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encyclopedia of Rare Disease Annotation for Precision Medicine

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	tyrosinemia

Disease ID	612
Disease	tyrosinemia
Definition	group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency.
Synonym	hereditary tyrosinemia hereditary tyrosinemias hypertyrosinemia tyrosinaemia tyrosinemia (disorder) tyrosinemia, hereditary tyrosinemias tyrosinemias [disease/finding] tyrosinemias, hereditary
DOID	DOID:9275
ICD10	ICD10CM:E70.21
UMLS	C0268483
MeSH	D020176
SNOMED-CT	SNOMEDCT_US_2016_09_01:190694001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0878544 \| cardiomyopathy \| 1 C0023890 \| cirrhosis \| 1 C0023895 \| liver disease \| 1 C0025362 \| mental retardation \| 1 C0022568 \| keratitis \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0035579 \| rickets \| 1 C0023890 \| liver cirrhosis \| 1 C0235270 \| keratopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 6898 \| TAT \| CTD_human;GHR 3242 \| HPD \| CTD_human;GHR 2184 \| FAH \| CTD_human;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 37 \| ACADVL \| 1.593 \| DISEASES 174 \| AFP \| 4.097 \| DISEASES 210 \| ALAD \| 4.908 \| DISEASES 229 \| ALDOB \| 3.86 \| DISEASES 825 \| CAPN3 \| 1.318 \| DISEASES 4166 \| CHST6 \| 2.2 \| DISEASES 285440 \| CYP4V2 \| 1.68 \| DISEASES 2592 \| GALT \| 1.767 \| DISEASES 2730 \| GCLM \| 1.734 \| DISEASES 3155 \| HMGCL \| 2.23 \| DISEASES 3850 \| KRT3 \| 2.02 \| DISEASES 55788 \| LMBRD1 \| 2.233 \| DISEASES 4143 \| MAT1A \| 2.939 \| DISEASES 51360 \| MBTPS2 \| 1.952 \| DISEASES 79104 \| MEG8 \| 1.346 \| DISEASES 4359 \| MPZ \| 1.235 \| DISEASES 4540 \| MT-ND5 \| 1.476 \| DISEASES 79661 \| NEIL1 \| 2.133 \| DISEASES 4926 \| NUMA1 \| 1.102 \| DISEASES 5799 \| PTPRN2 \| 1.423 \| DISEASES 6161 \| RPL32 \| 2.623 \| DISEASES 26278 \| SACS \| 2.582 \| DISEASES 6303 \| SAT1 \| 1.494 \| DISEASES 26503 \| SLC17A5 \| 1.263 \| DISEASES 10165 \| SLC25A13 \| 3.908 \| DISEASES 788 \| SLC25A20 \| 1.957 \| DISEASES 6646 \| SOAT1 \| 2 \| DISEASES 6708 \| SPTA1 \| 3.043 \| DISEASES 4070 \| TACSTD2 \| 1.456 \| DISEASES 6898 \| TAT \| 7.066 \| DISEASES 7019 \| TFAM \| 1.116 \| DISEASES 7045 \| TGFBI \| 1.079 \| DISEASES 162514 \| TRPV3 \| 2.132 \| DISEASES 29914 \| UBIAD1 \| 2.225 \| DISEASES
Locus	(Waiting for update.)

Disease ID	612
Disease	tyrosinemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0000531 \| Corneal crystals \| 2 HP:0030731 \| Carcinoma \| 1 HP:0000613 \| Extreme light sensitivity \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0001399 \| Liver failure \| 1 HP:0000491 \| Corneal inflammation \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0000124 \| Renal tubular defect \| 1 HP:0002748 \| Rickets \| 1 HP:0001249 \| Mental retardation \| 1

Disease ID	612
Disease	tyrosinemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C2364050 \| hypothermia C2203646 \| jaundice C1837530 \| atic deficiency C1623038 \| cirrhosis C0235270 \| keratopathy C0151747 \| renal tubular dysfunction C0022658 \| nephropathy C0001339 \| acute pancreatitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0023890 \| cirrhosis \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
FAH	NM_000137.2:c.782C>T:p.P261L	doi:10.1038/gim.2016.37	Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121965078	11476670	2184	FAH	umls:C0268483	BeFree	A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.	0.133049073	2001	FAH	15	80173143	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	612
Disease	tyrosinemia
Case	(Waiting for update.)

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