Tn Polyagglutination Syndrome (TNPS)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Tn Polyagglutination Syndrome

MalaCards integrated aliases for Tn Polyagglutination Syndrome:

Name: Tn Polyagglutination Syndrome 57 12 72 6 15 39
Galactosyltransferase Deficiency 57 12 72
Tn Syndrome 72 36 70
Tn Polyagglutination Syndrome, Somatic 57 13
Tnps 57 72



tn polyagglutination syndrome:
Inheritance somatic mutation


External Ids:

Disease Ontology 12 DOID:0080520
OMIM® 57 300622
KEGG 36 H01188
MeSH 44 D006402
MedGen 41 C0272137
SNOMED-CT via HPO 68 12222001 124975008 85828009
UMLS 70 C0272137

Summaries for Tn Polyagglutination Syndrome

OMIM® : 57 Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000). Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1; 610555), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008). (300622) (Updated 05-Apr-2021)

MalaCards based summary : Tn Polyagglutination Syndrome, also known as galactosyltransferase deficiency, is related to ehlers-danlos syndrome, spondylodysplastic type, 1 and congenital disorder of glycosylation, type iid. An important gene associated with Tn Polyagglutination Syndrome is C1GALT1C1 (C1GALT1 Specific Chaperone 1), and among its related pathways/superpathways are Mucin type O-glycan biosynthesis and Innate Immune System. The drugs Progesterone and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, pancreas and brain, and related phenotypes are autoimmunity and abnormal erythrocyte morphology

Disease Ontology : 12 A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has material basis in somatic mutation in the C1GALT1C1 gene on chromosome Xq24.

KEGG : 36 Tn syndrome is a rare autoimmune disease characterized by the expression of the Tn antigen, an incompletely glycosylated membrane glycoprotein, on all blood cell lineages. The epitope of the Tn antigen is terminal alpha-N-acetylgalactosamine alpha-linked to either a serine or threonine amino-acid residue. The defect may be due to a malfunction of the glycosylating enzyme T-synthase. Tn syndrome is associated with a somatic mutation in Cosmc gene, encoding a molecular chaperone that is required for the proper folding and hence full activity of T-synthase.

UniProtKB/Swiss-Prot : 72 Tn polyagglutination syndrome: A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders.

Related Diseases for Tn Polyagglutination Syndrome

Diseases related to Tn Polyagglutination Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, spondylodysplastic type, 1 11.2
2 congenital disorder of glycosylation, type iid 11.1
3 ehlers-danlos syndrome, spondylodysplastic type, 2 11.1
4 spondylodysplastic ehlers-danlos syndrome 11.1
5 cystadenofibroma 10.2 MUC16 MUC1
6 adenofibroma 10.2 MUC16 MUC1
7 filamentary keratitis 10.2 MUC16 MUC1
8 pericardial mesothelioma 10.1 MUC16 MUC1
9 colorectal cancer, hereditary nonpolyposis, type 8 10.1 MUC16 MUC1
10 neutropenia 10.1
11 pancytopenia 10.1
12 mucinous cystadenocarcinoma 10.1 MUC16 MUC1
13 cystadenocarcinoma 10.1 MUC16 MUC1
14 polycystic liver disease 1 with or without kidney cysts 10.1 MUC16 MUC1
15 pseudomyxoma peritonei 10.1 MUC16 MUC1
16 ovarian cystadenocarcinoma 10.1 MUC16 MUC1
17 peritoneal mesothelioma 10.1 MUC16 MUC1
18 papillary adenocarcinoma 10.1 MUC16 MUC1
19 cystadenoma 10.1 MUC16 MUC1
20 mucinous adenocarcinoma 10.1 MUC16 MUC1
21 pancreatic ductal carcinoma 10.1 MUC16 MUC1
22 basosquamous carcinoma 10.0 MUC15 MUC12
23 ovary adenocarcinoma 10.0 MUC16 MUC1
24 biliary papillomatosis 10.0 MUC17 MUC1
25 mastitis 10.0 MUC16 MUC1
26 malignant ovarian surface epithelial-stromal neoplasm 10.0 MUC16 MUC1
27 ovary epithelial cancer 9.9 MUC16 MUC1
28 autoimmune disease 9.8
29 myelodysplastic syndrome 9.8
30 paroxysmal nocturnal hemoglobinuria 9.8
31 iga glomerulonephritis 9.8
32 hemoglobinuria 9.8
33 hemolytic anemia 9.8
34 mesothelioma, malignant 9.8 MUC16 MUC1
35 colorectal cancer 1 8.6 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12

Graphical network of the top 20 diseases related to Tn Polyagglutination Syndrome:

Diseases related to Tn Polyagglutination Syndrome

Symptoms & Phenotypes for Tn Polyagglutination Syndrome

Human phenotypes related to Tn Polyagglutination Syndrome:

# Description HPO Frequency HPO Source Accession
1 autoimmunity 31 HP:0002960
2 abnormal erythrocyte morphology 31 HP:0001877

Clinical features from OMIM®:

300622 (Updated 05-Apr-2021)

Drugs & Therapeutics for Tn Polyagglutination Syndrome

Drugs for Tn Polyagglutination Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
Ethanol Approved Phase 4 64-17-5 702
Nicotine Approved Phase 4 54-11-5 942 89594
4 Hormone Antagonists Phase 4
5 Hormones Phase 4
6 Progestins Phase 4
7 Analgesics, Opioid Phase 4
8 Central Nervous System Stimulants Phase 4
9 Neurotransmitter Agents Phase 4
10 Nicotinic Agonists Phase 4
11 Cholinergic Agents Phase 4
Vancomycin Approved Phase 2 1404-90-6 14969 441141
Pancrelipase Approved, Investigational Phase 2 53608-75-6
Gemcitabine Approved Phase 2 95058-81-4 60750
15 Anti-Infective Agents Phase 2
16 Angiogenesis Inhibitors Phase 2
17 Antibiotics, Antitubercular Phase 2
18 pancreatin Phase 2
19 O-(Chloroacetylcarbamoyl)fumagillol Phase 2
20 Anti-Bacterial Agents Phase 2
21 Antipsychotic Agents

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Progesterone Augmentation of Nicotine Replacement Therapy Study Completed NCT02685072 Phase 4 Progesterone (200 mgs BID);Placebo
2 Addressing Racial/Ethnic Tobacco Health Disparities Via Group Intervention Completed NCT02511236 Phase 4 Transdermal Nicotine Patch
3 The Impact of Opioid Misuse on Tobacco Smoking Cessation Not yet recruiting NCT03857139 Phase 4 Nicotine patch
4 Pilot Trial of a Smoking Cessation Intervention Informed by Construal Level Theory Terminated NCT03072511 Phase 4 Transdermal Nicotine Patch
5 Phase 2, Double-Blind, Randomized, Multicenter, Parallel, Controlled Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of TNP-2092 to Treat Acute Bacterial Skin and Skin Structure Infection in Adults Completed NCT03964493 Phase 2 TNP-2092;Vancomycin
6 Phase II Study of Gemcitabine-Based Chemoradiation and TNP-470 for Patients With Locally Advanced, Nonmetastatic Adenocarcinoma of the Pancreas Terminated NCT00038701 Phase 2 TNP-470
7 A Phase I Study of TNP-470 in the Treatment of AIDS-Associated Kaposi's Sarcoma Completed NCT00000763 Phase 1 TNP-470
8 Prevention and/or Reduction of Hemorrhoids and/or Thrombosed External Hemorrhoids (TEH) Using the HEM-AVERT Perianal Stabilizer Instrument Completed NCT00487045 Phase 1
9 An Open-Label Study to Evaluate Tissue Distribution, Plasma Pharmacokinetics, Safety, and Tolerability After a Single Intravenous Dose of TNP-2092 in Adult Participants Undergoing Primary Total Hip or Knee Arthroplasty Recruiting NCT04294862 Phase 1 TNP-2092
10 Effects of rTMS on Smoking Cessation and Cognitive Outcomes in Outpatients With Schizophrenia Treated With Transdermal Nicotine Patch Completed NCT00736710
11 The Prevention Program for Alzheimer's Related Delirium (PREPARED) Cluster Randomized Trial Recruiting NCT03718156

Search NIH Clinical Center for Tn Polyagglutination Syndrome

Genetic Tests for Tn Polyagglutination Syndrome

Anatomical Context for Tn Polyagglutination Syndrome

MalaCards organs/tissues related to Tn Polyagglutination Syndrome:

Skin, Pancreas, Brain, Colon, Liver, Breast, T Cells

Publications for Tn Polyagglutination Syndrome

Articles related to Tn Polyagglutination Syndrome:

(show top 50) (show all 161)
# Title Authors PMID Year
New mutations in C1GALT1C1 in individuals with Tn positive phenotype. 57 6
18537974 2008
Protein glycosylation: chaperone mutation in Tn syndrome. 57 6
16251947 2005
Red blood cell polyagglutination: clinical aspects. 57
10791887 2000
Presence of the Tn antigen on hematopoietic progenitors from patients with the Tn syndrome. 57
3973016 1985
Selective deficiency of 3-beta-d-galactosyltransferase (T-transferase) in Tn-polyagglutinable erythrocytes. 57
76801 1978
Acquired hemolytic anemia with polyagglutinability of red blood cells due to a new factor present in normal human serum (Anti-Tn). 57
13814231 1959
Nanoparticles-EPS corona increases the accumulation of heavy metals and biotoxicity of nanoparticles. 61
33218909 2021
Machine Learning Methods to Predict the Terrestrial and Marine Origin of Natural Products. 61
33787065 2021
880 nm NIR-Triggered Organic Small Molecular-Based Nanoparticles for Photothermal Therapy of Tumor. 61
33803677 2021
Enhancing Nonfouling and Sensitivity of Surface-Enhanced Raman Scattering Substrates for Potent Drug Analysis in Blood Plasma via Fabrication of a Flexible Plasmonic Patch. 61
33432809 2021
Old is Gold: Electrolyte Aging Influences the Topography, Chemistry, and Bioactivity of Anodized TiO2 Nanopores. 61
33570904 2021
Antigen- and Epitope-Delivering Nanoparticles Targeting Liver Induce Comparable Immunotolerance in Allergic Airway Disease and Anaphylaxis as Nanoparticle-Delivering Pharmaceuticals. 61
33351586 2021
Inactivation of Human Coronavirus by Titania Nanoparticle Coatings and UVC Radiation: Throwing Light on SARS-CoV-2. 61
33374195 2020
Curcumin incorporated titanium dioxide nanoparticles as MRI contrasting agent for early diagnosis of atherosclerosis- rat model. 61
32734023 2020
Mitigating effects of Bean yellow mosaic virus infection in faba bean using new carboxymethyl chitosan-titania nanobiocomposites. 61
32659403 2020
Optimization of electromagnetic hot spots in surface-enhanced Raman scattering substrates for an ultrasensitive drug assay of emergency department patients' plasma. 61
32969415 2020
Injection of Steroid in Nasal Polyps: A Systematic Review. 61
32579018 2020
Chondroitin sulfate conjugation facilitates tumor cell internalization of albumin nanoparticles for brain-targeted delivery of temozolomide via CD44 receptor-mediated targeting. 61
33026610 2020
(Gold triangular nanoplate core)@(silver shell) nanostructures as highly sensitive and selective plasmonic nanoprobes for hydrogen sulfide detection. 61
33026023 2020
Corrosion and Heat Treatment Study of Electroless NiP-Ti Nanocomposite Coatings Deposited on HSLA Steel. 61
32992628 2020
Response surface methodology and artificial neural network for remediation of acid orange 7 using TiO2-P25: optimization and modeling approach. 61
32557068 2020
Anodized anisotropic titanium surfaces for enhanced guidance of gingival fibroblasts. 61
32409032 2020
Bottom-Up Fabrication of Plasmonic Nanoantenna-Based High-throughput Multiplexing Biosensors for Ultrasensitive Detection of microRNAs Directly from Cancer Patients' Plasma. 61
32469524 2020
A novel liquid biopsy-based approach for highly specific cancer diagnostics: mitigating false responses in assaying patient plasma-derived circulating microRNAs through combined SERS and plasmon-enhanced fluorescence analyses. 61
32490854 2020
Development and Piloting Testing of an Experimental Tobacco and Nicotine Product Marketplace. 61
31603515 2020
Rate of Nonsurgical Admissions at a Level 1 Trauma Center: Impact of a Trauma Nurse Practitioner Model. 61
32371734 2020
MEGA♪ Tool: An Analysis of "Risk/Treatment Needs and Progress Protocol" by Kang, Beltrani, Manheim, Spriggs, Nishimura, Sinclair, Stachniuk, Pate, Righthand, Prentky, and Worling (2019). 61
32134697 2020
Nec-1 Attenuates Neurotoxicity Induced by Titanium Dioxide Nanomaterials on Sh-Sy5y Cells Through RIP1. 61
32221753 2020
The effect of silver nanoparticles, zinc oxide nanoparticles, and titanium dioxide nanoparticles on the push-out bond strength of fiber posts. 61
32190195 2020
Drug-loaded titanium dioxide nanoparticle coated with tumor targeting polymer as a sonodynamic chemotherapeutic agent for anti-cancer therapy. 61
31666202 2020
Reversible Tuning of the Plasmoelectric Effect in Noble Metal Nanostructures Through Manipulation of Organic Ligand Energy Levels. 61
31765167 2020
Enhanced Mechanical and Thermal Properties of Stereolithography 3D Printed Structures by the Effects of Incorporated Controllably Annealed Anatase TiO2 Nanoparticles. 61
31906295 2020
Improving nanotherapy delivery and action through image-guided systems pharmacology. 61
31938046 2020
Realization of Opened and Closed Nodal Lines and Four- and Three-fold Degenerate Nodal Points in XPt (X = Sc, Y, La) Intermetallic Compound: A Computational Modeling Study. 61
33251188 2020
The Effects of Silver, Zinc Oxide, and Titanium Dioxide Nanoparticles Used as Dentin Pretreatments on the Microshear Bond Strength of a Conventional Glass Ionomer Cement to Dentin. 61
32753864 2020
Heritable modifiers of the tumor microenvironment influence nanoparticle uptake, distribution and response to photothermal therapy. 61
32373218 2020
Involvement of Bcl-2 Activation and G1 Cell Cycle Arrest in Colon Cancer Cells Induced by Titanium Dioxide Nanoparticles Synthesized by Microwave-Assisted Hybrid Approach. 61
32760701 2020
Photocatalytic degradation of dye by Ag/TiO2 nanoparticles prepared with different sol-gel crystallization in the presence of effluent organic matter. 61
31707612 2019
Plant uptake and leaching potential upon application of amendments in soils spiked with heavy metals (Cd and Pb). 61
31513965 2019
Electrochemical immunosensor based on MoS2 NFs/Au@AgPt YNCs as signal amplification label for sensitive detection of CEA. 61
31422222 2019
Elasticity of Cross-Linked Titania Nanocrystal Assemblies Probed by AFM-Bulge Tests. 61
31470667 2019
Nurse Practitioners' Role in Improving Service for Elderly Trauma Patients. 61
31283744 2019
The Effects of Transdermal Nicotine Patches on the Cardiorespiratory and Lactate Responses During Exercise from Light to Moderate Intensity: Implications for Exercise Prescription during Smoking Cessation. 61
31284668 2019
Multiparameter toxicity screening on a chip: Effects of UV radiation and titanium dioxide nanoparticles on HaCaT cells. 61
31893008 2019
Changes in fluorescent dissolved organic matter and their association with phytoavailable phosphorus in soil amended with TiO2 nanoparticles. 61
30981099 2019
Ultrafast spectroscopic study of plasmon-induced hot electron transfer under NIR excitation in Au triangular nanoprism/g-C3N4 for photocatalytic H2 production. 61
31062007 2019
A sensitive sandwich-type immunosensor for the detection of MCP-1 based on a rGO-TEPA-Thi-Au nanocomposite and novel RuPdPt trimetallic nanoalloy particles. 61
30826652 2019
Effect of Antioxidant and Antimicrobial Coating based on Whey Protein Nanofibrils with TiO₂ Nanotubes on the Quality and Shelf Life of Chilled Meat. 61
30857155 2019
Identification of sperm motility markers in bovine transition protein genes. 61
30370952 2019
Plasmoelectronic-Based Ultrasensitive Assay of Tumor Suppressor microRNAs Directly in Patient Plasma: Design of Highly Specific Early Cancer Diagnostic Technology. 61
30608133 2019

Variations for Tn Polyagglutination Syndrome

ClinVar genetic disease variations for Tn Polyagglutination Syndrome:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.202C>T (p.Arg68Ter) SNV Pathogenic 10791 rs137853598 GRCh37: X:119760820-119760820
GRCh38: X:120626965-120626965
2 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) SNV Pathogenic 10792 rs17261572 GRCh37: X:119760629-119760629
GRCh38: X:120626774-120626774
3 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.454G>A (p.Glu152Lys) SNV Pathogenic 10793 rs137853599 GRCh37: X:119760568-119760568
GRCh38: X:120626713-120626713
4 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.577T>C (p.Ser193Pro) SNV Pathogenic 39573 rs397514537 GRCh37: X:119760445-119760445
GRCh38: X:120626590-120626590
5 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile) SNV Pathogenic 39574 rs587776928 GRCh37: X:119761019-119761019
GRCh38: X:120627164-120627164
6 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.540T>G (p.Tyr180Ter) SNV Pathogenic 873539 GRCh37: X:119760482-119760482
GRCh38: X:120626627-120626627
7 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.178C>T (p.Arg60Cys) SNV Uncertain significance 934542 GRCh37: X:119760844-119760844
GRCh38: X:120626989-120626989
8 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.662A>G (p.Lys221Arg) SNV Uncertain significance 934543 GRCh37: X:119760360-119760360
GRCh38: X:120626505-120626505
9 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.139C>T (p.Pro47Ser) SNV Uncertain significance 648495 rs755636243 GRCh37: X:119760883-119760883
GRCh38: X:120627028-120627028
10 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.940G>C (p.Gly314Arg) SNV Uncertain significance 849367 GRCh37: X:119760082-119760082
GRCh38: X:120626227-120626227
11 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.302G>A (p.Ser101Asn) SNV Benign 791741 rs149340486 GRCh37: X:119760720-119760720
GRCh38: X:120626865-120626865
12 C1GALT1C1 NM_001011551.3(C1GALT1C1):c.428C>T (p.Ala143Val) SNV Benign 460285 rs45557031 GRCh37: X:119760594-119760594
GRCh38: X:120626739-120626739

UniProtKB/Swiss-Prot genetic disease variations for Tn Polyagglutination Syndrome:

# Symbol AA change Variation ID SNP ID
1 C1GALT1C1 p.Glu152Lys VAR_031911 rs137853599
2 C1GALT1C1 p.Ser193Pro VAR_069275 rs397514537

Expression for Tn Polyagglutination Syndrome

Search GEO for disease gene expression data for Tn Polyagglutination Syndrome.

Pathways for Tn Polyagglutination Syndrome

Pathways related to Tn Polyagglutination Syndrome according to KEGG:

# Name Kegg Source Accession
1 Mucin type O-glycan biosynthesis hsa00512

Pathways related to Tn Polyagglutination Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
13.6 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12
Show member pathways
13.35 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12
Show member pathways
13.28 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12
Show member pathways
12.17 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12
Show member pathways
11.97 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12
Show member pathways
11.82 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12
Show member pathways
11.26 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12

GO Terms for Tn Polyagglutination Syndrome

Cellular components related to Tn Polyagglutination Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.76 MUC17 MUC16 MUC15 MUC13 MUC12 MUC1
2 extracellular region GO:0005576 9.73 MUC19 MUC17 MUC16 MUC15 MUC13 MUC1
3 plasma membrane GO:0005886 9.56 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12
4 apical plasma membrane GO:0016324 9.5 MUC17 MUC13 MUC1
5 Golgi lumen GO:0005796 9.17 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12

Biological processes related to Tn Polyagglutination Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 O-glycan processing GO:0016266 9.56 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.23 MUC19 MUC17 MUC16 MUC15 MUC13 MUC12

Sources for Tn Polyagglutination Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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