MCID: ATS010
MIFTS: 47

Autosomal Recessive Disease

Categories: Genetic diseases

Aliases & Classifications for Autosomal Recessive Disease

MalaCards integrated aliases for Autosomal Recessive Disease:

Name: Autosomal Recessive Disease 12 15
Autosomal Recessive Disorder 15

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 aceruloplasminemia and nonphotosensitive trichothiodystrophy. An important gene associated with Autosomal Recessive Disease is FXN (Frataxin), and among its related pathways/superpathways are Nucleotide excision repair and RNA Polymerase I Promoter Escape. The drugs Dopamine and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 759)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 32.0 BCS1L DARS2 FXN TTPA
2 nonphotosensitive trichothiodystrophy 31.4 ERCC3 MPLKIP
3 citrullinemia, type ii, adult-onset 31.4 ASS1 SLC25A13
4 xeroderma pigmentosum, complementation group d 31.4 ERCC2 ERCC3 GTF2H5
5 citrullinemia, classic 31.4 ASS1 SLC25A13
6 trichothiodystrophy 1, photosensitive 31.3 ERCC2 ERCC3 GTF2H5 MPLKIP
7 achondrogenesis, type ib 31.3 SLC26A2 SLC26A4
8 wilson disease 11.1
9 desmosterolosis 11.1
10 alacrima, achalasia, and mental retardation syndrome 11.1
11 epidermodysplasia verruciformis 11.0
12 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.0
13 cohen syndrome 11.0
14 dyggve-melchior-clausen disease 11.0
15 mucolipidosis ii alpha/beta 11.0
16 neurodegeneration with brain iron accumulation 2a 11.0
17 acrocapitofemoral dysplasia 11.0
18 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.0
19 hereditary sensory neuropathy 11.0
20 sclerosteosis 11.0
21 otospondylomegaepiphyseal dysplasia 11.0
22 congenital disorder of glycosylation, type ia 10.8
23 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.8
24 folate malabsorption, hereditary 10.8
25 keutel syndrome 10.8
26 chylomicron retention disease 10.8
27 craniolenticulosutural dysplasia 10.8
28 urofacial syndrome 1 10.8
29 thiamine-responsive megaloblastic anemia syndrome 10.8
30 galloway-mowat syndrome 10.8
31 immunodeficiency-centromeric instability-facial anomalies syndrome 10.8
32 leukocyte adhesion deficiency, type i 10.8
33 abetalipoproteinemia 10.8
34 carpenter syndrome 1 10.8
35 glucocorticoid deficiency 1 10.8
36 albinism, oculocutaneous, type ii 10.8
37 hermansky-pudlak syndrome 1 10.8
38 corticosterone methyloxidase type i deficiency 10.8
39 corneal dystrophy, gelatinous drop-like 10.8
40 argininosuccinic aciduria 10.8
41 arterial calcification, generalized, of infancy, 1 10.8
42 seckel syndrome 1 10.8
43 griscelli syndrome, type 1 10.8
44 boucher-neuhauser syndrome 10.8
45 yunis-varon syndrome 10.8
46 jervell and lange-nielsen syndrome 1 10.8
47 dicarboxylic aminoaciduria 10.8
48 kohlschutter-tonz syndrome 10.8
49 glutamate formiminotransferase deficiency 10.8
50 geleophysic dysplasia 1 10.8

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 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.39 SLC19A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.39 BCS1L
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.39 BCS1L FXN
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.39 SLC19A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.39 SLC19A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.39 BCS1L ERCC2 FXN GTF2H5 SLC19A2 TTPA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.39 FXN GTF2H5 TTPA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.39 ERCC2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.39 FXN GTF2H5
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.39 FXN
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.39 BCS1L
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.39 BCS1L
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.39 SLC19A2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.39 GTF2H5 TTPA
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.39 ERCC2 GTF2H5
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.39 BCS1L
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.39 BCS1L ERCC2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.39 TTPA
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.39 SLC19A2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.39 FXN GTF2H5 TTPA
21 Decreased viability GR00221-A-1 10.07 FXN
22 Decreased viability GR00301-A 10.07 FXN
23 Decreased viability GR00381-A-1 10.07 AGXT IDUA MPLKIP SLC26A2
24 Decreased viability GR00402-S-2 10.07 AGXT ALDOB ASS1 BCS1L BSCL2 DARS2
25 no effect GR00402-S-1 9.62 AGXT ALDOB ASS1 BCS1L BSCL2 DARS2

MGI Mouse Phenotypes related to Autosomal Recessive Disease:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 ALDOB ASS1 BCS1L BSCL2 ERCC2 ERCC3
2 homeostasis/metabolism MP:0005376 10.31 AGXT ALDOB ASS1 BCS1L BSCL2 ERCC2
3 cellular MP:0005384 10.24 ASS1 BCS1L BSCL2 ERCC2 ERCC3 FXN
4 mortality/aging MP:0010768 10.24 ALDOB ASS1 BCS1L BSCL2 DARS2 ERCC2
5 growth/size/body region MP:0005378 10.23 ALDOB ASS1 BCS1L BSCL2 ERCC2 ERCC3
6 endocrine/exocrine gland MP:0005379 10.08 BCS1L BSCL2 ERCC2 ERCC3 SLC19A2 SLC26A4
7 nervous system MP:0003631 10.02 ASS1 ERCC2 FXN IDUA SLC19A2 SLC25A13
8 hearing/vestibular/ear MP:0005377 9.98 ALDOB ASS1 IDUA SLC19A2 SLC25A13 SLC26A4
9 reproductive system MP:0005389 9.81 BCS1L BSCL2 ERCC2 ERCC3 IDUA SLC19A2
10 renal/urinary system MP:0005367 9.8 AGXT BCS1L BSCL2 IDUA SLC25A13 SLC26A4
11 skeleton MP:0005390 9.61 ALDOB BSCL2 ERCC2 ERCC3 IDUA SLC26A2
12 vision/eye MP:0005391 9.17 ASS1 ERCC2 ERCC3 IDUA SLC39A4 TTPA

Drugs & Therapeutics for Autosomal Recessive Disease

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
2
Carbidopa Approved Phase 3 28860-95-9 34359 38101
3 Neurotransmitter Agents Phase 3,Phase 2
4 Dopamine Agents Phase 3,Phase 2
5 Antiparkinson Agents Phase 3,Phase 2
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
7
Ropinirole Approved, Investigational Phase 2 91374-21-9, 91374-20-8 497540 5095
8
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
9
Kinetin Approved Phase 2 525-79-1 3830
10
Quercetin Experimental, Investigational Phase 2,Phase 1 117-39-5 5280343
11 Dopamine agonists Phase 2
12 Antioxidants Phase 2,Phase 1
13 Protective Agents Phase 2,Phase 1
14 Hormone Antagonists Phase 2
15 Analgesics, Non-Narcotic Phase 2
16 Analgesics Phase 2
17 Hallucinogens Phase 2
18 Hormones Phase 2
19 Psychotropic Drugs Phase 2
20 Peripheral Nervous System Agents Phase 2
21 Cannabinoid Receptor Agonists Phase 2
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
23 tannic acid Approved Not Applicable
24
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
2 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
3 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
4 28 Day Repeat Dose in Cystic Fibrosis Patients Completed NCT00903201 Phase 2 SB656933;SB656933;Placebo
5 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
6 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2 Dronabinol
7 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
8 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
9 The Short-term Effect of ELTGOL on Pulmonary Ventilation Valued Through Electrical Impedance Tomography in Cystic Fibrosis Patients Unknown status NCT02600039 Not Applicable
10 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) Completed NCT02840669 Not Applicable
11 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Active, not recruiting NCT02316314
12 A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia Active, not recruiting NCT03013777 Not Applicable
13 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet recruiting NCT03800056
14 Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency Not yet recruiting NCT03758521
15 An Investigation of the Association Between Helicobacter Pylori Infection and Abdominal Pain in Cystic Fibrosis Patients Withdrawn NCT00765401

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:

41
Bone, Testes, Liver, Brain, Endothelial, Bone Marrow, Heart

Publications for Autosomal Recessive Disease

Articles related to Autosomal Recessive Disease:

(show top 50) (show all 69)
# 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
CONSANGUINITY AND HOMOZYGOSITY AMONG TUNISIAN PATIENTS WITH AN AUTOSOMAL RECESSIVE DISORDER. ( 25630711 )
2015
5
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2014
6
Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder. ( 24621779 )
2014
7
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. ( 22858719 )
2013
8
Identification of autosomal recessive disease loci using out-bred nuclear families. ( 22052625 )
2012
9
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
10
Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family. ( 21628937 )
2011
11
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
12
Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. ( 21475666 )
2010
13
Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? ( 19479854 )
2009
14
A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. ( 17272902 )
2007
15
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. ( 17632789 )
2007
16
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. ( 16642444 )
2006
17
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. ( 16684309 )
2006
18
Familial infantile myelofibrosis as an autosomal recessive disorder: preponderance among children from Saudi Arabia. ( 16728367 )
2006
19
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
20
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene. ( 15756348 )
2005
21
Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder. ( 15200504 )
2004
22
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. ( 11149613 )
2000
23
Rare etiology of autosomal recessive disease in a child with noncarrier parents. ( 10915611 )
2000
24
Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changes: a possible new autosomal recessive disorder. ( 10649801 )
2000
25
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. ( 9674902 )
1998
26
Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. ( 9825573 )
1998
27
Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: a distinct autosomal-recessive disorder. ( 9489787 )
1998
28
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
29
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. ( 9024571 )
1997
30
Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild. ( 9128926 )
1997
31
Dentato-olivary dysplasia in sibs: an autosomal recessive disorder? ( 9429148 )
1997
32
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. ( 8596916 )
1996
33
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
34
Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? ( 8723066 )
1996
35
Extreme intrauterine growth retardation, hydrocephalus and aged facial appearance: a previously unrecognized autosomal recessive disorder? ( 8905196 )
1996
36
Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. ( 8585565 )
1995
37
Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation. A new autosomal recessive disorder? ( 7749665 )
1994
38
Autosomal recessive disease. ( 8333249 )
1993
39
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? ( 8266995 )
1993
40
Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. ( 1986109 )
1991
41
Trichomegaly, pigmentary degeneration of the retina and growth disturbances. A probable autosomal recessive disorder. ( 1781955 )
1991
42
Is juvenile myoclonic epilepsy an autosomal recessive disease? ( 2115759 )
1990
43
Juvenile myoclonic epilepsy: an autosomal recessive disease. ( 2505665 )
1989
44
Atrial septal defect, ventricular septal defect, and coarctation of the aorta in sibs: an autosomal recessive disorder? ( 2929656 )
1989
45
Early onset hereditary spinocerebellar ataxia: an autosomal recessive disorder distinct from Friedreich's ataxia. ( 2630444 )
1989
46
Strategies and sample-size considerations for mapping a two-locus autosomal recessive disorder. ( 2773934 )
1989
47
An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages. ( 3209054 )
1988
48
An autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly. ( 3174286 )
1988
49
Ligneous conjunctivitis: an autosomal recessive disorder. ( 3723296 )
1986
50
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. ( 3857858 )
1985

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:

# 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:

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

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.99 SLC19A2 SLC25A13 SLC26A2 SLC26A4 SLC39A4
2 transcription-coupled nucleotide-excision repair GO:0006283 9.74 ERCC2 ERCC3 GTF2H5
3 transcription elongation from RNA polymerase II promoter GO:0006368 9.73 ERCC2 ERCC3 GTF2H5
4 response to UV GO:0009411 9.69 ERCC2 ERCC3 TYR
5 nucleotide-excision repair GO:0006289 9.67 ERCC2 ERCC3 GTF2H5
6 nucleotide-excision repair, DNA incision GO:0033683 9.63 ERCC2 ERCC3 GTF2H5
7 sulfate transport GO:0008272 9.61 SLC26A2 SLC26A4
8 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.61 ERCC2 ERCC3 GTF2H5
9 sulfate transmembrane transport GO:1902358 9.6 SLC26A2 SLC26A4
10 UV protection GO:0009650 9.58 ERCC2 ERCC3
11 oxalate transport GO:0019532 9.58 SLC26A2 SLC26A4
12 7-methylguanosine mRNA capping GO:0006370 9.58 ERCC2 ERCC3 GTF2H5
13 regulation of mitotic cell cycle phase transition GO:1901990 9.55 ERCC2 ERCC3
14 vitamin transport GO:0051180 9.54 SLC19A2 TTPA
15 transcription initiation from RNA polymerase I promoter GO:0006361 9.54 ERCC2 ERCC3 GTF2H5
16 hair cell differentiation GO:0035315 9.52 ERCC2 ERCC3
17 termination of RNA polymerase I transcription GO:0006363 9.5 ERCC2 ERCC3 GTF2H5
18 regulation of mitotic recombination GO:0000019 9.48 ERCC2 ERCC3
19 nucleotide-excision repair, preincision complex assembly GO:0006294 9.43 ERCC2 ERCC3 GTF2H5
20 global genome nucleotide-excision repair GO:0070911 9.33 ERCC2 ERCC3 GTF2H5
21 nucleotide-excision repair, DNA duplex unwinding GO:0000717 8.96 ERCC2 ERCC3
22 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:

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.43 SLC26A2 SLC26A4
2 amino acid binding GO:0016597 9.4 AGXT ASS1
3 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.37 ERCC2 ERCC3
4 sulfate transmembrane transporter activity GO:0015116 9.32 SLC26A2 SLC26A4
5 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A2 SLC26A4
6 chloride transmembrane transporter activity GO:0015108 9.16 SLC26A2 SLC26A4
7 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A2 SLC26A4
8 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
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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