MCID: ATS010
MIFTS: 39

Autosomal Recessive Disease

Categories: Genetic diseases

Aliases & Classifications for Autosomal Recessive Disease

MalaCards integrated aliases for Autosomal Recessive Disease:

Name: Autosomal Recessive Disease 12 14

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 is related to epidermodysplasia verruciformis and exudative vitreoretinopathy. An important gene associated with Autosomal Recessive Disease is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Nucleotide excision repair and RNA Polymerase I Promoter Escape. The drugs Niacin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and kidney, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and behavior/neurological

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 142)
id Related Disease Score Top Affiliating Genes
1 epidermodysplasia verruciformis 10.8
2 exudative vitreoretinopathy 10.7 ERCC3 MPLKIP
3 xeroderma pigmentosum, group b 10.7 ERCC2 ERCC3 GTF2H5
4 cerebrooculofacioskeletal syndrome 2 10.7 ERCC2 ERCC3 GTF2H5
5 echinostomiasis 10.7 SLC26A2 SLC26A4
6 citrullinemia, type ii, neonatal-onset 10.6 ASS1 SLC25A13
7 galloway-mowat syndrome 10.6
8 3-methylglutaconic aciduria, type iii 10.6 ERCC2 ERCC3 GTF2H5 MPLKIP
9 wagr syndrome 10.6 ASS1 SLC25A13
10 ceroid storage disease 10.6 ERCC2 ERCC3
11 urofacial syndrome 1 10.5
12 thiamine-responsive megaloblastic anemia syndrome 10.5
13 immunodeficiency-centromeric instability-facial anomalies syndrome 10.5
14 ovarian dysgenesis 1 10.4
15 hyaline fibromatosis syndrome 10.4
16 citrullinemia, adult-onset type ii 10.4
17 histiocytosis-lymphadenopathy plus syndrome 10.4
18 mitochondrial dna depletion syndrome 4a 10.4
19 arrhythmogenic right ventricular dysplasia 11 10.4
20 antley-bixler syndrome 10.4
21 alstrom syndrome 10.4
22 sudden cardiac failure, alcohol-induced 10.4
23 pendred syndrome 10.4
24 vici syndrome 10.4
25 jmp syndrome 10.4
26 bardet-biedl syndrome 10.4
27 renal tubular acidosis with deafness 10.4
28 cystic fibrosis 10.4
29 dental anomalies and short stature 10.4
30 acrocallosal syndrome 10.4
31 trichothiodystrophy 1, photosensitive 10.4
32 seckel syndrome 10.4
33 senior-loken syndrome-1 10.4
34 retinitis pigmentosa with or without skeletal anomalies 10.4
35 renal tubular acidosis, distal, autosomal recessive 10.4
36 multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 10.4
37 bloom syndrome 10.4
38 ataxia-oculomotor apraxia 4 10.4
39 aicardi-goutieres syndrome 10.4
40 cockayne syndrome 10.4
41 trichothiodystrophy 2, photosensitive 10.4
42 pseudo-torch syndrome 1 10.4
43 atrichia with papular lesions 10.4
44 osteoporosis-pseudoglioma syndrome 10.4
45 temtamy preaxial brachydactyly syndrome 10.4
46 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.4
47 oculocutaneous albinism 10.4
48 donnai-barrow syndrome 10.4
49 hermansky-pudlak syndrome 2 10.4
50 werner 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 9.87 SLC19A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.87 BCS1L
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.87 BCS1L FXN
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.87 SLC19A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.87 GGT1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.87 SLC19A2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.87 GGT1 GTF2H5 BCS1L SLC19A2 ERCC2 FXN
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.87 GTF2H5 FXN
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.87 ERCC2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.87 GGT1 GTF2H5 FXN
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.87 FXN
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.87 GGT1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.87 BCS1L
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.87 GGT1 BCS1L
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.87 SLC19A2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.87 GTF2H5
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.87 GTF2H5 ERCC2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.87 BCS1L
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.87 BCS1L ERCC2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.87 SLC19A2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.87 GGT1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.87 GTF2H5 FXN

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 ERCC3 FXN GGT1 IDUA SLC19A2 SLC26A4
2 growth/size/body region MP:0005378 10.25 ALDOB ASS1 BCS1L BSCL2 ERCC2 ERCC3
3 cellular MP:0005384 10.22 ASS1 BCS1L BSCL2 ERCC2 ERCC3 FXN
4 homeostasis/metabolism MP:0005376 10.21 BSCL2 ERCC2 ERCC3 FXN GGT1 IDUA
5 mortality/aging MP:0010768 10.16 ALDOB ASS1 BCS1L BSCL2 DARS2 ERCC2
6 endocrine/exocrine gland MP:0005379 10.11 BCS1L BSCL2 ERCC2 ERCC3 GGT1 SLC19A2
7 immune system MP:0005387 10.02 SLC19A2 SLC26A4 TYR ALDOB ASS1 BSCL2
8 hearing/vestibular/ear MP:0005377 9.8 TYR ASS1 IDUA SLC19A2 SLC26A4
9 renal/urinary system MP:0005367 9.76 AGXT BCS1L BSCL2 GGT1 IDUA SLC25A13
10 reproductive system MP:0005389 9.61 BCS1L BSCL2 ERCC2 ERCC3 GGT1 IDUA
11 skeleton MP:0005390 9.23 SLC26A2 SLC26A4 SLC39A4 TYR ERCC2 ERCC3

Drugs & Therapeutics for Autosomal Recessive Disease

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

(show top 50) (show all 124)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
2
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
3 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
4 Antiviral Agents Phase 4
5 Interferon-gamma Phase 4
6 interferons Phase 4
7 Nicotinic Acids Phase 4
8 Vitamin B3 Nutraceutical Phase 4
9
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
10
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1 24280-93-1 446541
12
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
13
Carbidopa Approved Phase 3 28860-95-9 34359 38101
14
Alendronate Approved Phase 3 121268-17-5, 66376-36-1 2088
15
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
16
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
17
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
18 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
19 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1
20 Antifungal Agents Phase 2, Phase 3,Phase 1
21 Antirheumatic Agents Phase 2, Phase 3,Phase 1
22 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
23 Cyclosporins Phase 2, Phase 3,Phase 1
24 Dermatologic Agents Phase 2, Phase 3,Phase 1,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 Antimanic Agents Phase 3
40 Central Nervous System Depressants Phase 3
41 GABA Agents Phase 3
42 Psychotropic Drugs Phase 3,Phase 2
43 Tranquilizing Agents Phase 3
44
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
45
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
46
Iron Approved Phase 1, Phase 2 7439-89-6 23925
47
Molybdenum Approved Phase 1, Phase 2 7439-98-7 185498
48
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078 2978
49
Kinetin Approved Phase 2 525-79-1 3830
50
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231

Interventional clinical trials:

(show top 50) (show all 88)

id Name Status NCT ID Phase Drugs
1 Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
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 Mycophenolate mofetil;cyclosporine
3 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
4 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
5 Treatment of Low Bone Density in Cystic Fibrosis. Completed NCT01812551 Phase 3 Alendronate;Placebo
6 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
7 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
8 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
9 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
10 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
11 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
12 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
13 Iron-Chelating Therapy and Friedreich Ataxia Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
14 Nasal Potential Studies Utilizing Cystic Fibrosis Transmembrane Regulator (CFTR) Modulators Completed NCT01348204 Phase 2
15 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2 Dronabinol
16 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
17 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
18 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
19 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
20 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
21 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
22 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2 Triheptanoin
23 Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A Withdrawn NCT00957749 Phase 1, Phase 2 cPMP
24 Parkin Mutations and Their Functional Consequences Unknown status NCT00136721 Phase 1
25 SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias Unknown status NCT00140829 Phase 1
26 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
27 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
28 Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy Completed NCT00060749 Phase 1 Docosahexaenoic Acid (DHA) Dietary Supplement
29 Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers Completed NCT01894165 Phase 1 ALXN1101;Placebo
30 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
31 A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD) Recruiting NCT03096080 Phase 1 Tesevatinib
32 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1 Triheptanoin
33 Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant Active, not recruiting NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
34 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine
35 Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin Terminated NCT01863004 Phase 1 Bortezomib
36 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970
37 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
38 Clinical, Molecular and by Neuroimaging of LRRK2 Mutations Unknown status NCT01085227
39 Amelogenesis Imperfecta Unknown status NCT01746121
40 Hereditary Parkinson s Disease Natural History Protocol Completed NCT02511015
41 Parental Consanguinity and Family History of Kidney Disease in Turkish Kidney Disease Population Completed NCT02917070
42 Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease Completed NCT01439607
43 Effects of Enzyme Replacement in Gaucher's Disease Completed NCT00001289
44 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
45 Benefits and Risks of Newborn Screening for Cystic Fibrosis Completed NCT00014950
46 Psychological Concomitants of Morquio Syndrome (The MAP Study) Completed NCT01752296
47 Evolution of Visual Impairment During Pseudoxanthoma Elasticum Completed NCT00555113
48 Clinical Trial of Factor XIII (FXIII) Concentrate Completed NCT00640289 Fibrogammin P
49 18FDG- PET/CT Contribution to the Assessment of Lesion Severity in Cystic Fibrosis (CF) Completed NCT00363402
50 Comparison of the Colonic Metabolism in Patients With Lactose Intolerance and Healthy Controls Completed NCT02171403

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
Bone, Liver, Kidney, Bone Marrow, Monocytes, Colon, Lung

Publications for Autosomal Recessive Disease

Articles related to Autosomal Recessive Disease:

(show all 31)
id Title Authors Year
1
Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease. ( 28892992 )
2017
2
Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR. ( 27924908 )
2016
3
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. ( 27124789 )
2016
4
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2014
5
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. ( 22858719 )
2013
6
A rare case of respiratory disorders associated with two autosomal recessive diseases and male infertility. ( 23772318 )
2013
7
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
8
Identification of autosomal recessive disease loci using out-bred nuclear families. ( 22052625 )
2012
9
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
10
Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. ( 21475666 )
2010
11
Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? ( 19479854 )
2009
12
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. ( 16642444 )
2006
13
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. ( 16684309 )
2006
14
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
15
Rare etiology of autosomal recessive disease in a child with noncarrier parents. ( 10915611 )
2000
16
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. ( 11149613 )
2000
17
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. ( 9674902 )
1998
18
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
19
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. ( 8596916 )
1996
20
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
21
Autosomal recessive disease. ( 8333249 )
1993
22
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. ( 1986109 )
1991
23
Is juvenile myoclonic epilepsy an autosomal recessive disease? ( 2115759 )
1990
24
Juvenile myoclonic epilepsy: an autosomal recessive disease. ( 2505665 )
1989
25
An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages. ( 3209054 )
1988
26
Tay-Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease. ( 6465844 )
1984
27
Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. ( 704218 )
1978
28
Epidermodysplasia verruciformis. An autosomal recessive disease characterized by viral warts and skin cancer. A model for viral oncogenesis. ( 212144 )
1978
29
Idiopathic haemochromatosis: an autosomal recessive disease. ( 4838891 )
1974
30
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. ( 5116596 )
1971
31
Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. ( 5111762 )
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
Show member pathways
11.5 ERCC2 ERCC3 GTF2H5
2
Show member pathways
11.38 ERCC2 ERCC3 GTF2H5
3 10.59 BCS1L FXN SLC25A13
4
Show member pathways
10.07 AGXT ASS1

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 21)
id Name GO ID Score Top Affiliating Genes
1 transcription elongation from RNA polymerase II promoter GO:0006368 9.77 ERCC2 ERCC3 GTF2H5
2 transcription-coupled nucleotide-excision repair GO:0006283 9.73 ERCC2 ERCC3 GTF2H5
3 response to UV GO:0009411 9.7 ERCC2 ERCC3 TYR
4 nucleotide-excision repair GO:0006289 9.69 ERCC2 ERCC3 GTF2H5
5 nucleotide-excision repair, DNA incision GO:0033683 9.67 ERCC2 ERCC3 GTF2H5
6 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.65 ERCC2 ERCC3 GTF2H5
7 transcription initiation from RNA polymerase I promoter GO:0006361 9.63 ERCC2 ERCC3 GTF2H5
8 7-methylguanosine mRNA capping GO:0006370 9.61 ERCC2 ERCC3 GTF2H5
9 sulfate transport GO:0008272 9.6 SLC26A2 SLC26A4
10 sulfate transmembrane transport GO:1902358 9.58 SLC26A2 SLC26A4
11 UV protection GO:0009650 9.58 ERCC2 ERCC3
12 global genome nucleotide-excision repair GO:0070911 9.58 ERCC2 ERCC3 GTF2H5
13 oxalate transport GO:0019532 9.57 SLC26A2 SLC26A4
14 regulation of mitotic cell cycle phase transition GO:1901990 9.55 ERCC2 ERCC3
15 hair cell differentiation GO:0035315 9.54 ERCC2 ERCC3
16 transcription elongation from RNA polymerase I promoter GO:0006362 9.54 ERCC2 ERCC3 GTF2H5
17 termination of RNA polymerase I transcription GO:0006363 9.5 ERCC2 ERCC3 GTF2H5
18 nucleotide-excision repair, preincision complex assembly GO:0006294 9.43 ERCC2 ERCC3 GTF2H5
19 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.33 ERCC2 ERCC3 GTF2H5
20 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.13 ERCC2 ERCC3 GTF2H5
21 nucleotide-excision repair, preincision complex stabilization GO:0006293 8.8 ERCC2 ERCC3 GTF2H5

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

id Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.4 SLC26A2 SLC26A4
2 amino acid binding GO:0016597 9.37 AGXT ASS1
3 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.32 ERCC2 ERCC3
4 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A2 SLC26A4
5 sulfate transmembrane transporter activity GO:0015116 9.16 SLC26A2 SLC26A4
6 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A2 SLC26A4
7 oxalate transmembrane transporter activity GO:0019531 8.62 SLC26A2 SLC26A4

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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