39 COL2A1 EFEMP1 EPCAM FGFR3 GJB2 MLH1
8 endocrine/exocrine gland MP:0005379 10.37 ABCC8 DLX3 EFEMP1 EPCAM MLH1 MLH3
9 cardiovascular system MP:0005385 10.36 COL2A1 DLX3 EFEMP1 EPCAM GJB2 PAX3
10 embryo MP:0005380 10.34 ALX4 COL2A1 DLX3 EPCAM GJB2 PAX3
11 hematopoietic system MP:0005397 10.31 EFEMP1 EPCAM FGFR3 MLH1 MSH2 MSH6
12 integument MP:0010771 10.28 ALX4 DLX3 EFEMP1 FGFR3 GJB2 MLH1
13 craniofacial MP:0005382 10.26 ALX4 COL2A1 FGFR3 GJB2 PAX3 PITX2
14 nervous system MP:0003631 10.25 ALX4 COL2A1 EPCAM FGFR3 GJB2 HMBS
15 limbs/digits/tail MP:0005371 10.18 ALX4 COL2A1 FGFR3 GJB2 PAX3 PITX2
16 normal MP:0002873 10.15 ALX4 COL2A1 EFEMP1 FGFR3 GJB2 HMBS
17 hearing/vestibular/ear MP:0005377 10.12 COL2A1 FGFR3 GJB2 PAX3 PTCH1 SALL1
18 neoplasm MP:0002006 10.11 FGFR3 MLH1 MSH2 MSH6 PAX3 PMS2
19 muscle MP:0005369 10.08 ALX4 EFEMP1 HMBS PAX3 PITX2 PTCH1
20 liver/biliary system MP:0005370 10.05 COL2A1 EFEMP1 PAX3 PITX2 PMS2 SHH
21 no phenotypic analysis MP:0003012 10.01 ABCC8 EPCAM FGFR3 GJB2 PAX3 PITX2
22 renal/urinary system MP:0005367 9.92 COL2A1 EFEMP1 FGFR3 HMBS PAX3 PTCH1
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 9.7 ALX4 COL2A1 EFEMP1 FGFR3 GJB2 PAX3
26 vision/eye MP:0005391 9.36 ALX4 COL2A1 EFEMP1 FGFR3 GJB2 MLH1

Drugs & Therapeutics for Autosomal Dominant Disease

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 3 159351-69-6 6442177
2
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 6436030 5284616
3
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
4 Anti-Infective Agents Phase 3,Phase 2
5 Immunosuppressive Agents Phase 3,Phase 2
6 Immunologic Factors Phase 3,Phase 2,Phase 1
7 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
8 Antibiotics, Antitubercular Phase 3,Phase 1
9 Antifungal Agents Phase 3
10 Angiogenesis Modulating Agents Phase 2
11 Angiogenesis Inhibitors Phase 2
12
Aclarubicin Investigational Phase 1 57576-44-0 451415
13 Aclacinomycins Phase 1
14 Topoisomerase Inhibitors Phase 1
15 Adjuvants, Immunologic Phase 1
16
Ethanol Approved 64-17-5 702
17 Sunflower Not Applicable
18 Soy Bean Not Applicable

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
2 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
3 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Active, not recruiting NCT02723448 Phase 1 aclarubicin
4 Effect of Rapeseed Oil and Sunflower Oil Unknown status NCT00924274 Not Applicable
5 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial Unknown status NCT02861911 Not Applicable
6 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Unknown status NCT02520856
7 Soy Food Intervention Trial Unknown status NCT00924339 Not Applicable
8 Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial Recruiting NCT02948179 Not Applicable
9 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
10 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
11 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
12 Growth and Development of the Striatum in Huntington's Disease Enrolling by invitation NCT01860339

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:

41
Kidney, Bone, Liver, Skin, Brain, Heart, Bone Marrow

Publications for Autosomal Dominant Disease

Articles related to Autosomal Dominant Disease:

(show all 27)
# 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
Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder. ( 22346004 )
2011
8
Pseudo-likelihood estimates of the cumulative risk of an autosomal dominant disease from a kin-cohort study. ( 11180447 )
2001
9
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. ( 9521591 )
1998
10
A unique autosomal dominant disorder with indifference to pain: clinicopathologic correlation of indifference to pain and thalamic gliosis. ( 9748671 )
1998
11
Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay--a new autosomal dominant disorder? ( 9134293 )
1997
12
Newly recognized autosomal dominant disorder with craniosynostosis. ( 8357019 )
1993
13
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. ( 1978558 )
1990
14
Ichthyosis follicularis in two girls: an autosomal dominant disorder. ( 1706858 )
1990
15
Genetic analysis of familial amyloidotic polyneuropathy, an autosomal dominant disease. ( 2559819 )
1989
16
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. ( 2725645 )
1989
17
Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder. ( 3352913 )
1988
18
Ichthyosis-cheek-eyebrow (ICE) syndrome: a new autosomal dominant disorder. ( 3568439 )
1987
19
Infantile myofibromatosis. Evidence for an autosomal-dominant disorder. ( 6742314 )
1984
20
Familial neonatal and infantile seizures: an autosomal-dominant disorder. ( 6476007 )
1984
21
The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors. ( 7079022 )
1982
22
[Hereditary chronic pancreatitis: an autosomal dominant disease (author's transl)]. ( 227088 )
1979
23
Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorder. ( 758579 )
1979
24
Familial hyperglucagonemia--an autosomal dominant disorder. ( 189188 )
1977
25
A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. ( 890102 )
1977
26
Hereditary phlebectasis of the lips. An autosomal dominant disorder. ( 1275529 )
1976
27
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 33)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 ABCC8 PMS2 PTCH1 TGFBR2
2 DNA repair GO:0006281 9.92 MLH1 MLH3 MSH2 MSH6 PMS2
3 camera-type eye development GO:0043010 9.79 EFEMP1 PITX2 SHH
4 roof of mouth development GO:0060021 9.79 ALX4 COL2A1 SHH
5 smoothened signaling pathway GO:0007224 9.78 PTCH1 SHH TGFBR2
6 embryonic digit morphogenesis GO:0042733 9.74 ALX4 SALL1 SHH
7 inner ear development GO:0048839 9.72 COL2A1 GJB2 SHH
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.71 MLH1 MSH2 MSH6
9 negative regulation of DNA recombination GO:0045910 9.65 MSH2 MSH6
10 somite development GO:0061053 9.65 PTCH1 SHH
11 determination of adult lifespan GO:0008340 9.65 MSH2 MSH6
12 branching involved in ureteric bud morphogenesis GO:0001658 9.65 PTCH1 SALL1 SHH
13 prostate gland development GO:0030850 9.64 PTCH1 SHH
14 dorsal/ventral neural tube patterning GO:0021904 9.64 PTCH1 SHH
15 limb bud formation GO:0060174 9.63 COL2A1 SHH
16 positive regulation of isotype switching to IgG isotypes GO:0048304 9.63 MLH1 MSH2
17 positive regulation of helicase activity GO:0051096 9.6 MSH2 MSH6
18 lung lobe morphogenesis GO:0060463 9.58 SHH TGFBR2
19 pyrimidine dimer repair GO:0006290 9.58 MSH2 MSH6
20 replication fork arrest GO:0043111 9.56 MSH2 MSH6
21 pattern specification process GO:0007389 9.56 ALX4 PTCH1 SHH TGFBR2
22 limb morphogenesis GO:0035108 9.54 ALX4 COL2A1 PTCH1
23 maintenance of DNA repeat elements GO:0043570 9.51 MSH2 MSH6
24 isotype switching GO:0045190 9.5 MLH1 MSH2 MSH6
25 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MLH1 MSH2
26 meiotic mismatch repair GO:0000710 9.46 MSH2 MSH6
27 trachea morphogenesis GO:0060439 9.43 SHH TGFBR2
28 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MLH1 MSH2
29 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
30 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
31 mismatch repair GO:0006298 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
32 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 ALX4 DLX3 EPCAM PAX3 PITX2 SALL1
33 cellular response to DNA damage stimulus GO:0006974 10.02 MLH1 MLH3 MSH2 MSH6 PMS2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.91 DLX3 MLH1 MLH3 MSH2 MSH6
2 ATPase activity GO:0016887 9.63 ABCC8 MLH1 MLH3 MSH2 MSH6 PMS2
3 single-stranded DNA binding GO:0003697 9.56 MLH1 MLH3 MSH2 PMS2
4 HMG box domain binding GO:0071837 9.55 ALX4 PAX3
5 four-way junction DNA binding GO:0000400 9.54 MSH2 MSH6
6 patched binding GO:0005113 9.52 PTCH1 SHH
7 centromeric DNA binding GO:0019237 9.49 MLH3 MSH2
8 MutLalpha complex binding GO:0032405 9.48 MSH2 MSH6
9 MutSalpha complex binding GO:0032407 9.46 MLH1 PMS2
10 oxidized purine DNA binding GO:0032357 9.43 MSH2 MSH6
11 single thymine insertion binding GO:0032143 9.37 MSH2 MSH6
12 single guanine insertion binding GO:0032142 9.32 MSH2 MSH6
13 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
14 mismatched DNA binding GO:0030983 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
15 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 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
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