MCID: CRS001
MIFTS: 42

Crescentic Glomerulonephritis

Categories: Nephrological diseases

Aliases & Classifications for Crescentic Glomerulonephritis

MalaCards integrated aliases for Crescentic Glomerulonephritis:

Name: Crescentic Glomerulonephritis 12 6 15
Idiopathic Crescentic Glomerulonephritis 70

Classifications:



External Ids:

Disease Ontology 12 DOID:13139
NCIt 50 C128143
SNOMED-CT 67 45406000
UMLS 70 C0403416

Summaries for Crescentic Glomerulonephritis

MalaCards based summary : Crescentic Glomerulonephritis, also known as idiopathic crescentic glomerulonephritis, is related to rapidly progressive glomerulonephritis and goodpasture syndrome. An important gene associated with Crescentic Glomerulonephritis is PRTN3 (Proteinase 3), and among its related pathways/superpathways are Innate Immune System and Integrin Pathway. The drugs Methylprednisolone and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include kidney, neutrophil and t cells, and related phenotypes are cardiovascular system and hematopoietic system

Related Diseases for Crescentic Glomerulonephritis

Diseases related to Crescentic Glomerulonephritis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 403)
# Related Disease Score Top Affiliating Genes
1 rapidly progressive glomerulonephritis 32.9 PRTN3 MPO ICAM1
2 goodpasture syndrome 32.3 VCAM1 PRTN3 MPO
3 proteinuria, chronic benign 31.7 SYNPO NPHS2 ACTN4
4 anca-associated vasculitis 31.5 PRTN3 MPO
5 pauci-immune glomerulonephritis 31.5 SYNPO CCN2
6 membranous nephropathy 31.3 WT1 NPHS2 MPO
7 anti-basement membrane glomerulonephritis 31.2 PRTN3 MPO
8 endocarditis 31.1 VCAM1 SERPINE1 CCL4
9 polyarteritis nodosa 31.0 VCAM1 PRTN3 MPO ICAM1
10 end stage renal disease 31.0 NPHS2 ICAM1 CCL2 ACTN4
11 proliferative glomerulonephritis 31.0 MPO CCR5 CCN2 CCL3 CCL2
12 autoimmune disease 31.0 VCAM1 PRTN3 MPO CCR5 CCL2
13 immune-complex glomerulonephritis 30.9 VCAM1 MPO ICAM1 CCR5
14 mesangial proliferative glomerulonephritis 30.9 CCR5 CCL3 CCL2
15 iga glomerulonephritis 30.8 SCGB1A1 PRTN3 NPHS2 ICAM1 CCL2
16 vasculitis 30.8 VCAM1 PRTN3 MPO LCN2 ICAM1 CTSG
17 nephrotic syndrome 30.8 WT1 SYNPO PTPRO NPHS2 ACTN4
18 glomerulonephritis 30.8 VCAM1 SCGB1A1 PRTN3 NPHS2 MPO LCN2
19 henoch-schoenlein purpura 30.8 VCAM1 PRTN3 MPO ICAM1
20 pulmonary hemosiderosis 30.7 PRTN3 MPO
21 rheumatoid vasculitis 30.6 VCAM1 ICAM1
22 mononeuritis multiplex 30.4 PRTN3 MPO
23 scleritis 30.4 PRTN3 MPO CCL2
24 bronchiectasis 30.4 MPO CTSG BPI
25 subacute bacterial endocarditis 30.4 PRTN3 MPO
26 granulomatosis with polyangiitis 30.3 PRTN3 MPO CTSG CCR5 BPI
27 proteasome-associated autoinflammatory syndrome 1 30.3 VCAM1 MPO ICAM1 CCL3 CCL2
28 aortitis 30.3 PRTN3 MPO
29 pulmonary tuberculosis 30.3 CCL4 CCL3 CCL2
30 pulmonary sarcoidosis 30.3 ICAM1 CCR5 CCL3 CCL2
31 rheumatoid arthritis 30.2 VCAM1 PRTN3 MPO ICAM1 CTSG CCR5
32 sarcoidosis 1 30.2 SCGB1A1 ICAM1 CCR5 CCL4 CCL3 CCL2
33 uveitis 30.2 ICAM1 CCR5 CCL4 CCL2
34 meningitis 30.2 ICAM1 CCL4 CCL3 CCL2
35 disease by infectious agent 30.2 PRTN3 CCR5 CCL4 CCL3
36 arteriosclerosis 30.1 VCAM1 SERPINE1 ICAM1 CCR5 CCL2
37 nephrotic syndrome, type 1 30.1 WT1 NPHS2 ACTN4
38 alport syndrome 30.1 SYNPO PTPRO NPHS2 ACTN4
39 lipoid nephrosis 30.1 SYNPO NPHS2 CCL2 ACTN4
40 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.1 WT1 NPHS2 ACTN4
41 interstitial lung disease 30.1 SERPINE1 PRTN3 ICAM1 CCL2
42 pulmonary fibrosis 30.0 SERPINE1 CCN2 CCL3 CCL2
43 nephrosclerosis 30.0 SYNPO NPHS2 MPO CCN2 CCL2
44 immune deficiency disease 29.9 CTSG CCR5 CCL4 CCL3 CCL2
45 vascular disease 29.9 VCAM1 SERPINE1 MPO ICAM1 CCL2
46 respiratory failure 29.9 SCGB1A1 MPO ICAM1 CCL2
47 acute proliferative glomerulonephritis 29.9 SYNPO PRTN3 NPHS2 MPO CTSG CCL2
48 kidney disease 29.8 WT1 VCAM1 SERPINE1 PRTN3 NPHS2 LCN2
49 focal segmental glomerulosclerosis 29.7 WT1 SYNPO PTPRO NPHS2 LCN2 CCL2
50 familial nephrotic syndrome 29.7 WT1 SYNPO PTPRO NPHS2 ACTN4

Graphical network of the top 20 diseases related to Crescentic Glomerulonephritis:



Diseases related to Crescentic Glomerulonephritis

Symptoms & Phenotypes for Crescentic Glomerulonephritis

MGI Mouse Phenotypes related to Crescentic Glomerulonephritis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ACTN4 CCN2 CCR5 ICAM1 LCN2 MPO
2 hematopoietic system MP:0005397 10 ACTN4 CCR5 CTSG ICAM1 LCN2 MPO
3 immune system MP:0005387 9.93 ACTN4 CCL2 CCR5 CTSG ICAM1 LCN2
4 neoplasm MP:0002006 9.5 ACTN4 CCR5 CTSG ICAM1 SCGB1A1 SERPINE1
5 renal/urinary system MP:0005367 9.23 ACTN4 LCN2 NPHS2 PTPRO SCGB1A1 SERPINE1

Drugs & Therapeutics for Crescentic Glomerulonephritis

Drugs for Crescentic Glomerulonephritis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
2
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
3
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
4
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
5
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
7
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
8
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
9 Immunosuppressive Agents Phase 2, Phase 3
10 Protective Agents Phase 2, Phase 3
11 Immunoglobulin A Phase 2, Phase 3
12 Gastrointestinal Agents Phase 2, Phase 3
13 Methylprednisolone Acetate Phase 2, Phase 3
14 Hormones Phase 2, Phase 3
15 Antiemetics Phase 2, Phase 3
16 Neuroprotective Agents Phase 2, Phase 3
17 Hormone Antagonists Phase 2, Phase 3
18 Anti-Inflammatory Agents Phase 2, Phase 3
19 glucocorticoids Phase 2, Phase 3
20 Antineoplastic Agents, Hormonal Phase 2, Phase 3
21
Lisinopril Approved, Investigational Phase 2 83915-83-7, 76547-98-3 5362119
22
protease inhibitors Phase 2
23 Cardiotonic Agents Phase 2
24 Angiotensin-Converting Enzyme Inhibitors Phase 2
25 Antihypertensive Agents Phase 2
26 HIV Protease Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Trial of Plasma Exchange as Adjunctive Therapy for Severe Crescentic GlomerUlonephritis of IgA NEphropathy (RESCUE Study) Enrolling by invitation NCT02647255 Phase 2, Phase 3 Methylprednisolone pulse
2 A Pilot, Prospective, Randomized, Open-label, Blinded Endpoint (Probe) Histopathology Trial to Assess the Effects of ACE- Inhibition Therapy on Glomerular Proliferative Lesions in Patients With Extracapillary Glomerulonephritis Unknown status NCT02682459 Phase 2 Lisinopril

Search NIH Clinical Center for Crescentic Glomerulonephritis

Genetic Tests for Crescentic Glomerulonephritis

Anatomical Context for Crescentic Glomerulonephritis

MalaCards organs/tissues related to Crescentic Glomerulonephritis:

40
Kidney, Neutrophil, T Cells, Endothelial, Bone Marrow, Heart, Lung

Publications for Crescentic Glomerulonephritis

Articles related to Crescentic Glomerulonephritis:

(show top 50) (show all 1868)
# Title Authors PMID Year
1
ANCA-associated pauci-immune necrotizing glomerulonephritis during the treatment with pembrolizumab. 61
32691143 2021
2
Glomerular Macrophages in Human Auto- and Allo-Immune Nephritis. 61
33803230 2021
3
A Rare and Severe Presentation of Henoch-Schönlein Purpura in an Adolescent With Crescentic Glomerulonephritis, Arrhythmia, Acute Gastrointestinal Bleed, and Neurological Complications. 61
33796429 2021
4
The clinical features of overlap syndrome (ANCA-associated crescentic glomerulonephritis [AACGN] and immune complex-mediated glomerulonephritis) are similar to those of AACGN alone. 61
33025405 2021
5
Spectrum of Kidney Involvement in Patients with Myelodysplastic Syndromes. 61
33732989 2021
6
Heightened Crescentic Glomerulonephritis in Immune Challenged 129sv Mice Is TGF-β/Smad3 Dependent. 61
33669690 2021
7
Lung adenocarcinoma and sequential antineutrophil cytoplasmic antibody-associated vasculitis: a case report. 61
33596705 2021
8
Fibrillary glomerulonephritis or complement 3 glomerulopathy: a rare case of diffuse necrotising crescentic glomerulonephritis with C3-dominant glomerular deposition and positive DNAJB9. 61
33602773 2021
9
SARS-CoV-2 infection and recurrence of anti-glomerular basement disease: a case report. 61
33639869 2021
10
Anti-glomerular Basement Membrane Disease with Antiphospholipid Syndrome. 61
33612667 2021
11
A Case of Rapidly Proliferative Glomerulonephritis Secondary to Syphilis That Responded to Treatment With Penicillin. 61
33777557 2021
12
Clinical Implications of Steroid Therapy for Crescentic Glomerulonephritis and Gemella morbillorum-associated Infective Endocarditis. 61
32921686 2021
13
Antineutrophil Cytoplasmic Antibody-Associated Glomerulonephritis in a Case of Scleroderma After Recent Diagnosis With COVID-19. 61
33564500 2021
14
Rapidly progressive glomerulonephritis after introduction of certolizumab pegol: a case report. 61
32687015 2021
15
Systemic lupus erythematosus and antineutrophil cytoplasmic antibody-associated vasculitis overlap syndrome in a 77-year-old man: A case report. 61
33553412 2021
16
The development of rapidly progressive glomerulonephritis associated with both antineutrophil cytoplasmic antibody-associated vasculitis and anti-glomerular basement membrane nephritis in the course of nontuberculous mycobacterium infection: a case report. 61
33308324 2020
17
Propylthiouracil-Induced Anti-Neutrophil Cytoplasmic Antibody Vasculitis Presenting with Red Eye Followed by Pulmonary Hemorrhage: Diagnostic and Management Considerations. 61
33293503 2020
18
Impaired HVJ-stimulated Interferon producing capacity in MPO-ANCA-associated vasculitis with rapidly progressive glomerulonephritis lead to susceptibility to infection. 61
32828064 2020
19
The rise of complement in ANCA-associated vasculitis: from marginal player to target of modern therapy. 61
32946609 2020
20
An Unusual Presentation of Pauci-Immune Necrotizing Glomerulonephritis. 61
33489567 2020
21
ANCA-associated nephritis without crescent formation has atypical clinicopathological features: a multicenter retrospective study. 61
32651749 2020
22
Rare renal pathologic manifestation of antineutrophil cytoplasmic antibodies associated vasculitis as suppurative interstitial nephritis: A case report and review of the literature. 61
33565458 2020
23
Fibrillary glomerulonephritis presenting as crescentic glomerulonephritis in a young female: a case study. 61
32657244 2020
24
Anemia in Diabetic Patients Reflects Severe Tubulointerstitial Injury and Aids in Clinically Predicting a Diagnosis of Diabetic Nephropathy. 61
33250462 2020
25
Adult-onset IgA vasculitis (Henoch-Schönlein): Update on therapy. 61
32645417 2020
26
Urine soluble CD163 (sCD163) as biomarker in glomerulonephritis: stability, reference interval and diagnostic performance. 61
33068375 2020
27
Relapsing polychondritis associated with pauci-immune crescentic glomerulonephritis. 61
33543713 2020
28
A rare complication of pauci-immune crescentic glomerulonephritis in a child: Questions. 61
33057768 2020
29
Neutrophils are key mediators in crescentic glomerulonephritis and targets for new therapeutic approaches. 61
33057680 2020
30
A rare complication of pauci-immune crescentic glomerulonephritis in a child: Answers. 61
33057767 2020
31
MAD2B contributes to parietal epithelial cell activation and crescentic glomerulonephritis via Skp2. 61
32830536 2020
32
Coexistence of antineutrophil cytoplasmic antibody-associated vasculitis and membranous nephropathy: a case report. 61
33040542 2020
33
AA Amyloidosis Presenting as Crescentic Glomerulonephritis. 61
33707828 2020
34
Kidney GATA3+ regulatory T cells play roles in the convalescence stage after antibody-mediated renal injury. 61
32917984 2020
35
VISTA deficiency protects from immune complex-mediated glomerulonephritis by inhibiting neutrophil activation. 61
32586651 2020
36
ANCA vasculitis and IgA nephropathy linked to silica exposure. 61
32678425 2020
37
Crescentic IgA nephropathy after administration of human monoclonal interleukin-12/23p40 antibody in a patient with Crohn's disease: a case report. 61
32100251 2020
38
Antibody-mediated rejection with the presence of glomerular crescents in a pediatric kidney transplant recipient: A case report. 61
32437064 2020
39
Successful simultaneous liver-kidney transplantation for renal failure associated with hereditary complement C3 deficiency. 61
31970896 2020
40
Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases. 61
32820208 2020
41
Renal Survival in Children with Glomerulonephritis with Crescents: A Pediatric Nephrology Research Consortium Cohort Study. 61
32722612 2020
42
Eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome). 61
32844923 2020
43
A case of eosinophilic granulomatosis with polyangiitis as a mimicker of IgG4-related disease. 61
33087011 2020
44
Rapidly progressive glomerulonephritis and acute kidney injury associated with cocaine use - Case report. 61
32573647 2020
45
Spleen tyrosine kinase inhibition is an effective treatment for established vasculitis in a pre-clinical model. 61
32305129 2020
46
The glomerular crescent: triggers, evolution, resolution, and implications for therapy. 61
32132388 2020
47
Parietal epithelial cells role in repair versus scarring after glomerular injury. 61
32235272 2020
48
A Case of Myeloma Kidney with Perinuclear Anti-Neutrophil Cytoplasmic Antibody and Anti-Myeloperoxidase Positivity: The Importance of Determining the True Cause of Renal Impairment. 61
32884934 2020
49
Narrative Review of Hypercoagulability in Small-Vessel Vasculitis. 61
32405580 2020
50
Crescentic glomerulonephritis in children. 61
32052153 2020

Variations for Crescentic Glomerulonephritis

ClinVar genetic disease variations for Crescentic Glomerulonephritis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEL NM_001807.5(CEL):c.1966G>C (p.Ala656Pro) SNV Uncertain significance 128688 rs587780309 GRCh37: 9:135946855-135946855
GRCh38: 9:133071468-133071468

Expression for Crescentic Glomerulonephritis

Search GEO for disease gene expression data for Crescentic Glomerulonephritis.

Pathways for Crescentic Glomerulonephritis

Pathways related to Crescentic Glomerulonephritis according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 VCAM1 TNFRSF6B PRTN3 MPO LCN2 ICAM1
2
Show member pathways
13.25 VCAM1 SERPINE1 ICAM1 CCR5 CCL4 CCL3
3
Show member pathways
13.12 PTPRO CCR5 CCN2 CCL4 CCL3 CCL2
4
Show member pathways
13.08 VCAM1 TNFRSF6B PRTN3 LCN2 ICAM1 CCR5
5
Show member pathways
13.06 VCAM1 SERPINE1 ICAM1 CCL4 CCL3 CCL2
6
Show member pathways
12.18 SERPINE1 MPO ICAM1 CCL2
7
Show member pathways
12.17 CCR5 CCL4 CCL3 CCL2
8
Show member pathways
12.16 PRTN3 LCN2 CTSG BPI
9 11.82 VCAM1 SERPINE1 ICAM1 CCN2
10 11.77 VCAM1 ICAM1 CCL4
11 11.76 VCAM1 LCN2 ICAM1 CCL2
12 11.7 ICAM1 CCL3 CCL2
13 11.67 VCAM1 SERPINE1 ICAM1 CCL2
14 11.42 WT1 SYNPO PTPRO NPHS2 ACTN4
15 11.37 VCAM1 ICAM1 CCL2
16 11.36 CCN2 CCL4 CCL3 CCL2
17 11.33 MPO ICAM1 CCN2
18 11.04 ICAM1 CCR5 CCL4 CCL3 CCL2
19 10.23 VCAM1 MPO ICAM1 CCL3 CCL2

GO Terms for Crescentic Glomerulonephritis

Cellular components related to Crescentic Glomerulonephritis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.93 VCAM1 SERPINE1 SCGB1A1 PTPRO PRTN3 NPHS2
2 extracellular region GO:0005576 9.77 TNFRSF6B SERPINE1 SCGB1A1 PRTN3 MPO LCN2
3 collagen-containing extracellular matrix GO:0062023 9.72 SERPINE1 PRTN3 ICAM1 CTSG CCN2
4 azurophil granule lumen GO:0035578 9.56 PRTN3 MPO CTSG BPI
5 secretory granule GO:0030141 9.54 SCGB1A1 MPO CTSG
6 extracellular space GO:0005615 9.5 VCAM1 TNFRSF6B SERPINE1 SCGB1A1 PRTN3 MPO

Biological processes related to Crescentic Glomerulonephritis according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 10.02 PRTN3 MPO LCN2 CTSG BPI
2 immune response GO:0006955 10 CTSG CCR5 CCL4 CCL3 CCL2 BPI
3 positive regulation of GTPase activity GO:0043547 9.96 PRTN3 ICAM1 CCL4 CCL3 CCL2
4 defense response to bacterium GO:0042742 9.94 MPO LCN2 CTSG BPI
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 ICAM1 CCN2 CCL4 CCL3 CCL2
6 chemotaxis GO:0006935 9.87 CCR5 CCL4 CCL3 CCL2
7 defense response to Gram-negative bacterium GO:0050829 9.81 SERPINE1 CTSG BPI
8 cellular response to interferon-gamma GO:0071346 9.81 ICAM1 CCL4 CCL3 CCL2
9 neutrophil chemotaxis GO:0030593 9.8 CCL4 CCL3 CCL2
10 cell chemotaxis GO:0060326 9.8 VCAM1 CCR5 CCL3 CCL2
11 response to lipopolysaccharide GO:0032496 9.8 VCAM1 SCGB1A1 MPO ICAM1 CTSG
12 chemokine-mediated signaling pathway GO:0070098 9.73 CCR5 CCL4 CCL3 CCL2
13 lymphocyte chemotaxis GO:0048247 9.72 CCL4 CCL3 CCL2
14 lipopolysaccharide-mediated signaling pathway GO:0031663 9.71 CCL3 CCL2 BPI
15 antimicrobial humoral response GO:0019730 9.67 PRTN3 LCN2 CTSG BPI
16 positive regulation of calcium ion import GO:0090280 9.66 CCL3 CCL2
17 positive regulation of calcium-mediated signaling GO:0050850 9.66 CCL4 CCL3
18 macrophage chemotaxis GO:0048246 9.65 CCL3 CCL2
19 cellular response to nutrient levels GO:0031669 9.65 LCN2 ICAM1
20 negative regulation by host of viral transcription GO:0043922 9.65 CCL4 CCL3
21 cellular response to interleukin-1 GO:0071347 9.65 LCN2 ICAM1 CCL4 CCL3 CCL2
22 response to cholesterol GO:0070723 9.64 CCR5 CCL3
23 eosinophil chemotaxis GO:0048245 9.63 CCL4 CCL3 CCL2
24 cellular response to lipopolysaccharide GO:0071222 9.63 SERPINE1 LCN2 ICAM1 CTSG CCR5 CCL2
25 signaling GO:0023052 9.62 CCR5 CCL3
26 monocyte chemotaxis GO:0002548 9.62 PTPRO CCL4 CCL3 CCL2
27 glomerular visceral epithelial cell differentiation GO:0072112 9.61 WT1 PTPRO
28 glomerulus development GO:0032835 9.61 WT1 PTPRO
29 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.6 CCR5 CCL3
30 positive regulation of natural killer cell chemotaxis GO:2000503 9.59 CCL4 CCL3
31 astrocyte cell migration GO:0043615 9.58 CCL3 CCL2
32 membrane to membrane docking GO:0022614 9.58 VCAM1 ICAM1
33 cellular response to tumor necrosis factor GO:0071356 9.43 VCAM1 LCN2 ICAM1 CCL4 CCL3 CCL2
34 cytokine-mediated signaling pathway GO:0019221 9.23 VCAM1 PRTN3 LCN2 ICAM1 CCR5 CCL4

Molecular functions related to Crescentic Glomerulonephritis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemokine activity GO:0008009 9.33 CCL4 CCL3 CCL2
2 CCR5 chemokine receptor binding GO:0031730 9.32 CCL4 CCL3
3 CCR1 chemokine receptor binding GO:0031726 9.26 CCL4 CCL3
4 integrin binding GO:0005178 9.26 VCAM1 ICAM1 CCN2 ACTN4
5 CCR chemokine receptor binding GO:0048020 8.8 CCL4 CCL3 CCL2

Sources for Crescentic Glomerulonephritis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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