MCID: ATS010
MIFTS: 41

Autosomal Recessive Disease malady

Categories: Genetic diseases

Aliases & Classifications for Autosomal Recessive Disease

Aliases & Descriptions for Autosomal Recessive Disease:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:0050737

Summaries for Autosomal Recessive Disease

Disease Ontology : 12 An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.

MalaCards based summary : Autosomal Recessive Disease, also known as autosomal recessive disorder, is related to trichothiodystrophy 2, photosensitive and wilson disease. An important gene associated with Autosomal Recessive Disease is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are DNA Damage and RNA Polymerase I Promoter Escape. The drugs Iron and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and brain, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and homeostasis/metabolism

Related Diseases for Autosomal Recessive Disease

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

(show top 50) (show all 137)
id Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 2, photosensitive 30.8 ERCC2 ERCC3 GTF2H5 XPA
2 wilson disease 10.9
3 desmosterolosis 10.9
4 epidermodysplasia verruciformis 10.8
5 otospondylomegaepiphyseal dysplasia 10.8
6 mental retardation, truncal obesity, retinal dystrophy, and micropenis 10.8
7 cerebellar ataxia 10.8
8 serkal syndrome 10.8
9 cohen syndrome 10.8
10 galloway-mowat syndrome 10.7
11 chylomicron retention disease 10.6
12 urofacial syndrome 1 10.6
13 acrodermatitis enteropathica 10.4
14 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 10.4
15 bjornstad syndrome 10.4
16 diastrophic dysplasia 10.4
17 fructose intolerance 10.4
18 abcd syndrome 10.4
19 arrhythmogenic right ventricular dysplasia 11 10.4
20 antley-bixler syndrome 10.4
21 optic atrophy 11 10.4
22 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.4
23 sotos syndrome 1 10.4
24 citrullinemia 10.4
25 microphthalmia with limb anomalies 10.4
26 vici syndrome 10.4
27 jmp syndrome 10.4
28 bardet-biedl syndrome 10.4
29 glycine encephalopathy 10.4
30 lipodystrophy, congenital generalized, type 1 10.4
31 agenesis of the corpus callosum with peripheral neuropathy 10.4
32 trichothiodystrophy 1, photosensitive 10.4
33 seckel syndrome 10.4
34 myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects 10.4
35 pierson syndrome 10.4
36 3-m syndrome 1 10.4
37 johanson-blizzard syndrome 10.4
38 ataxia-oculomotor apraxia 4 10.4
39 aicardi-goutieres syndrome 10.4
40 cockayne syndrome 10.4
41 reticular dysgenesis 10.4
42 xeroderma pigmentosum, variant type 10.4
43 hemolytic anemia due to hexokinase deficiency 10.4
44 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.4
45 oculocutaneous albinism 10.4
46 bruck syndrome 2 10.4
47 trichothiodystrophy 3, photosensitive 10.4
48 hyperphenylalaninemia, bh4-deficient, d 10.4
49 mitochondrial dna depletion syndrome 4a 10.4
50 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.4

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



Diseases related to Autosomal Recessive Disease

Symptoms & Phenotypes for Autosomal Recessive Disease

GenomeRNAi Phenotypes related to Autosomal Recessive 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-112 9.78 SLC19A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.78 BCS1L
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.78 FXN BCS1L
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.78 SLC19A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.78 SLC19A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.78 ERCC2 FXN GTF2H5 SLC19A2 BCS1L
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.78 FXN GTF2H5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.78 ERCC2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.78 FXN GTF2H5
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.78 FXN
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.78 BCS1L
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.78 BCS1L
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.78 SLC19A2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.78 GTF2H5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.78 ERCC2 GTF2H5
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.78 BCS1L
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.78 ERCC2 BCS1L
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.78 SLC19A2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.78 FXN GTF2H5

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 CFTR CTSK ERCC2 ERCC3 FXN IDUA
2 behavior/neurological MP:0005386 10.33 BCS1L BSCL2 CFTR ERCC2 ERCC3 FXN
3 cellular MP:0005384 10.28 BCS1L BSCL2 CTSK ERCC2 ERCC3 FXN
4 endocrine/exocrine gland MP:0005379 10.27 ERCC3 MGAT2 SLC19A2 SLC26A4 TYR WRN
5 growth/size/body region MP:0005378 10.26 MGAT2 TYR WRN XPA BCS1L BSCL2
6 immune system MP:0005387 10.18 FXN IDUA MGAT2 SLC19A2 SLC26A4 TYR
7 hematopoietic system MP:0005397 10.16 BSCL2 CFI CFTR CTSK ERCC2 IDUA
8 craniofacial MP:0005382 10.13 CFTR CTSK ERCC3 IDUA MGAT2 TYR
9 mortality/aging MP:0010768 10.13 BCS1L BSCL2 CFTR ERCC2 ERCC3 FXN
10 digestive/alimentary MP:0005381 10.05 SLC19A2 SLC26A4 WRN BSCL2 CFTR CTSK
11 adipose tissue MP:0005375 10.03 BSCL2 CTSK ERCC2 IDUA WRN XPA
12 integument MP:0010771 9.97 ABCC6 BSCL2 ERCC2 ERCC3 IDUA TYR
13 reproductive system MP:0005389 9.93 BCS1L BSCL2 CFTR ERCC2 ERCC3 IDUA
14 renal/urinary system MP:0005367 9.91 ABCC6 AGXT BCS1L BSCL2 CFI IDUA
15 skeleton MP:0005390 9.61 IDUA MGAT2 SLC26A4 TYR WRN XPA
16 vision/eye MP:0005391 9.23 TYR WRN XPA ABCC6 CFTR ERCC2

Drugs & Therapeutics for Autosomal Recessive Disease

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

(show top 50) (show all 143)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 1,Phase 2 7439-89-6 23925
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3 Antacids Phase 4
4 Anti-Ulcer Agents Phase 4
5 Gastrointestinal Agents Phase 4
6
Proton pump inhibitors Phase 4
7
Cyclosporine Approved, Investigational, Vet_approved Phase 2, Phase 3 79217-60-0, 59865-13-3 5284373 6435893
8
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
9
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3 128794-94-5 5281078
10
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
11
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
12
Carbidopa Approved Phase 3 28860-95-9 34359 38101
13
Alendronate Approved Phase 3 121268-17-5, 66376-36-1 2088
14
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
15
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
16
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
17
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7 5362119
18 Anti-Bacterial Agents Phase 2, Phase 3
19 Antibiotics, Antitubercular Phase 2, Phase 3
20 Antifungal Agents Phase 2, Phase 3
21 Anti-Infective Agents Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3
23 Calcineurin Inhibitors Phase 2, Phase 3
24 Dermatologic Agents Phase 2, Phase 3,Early Phase 1
25 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
26 Antiparkinson Agents Phase 3,Phase 2
27 Dopamine Agents Phase 3,Phase 2
28 Neurotransmitter Agents Phase 3,Phase 2
29 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
30 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
31 Vaccines Phase 3
32 Bone Density Conservation Agents Phase 3,Phase 2
33 Anticonvulsants Phase 2, Phase 3
34 Excitatory Amino Acid Antagonists Phase 2, Phase 3
35 Excitatory Amino Acids Phase 2, Phase 3
36 Neuroprotective Agents Phase 2, Phase 3
37 Protective Agents Phase 2, Phase 3, Phase 1
38 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
39 Antibodies Phase 3,Phase 2
40 gamma-Globulins Phase 3
41 Immunoglobulins Phase 3,Phase 2
42 Immunoglobulins, Intravenous Phase 3
43 Rho(D) Immune Globulin Phase 3
44 Micronutrients Phase 2, Phase 3,Phase 1
45 Trace Elements Phase 2, Phase 3,Phase 1
46 Vitamins Phase 2, Phase 3
47 Antimanic Agents Phase 3
48 Central Nervous System Depressants Phase 3
49 GABA Agents Phase 3
50 Psychotropic Drugs Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 102)
id Name Status NCT ID Phase
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
2 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
3 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3
4 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3
5 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3
6 Treatment of Low Bone Density in Cystic Fibrosis. Completed NCT01812551 Phase 3
7 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
8 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3
9 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy Completed NCT00542997 Phase 3
10 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3
11 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3
12 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2
13 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2
14 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2
15 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2
16 Iron-Chelating Therapy and Friedreich Ataxia Completed NCT00224640 Phase 1, Phase 2
17 Nasal Potential Studies Utilizing Cystic Fibrosis Transmembrane Regulator (CFTR) Modulators Completed NCT01348204 Phase 2
18 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2
19 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
20 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
21 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2
22 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Autosomal Dominant Hypocalcemia Recruiting NCT02824718 Phase 2
23 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Recruiting NCT02255435 Phase 2
24 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2
25 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
26 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2
27 Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A Withdrawn NCT00957749 Phase 1, Phase 2
28 Parkin Mutations and Their Functional Consequences Unknown status NCT00136721 Phase 1
29 SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias Unknown status NCT00140829 Phase 1
30 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1
31 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
32 Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy Completed NCT00060749 Phase 1
33 Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers Completed NCT01894165 Phase 1
34 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
35 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1
36 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1
37 Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin Recruiting NCT01863004 Phase 1
38 A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Not yet recruiting NCT03096080 Phase 1
39 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1
40 UAB Recessive PKD Research and Translational Core Center Unknown status NCT00575705
41 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970
42 Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study Unknown status NCT01791452
43 Clinical, Molecular and by Neuroimaging of LRRK2 Mutations Unknown status NCT01085227
44 Amelogenesis Imperfecta Unknown status NCT01746121
45 Study to Re-assess and Re-confirm Data Previously Recorded About the Incidence and Severity of Acute Abdominal "Pancreatitis" Episodes in Lipoprotein Lipase Deficient (LPLD) Subjects Previously Enrolled on AMT Clinical Studies Unknown status NCT01448577
46 Genome-wide Single Cell Haplotyping as a Generic Method for Preimplantation Genetic Diagnosis Unknown status NCT01336400
47 Parental Consanguinity and Family History of Kidney Disease in Turkish Kidney Disease Population Completed NCT02917070
48 Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease Completed NCT01439607
49 Effects of Enzyme Replacement in Gaucher's Disease Completed NCT00001289
50 Efficacy of Invitro Expanded Bone Marrow Derived Allogeneic Mesenchymal Stem Cell Transplantation Via Portal Vein or Hepatic Artery or Peripheral Vein in Patients With Wilson Cirrhosis Completed NCT01378182

Search NIH Clinical Center for Autosomal Recessive Disease

Genetic Tests for Autosomal Recessive Disease

Anatomical Context for Autosomal Recessive Disease

MalaCards organs/tissues related to Autosomal Recessive Disease:

39
Testes, Skin, Brain

Publications for Autosomal Recessive Disease

Articles related to Autosomal Recessive Disease:

(show all 30)
id Title Authors Year
1
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. ( 27124789 )
2016
2
Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR. ( 27924908 )
2016
3
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2014
4
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. ( 22858719 )
2013
5
A rare case of respiratory disorders associated with two autosomal recessive diseases and male infertility. ( 23772318 )
2013
6
Identification of autosomal recessive disease loci using out-bred nuclear families. ( 22052625 )
2012
7
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
8
Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. ( 20637082 )
2010
9
Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. ( 21475666 )
2010
10
Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? ( 19479854 )
2009
11
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. ( 16642444 )
2006
12
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. ( 16684309 )
2006
13
Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. ( 16145690 )
2005
14
Rare etiology of autosomal recessive disease in a child with noncarrier parents. ( 10915611 )
2000
15
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. ( 11149613 )
2000
16
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. ( 9674902 )
1998
17
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. ( 9002528 )
1997
18
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. ( 8808595 )
1996
19
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. ( 8596916 )
1996
20
Autosomal recessive disease. ( 8333249 )
1993
21
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. ( 1986109 )
1991
22
Is juvenile myoclonic epilepsy an autosomal recessive disease? ( 2115759 )
1990
23
Juvenile myoclonic epilepsy: an autosomal recessive disease. ( 2505665 )
1989
24
An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages. ( 3209054 )
1988
25
Tay-Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease. ( 6465844 )
1984
26
Epidermodysplasia verruciformis. An autosomal recessive disease characterized by viral warts and skin cancer. A model for viral oncogenesis. ( 212144 )
1978
27
Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. ( 704218 )
1978
28
Idiopathic haemochromatosis: an autosomal recessive disease. ( 4838891 )
1974
29
Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. ( 5111762 )
1971
30
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. ( 5116596 )
1971

Variations for Autosomal Recessive Disease

Expression for Autosomal Recessive Disease

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

Pathways for Autosomal Recessive Disease

Pathways related to Autosomal Recessive Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 12.02 ERCC2 ERCC3 WRN XPA
2
Show member pathways
11.54 ERCC2 ERCC3 GTF2H5
3
Show member pathways
11.32 ERCC2 ERCC3 GTF2H5 XPA
4 11.19 ERCC2 ERCC3 GTF2H5 XPA
5 10.26 ERCC2 ERCC3 XPA

GO Terms for Autosomal Recessive Disease

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

id Name GO ID Score Top Affiliating Genes
1 holo TFIIH complex GO:0005675 9.16 ERCC2 ERCC3
2 transcription factor TFIID complex GO:0005669 9.13 ERCC2 ERCC3 GTF2H5
3 core TFIIH complex GO:0000439 8.8 ERCC2 ERCC3 GTF2H5

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.97 ERCC2 ERCC3 GTF2H5 WRN XPA
2 response to oxidative stress GO:0006979 9.86 ERCC2 ERCC3 WRN XPA
3 transcription-coupled nucleotide-excision repair GO:0006283 9.8 ERCC2 ERCC3 GTF2H5 XPA
4 transcription elongation from RNA polymerase II promoter GO:0006368 9.79 ERCC2 ERCC3 GTF2H5
5 response to UV GO:0009411 9.76 ERCC2 ERCC3 TYR XPA
6 bicarbonate transport GO:0015701 9.74 CFTR HBB SLC26A4
7 nucleotide-excision repair GO:0006289 9.73 ERCC2 ERCC3 GTF2H5 XPA
8 7-methylguanosine mRNA capping GO:0006370 9.72 ERCC2 ERCC3 GTF2H5
9 transcription initiation from RNA polymerase I promoter GO:0006361 9.71 ERCC2 ERCC3 GTF2H5
10 nucleotide-excision repair, DNA incision GO:0033683 9.71 ERCC2 ERCC3 GTF2H5 XPA
11 transcription elongation from RNA polymerase I promoter GO:0006362 9.7 ERCC2 ERCC3 GTF2H5
12 termination of RNA polymerase I transcription GO:0006363 9.69 ERCC2 ERCC3 GTF2H5
13 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.67 ERCC2 ERCC3 GTF2H5 XPA
14 UV protection GO:0009650 9.65 ERCC2 ERCC3 XPA
15 global genome nucleotide-excision repair GO:0070911 9.62 ERCC2 ERCC3 GTF2H5 XPA
16 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.61 ABCC6 CFTR
17 regulation of mitotic cell cycle phase transition GO:1901990 9.59 ERCC2 ERCC3
18 hair cell differentiation GO:0035315 9.58 ERCC2 ERCC3
19 nucleotide-excision repair, preincision complex assembly GO:0006294 9.56 ERCC2 ERCC3 GTF2H5 XPA
20 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.46 ERCC2 ERCC3 GTF2H5 XPA
21 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.26 ERCC2 ERCC3 GTF2H5 XPA
22 nucleotide-excision repair, preincision complex stabilization GO:0006293 8.92 ERCC2 ERCC3 GTF2H5 XPA
23 cellular response to DNA damage stimulus GO:0006974 10 ERCC2 ERCC3 GTF2H5 WRN XPA

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

id Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.56 ABCC6 CFTR ERCC3 WRN
2 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.4 ERCC2 ERCC3
3 bicarbonate transmembrane transporter activity GO:0015106 9.37 CFTR SLC26A4
4 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.32 ABCC6 CFTR
5 3-5 DNA helicase activity GO:0043138 9.16 ERCC3 WRN
6 chloride transmembrane transporter activity GO:0015108 8.96 CFTR SLC26A4
7 ATP-dependent DNA helicase activity GO:0004003 8.8 ERCC2 ERCC3 WRN

Sources for Autosomal Recessive 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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