FAH (fumarylacetoacetate hydrolase)

Gene

• Entrez ID: 2184
• Gene name: Fumarylacetoacetate hydrolase
• Gene symbol: FAH
• Synonyms (NCBI Gene): -
• Chromosome: 15
• Chromosome location: 15q25.1
• Summary: This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11555096	C>A,T	Other, pathogenic, benign	Missense variant, coding sequence variant, synonymous variant
rs36122289	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs80338894	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs80338895	G>C,T	Pathogenic	Splice acceptor variant
rs80338897	A>T	Pathogenic	Missense variant, coding sequence variant
rs80338898	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338899	G>A	Pathogenic	Coding sequence variant, stop gained
rs80338900	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338901	G>A	Pathogenic	Intron variant
rs121965073	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs121965074	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121965075	G>T	Pathogenic	Coding sequence variant, stop gained
rs121965076	G>T	Pathogenic	Coding sequence variant, stop gained
rs121965077	A>G	Pathogenic	Missense variant, coding sequence variant
rs121965078	A>G	Pathogenic	Missense variant, coding sequence variant
rs138757552	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147016995	C>A,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs149052294	G>A,T	Pathogenic	Splice acceptor variant
rs201051426	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs370634385	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs370686447	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs372980573	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377480457	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs533540262	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs750741137	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765134063	C>T	Pathogenic	Stop gained, coding sequence variant
rs768180953	ATGACTGTGAGTGACCGCAGCGTCCA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs769550316	C>T	Pathogenic	Stop gained, coding sequence variant
rs771712041	G>A,C	Likely-pathogenic	Splice acceptor variant
rs772895065	T>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs774648934	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs775152764	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs778387055	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs779040832	C>T	Pathogenic	Coding sequence variant, missense variant
rs779284513	TCT>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs779642226	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs781496816	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs786204551	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786204683	G>T	Pathogenic-likely-pathogenic	Splice donor variant
rs886044640	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs970505762	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs980415517	G>A	Pathogenic	Splice donor variant
rs1057516333	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516408	G>A	Likely-pathogenic	Splice donor variant
rs1057516631	T>C,G	Likely-pathogenic	Terminator codon variant, stop lost
rs1057516679	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1057516684	ACTTACCAGTGGGCTACCATGGCCGTGCCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516934	T>A	Likely-pathogenic	Initiator codon variant, missense variant
rs1057517084	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517113	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517201	G>A	Likely-pathogenic	Splice donor variant
rs1057517341	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517436	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517972	A>G	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs1247460110	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1297118863	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555440522	A>G	Likely-pathogenic	Splice acceptor variant
rs1555440603	A>G	Likely-pathogenic	Splice acceptor variant
rs1555441251	A>G	Likely-pathogenic	Splice acceptor variant
rs1555441272	TG>-	Pathogenic-likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1555441597	T>G	Pathogenic-likely-pathogenic	Splice donor variant
rs1555441703	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555441852	->TGGCCCCTGCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555441861	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555442289	A>C	Likely-pathogenic	Splice acceptor variant
rs1555442385	A>G	Likely-pathogenic	Splice acceptor variant
rs1567118987	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1595889891	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595890740	T>G	Likely-pathogenic	Splice donor variant
rs1595894742	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1595897321	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1595897345	GT>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019924	hsa-miR-375	Microarray	20215506
MIRT025492	hsa-miR-34a-5p	Proteomics	21566225
MIRT030485	hsa-miR-24-3p	Microarray	19748357
MIRT048789	hsa-miR-93-5p	CLASH	23622248
MIRT975314	hsa-miR-1305	CLIP-seq
MIRT975315	hsa-miR-3671	CLIP-seq
MIRT975316	hsa-miR-4753-3p	CLIP-seq
MIRT975317	hsa-miR-607	CLIP-seq
MIRT2387607	hsa-miR-1273e	CLIP-seq
MIRT2387608	hsa-miR-296-3p	CLIP-seq
MIRT2387609	hsa-miR-342-5p	CLIP-seq
MIRT2387610	hsa-miR-3936	CLIP-seq
MIRT2387611	hsa-miR-4664-5p	CLIP-seq
MIRT2387612	hsa-miR-488	CLIP-seq
MIRT2387613	hsa-miR-513a-5p	CLIP-seq
MIRT2387614	hsa-miR-636	CLIP-seq
MIRT2527323	hsa-miR-1225-3p	CLIP-seq
MIRT2527324	hsa-miR-1233	CLIP-seq
MIRT2387607	hsa-miR-1273e	CLIP-seq
MIRT2527325	hsa-miR-129-3p	CLIP-seq
MIRT2527326	hsa-miR-1321	CLIP-seq
MIRT2527327	hsa-miR-2278	CLIP-seq
MIRT2387608	hsa-miR-296-3p	CLIP-seq
MIRT2527328	hsa-miR-3180-5p	CLIP-seq
MIRT2387609	hsa-miR-342-5p	CLIP-seq
MIRT2387610	hsa-miR-3936	CLIP-seq
MIRT2527329	hsa-miR-4419a	CLIP-seq
MIRT2527330	hsa-miR-4420	CLIP-seq
MIRT2527331	hsa-miR-4510	CLIP-seq
MIRT2527332	hsa-miR-4650-5p	CLIP-seq
MIRT2387611	hsa-miR-4664-5p	CLIP-seq
MIRT2527333	hsa-miR-4704-3p	CLIP-seq
MIRT2527334	hsa-miR-4730	CLIP-seq
MIRT2527335	hsa-miR-4739	CLIP-seq
MIRT2527336	hsa-miR-4751	CLIP-seq
MIRT2527337	hsa-miR-4756-5p	CLIP-seq
MIRT2527338	hsa-miR-4790-3p	CLIP-seq
MIRT2387612	hsa-miR-488	CLIP-seq
MIRT2387613	hsa-miR-513a-5p	CLIP-seq
MIRT2527339	hsa-miR-520a-5p	CLIP-seq
MIRT2527340	hsa-miR-525-5p	CLIP-seq
MIRT2387614	hsa-miR-636	CLIP-seq
MIRT2527341	hsa-miR-668	CLIP-seq
MIRT2527323	hsa-miR-1225-3p	CLIP-seq
MIRT2527324	hsa-miR-1233	CLIP-seq
MIRT2387607	hsa-miR-1273e	CLIP-seq
MIRT2527325	hsa-miR-129-3p	CLIP-seq
MIRT2527326	hsa-miR-1321	CLIP-seq
MIRT2527327	hsa-miR-2278	CLIP-seq
MIRT2387608	hsa-miR-296-3p	CLIP-seq
MIRT2527328	hsa-miR-3180-5p	CLIP-seq
MIRT2387609	hsa-miR-342-5p	CLIP-seq
MIRT2680445	hsa-miR-3919	CLIP-seq
MIRT2387610	hsa-miR-3936	CLIP-seq
MIRT2527329	hsa-miR-4419a	CLIP-seq
MIRT2527330	hsa-miR-4420	CLIP-seq
MIRT2680446	hsa-miR-4468	CLIP-seq
MIRT2527331	hsa-miR-4510	CLIP-seq
MIRT2527332	hsa-miR-4650-5p	CLIP-seq
MIRT2387611	hsa-miR-4664-5p	CLIP-seq
MIRT2527333	hsa-miR-4704-3p	CLIP-seq
MIRT2527334	hsa-miR-4730	CLIP-seq
MIRT2527335	hsa-miR-4739	CLIP-seq
MIRT2527336	hsa-miR-4751	CLIP-seq
MIRT2527337	hsa-miR-4756-5p	CLIP-seq
MIRT2527338	hsa-miR-4790-3p	CLIP-seq
MIRT2387612	hsa-miR-488	CLIP-seq
MIRT2387613	hsa-miR-513a-5p	CLIP-seq
MIRT2527339	hsa-miR-520a-5p	CLIP-seq
MIRT2527340	hsa-miR-525-5p	CLIP-seq
MIRT2387614	hsa-miR-636	CLIP-seq
MIRT2527341	hsa-miR-668	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004334	Function	Fumarylacetoacetase activity	IBA
GO:0004334	Function	Fumarylacetoacetase activity	IEA
GO:0004334	Function	Fumarylacetoacetase activity	TAS	1998338
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0006527	Process	L-arginine catabolic process	IEA
GO:0006559	Process	L-phenylalanine catabolic process	IBA
GO:0006559	Process	L-phenylalanine catabolic process	IEA
GO:0006572	Process	L-tyrosine catabolic process	IBA
GO:0006572	Process	L-tyrosine catabolic process	IEA
GO:0006572	Process	L-tyrosine catabolic process	TAS	9305902
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009072	Process	Aromatic amino acid metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1902000	Process	Homogentisate catabolic process	IBA

Other IDs

• MIM: 613871
• HGNC: 3579
• e!Ensembl: ENSG00000103876

Protein

• UniProt ID: P16930
• Protein name: Fumarylacetoacetase (FAA) (EC 3.7.1.2) (Beta-diketonase) (Fumarylacetoacetate hydrolase)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09298	FAA_hydrolase_N	15 → 118	Fumarylacetoacetase N-terminal	Domain
  PF01557	FAA_hydrolase	123 → 413	Fumarylacetoacetate (FAA) hydrolase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
• Sequence:

  MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQD
  VFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPAT
  IGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQM
  KPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQ
  KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS
  VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG
  SMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS

• Sequence length: 419

Pathways

KEGG:

Tyrosine metabolism
Metabolic pathways

Reactome:

Tyrosine catabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Beta-D-mannosidosis	Likely pathogenic	rs1057517201	RCV004544721	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FAH-related disorder	Likely pathogenic; Pathogenic	rs80338901, rs121965075, rs80338895, rs80338898	RCV003407317 RCV003407318 RCV004752701 RCV004752715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs1555442385	RCV005901511	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2142107894	RCV005922534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs80338901	RCV005887462	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
T-substance anomaly	Pathogenic	rs80338894	RCV003445079	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Likely pathogenic; Pathogenic	rs80338901	RCV005887463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs80338895	RCV005887464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tyrosinemia	Likely pathogenic; Pathogenic	rs80338901, rs1057517972	RCV004798722 RCV004798829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tyrosinemia type I	Likely pathogenic; Pathogenic	rs1057517972, rs1595890740, rs2041368952, rs2142090708, rs1193030161, rs765527687, rs2142101647, rs754444882, rs2142101046, rs2142107894, rs2142105483, rs2142112670, rs2142101007, rs2142103306, rs2041114940, rs2142105542, rs2142090831, rs772895065, rs1268482591, rs2142097906, rs1297118863, rs2142105509, rs2041065908, rs373302756, rs2505841612, rs786204683, rs781496816, rs771712041, rs786204551, rs1595894742, rs2505861322, rs2505834859, rs2041155203, rs886044640, rs2041247681, rs2505850316, rs2505850609, rs121965073, rs121965074, rs121965076, rs80338900, rs80338901, rs121965075, rs121965077, rs80338899, rs80338895, rs121965078, rs1315840625, rs1343211837, rs1252692081, rs2505855036, rs11555097, rs747300179, rs2041254879, rs2041210221, rs1167783894, rs2505842572, rs2041271232, rs757682374, rs1555442289, rs2505853729, rs2505861280, rs1020717976, rs773450608, rs2505859174, rs1387788860, rs1057516408, rs2505856991, rs2505844514, rs2505850100, rs2505856822, rs2505842582, rs2505856831, rs2041156486, rs2505844529, rs2505834785, rs1247460110, rs2505844477, rs2505850594, rs2505855047, rs2505850314, rs2505853906, rs2505861359, rs2041065544, rs80338894, rs80338896, rs80338897, rs80338898, rs2505861241, rs2505850621, rs2505862101, rs2505859229, rs2505853708, rs1057516934, rs1057517341, rs779642226, rs1057516679, rs1057516684, rs1057517113, rs1057517084, rs750741137, rs1057517436, rs1057517201, rs1057516333, rs1057516631, rs769550316, rs1555440522, rs1555440603, rs778387055, rs1555441703, rs1555441852, rs770713168, rs1555441595, rs970505762, rs779040832, rs1555442385, rs1555441272, rs533540262, rs1555441597, rs1555441861, rs1555441251, rs149052294, rs1595889891, rs1595897321, rs768180953, rs1595897345, rs1567118987, rs765134063, rs980415517, rs2041131954, rs2041326700, rs1420414848, rs766882348, rs2041318487, rs747546798, rs1171235203, rs2041210282, rs2041138762, rs2041155591, rs2041255686, rs2041271608, rs2041294652, rs2041316956, rs2041065794, rs370686447	RCV001376937 RCV001379872 RCV001377387 RCV001386192 RCV001389730 RCV001387636 RCV001384369 RCV001728049 RCV001783237 RCV001795584 RCV002027925 RCV001884381 RCV001911782 RCV001895014 RCV001874170 RCV001986849 RCV001939363 RCV002036343 RCV001958650 RCV001956309 RCV002050944 RCV001951445 RCV002249974 RCV002308273 RCV002310116 RCV000169491 RCV000169065 RCV000169069 RCV000169267 RCV003064290 RCV002630829 RCV002635009 RCV002741375 RCV002801918 RCV002933093 RCV003054966 RCV003226638 RCV003230877 RCV000012640 RCV000012641 RCV000012642 RCV000012644 RCV000012645 RCV000012646 RCV000012647 RCV000012648 RCV000012649 RCV000012650 RCV000984172 RCV003460100 RCV003468077 RCV003468078 RCV003460101 RCV003460102 RCV003460103 RCV003460104 RCV003468079 RCV003460105 RCV003460106 RCV003468080 RCV003468081 RCV003460108 RCV003460109 RCV003460110 RCV003460111 RCV003460112 RCV003468082 RCV003460113 RCV003460114 RCV003448820 RCV003518273 RCV003518358 RCV003518752 RCV003516926 RCV003517746 RCV003633752 RCV003633850 RCV003634653 RCV003635069 RCV003635131 RCV003635223 RCV003635334 RCV003634190 RCV003865413 RCV003857027 RCV003990616 RCV000020126 RCV000020127 RCV000020128 RCV000020129 RCV004547285 RCV004576498 RCV004576499 RCV004576500 RCV004576501 RCV004576502 RCV004576503 RCV004576504 RCV000412267 RCV000410365 RCV000409344 RCV000410626 RCV000410205 RCV000409617 RCV000412142 RCV000409803 RCV000409747 RCV000409787 RCV000411340 RCV000409775 RCV000411156 RCV000410008 RCV000409632 RCV000984171 RCV000454161 RCV000502414 RCV000541997 RCV000665905 RCV000669746 RCV000674680 RCV000666109 RCV000673058 RCV000668164 RCV000670317 RCV000674888 RCV000665974 RCV000674452 RCV000667011 RCV000667407 RCV000666812 RCV000665299 RCV000671736 RCV000666014 RCV000674905 RCV000673102 RCV000699322 RCV000786984 RCV000813518 RCV000816762 RCV000801084 RCV000989362 RCV000989363 RCV001004595 RCV001004597 RCV001004598 RCV001068812 RCV001055325 RCV001051750 RCV001192778 RCV001192777 RCV001222787 RCV001215629 RCV001216255 RCV001207091 RCV001202858 RCV001230099 RCV001240948 RCV001264276 RCV001264277 RCV001264278 RCV001263703 RCV001263704 RCV001270865 RCV000179256	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tyrosinemia type II	Pathogenic	rs80338894	RCV004576910	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-MANNOSIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fumarylacetoacetase pseudodeficiency	Benign; Likely benign; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertyrosinemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal tubulopathies	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYROSINE TRANSAMINASE DEFICIENCY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYROSINEMIA TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYROSINEMIA, TYPE I	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYROSINEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10098735		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9095403		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11476670	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33218190	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34704422	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	37890478	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24016420	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	15759101		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11196105, 27397503, 27510266, 27855279		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	6573531		★☆☆☆☆ Found in Text Mining only
Deficiency of maleylacetoacetate isomerase	Deficiency Of Maleylacetoacetate Isomerase	BEFREE	29326876		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29497141	Associate	★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10094191, 10098735, 10232749, 10464622, 7581462, 9169126, 9382107, 9628816, 9713825, 9721219		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	10936108, 9382107	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	10232749, 10464622, 9169126, 9382107, 9628816, 9713825, 9721219		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	33669532	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27510266		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28938550		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	BEFREE	21308989		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	7568087	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertyrosinemia	Hypertyrosinemia	BEFREE	1350265, 1594329, 16494511, 2378356, 27510266, 7929843		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	28755194		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	36369907	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11196105, 11476670, 14691918, 27397503, 28755181, 30975706		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11196105, 27397503, 27510266, 27855279		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	24016420	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	11196105, 29578506		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	9095403		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11196105		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10098735		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	11532983, 7545495		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28755183, 30368954		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29371990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	11209059, 11532983, 1401056, 31300554, 9633815		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11476670, 9728332		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22272336	Associate	★☆☆☆☆ Found in Text Mining only
Paralytic Ileus	Paralytic Ileus	HPO_DG			★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	29884476		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	8005583		★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	10232749		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	24016420	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	9295289		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	30536986		★☆☆☆☆ Found in Text Mining only
Tyrosine Transaminase Deficiency Disease	Tyrosinemia	CTD_human_DG	12899938, 23895425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemia type 1	Tyrosinemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemia, Type I	Tyrosinemia	BEFREE	10073910, 11209059, 11278491, 11532983, 11754109, 12127941, 12137232, 12203990, 1350265, 14691918, 15521007, 1594329, 16263080, 17096595, 1749221, 20621682, 21308989, 21765802, 22554029, 22884142, 23000314, 23250512, 2378356, 2378358, 23895425, 24756054, 26565546, 27397503, 27510266, 27876694, 28053091, 28712060, 28755192, 29507093, 30368954, 30954369, 31300554, 31568711, 31611405, 7545495, 7929843, 7942842, 7977370, 8005583, 8028615, 8076937, 8253377, 8318997, 8364576, 8473520, 8707285, 8829657, 9095403, 9101289, 9705236, 9728332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemia, Type I	Tyrosinemia	CLINVAR_DG	10508789, 11278491, 11476670, 11754109, 12203990, 12555948, 14691918, 15187789, 15465000, 15638932, 16521249, 21117323, 21752152, 21764616, 22002443, 22554029, 22802474, 22975760, 23193487, 23225041, 23348723, 23430822, 23430836, 23895425, 23927806, 24016420, 24555242, 24756054, 25081276, 25087612, 25256450, 25681080, 26565546, 27814443, 28755192, 7757089, 7929843, 7942842, 8005583, 8028615, 8076937, 8162054, 8318997, 8364576, 8557261, 8723690, 8723698, 8821854, 8829657, 9101289, 9633815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemia, Type I	Tyrosinemia	UNIPROT_DG	11196105, 11278491, 11476670, 1401056, 20003495, 7550234, 7757089, 7942842, 7977370, 8005583, 8318997, 8364576, 8557261, 9633815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemia, Type I	Tyrosinemia	CLINGEN_DG	11209059, 22884142, 2378356, 26829318, 7296877, 7550234, 7942842, 8162054, 8253378, 8318997, 9095403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemia, Type I	Tyrosinemia	CTD_human_DG	12899938, 23895425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemia, Type I	Tyrosinemia	GENOMICS_ENGLAND_DG	15759101, 27604308, 8318997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemia, Type III	Tyrosinemia	CTD_human_DG	12899938, 23895425		★☆☆☆☆ Found in Text Mining only
Tyrosinemias	Tyrosinemia	BEFREE	11196105, 11209059, 11278491, 1350265, 1401056, 15759101, 1594329, 16494511, 17096595, 22002443, 2378356, 26829318, 27510266, 28053091, 28755182, 29764210, 3591520, 4000758, 4064334, 7929843, 8253377, 8364576, 8557261, 8707285, 8821854, 9633815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemias	Tyrosinemia	LHGDN	11476670, 15465000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemias	Tyrosinemia	Pubtator	11476670, 20003495, 24016420, 31300554, 31568711, 33218190, 33882394, 34704422, 36369907, 36463171, 39260601, 7913582, 7929843, 7942842, 7977370, 8028615, 8473520, 8707285	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemias	Tyrosinemia	CTD_human_DG	12899938, 23895425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosinemias	Tyrosinemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations