MCID: PYR013
MIFTS: 56

Pyruvate Kinase Deficiency malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pyruvate Kinase Deficiency

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Aliases & Descriptions for Pyruvate Kinase Deficiency:

Name: Pyruvate Kinase Deficiency 49 11 45 22 23 47
Pk Deficiency 45 23 67
Pyruvate Kinase Deficiency of Red Cells 45 67
Red Cell Pyruvate Kinase Deficiency 67 24
Hereditary Non-Spherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency 67
Hemolytic Anemia Due to Red Cell Pyruvate Kinase Deficiency 67
Anemia, Hemolytic, Congenital Nonspherocytic 65
Pyruvate Kinase-Deficient Hemolytic Anemia 67
 
Pyruvate Kinase Deficiency of Erythrocytes 45
Pyruvate Kinase Deficiency of Erythrocyte 67
Paroxysmal Kinesigenic Choreoathetosis 65
Deficiency of Pyruvate Kinase 65
Hnsha 67
Pkrd 67
Pkd 23

Characteristics:

HPO:

61
pyruvate kinase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 266200
MeSH36 D000746
UMLS65 C0340968, C1868682

Summaries for Pyruvate Kinase Deficiency

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NIH Rare Diseases:45 Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). the signs and symptoms of the disease may vary greatly from person to person. however, they usually include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. in some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis). newborns may present with prolonged jaundice and anemia. older children may be pale (due to anemia) and have intermittent episodes of jaundice. mild cases may escape detection until adulthood. although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. pyruvate kinase deficiency is caused by a mutation in the pklr gene and is inherited in an autosomal recessive fashion. treatment remains supportive rather than curative.   last updated: 1/13/2016

MalaCards based summary: Pyruvate Kinase Deficiency, also known as pk deficiency, is related to congenital nonspherocytic hemolytic anemia and hemolytic anemia due to red cell pyruvate kinase deficiency, and has symptoms including unconjugated hyperbilirubinemia, increased red cell osmotic fragility and chronic hemolytic anemia. An important gene associated with Pyruvate Kinase Deficiency is PKLR (Pyruvate Kinase, Liver And RBC), and among its related pathways are Pyruvate metabolism and Abacavir Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include spleen, heart and prostate, and related mouse phenotypes are hematopoietic system and mortality/aging.

UniProtKB/Swiss-Prot:67 Pyruvate kinase deficiency of red cells: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia.

Genetics Home Reference:23 Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia.

OMIM:49 Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK... (266200) more...

Wikipedia:68 Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited... more...

Related Diseases for Pyruvate Kinase Deficiency

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Diseases related to Pyruvate Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 244)
idRelated DiseaseScoreTop Affiliating Genes
1congenital nonspherocytic hemolytic anemia31.9EPO, G6PD, HBA2
2hemolytic anemia due to red cell pyruvate kinase deficiency12.6
3pyruvate kinase deficiency, liver type12.5
4pyruvate kinase deficiency, muscle type12.5
5polycystic kidney disease11.8
6polycystic kidney and hepatic disease11.7
7episodic kinesigenic dyskinesia 111.5
8convulsions, familial infantile, with paroxysmal choreoathetosis11.4
9polycystic kidney disease 211.3
10polycystic kidney disease, adult type i11.3
11cystic kidney disease10.8
12hemolytic anemia due to hexokinase deficiency10.5
13polycystic liver disease10.4
14pulpitis10.4
15glucosephosphate dehydrogenase deficiency10.4G6PD, PKLR
16cerebritis10.4
17corneal disease10.3G6PD, PKM
18prostatitis10.3
19pertussis10.3NTRK1, PKLR
20wernicke encephalopathy10.3G6PD, PKLR
21glomerulocystic kidney disease with hyperuricemia and isosthenuria10.3
22polycystic kidney disease, autosomal dominant10.3
23prostate cancer10.3
24lymphoma10.3
25lung cancer10.2
26leukemia10.2
27neuronitis10.2
28islet cell tumor10.2G6PD, MTHFR
29rheumatoid arthritis10.1
30colorectal cancer10.1
31hepatocellular carcinoma10.1
32obesity10.1
33pancreatic cancer10.1
34arthritis10.1
35gastric cancer10.1
36hepatitis10.1
37atrial fibrillation10.1
38gastric lymphoma10.1
39sarcoma10.1
40urethritis10.1
41hypophosphatasia10.1
42melanoma10.1
43ovarian cancer10.1
44agnosia10.1
45uremia10.1
46pancreatitis10.1
47pneumonia10.1
48peritonitis10.1
49pemphigus10.1
50glioblastoma10.1

Graphical network of the top 20 diseases related to Pyruvate Kinase Deficiency:



Diseases related to pyruvate kinase deficiency

Symptoms for Pyruvate Kinase Deficiency

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Symptoms by clinical synopsis from OMIM:

266200

Clinical features from OMIM:

266200

HPO human phenotypes related to Pyruvate Kinase Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 unconjugated hyperbilirubinemia HP:0008282
2 increased red cell osmotic fragility HP:0005502
3 chronic hemolytic anemia HP:0004870
4 reticulocytosis HP:0001923
5 nonimmune hydrops fetalis HP:0001790
6 splenomegaly HP:0001744
7 abnormality of the amniotic fluid HP:0001560
8 intrauterine growth retardation HP:0001511
9 cholecystitis HP:0001082
10 cholelithiasis HP:0001081
11 jaundice HP:0000952

Drugs & Therapeutics for Pyruvate Kinase Deficiency

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Drugs for Pyruvate Kinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1pyruvateNutraceuticalPhase 2, Phase 130

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of AG-348 in Adult Patients With Pyruvate Kinase DeficiencyRecruitingNCT02476916Phase 2
2A Safety and Tolerability Study of AG-519 in Healthy SubjectsRecruitingNCT02630927Phase 1
3Pyruvate Kinase Deficiency Natural History StudyRecruitingNCT02053480

Search NIH Clinical Center for Pyruvate Kinase Deficiency

Genetic Tests for Pyruvate Kinase Deficiency

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Genetic tests related to Pyruvate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Kinase Deficiency22 PKLR

Anatomical Context for Pyruvate Kinase Deficiency

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MalaCards organs/tissues related to Pyruvate Kinase Deficiency:

33
Spleen, Heart, Prostate, Kidney, Endothelial, T cells, Breast

Animal Models for Pyruvate Kinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Pyruvate Kinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.1EPO, G6PD, GDF15, HFE, NTRK1, PKLR
2MP:00107685.7EPO, G6PD, GDF15, HBA2, HFE, MTHFR

Publications for Pyruvate Kinase Deficiency

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Articles related to Pyruvate Kinase Deficiency:

(show top 50)    (show all 270)
idTitleAuthorsYear
1
5-Fluorouracil toxicity and dihydropyrimidine dehydrogenase enzyme: implications for practice. (25253112)
2014
2
Testicular microlithiasis an ultrasound dilemma: survey of opinions regarding significance and management amongst UK ultrasound practitioners. (24311562)
2014
3
Role of bowel ultrasound in the management of postoperative Crohn's disease. (25400989)
2014
4
Anomalous inferior vena cava associated with horseshoe kidney on multidetector computed tomography. (23849103)
2013
5
Achieving recommended low density lipoprotein cholesterol goals and the factors associated with target achievement of hypercholesterolemia patients with rosuvastatin in primary care. (23647398)
2013
6
Centrosomal localization of RhoGDII^ and its relevance to mitotic processes in cancer cells. (23232495)
2013
7
Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus. (22792070)
2012
8
Intestinal rehabilitation and bowel reconstructive surgery: improved outcomes in children with short bowel syndrome? (22197947)
2012
9
SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome. (22341965)
2012
10
Idiopathic pulmonary fibrosis: clinically meaningful primary endpoints in phase 3 clinical trials. (22505745)
2012
11
Huge abdominal mass secondary to a transverse vaginal septum and cervical dysgenesis. (22359424)
2011
12
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. (19714537)
2010
13
Is there a role for antioxidants in prevention of pulmonary hypoplasia in nitrofen-induced rat model of congenital diaphragmatic hernia? (20127338)
2010
14
Is inflammation prior to renal transplantation predictive for cardiovascular and renal outcomes? (20092820)
2010
15
Hypertrophic osteoarthropathy masquerading as lower extremity cellulitis and response to bisphosphonates. (19179906)
2009
16
Differential associations between soluble cellular adhesion molecules and atherosclerosis in the Dallas Heart Study: a distinct role for soluble endothelial cell-selective adhesion molecule. (19759376)
2009
17
Association between catechol-O-methyltrasferase Val108/158Met genotype and prefrontal hemodynamic response in schizophrenia. (19424500)
2009
18
A case of spermatic cord teratoma in low-stage testicular cancer managed by surveillance. (18268549)
2008
19
Widespread tinea corporis caused by Trichophyton rubrum with non-typical cultural characteristics--diagnosis via PCR. (17681051)
2007
20
The effects of gonadotropin releasing hormone analogue therapy on girls with gonadotropin-dependent precocious puberty. (17964961)
2007
21
Idiopathic hypertrophic pachymeningitis mimicking lymphoplasmacyte-rich meningioma. (17548991)
2007
22
The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. (16458430)
2007
23
Increased expression of 5-lipoxygenase is common in clear cell renal cell carcinoma. (17616938)
2007
24
Pancreatoduodenal surgery in patients with multiple endocrine neoplasia type 1: Operative outcomes, long-term function, and quality of life. (18063064)
2007
25
Reduction in podocyte density as a pathologic feature in early diabetic nephropathy in rodents: prevention by lipoic acid treatment. (16539708)
2006
26
Left ventricular mass and +276 G/G single nucleotide polymorphism of the adiponectin gene in uncomplicated obesity. (16648605)
2006
27
Characterization of the structures involved in localization of the SUN proteins to the nuclear envelope and the centrosome. (17132086)
2006
28
Structure, function, expression, genomic organization, and single nucleotide polymorphisms of human ABCB1 (MDR1), ABCC (MRP), and ABCG2 (BCRP) efflux transporters. (16815813)
2006
29
Immunological study of complex formation between soluble transferrin receptor and transferrin. (16044455)
2005
30
Epidural analgesia in a parturient with classic type Ehlers-Danlos syndrome. (15627549)
2005
31
A case study in Hansen's disease acquired after heart transplant. (14974527)
2004
32
Identification and biochemical characterization of a Werner's syndrome protein complex with Ku70/80 and poly(ADP-ribose) polymerase-1. (14734561)
2004
33
Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q. (15057984)
2004
34
Irinotecan, cisplatin/carboplatin, and COX-2 inhibition in small-cell lung cancer. (12886870)
2003
35
Impact of interferon-alpha therapy on the serum level of alpha-fetoprotein in patients with chronic viral hepatitis. (14737946)
2003
36
Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor. (11889161)
2002
37
Exercise-induced anaphylaxis. (10858997)
2000
38
Identification of HLA-A2-restricted T-cell epitopes derived from the MUC1 tumor antigen for broadly applicable vaccine therapies. (10361129)
1999
39
Body weight and leptin plasma levels during treatment with antipsychotic drugs. (9989571)
1999
40
Prepubertal hidradenitis suppurativa: two case reports and review of the literature. (10469415)
1999
41
Analytical performance and clinical application of a new rapid bedside assay for the detection of serum cardiac troponin I. (9732978)
1998
42
Modification of the rate of aging of diisopropylfluorophosphate-inhibited neuropathy target esterase of hen brain. (9635412)
1998
43
Functional calcium-sensing receptor expression in ovarian surface epithelial cells. (9500491)
1998
44
Elucidation of the sequence and the genomic organization of the human dentin matrix acidic phosphoprotein 1 (DMP1) gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II. (9177774)
1997
45
Technegas ventilation SPECT for evaluating silicosis in comparison with computed tomography. (8800444)
1996
46
Precision substrate targeting of protein kinases v-Abl and c-Src. (7592951)
1995
47
Transferrin reduces the production of soluble transferrin receptor. (7777590)
1995
48
Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. (7942863)
1994
49
Effects of octreotide on lipid metabolism in acromegaly. (1526629)
1992
50
Characterization and clonal distribution of four alleles of the speA gene encoding pyrogenic exotoxin A (scarlet fever toxin) in Streptococcus pyogenes. (1940804)
1991

Variations for Pyruvate Kinase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Kinase Deficiency:

67 (show all 100)
id Symbol AA change Variation ID SNP ID
1PKLRp.Met107ThrVAR_004028
2PKLRp.Val134AspVAR_004030
3PKLRp.Leu155ProVAR_004031
4PKLRp.Glu172GlnVAR_004032
5PKLRp.Arg163CysVAR_004033
6PKLRp.Gly275ArgVAR_004035
7PKLRp.Asp281AsnVAR_004036
8PKLRp.Phe287ValVAR_004037
9PKLRp.Ile314ThrVAR_004038
10PKLRp.Asp331GluVAR_004039
11PKLRp.Gly332SerVAR_004040
12PKLRp.Ala336SerVAR_004041
13PKLRp.Arg337ProVAR_004042
14PKLRp.Arg337GlnVAR_004043
15PKLRp.Asp339HisVAR_004044
16PKLRp.Gly341AlaVAR_004045
17PKLRp.Ile357ThrVAR_004047
18PKLRp.Arg359CysVAR_004048
19PKLRp.Arg359HisVAR_004049
20PKLRp.Asn361AspVAR_004050
21PKLRp.Val368PheVAR_004051
22PKLRp.Thr384MetVAR_004052
23PKLRp.Ala392ThrVAR_004053
24PKLRp.Asn393LysVAR_004054
25PKLRp.Asn393SerVAR_004055
26PKLRp.Thr408IleVAR_004057
27PKLRp.Gln421LysVAR_004058
28PKLRp.Arg426GlnVAR_004059
29PKLRp.Arg426TrpVAR_004060
30PKLRp.Ala431ThrVAR_004061
31PKLRp.Gly458AspVAR_004062
32PKLRp.Ala459ValVAR_004063
33PKLRp.Val460MetVAR_004064
34PKLRp.Ala468ValVAR_004065
35PKLRp.Arg486TrpVAR_004066rs116100695
36PKLRp.Arg490TrpVAR_004067rs200133000
37PKLRp.Ala495ValVAR_004068
38PKLRp.Arg498CysVAR_004069
39PKLRp.Arg498HisVAR_004070
40PKLRp.Arg510GlnVAR_004071rs113403872
41PKLRp.Arg532GlnVAR_004072
42PKLRp.Arg532TrpVAR_004073
43PKLRp.Val552MetVAR_004074
44PKLRp.Arg559GlyVAR_004075
45PKLRp.Asn566LysVAR_004076
46PKLRp.Ser80ProVAR_011436
47PKLRp.Arg86ProVAR_011437
48PKLRp.Ile90AsnVAR_011438
49PKLRp.Gly95ArgVAR_011439
50PKLRp.Gly111ArgVAR_011440
51PKLRp.Ala115ProVAR_011441
52PKLRp.Ser120PheVAR_011442
53PKLRp.Ser130TyrVAR_011443
54PKLRp.Gly159ValVAR_011444
55PKLRp.Gly222AlaVAR_011445
56PKLRp.Asp293AsnVAR_011446
57PKLRp.Gly263ArgVAR_011447
58PKLRp.Gly263TrpVAR_011448
59PKLRp.Val288LeuVAR_011449
60PKLRp.Ala295ValVAR_011450
61PKLRp.Ile310AsnVAR_011451
62PKLRp.Glu315LysVAR_011452
63PKLRp.Asp331AsnVAR_011453
64PKLRp.Gly341AspVAR_011454
65PKLRp.Ile342PheVAR_011455
66PKLRp.Lys348AsnVAR_011456
67PKLRp.Gly364AspVAR_011458
68PKLRp.Ser376IleVAR_011459
69PKLRp.Glu387GlyVAR_011460
70PKLRp.Asp390AsnVAR_011461
71PKLRp.Ala394AspVAR_011462
72PKLRp.Ala394ValVAR_011463
73PKLRp.Thr408AlaVAR_011464
74PKLRp.Glu427AlaVAR_011465
75PKLRp.Glu427AspVAR_011466
76PKLRp.Thr477AlaVAR_011467
77PKLRp.Ser485PheVAR_011468
78PKLRp.Arg488GlnVAR_011469
79PKLRp.Ala495ThrVAR_011470
80PKLRp.Arg504LeuVAR_011471rs185753709
81PKLRp.Gly511ArgVAR_011472
82PKLRp.Arg531CysVAR_011473
83PKLRp.Ile153ThrVAR_011474
84PKLRp.Ile219ThrVAR_011475
85PKLRp.Val335MetVAR_011476
86PKLRp.Ala352AspVAR_011477
87PKLRp.Arg385TrpVAR_011478
88PKLRp.Ala468GlyVAR_011479
89PKLRp.Arg479HisVAR_011480
90PKLRp.Gly557AlaVAR_011481
91PKLRp.Arg569GlnVAR_011482rs61755431
92PKLRp.Arg40TrpVAR_058467
93PKLRp.Leu73ProVAR_058469
94PKLRp.Ala154ThrVAR_058470
95PKLRp.Arg163LeuVAR_058471
96PKLRp.Gly165ValVAR_058472
97PKLRp.Leu272ValVAR_058473
98PKLRp.Val320LeuVAR_058474
99PKLRp.Gly358GluVAR_058475
100PKLRp.Leu374ProVAR_058476

Clinvar genetic disease variations for Pyruvate Kinase Deficiency:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PKLRPKLR, 1-BP DELdeletionPathogenic
2PKLRNM_000298.5(PKLR): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenicrs118204083GRCh37Chr 1, 155265248: 155265248
3PKLRNM_000298.5(PKLR): c.1151C> T (p.Thr384Met)single nucleotide variantPathogenicrs74315362GRCh37Chr 1, 155263347: 155263347
4PKLRNM_000298.5(PKLR): c.1261C> A (p.Gln421Lys)single nucleotide variantPathogenicrs118204084GRCh37Chr 1, 155263237: 155263237
5PKLRNM_000298.5(PKLR): c.1436G> A (p.Arg479His)single nucleotide variantPathogenicrs118204085GRCh37Chr 1, 155262968: 155262968
6PKLRNM_000298.5(PKLR): c.1529G> A (p.Arg510Gln)single nucleotide variantPathogenicrs113403872GRCh37Chr 1, 155261636: 155261636
7PKLRNM_000298.5(PKLR): c.1456C> T (p.Arg486Trp)single nucleotide variantLikely pathogenic, Pathogenicrs116100695GRCh37Chr 1, 155261709: 155261709
8PKLRNM_000298.5(PKLR): c.389C> A (p.Ser130Tyr)single nucleotide variantPathogenicrs118204089GRCh37Chr 1, 155265346: 155265346
9PKLRPKLR, -83G-Csingle nucleotide variantPathogenic
10PKLRPKLR, 1318G-Tsingle nucleotide variantPathogenic
11PKLRPKLR, 1269G-Asingle nucleotide variantPathogenic
12PKLRPKLR, 1-BP DEL, 823GdeletionPathogenic

Expression for genes affiliated with Pyruvate Kinase Deficiency

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Search GEO for disease gene expression data for Pyruvate Kinase Deficiency.

Pathways for genes affiliated with Pyruvate Kinase Deficiency

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GO Terms for genes affiliated with Pyruvate Kinase Deficiency

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Biological processes related to Pyruvate Kinase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1pyruvate biosynthetic processGO:004286610.5PKLR, PKM
2ATP biosynthetic processGO:000675410.4PKLR, PKM
3erythrocyte maturationGO:004324910.2EPO, G6PD
4positive regulation of Ras protein signal transductionGO:004657910.0EPO, NTRK1
5acute-phase responseGO:00069539.9EPO, HFE
6negative regulation of neuron deathGO:19012159.9EPO, NTRK1
7positive regulation of neuron projection developmentGO:00109769.9EPO, NTRK1
8response to axon injuryGO:00486789.9EPO, NTRK1
9response to electrical stimulusGO:00516029.8EPO, NTRK1
10response to nutrientGO:00075849.6EPO, PKLR, PKM
11response to hypoxiaGO:00016668.7EPO, MTHFR, PKLR, PKM
12small molecule metabolic processGO:00442818.2G6PD, HBA2, MTHFR, PKLR, PKM

Molecular functions related to Pyruvate Kinase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.6G6PD, MTHFR

Sources for Pyruvate Kinase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet