MCID: TYR004
MIFTS: 48

Tyrosinemia

Categories: Metabolic diseases, Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Endocrine diseases, Gastrointestinal diseases, Neuronal diseases, Liver diseases, Nephrological diseases

Aliases & Classifications for Tyrosinemia

MalaCards integrated aliases for Tyrosinemia:

Name: Tyrosinemia 12 76 25 37 15
Hypertyrosinemia 25 29 6 73
Tyrosinemias 55 44 73
Hereditary Hypertyrosinemia 73
Hereditary Tyrosinemia 25
Hypertyrosinaemia 25
Tyrosinaemia 25

Classifications:



External Ids:

Disease Ontology 12 DOID:9275
ICD10 33 E70.21
MeSH 44 D020176
NCIt 50 C98640
SNOMED-CT 68 190694001
KEGG 37 H00165

Summaries for Tyrosinemia

Genetics Home Reference : 25 Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.

MalaCards based summary : Tyrosinemia, also known as hypertyrosinemia, is related to tyrosinemia, type ii and tyrosinemia, type iii. An important gene associated with Tyrosinemia is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways/superpathways are Tyrosine metabolism and Phenylalanine metabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes, and related phenotypes are homeostasis/metabolism and renal/urinary system

Disease Ontology : 12 An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.

Wikipedia : 76 Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot... more...

Related Diseases for Tyrosinemia

Diseases in the Tyrosinemia family:

Tyrosinemia, Type Ii Tyrosinemia, Type I
Tyrosinemia, Type Iii

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 tyrosinemia, type ii 34.5 FAH TAT
2 tyrosinemia, type iii 34.0 FAH HPD TAT
3 tyrosinemia, type i 31.0 AFP ALAD CYCS FAH GSTZ1 HPD
4 alkaptonuria 30.6 FAH HPD
5 hyperphenylalaninemia 28.6 PAH PTS
6 transient tyrosinemia of the newborn 12.1
7 tyrosinosis 11.4
8 hawkinsinuria 11.3
9 tyrosine-oxidase temporary deficiency 11.0
10 folate malabsorption, hereditary 10.8
11 bile acid synthesis defect, congenital, 2 10.8
12 5-oxoprolinase deficiency 10.8
13 glycine n-methyltransferase deficiency 10.8
14 bile acid synthesis defect, congenital, 1 10.8
15 maleylacetoacetate isomerase deficiency 10.8
16 childhood hepatocellular carcinoma 10.8
17 type i 10.8
18 hanhart syndrome 10.3
19 hepatitis 10.2
20 hepatocellular carcinoma 10.2
21 liver disease 10.0
22 pancreatitis 10.0
23 infantile liver failure syndrome 1 9.9
24 hypermethioninemia 9.9
25 hemifacial microsomia with radial defects 9.8
26 hemifacial microsomia 9.8
27 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.8
28 porphyria 9.8
29 keratosis 9.8
30 hyperphenylalaninemia due to dehydratase deficiency 9.8
31 classic phenylketonuria 9.8 PAH PTS
32 mild hyperphenylalaninemia 9.8 PAH PTS
33 angelman syndrome 9.7
34 hereditary leiomyomatosis and renal cell cancer 9.7
35 porphyria, acute intermittent 9.7
36 acute liver failure 9.7
37 keratopathy 9.7
38 liver cirrhosis 9.7
39 lennox-gastaut syndrome 9.7
40 metabolic acidosis 9.7
41 rickets 9.7
42 fanconi syndrome 9.7
43 hypertrophic cardiomyopathy 9.7
44 hemosiderosis 9.7
45 cholestasis 9.7
46 status epilepticus 9.7
47 corneal dystrophy 9.7
48 acute pancreatitis 9.7
49 cerebritis 9.7
50 lactic acidosis 9.7

Graphical network of the top 20 diseases related to Tyrosinemia:



Diseases related to Tyrosinemia

Symptoms & Phenotypes for Tyrosinemia

MGI Mouse Phenotypes related to Tyrosinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 AFP BTD FAH GSTZ1 HPD PAH
2 renal/urinary system MP:0005367 9.02 BTD FAH GSTZ1 HPD PAH

Drugs & Therapeutics for Tyrosinemia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 104206-65-7 115355

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Unknown status NCT01390077 Phase 2, Phase 3 Nitisinone
2 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Completed NCT02323529 Phase 3 Nitisinone
3 Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I Completed NCT00004333 Phase 2 NTBC
4 Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1) Completed NCT02750345 Phase 1 Nitisinone;Nitisinone Baked Tablet;Orfadin
5 Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1) Completed NCT02750332 Phase 1 Nitisinone
6 Taste and Palatability of Orfadin Suspension Completed NCT01734889 Phase 1 Nitisinone
7 Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin Completed NCT02750709 Phase 1 Nitisinone;Nitisinone 10 mg Tablet High Compritol;Orfadin
8 Study of NTBC for Tyrosinemia I Completed NCT00004443 Not Applicable NTBC
9 Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study) Recruiting NCT03446586
10 Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 Recruiting NCT03284658
11 Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care Recruiting NCT02320084 Nitisinone

Search NIH Clinical Center for Tyrosinemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: tyrosinemias

Genetic Tests for Tyrosinemia

Genetic tests related to Tyrosinemia:

# Genetic test Affiliating Genes
1 Hypertyrosinemia 29

Anatomical Context for Tyrosinemia

MalaCards organs/tissues related to Tyrosinemia:

41
Liver, Kidney, Testes, Brain, Neutrophil, Colon, Skin

Publications for Tyrosinemia

Articles related to Tyrosinemia:

(show top 50) (show all 444)
# Title Authors Year
1
Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2. ( 29480263 )
2018
2
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III. ( 29741470 )
2018
3
Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1. ( 29195145 )
2018
4
Cas9-nickase-mediated genome editing corrects hereditary tyrosinemia in rats. ( 29507093 )
2018
5
Curative Ex Vivo Hepatocyte-Directed Gene Editing in a Mouse Model of Hereditary Tyrosinemia Type 1. ( 29764210 )
2018
6
A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation. ( 29456978 )
2018
7
Comment on Pancreatitis in Type 1 Tyrosinemia. ( 28783026 )
2017
8
Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1. ( 28755183 )
2017
9
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review. ( 28893311 )
2017
10
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec. ( 28755185 )
2017
11
Richner-Hanhart syndrome (tyrosinemia type II). ( 29360903 )
2017
12
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. ( 28255985 )
2017
13
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day. ( 29170874 )
2017
14
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1). ( 28769581 )
2017
15
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. ( 28771246 )
2017
16
Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1. ( 27855279 )
2017
17
Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex. ( 28712060 )
2017
18
Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean. ( 28755180 )
2017
19
Caregiver Quality of Life with Tyrosinemia Type 1. ( 29110168 )
2017
20
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1. ( 28949985 )
2017
21
Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1. ( 28755181 )
2017
22
Tyrosinemia Type I in Japan: A Report of Five Cases. ( 28755191 )
2017
23
Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia. ( 29201126 )
2017
24
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients. ( 28755189 )
2017
25
Newborn Screening for Hereditary Tyrosinemia Type I in QuAcbec: Update. ( 28755192 )
2017
26
Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine. ( 28755184 )
2017
27
Fumarylacetoacetate hydrolase knockout rabbit model for hereditary tyrosinemia type 1. ( 28053091 )
2017
28
Liver Cancer in Tyrosinemia Type 1. ( 28755188 )
2017
29
Hereditary Tyrosinemia Type 1 in Turkey. ( 28755194 )
2017
30
Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint. ( 28755198 )
2017
31
Dietary Considerations in Tyrosinemia Type I. ( 28755197 )
2017
32
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy. ( 28274233 )
2017
33
Hepatorenal Tyrosinemia in Mexico: A Call to Action. ( 28755193 )
2017
34
Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1. ( 28643275 )
2017
35
Gene Therapy in Tyrosinemia: Potential and Pitfalls. ( 28755200 )
2017
36
Tyrosinemia Presenting With Multiple Hepatic Lesions and Splenomegaly. ( 27898518 )
2016
37
Identification of circulating microRNAs during the liver neoplastic process in a murine model of hereditary tyrosinemia type 1. ( 27282650 )
2016
38
Iron overload in hereditary tyrosinemia type 1 induces liver injury through the Sp1/Tfr2/hepcidin axis. ( 27013087 )
2016
39
An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1. ( 27052529 )
2016
40
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing. ( 27093575 )
2016
41
Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. ( 27510266 )
2016
42
Tyrosinemia type I: Case series with response to treatment to NTBC. ( 27109516 )
2016
43
A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report. ( 27487552 )
2016
44
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation. ( 27285949 )
2016
45
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. ( 27397503 )
2016
46
The outcome of seven patients with hereditary tyrosinemia type 1. ( 27682708 )
2016
47
In brief: Nitisinone (Orfadin) for hereditary tyrosinemia. ( 27701365 )
2016
48
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I. ( 27308087 )
2016
49
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. ( 27464750 )
2016
50
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone. ( 27188289 )
2016

Variations for Tyrosinemia

ClinVar genetic disease variations for Tyrosinemia:

6
(show top 50) (show all 181)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAH NM_000137.2(FAH): c.1062+5G> A single nucleotide variant Pathogenic rs80338901 GRCh37 Chromosome 15, 80472572: 80472572
2 FAH NM_000137.2(FAH): c.1062+5G> A single nucleotide variant Pathogenic rs80338901 GRCh38 Chromosome 15, 80180230: 80180230
3 FAH NM_000137.2(FAH): c.554-1G> T single nucleotide variant Pathogenic rs80338895 GRCh37 Chromosome 15, 80460605: 80460605
4 FAH NM_000137.2(FAH): c.554-1G> T single nucleotide variant Pathogenic rs80338895 GRCh38 Chromosome 15, 80168263: 80168263
5 FAH NM_000137.2(FAH): c.1056C> T (p.Ser352=) single nucleotide variant Benign/Likely benign rs1801374 GRCh37 Chromosome 15, 80472561: 80472561
6 FAH NM_000137.2(FAH): c.1056C> T (p.Ser352=) single nucleotide variant Benign/Likely benign rs1801374 GRCh38 Chromosome 15, 80180219: 80180219
7 FAH NM_000137.2(FAH): c.1209C> T (p.Ile403=) single nucleotide variant Benign/Likely benign rs111345782 GRCh37 Chromosome 15, 80478500: 80478500
8 FAH NM_000137.2(FAH): c.1209C> T (p.Ile403=) single nucleotide variant Benign/Likely benign rs111345782 GRCh38 Chromosome 15, 80186158: 80186158
9 FAH NM_000137.2(FAH): c.243G> A (p.Ala81=) single nucleotide variant Conflicting interpretations of pathogenicity rs36122289 GRCh37 Chromosome 15, 80452148: 80452148
10 FAH NM_000137.2(FAH): c.243G> A (p.Ala81=) single nucleotide variant Conflicting interpretations of pathogenicity rs36122289 GRCh38 Chromosome 15, 80159806: 80159806
11 HPD NM_002150.2(HPD): c.15T> G (p.Ser5Arg) single nucleotide variant Benign rs35849100 GRCh37 Chromosome 12, 122296608: 122296608
12 HPD NM_002150.2(HPD): c.15T> G (p.Ser5Arg) single nucleotide variant Benign rs35849100 GRCh38 Chromosome 12, 121858702: 121858702
13 FAH NM_000137.2(FAH): c.1180+4A> G single nucleotide variant Benign/Likely benign rs60585303 GRCh37 Chromosome 15, 80473505: 80473505
14 FAH NM_000137.2(FAH): c.1180+4A> G single nucleotide variant Benign/Likely benign rs60585303 GRCh38 Chromosome 15, 80181163: 80181163
15 TAT NM_000353.2(TAT): c.309G> A (p.Ser103=) single nucleotide variant Likely benign rs78302875 GRCh38 Chromosome 16, 71575953: 71575953
16 TAT NM_000353.2(TAT): c.309G> A (p.Ser103=) single nucleotide variant Likely benign rs78302875 GRCh37 Chromosome 16, 71609856: 71609856
17 46;XY;t(16;20)(q23.1;p11.22) Translocation Uncertain significance
18 FAH NM_000137.2(FAH): c.921A> G (p.Gly307=) single nucleotide variant Benign/Likely benign rs76338717 GRCh37 Chromosome 15, 80469886: 80469886
19 FAH NM_000137.2(FAH): c.921A> G (p.Gly307=) single nucleotide variant Benign/Likely benign rs76338717 GRCh38 Chromosome 15, 80177544: 80177544
20 HPD NM_002150.2(HPD): c.954+14A> C single nucleotide variant Likely benign rs200866898 GRCh37 Chromosome 12, 122281602: 122281602
21 HPD NM_002150.2(HPD): c.954+14A> C single nucleotide variant Likely benign rs200866898 GRCh38 Chromosome 12, 121843696: 121843696
22 HPD NM_002150.2(HPD): c.414G> A (p.Thr138=) single nucleotide variant Benign rs140788110 GRCh37 Chromosome 12, 122292609: 122292609
23 HPD NM_002150.2(HPD): c.414G> A (p.Thr138=) single nucleotide variant Benign rs140788110 GRCh38 Chromosome 12, 121854703: 121854703
24 HPD NM_002150.2(HPD): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs774495352 GRCh38 Chromosome 12, 121858712: 121858712
25 HPD NM_002150.2(HPD): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs774495352 GRCh37 Chromosome 12, 122296618: 122296618
26 FAH NM_000137.2(FAH): c.-105G> C single nucleotide variant Likely benign rs112474268 GRCh38 Chromosome 15, 80152950: 80152950
27 FAH NM_000137.2(FAH): c.-105G> C single nucleotide variant Likely benign rs112474268 GRCh37 Chromosome 15, 80445292: 80445292
28 FAH NM_000137.2(FAH): c.-43G> T single nucleotide variant Conflicting interpretations of pathogenicity rs200704926 GRCh38 Chromosome 15, 80153012: 80153012
29 FAH NM_000137.2(FAH): c.-43G> T single nucleotide variant Conflicting interpretations of pathogenicity rs200704926 GRCh37 Chromosome 15, 80445354: 80445354
30 FAH NM_000137.2(FAH): c.291A> C (p.Arg97Ser) single nucleotide variant Uncertain significance rs754226189 GRCh38 Chromosome 15, 80159854: 80159854
31 FAH NM_000137.2(FAH): c.291A> C (p.Arg97Ser) single nucleotide variant Uncertain significance rs754226189 GRCh37 Chromosome 15, 80452196: 80452196
32 FAH NM_000137.2(FAH): c.567A> G (p.Val189=) single nucleotide variant Uncertain significance rs750785945 GRCh38 Chromosome 15, 80168277: 80168277
33 FAH NM_000137.2(FAH): c.567A> G (p.Val189=) single nucleotide variant Uncertain significance rs750785945 GRCh37 Chromosome 15, 80460619: 80460619
34 FAH NM_000137.2(FAH): c.747A> G (p.Pro249=) single nucleotide variant Uncertain significance rs138757552 GRCh38 Chromosome 15, 80173054: 80173054
35 FAH NM_000137.2(FAH): c.747A> G (p.Pro249=) single nucleotide variant Uncertain significance rs138757552 GRCh37 Chromosome 15, 80465396: 80465396
36 FAH NM_000137.2(FAH): c.1152G> T (p.Leu384=) single nucleotide variant Uncertain significance rs886051497 GRCh38 Chromosome 15, 80181131: 80181131
37 FAH NM_000137.2(FAH): c.1152G> T (p.Leu384=) single nucleotide variant Uncertain significance rs886051497 GRCh37 Chromosome 15, 80473473: 80473473
38 FAH NM_000137.2(FAH): c.*310T> A single nucleotide variant Likely benign rs75212096 GRCh37 Chromosome 15, 80478861: 80478861
39 FAH NM_000137.2(FAH): c.*310T> A single nucleotide variant Likely benign rs75212096 GRCh38 Chromosome 15, 80186519: 80186519
40 HPD NM_002150.2(HPD): c.*191C> T single nucleotide variant Uncertain significance rs886049036 GRCh37 Chromosome 12, 122277443: 122277443
41 HPD NM_002150.2(HPD): c.*191C> T single nucleotide variant Uncertain significance rs886049036 GRCh38 Chromosome 12, 121839537: 121839537
42 HPD NM_002150.2(HPD): c.1018G> T (p.Val340Leu) single nucleotide variant Benign/Likely benign rs36023382 GRCh37 Chromosome 12, 122277891: 122277891
43 HPD NM_002150.2(HPD): c.1018G> T (p.Val340Leu) single nucleotide variant Benign/Likely benign rs36023382 GRCh38 Chromosome 12, 121839985: 121839985
44 HPD NM_002150.2(HPD): c.914C> T (p.Thr305Met) single nucleotide variant Likely benign rs200010805 GRCh37 Chromosome 12, 122281656: 122281656
45 HPD NM_002150.2(HPD): c.914C> T (p.Thr305Met) single nucleotide variant Likely benign rs200010805 GRCh38 Chromosome 12, 121843750: 121843750
46 HPD NM_002150.2(HPD): c.895C> T (p.Leu299=) single nucleotide variant Likely benign rs144544907 GRCh37 Chromosome 12, 122281675: 122281675
47 HPD NM_002150.2(HPD): c.895C> T (p.Leu299=) single nucleotide variant Likely benign rs144544907 GRCh38 Chromosome 12, 121843769: 121843769
48 HPD NM_002150.2(HPD): c.765T> C (p.Tyr255=) single nucleotide variant Uncertain significance rs767720774 GRCh37 Chromosome 12, 122284834: 122284834
49 HPD NM_002150.2(HPD): c.765T> C (p.Tyr255=) single nucleotide variant Uncertain significance rs767720774 GRCh38 Chromosome 12, 121846928: 121846928
50 HPD NM_002150.2(HPD): c.294C> T (p.Phe98=) single nucleotide variant Likely benign rs117079110 GRCh38 Chromosome 12, 121856354: 121856354

Expression for Tyrosinemia

Search GEO for disease gene expression data for Tyrosinemia.

Pathways for Tyrosinemia

Pathways related to Tyrosinemia according to KEGG:

37
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Phenylalanine metabolism hsa00360

GO Terms for Tyrosinemia

Cellular components related to Tyrosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.23 ALAD CYCS FAH GSTZ1 HPD PAH

Biological processes related to Tyrosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.62 ALAD FAH GSTZ1 PAH
2 tyrosine catabolic process GO:0006572 9.46 FAH GSTZ1 HPD TAT
3 response to glucocorticoid GO:0051384 9.4 ALAD TAT
4 cellular amino acid metabolic process GO:0006520 9.37 PTS TAT
5 L-phenylalanine catabolic process GO:0006559 9.35 FAH GSTZ1 HPD PAH TAT
6 response to mercury ion GO:0046689 9.26 ALAD TAT
7 aromatic amino acid family metabolic process GO:0009072 9.02 FAH GSTZ1 HPD PAH TAT

Molecular functions related to Tyrosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.17 AFP ALAD CYCS FAH HPD PAH

Sources for Tyrosinemia

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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