SRN1
MCID: GNT179
MIFTS: 37

Genetic Steroid-Resistant Nephrotic Syndrome (SRN1)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Genetic Steroid-Resistant Nephrotic Syndrome

MalaCards integrated aliases for Genetic Steroid-Resistant Nephrotic Syndrome:

Name: Genetic Steroid-Resistant Nephrotic Syndrome 52 58
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 52 58
Hereditary Steroid-Resistant Nephrotic Syndrome 52 58
Genetic Srns 52 58
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 52
Familial Idiopathic Nephrotic Syndrome 52
Srn1 52

Characteristics:

Orphanet epidemiological data:

58
genetic steroid-resistant nephrotic syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

ICD10 via Orphanet 33 N04.1 N04.3 N04.8
UMLS via Orphanet 72 C1868672
Orphanet 58 ORPHA656

Summaries for Genetic Steroid-Resistant Nephrotic Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 656 Definition A rare disorder characterized by a nephrotic syndrome with often early onset. Epidemiology Prevalence in the general population is unknown. Clinical description The nephrotic syndrome is defined by severe proteinuria with low serum albumin and possible edemas. This disease is rare but severe as it usually progresses to end-stage renal failure. Etiology Several causative mutations have recently been identified. Among these, mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms (10 to 30% of the cases depending on the series). However, the other genes responsible for autosomal recessive forms of the disease remain to be identified. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Mutations are mainly observed in exon 8. An autosomal dominant form has also been described in patients carrying mutations in the TRPC6 gene, located on chromosome 11 and coding for a calcium channel. Management and treatment Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. Recurrence of the disease in the grafted kidney after renal transplantation is exceptional. Visit the Orphanet disease page for more resources.

MalaCards based summary : Genetic Steroid-Resistant Nephrotic Syndrome, also known as familial idiopathic steroid-resistant nephrotic syndrome, is related to focal segmental glomerulosclerosis and nephrotic syndrome, type 2. An important gene associated with Genetic Steroid-Resistant Nephrotic Syndrome is NPHS2 (NPHS2 Stomatin Family Member, Podocin), and among its related pathways/superpathways are Signaling by Rho GTPases and Glycosaminoglycan metabolism. Affiliated tissues include kidney and b cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Genetic Steroid-Resistant Nephrotic Syndrome

Diseases related to Genetic Steroid-Resistant Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 30.7 WT1 NUP107 NPHS2 NPHS1 MYO1E INF2
2 nephrotic syndrome, type 2 30.3 NPHS2 NPHS1 INF2 ACTN4
3 nephrotic syndrome, type 1 30.2 WT1 NPHS2 NPHS1 CD2AP ACTN4
4 end stage renal failure 29.9 WT1 NUP205 NUP133 NUP107 NPHS2 NPHS1
5 familial nephrotic syndrome 29.6 WT1 NPHS2 NPHS1 MYO1E INF2 CRB2
6 nephrotic syndrome 28.2 WT1 NUP205 NUP160 NUP133 NUP107 NPHS2
7 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 12.8
8 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 12.7
9 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 12.7
10 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 12.7
11 crescentic glomerulonephritis 10.3 WT1 NPHS2 ACTN4
12 hypoparathyroidism, sensorineural deafness, and renal disease 10.3 NPHS2 NPHS1 ACTN4
13 glomerular disease 10.3 NPHS2 NPHS1 CD2AP
14 iga nephropathy 1 10.3 NPHS2 NPHS1
15 congenital syphilis 10.2 NPHS2 NPHS1
16 membranous nephropathy 10.2 NPHS2 NPHS1 CD2AP
17 diffuse mesangial sclerosis 10.2 WT1 NPHS2 NPHS1 ARHGDIA
18 idiopathic nephrotic syndrome 10.2
19 schimke immunoosseous dysplasia 10.2 NUP205 NUP107 NPHS2
20 focal segmental glomerulosclerosis 7 10.1 INF2 EMP2 CRB2 COQ8B
21 kidney hypertrophy 10.1 NPHS2 NPHS1
22 focal segmental glomerulosclerosis 9 10.1 INF2 EMP2 CRB2 COQ8B
23 denys-drash syndrome 10.1 WT1 NPHS2 NPHS1 CD2AP ACTN4
24 focal segmental glomerulosclerosis 5 10.1 NPHS2 INF2 CRB2 COQ8B ACTN4
25 pierson syndrome 10.1 WT1 NPHS2 NPHS1 INF2 ACTN4
26 wilms tumor 1 10.1 WT1 NPHS2 NPHS1 ACTN4
27 oligomeganephronia 10.1 NPHS2 NPHS1 INF2 COQ8B ACTN4
28 focal segmental glomerulosclerosis 8 10.1 INF2 EMP2 CRB2 COQ8B ANLN
29 lipoid nephrosis 10.0 WT1 NPHS2 NPHS1 INF2 CD2AP ACTN4
30 acute proliferative glomerulonephritis 10.0 NPHS2 NPHS1
31 nail-patella syndrome 10.0 WT1 NPHS2 NPHS1 INF2 CD2AP ACTN4
32 focal segmental glomerulosclerosis 2 10.0 NPHS2 NPHS1 INF2 CRB2 CD2AP ACTN4
33 focal segmental glomerulosclerosis 6 9.9 MYO1E INF2 CRB2 COQ8B ARHGAP24 ACTN4
34 kidney disease 9.9 WT1 NPHS2 NPHS1 CRB2 CD2AP ACTN4
35 autoimmune lymphoproliferative syndrome 9.8 NUP37 NUP160 NUP133 NUP107
36 focal segmental glomerulosclerosis 1 9.7 NPHS2 NPHS1 MYO1E INF2 CRB2 CD2AP
37 frasier syndrome 9.7 WT1 NUP107 NPHS2 NPHS1 INF2 COQ8B
38 galloway-mowat syndrome 9.6 WT1 NUP205 NUP133 NUP107 NPHS2 NPHS1

Graphical network of the top 20 diseases related to Genetic Steroid-Resistant Nephrotic Syndrome:



Diseases related to Genetic Steroid-Resistant Nephrotic Syndrome

Symptoms & Phenotypes for Genetic Steroid-Resistant Nephrotic Syndrome

GenomeRNAi Phenotypes related to Genetic Steroid-Resistant Nephrotic Syndrome according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.77 NUP107 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.77 NUP107
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.77 WT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.77 NUP107
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.77 NUP107
6 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.77 WT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.77 ANKFY1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.77 ARHGAP24 NUP107
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.77 NUP107
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.77 ARHGAP24 WT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.77 WT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.77 ANKFY1 ARHGAP24 NUP107 WT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.77 ANKFY1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.77 WT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.77 WT1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.77 WT1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.77 ARHGAP24
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.77 ARHGAP24
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.77 ARHGAP24
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.77 WT1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.77 NUP107
22 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.77 ANKFY1
23 Decreased p24 protein expression GR00163-A-1 9.26 GAPVD1 NUP107 NUP133 NUP160

MGI Mouse Phenotypes related to Genetic Steroid-Resistant Nephrotic Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ACTN4 ARHGDIA CD2AP CRB2 EMP2 INF2
2 embryo MP:0005380 9.56 ACTN4 ANKFY1 COQ8B CRB2 EMP2 INF2
3 renal/urinary system MP:0005367 9.17 ACTN4 ARHGDIA CD2AP MYO1E NPHS1 NPHS2

Drugs & Therapeutics for Genetic Steroid-Resistant Nephrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Genetic Steroid-Resistant Nephrotic Syndrome

Genetic Tests for Genetic Steroid-Resistant Nephrotic Syndrome

Anatomical Context for Genetic Steroid-Resistant Nephrotic Syndrome

MalaCards organs/tissues related to Genetic Steroid-Resistant Nephrotic Syndrome:

40
Kidney, B Cells

Publications for Genetic Steroid-Resistant Nephrotic Syndrome

Articles related to Genetic Steroid-Resistant Nephrotic Syndrome:

(show all 49)
# Title Authors PMID Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 6
30179222 2018
2
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 6
26878725 2016
3
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. 6
26740551 2016
4
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. 6
26411495 2015
5
Defects of CRB2 cause steroid-resistant nephrotic syndrome. 6
25557779 2015
6
Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. 6
24676636 2014
7
Mutations in PAX2 associate with adult-onset FSGS. 6
24676634 2014
8
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 6
24270420 2013
9
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. 6
23867502 2013
10
ARHGDIA: a novel gene implicated in nephrotic syndrome. 6
23434736 2013
11
MYO1E mutations and childhood familial focal segmental glomerulosclerosis. 6
21756023 2011
12
Disruption of PTPRO causes childhood-onset nephrotic syndrome. 6
21722858 2011
13
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. 6
20591883 2010
14
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. 6
20023659 2010
15
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 6
17853480 2007
16
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. 6
17109732 2007
17
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. 6
17086182 2006
18
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. 6
15924139 2005
19
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 6
15879175 2005
20
Broadening the spectrum of diseases related to podocin mutations. 6
12707396 2003
21
An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. 6
12050205 2002
22
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. 6
11805168 2002
23
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 6
11854170 2002
24
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. 6
11729243 2001
25
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 6
10742096 2000
26
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 6
10700177 2000
27
Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. 6
10200986 1999
28
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. 6
10094551 1999
29
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. 6
9607189 1998
30
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. 6
9529364 1998
31
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 6
9499425 1998
32
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 6
9398852 1997
33
A clinical overview of WT1 gene mutations. 6
9090524 1997
34
Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome. 6
8606597 1996
35
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. 6
8589695 1995
36
Inherited WT1 mutation in Denys-Drash syndrome. 6
1327525 1992
37
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 6
1338906 1992
38
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 6
1302008 1992
39
Alternative splicing and genomic structure of the Wilms tumor gene WT1. 6
1658787 1991
40
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 6
1655284 1991
41
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. 6
6307071 1983
42
[Diagnosis and treatment of hereditary steroid-resistant nephrotic syndrome]. 61
31352755 2019
43
B cell phenotype in pediatric idiopathic nephrotic syndrome. 61
30267238 2019
44
First Report of Recurrent Nephrotic Syndrome After Kidney Transplantation in a Patient With NUP93 Gene Mutations: A Case Report. 61
30577294 2018
45
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 61
29382718 2018
46
Genetics of hereditary nephrotic syndrome: a clinical review. 61
28392820 2017
47
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 61
26668027 2016
48
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. 61
23349334 2013
49
A novel domain regulating degradation of the glomerular slit diaphragm protein podocin in cell culture systems. 61
23437316 2013

Variations for Genetic Steroid-Resistant Nephrotic Syndrome

ClinVar genetic disease variations for Genetic Steroid-Resistant Nephrotic Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1):c.1447+5G>ASNV Pathogenic 3493 rs587776576 11:32413513-32413513 11:32391967-32391967
2 WT1 NM_024426.6(WT1):c.1447+4C>TSNV Pathogenic 3500 rs587776577 11:32413514-32413514 11:32391968-32391968
3 NPHS2 NM_014625.3(NPHS2):c.535-1G>TSNV Pathogenic 504890 rs1291398331 1:179526366-179526366 1:179557231-179557231
4 WT1 NM_024426.6(WT1):c.1265G>T (p.Gly422Val)SNV Likely pathogenic 222890 rs869025561 11:32414301-32414301 11:32392755-32392755
5 NPHS1 NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys)SNV Conflicting interpretations of pathogenicity 222761 rs114896482 19:36333389-36333389 19:35842487-35842487
6 NPHS1 NM_004646.3(NPHS1):c.3173C>T (p.Ser1058Leu)SNV Uncertain significance 180466 rs201503587 19:36322658-36322658 19:35831756-35831756

Expression for Genetic Steroid-Resistant Nephrotic Syndrome

Search GEO for disease gene expression data for Genetic Steroid-Resistant Nephrotic Syndrome.

Pathways for Genetic Steroid-Resistant Nephrotic Syndrome

Pathways related to Genetic Steroid-Resistant Nephrotic Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 NUP37 NUP160 NUP133 NUP107 ARHGDIA ARHGAP24
2
Show member pathways
12.68 NUP37 NUP205 NUP160 NUP133 NUP107
3
Show member pathways
12.57 NUP37 NUP205 NUP160 NUP133 NUP107
4
Show member pathways
12.53 NUP37 NUP205 NUP160 NUP133 NUP107
5
Show member pathways
12.41 NUP37 NUP205 NUP160 NUP133 NUP107
6
Show member pathways
12.38 NUP37 NUP160 NUP133 NUP107
7
Show member pathways
12.35 NUP37 NUP205 NUP160 NUP133 NUP107
8
Show member pathways
12.17 NUP37 NUP205 NUP160 NUP133 NUP107
9
Show member pathways
11.95 NUP37 NUP205 NUP160 NUP133 NUP107
10 11.87 NUP37 NUP205 NUP160 NUP133 NUP107
11
Show member pathways
11.77 NUP37 NUP205 NUP160 NUP133 NUP107
12
Show member pathways
11.35 NUP37 NUP205 NUP160 NUP133 NUP107
13 11.04 WT1 NPHS2 NPHS1 MYO1E INF2 CD2AP
14 11.02 NPHS2 NPHS1 CD2AP
15 10.89 NPHS1 CD2AP ACTN4

GO Terms for Genetic Steroid-Resistant Nephrotic Syndrome

Cellular components related to Genetic Steroid-Resistant Nephrotic Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.22 WT1 NUP37 NUP160 NUP133 NUP107 GAPVD1
2 extracellular exosome GO:0070062 10.11 NPHS2 NPHS1 MYO1E CRB2 CD2AP ARHGDIA
3 actin cytoskeleton GO:0015629 9.76 MYO1E CD2AP ANLN ACTN4
4 condensed chromosome kinetochore GO:0000777 9.67 NUP37 NUP133 NUP107
5 cell-cell junction GO:0005911 9.67 NPHS2 MYO1E CD2AP ACTN4
6 nuclear envelope GO:0005635 9.65 NUP37 NUP205 NUP160 NUP133 NUP107
7 kinetochore GO:0000776 9.62 NUP37 NUP160 NUP133 NUP107
8 nuclear pore GO:0005643 9.55 NUP37 NUP205 NUP160 NUP133 NUP107
9 nuclear periphery GO:0034399 9.48 NUP205 NUP107
10 slit diaphragm GO:0036057 9.43 NPHS2 NPHS1
11 host cell GO:0043657 9.35 NUP37 NUP205 NUP160 NUP133 NUP107
12 nuclear pore outer ring GO:0031080 8.92 NUP37 NUP160 NUP133 NUP107

Biological processes related to Genetic Steroid-Resistant Nephrotic Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10 NUP37 NUP205 NUP160 NUP133 NUP107 ACTN4
2 viral process GO:0016032 9.95 NUP37 NUP205 NUP160 NUP133 NUP107
3 mRNA transport GO:0051028 9.85 NUP37 NUP205 NUP160 NUP133 NUP107
4 viral transcription GO:0019083 9.83 NUP37 NUP205 NUP160 NUP133 NUP107
5 mRNA export from nucleus GO:0006406 9.8 NUP37 NUP205 NUP160 NUP133 NUP107
6 regulation of gene silencing by miRNA GO:0060964 9.77 NUP37 NUP205 NUP160 NUP133 NUP107
7 regulation of cellular response to heat GO:1900034 9.72 NUP37 NUP205 NUP160 NUP133 NUP107
8 nephron development GO:0072006 9.67 NUP160 NUP133 NUP107
9 glomerular basement membrane development GO:0032836 9.65 WT1 NPHS1 MYO1E
10 protein sumoylation GO:0016925 9.65 NUP37 NUP205 NUP160 NUP133 NUP107
11 regulation of actin cytoskeleton reorganization GO:2000249 9.57 CD2AP ARHGDIA
12 nuclear pore complex assembly GO:0051292 9.56 NUP205 NUP107
13 intracellular transport of virus GO:0075733 9.55 NUP37 NUP205 NUP160 NUP133 NUP107
14 glomerular visceral epithelial cell development GO:0072015 9.54 NPHS1 MYO1E
15 positive regulation of pinocytosis GO:0048549 9.51 ANKFY1 ACTN4
16 regulation of glycolytic process GO:0006110 9.35 NUP37 NUP205 NUP160 NUP133 NUP107
17 tRNA export from nucleus GO:0006409 9.02 NUP37 NUP205 NUP160 NUP133 NUP107

Molecular functions related to Genetic Steroid-Resistant Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 MYO1E INF2 ANLN ACTN4
2 structural constituent of nuclear pore GO:0017056 8.92 NUP205 NUP160 NUP133 NUP107

Sources for Genetic Steroid-Resistant Nephrotic Syndrome

3 CDC
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9 Cosmic
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11 DGIdb
17 EFO
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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