MAT1A (methionine adenosyltransferase 1A)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4143
• Gene name: Methionine adenosyltransferase 1A
• Gene symbol: MAT1A
• Synonyms (NCBI Gene): MAT, MATA1, SAMS, SAMS1
• Chromosome: 10
• Chromosome location: 10q22.3
• Summary: This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl gro

SNPs Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72558181	C>T	Pathogenic	Missense variant, coding sequence variant
rs118204001	A>C	Pathogenic	Missense variant, coding sequence variant
rs118204002	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs118204003	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs118204004	A>G	Pathogenic	Missense variant, coding sequence variant
rs118204005	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204006	C>T	Pathogenic	Missense variant, coding sequence variant
rs138556525	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs376757912	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs376993881	G>A	Pathogenic	Coding sequence variant, missense variant
rs913435613	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517759	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1131691739	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1203137107	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1554841212	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA Show/Hide all (216)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018853	hsa-miR-335-5p	Microarray	18185580
MIRT437450	hsa-miR-664a-3p	Luciferase reporter assay	23241961
MIRT437451	hsa-miR-485-3p	Luciferase reporter assay	23241961
MIRT437452	hsa-miR-495-3p	Luciferase reporter assay	23241961
MIRT722268	hsa-miR-3156-5p	HITS-CLIP	19536157
MIRT722267	hsa-miR-888-3p	HITS-CLIP	19536157
MIRT722266	hsa-miR-7161-3p	HITS-CLIP	19536157
MIRT722265	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT722264	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722263	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722262	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT488209	hsa-miR-1321	PAR-CLIP	23592263
MIRT488208	hsa-miR-4739	PAR-CLIP	23592263
MIRT488207	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT488206	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488205	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488203	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT488204	hsa-miR-4487	PAR-CLIP	23592263
MIRT488202	hsa-miR-4419a	PAR-CLIP	23592263
MIRT488201	hsa-miR-4510	PAR-CLIP	23592263
MIRT488200	hsa-miR-6127	PAR-CLIP	23592263
MIRT488199	hsa-miR-6129	PAR-CLIP	23592263
MIRT488198	hsa-miR-6130	PAR-CLIP	23592263
MIRT488197	hsa-miR-6133	PAR-CLIP	23592263
MIRT488196	hsa-miR-6131	PAR-CLIP	23592263
MIRT488195	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT488194	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT488192	hsa-miR-4300	PAR-CLIP	23592263
MIRT488193	hsa-miR-5591-5p	PAR-CLIP	23592263
MIRT488191	hsa-miR-6726-5p	PAR-CLIP	23592263
MIRT488190	hsa-miR-920	PAR-CLIP	23592263
MIRT488189	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488188	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488187	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488186	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488185	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT488184	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT488183	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488182	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488180	hsa-miR-5698	PAR-CLIP	23592263
MIRT488181	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488179	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488178	hsa-miR-6801-5p	PAR-CLIP	23592263
MIRT488195	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT488209	hsa-miR-1321	PAR-CLIP	26701625
MIRT488185	hsa-miR-1343-5p	PAR-CLIP	26701625
MIRT488189	hsa-miR-149-3p	PAR-CLIP	26701625
MIRT488192	hsa-miR-4300	PAR-CLIP	26701625
MIRT488202	hsa-miR-4419a	PAR-CLIP	26701625
MIRT488204	hsa-miR-4487	PAR-CLIP	26701625
MIRT488201	hsa-miR-4510	PAR-CLIP	26701625
MIRT488206	hsa-miR-4716-3p	PAR-CLIP	26701625
MIRT488182	hsa-miR-4723-5p	PAR-CLIP	26701625
MIRT488188	hsa-miR-4728-5p	PAR-CLIP	26701625
MIRT488208	hsa-miR-4739	PAR-CLIP	26701625
MIRT488207	hsa-miR-4756-5p	PAR-CLIP	26701625
MIRT488193	hsa-miR-5591-5p	PAR-CLIP	26701625
MIRT488180	hsa-miR-5698	PAR-CLIP	26701625
MIRT488200	hsa-miR-6127	PAR-CLIP	26701625
MIRT488199	hsa-miR-6129	PAR-CLIP	26701625
MIRT488198	hsa-miR-6130	PAR-CLIP	26701625
MIRT488196	hsa-miR-6131	PAR-CLIP	26701625
MIRT488197	hsa-miR-6133	PAR-CLIP	26701625
MIRT488191	hsa-miR-6726-5p	PAR-CLIP	26701625
MIRT488187	hsa-miR-6785-5p	PAR-CLIP	26701625
MIRT488205	hsa-miR-6794-5p	PAR-CLIP	26701625
MIRT488194	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT488178	hsa-miR-6801-5p	PAR-CLIP	26701625
MIRT488203	hsa-miR-6823-5p	PAR-CLIP	26701625
MIRT488183	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT488181	hsa-miR-6870-5p	PAR-CLIP	26701625
MIRT488186	hsa-miR-6883-5p	PAR-CLIP	26701625
MIRT488179	hsa-miR-7111-5p	PAR-CLIP	26701625
MIRT488190	hsa-miR-920	PAR-CLIP	26701625
MIRT488184	hsa-miR-939-5p	PAR-CLIP	26701625
MIRT722268	hsa-miR-3156-5p	HITS-CLIP	19536157
MIRT722267	hsa-miR-888-3p	HITS-CLIP	19536157
MIRT722266	hsa-miR-7161-3p	HITS-CLIP	19536157
MIRT722265	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT722264	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722263	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722262	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT488209	hsa-miR-1321	PAR-CLIP	23592263
MIRT488208	hsa-miR-4739	PAR-CLIP	23592263
MIRT488207	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT488206	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488205	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488203	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT488204	hsa-miR-4487	PAR-CLIP	23592263
MIRT488202	hsa-miR-4419a	PAR-CLIP	23592263
MIRT488201	hsa-miR-4510	PAR-CLIP	23592263
MIRT488200	hsa-miR-6127	PAR-CLIP	23592263
MIRT488199	hsa-miR-6129	PAR-CLIP	23592263
MIRT488198	hsa-miR-6130	PAR-CLIP	23592263
MIRT488197	hsa-miR-6133	PAR-CLIP	23592263
MIRT488196	hsa-miR-6131	PAR-CLIP	23592263
MIRT488195	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT488194	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT488192	hsa-miR-4300	PAR-CLIP	23592263
MIRT488193	hsa-miR-5591-5p	PAR-CLIP	23592263
MIRT488191	hsa-miR-6726-5p	PAR-CLIP	23592263
MIRT488190	hsa-miR-920	PAR-CLIP	23592263
MIRT488189	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488188	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488187	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488186	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488185	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT488184	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT488183	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488182	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488180	hsa-miR-5698	PAR-CLIP	23592263
MIRT488181	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488179	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488178	hsa-miR-6801-5p	PAR-CLIP	23592263
MIRT1133366	hsa-miR-1207-3p	CLIP-seq
MIRT1133367	hsa-miR-1275	CLIP-seq
MIRT1133368	hsa-miR-1343	CLIP-seq
MIRT1133369	hsa-miR-193a-3p	CLIP-seq
MIRT1133370	hsa-miR-193b	CLIP-seq
MIRT1133371	hsa-miR-2110	CLIP-seq
MIRT1133372	hsa-miR-214	CLIP-seq
MIRT1133373	hsa-miR-29a	CLIP-seq
MIRT1133374	hsa-miR-29b	CLIP-seq
MIRT1133375	hsa-miR-29c	CLIP-seq
MIRT1133376	hsa-miR-3065-3p	CLIP-seq
MIRT1133377	hsa-miR-3147	CLIP-seq
MIRT1133378	hsa-miR-3150a-3p	CLIP-seq
MIRT1133379	hsa-miR-3163	CLIP-seq
MIRT1133380	hsa-miR-3175	CLIP-seq
MIRT1133381	hsa-miR-3192	CLIP-seq
MIRT1133382	hsa-miR-338-3p	CLIP-seq
MIRT1133383	hsa-miR-3619-5p	CLIP-seq
MIRT1133384	hsa-miR-3622b-5p	CLIP-seq
MIRT1133385	hsa-miR-4267	CLIP-seq
MIRT1133386	hsa-miR-4271	CLIP-seq
MIRT1133387	hsa-miR-4289	CLIP-seq
MIRT1133388	hsa-miR-4291	CLIP-seq
MIRT1133389	hsa-miR-4425	CLIP-seq
MIRT1133390	hsa-miR-4525	CLIP-seq
MIRT1133391	hsa-miR-4530	CLIP-seq
MIRT1133392	hsa-miR-4665-5p	CLIP-seq
MIRT1133393	hsa-miR-4667-5p	CLIP-seq
MIRT1133394	hsa-miR-4700-5p	CLIP-seq
MIRT1133395	hsa-miR-4720-5p	CLIP-seq
MIRT1133396	hsa-miR-4725-3p	CLIP-seq
MIRT1133397	hsa-miR-4731-5p	CLIP-seq
MIRT1133398	hsa-miR-4733-3p	CLIP-seq
MIRT1133399	hsa-miR-4747-5p	CLIP-seq
MIRT1133400	hsa-miR-4755-3p	CLIP-seq
MIRT1133401	hsa-miR-4777-3p	CLIP-seq
MIRT1133402	hsa-miR-4799-3p	CLIP-seq
MIRT1133403	hsa-miR-491-5p	CLIP-seq
MIRT1133404	hsa-miR-548m	CLIP-seq
MIRT1133405	hsa-miR-625	CLIP-seq
MIRT1133406	hsa-miR-671-5p	CLIP-seq
MIRT1133407	hsa-miR-761	CLIP-seq
MIRT1133408	hsa-miR-766	CLIP-seq
MIRT1133409	hsa-miR-892b	CLIP-seq
MIRT1133410	hsa-miR-922	CLIP-seq
MIRT1133411	hsa-miR-939	CLIP-seq
MIRT1551173	hsa-miR-665	CLIP-seq
MIRT2037994	hsa-miR-1205	CLIP-seq
MIRT2037995	hsa-miR-1909	CLIP-seq
MIRT2037996	hsa-miR-300	CLIP-seq
MIRT2037997	hsa-miR-3187-3p	CLIP-seq
MIRT2037998	hsa-miR-381	CLIP-seq
MIRT2037999	hsa-miR-4475	CLIP-seq
MIRT2038000	hsa-miR-4643	CLIP-seq
MIRT2038001	hsa-miR-596	CLIP-seq
MIRT2038002	hsa-miR-624	CLIP-seq
MIRT1551173	hsa-miR-665	CLIP-seq
MIRT2038003	hsa-miR-767-3p	CLIP-seq
MIRT1133366	hsa-miR-1207-3p	CLIP-seq
MIRT2267975	hsa-miR-1272	CLIP-seq
MIRT1133369	hsa-miR-193a-3p	CLIP-seq
MIRT1133370	hsa-miR-193b	CLIP-seq
MIRT1133373	hsa-miR-29a	CLIP-seq
MIRT1133374	hsa-miR-29b	CLIP-seq
MIRT1133375	hsa-miR-29c	CLIP-seq
MIRT1133376	hsa-miR-3065-3p	CLIP-seq
MIRT2037997	hsa-miR-3187-3p	CLIP-seq
MIRT1133382	hsa-miR-338-3p	CLIP-seq
MIRT1133384	hsa-miR-3622b-5p	CLIP-seq
MIRT2267976	hsa-miR-3682-3p	CLIP-seq
MIRT2267977	hsa-miR-3714	CLIP-seq
MIRT1133385	hsa-miR-4267	CLIP-seq
MIRT2267978	hsa-miR-4438	CLIP-seq
MIRT2267979	hsa-miR-4529-5p	CLIP-seq
MIRT1133391	hsa-miR-4530	CLIP-seq
MIRT2267980	hsa-miR-4685-5p	CLIP-seq
MIRT1133395	hsa-miR-4720-5p	CLIP-seq
MIRT1133398	hsa-miR-4733-3p	CLIP-seq
MIRT2267981	hsa-miR-4786-5p	CLIP-seq
MIRT1133402	hsa-miR-4799-3p	CLIP-seq
MIRT2267982	hsa-miR-548an	CLIP-seq
MIRT1133406	hsa-miR-671-5p	CLIP-seq
MIRT1133408	hsa-miR-766	CLIP-seq
MIRT2267983	hsa-miR-769-5p	CLIP-seq
MIRT1133409	hsa-miR-892b	CLIP-seq
MIRT2390643	hsa-miR-3125	CLIP-seq
MIRT2037997	hsa-miR-3187-3p	CLIP-seq
MIRT2390644	hsa-miR-3916	CLIP-seq
MIRT2390645	hsa-miR-3928	CLIP-seq
MIRT2390646	hsa-miR-4435	CLIP-seq
MIRT2390647	hsa-miR-4701-5p	CLIP-seq
MIRT2390648	hsa-miR-548s	CLIP-seq
MIRT2390649	hsa-miR-588	CLIP-seq
MIRT2390650	hsa-miR-877	CLIP-seq
MIRT1133387	hsa-miR-4289	CLIP-seq
MIRT2453771	hsa-miR-616	CLIP-seq
MIRT1133387	hsa-miR-4289	CLIP-seq
MIRT2453771	hsa-miR-616	CLIP-seq
MIRT2684664	hsa-miR-331-3p	CLIP-seq
MIRT1133385	hsa-miR-4267	CLIP-seq
MIRT2267981	hsa-miR-4786-5p	CLIP-seq
MIRT2267983	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004478	Function	Methionine adenosyltransferase activity	IBA
GO:0004478	Function	Methionine adenosyltransferase activity	IDA	10677294
GO:0004478	Function	Methionine adenosyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006556	Process	S-adenosylmethionine biosynthetic process	IBA
GO:0006556	Process	S-adenosylmethionine biosynthetic process	IDA	25075345
GO:0006556	Process	S-adenosylmethionine biosynthetic process	IEA
GO:0006556	Process	S-adenosylmethionine biosynthetic process	IMP	10677294
GO:0006556	Process	S-adenosylmethionine biosynthetic process	ISS
GO:0006730	Process	One-carbon metabolic process	IEA
GO:0009087	Process	L-methionine catabolic process	IMP	10677294
GO:0016740	Function	Transferase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0048269	Component	Methionine adenosyltransferase complex	IEA
GO:0048269	Component	Methionine adenosyltransferase complex	IPI	25075345, 37917677
GO:0051259	Process	Protein complex oligomerization	IEA
GO:0051289	Process	Protein homotetramerization	IDA	23425511

Other IDs

• MIM: 610550
• HGNC: 6903
• e!Ensembl: ENSG00000151224

Protein

• UniProt ID: Q00266
• Protein name: S-adenosylmethionine synthase isoform type-1 (AdoMet synthase 1) (EC 2.5.1.6) (Methionine adenosyltransferase 1) (MAT 1) (Methionine adenosyltransferase I/III) (MAT-I/III)
• Protein function: Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the t
• PDB: 2OBV , 6SW5 , 6SW6 , 8SWA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00438	S-AdoMet_synt_N	17 → 115	S-adenosylmethionine synthetase, N-terminal domain	Domain
  PF02772	S-AdoMet_synt_M	129 → 250	S-adenosylmethionine synthetase, central domain	Domain
  PF02773	S-AdoMet_synt_C	252 → 389	S-adenosylmethionine synthetase, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in liver. {ECO:0000269|PubMed:8393662}.
• Sequence:

  MNGPVDGLCDHSLSEGVFMFTSESVGEGHPDKICDQISDAVLDAHLKQDPNAKVACETVC
  KTGMVLLCGEITSMAMVDYQRVVRDTIKHIGYDDSAKGFDFKTCNVLVALEQQSPDIAQC
  VHLDRNEEDVGAGDQGLMFGYATDETEECMPLTIILAHKLNARMADLRRSGLLPWLRPDS
  KTQVTVQYMQDNGAVIPVRIHTIVISVQHNEDITLEEMRRALKEQVIRAVVPAKYLDEDT
  VYHLQPSGRFVIGGPQGDAGVTGRKIIVDTYGGWGAHGGGAFSGKDYTKVDRSAAYAARW
  VAKSLVKAGLCRRVLVQVSYAIGVAEPLSISIFTYGTSQKTERELLDVVHKNFDLRPGVI
  VRDLDLKKPIYQKTACYGHFGRSEFPWEVPRKLVF

• Sequence length: 395

Pathways

KEGG Pathway	Reactome Pathway
Cysteine and methionine metabolism	Methylation
One carbon pool by folate	Sulfur amino acid metabolism
Metabolic pathways	Metabolism of ingested SeMet, Sec, MeSec into H2Se
Biosynthesis of amino acids	Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD)
Biosynthesis of cofactors

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
Colon adenocarcinoma	Pathogenic	rs138556525	RCV005895468	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatic methionine adenosyltransferase deficiency	Likely pathogenic; Pathogenic	rs773267230, rs118204001, rs118204003, rs118204004, rs763178849, rs1364515992, rs72558181, rs118204005, rs1186170316, rs372757656, rs1229896690, rs756522673, rs2492507192, rs2492489562, rs138556525, rs144099376, rs1057517759, rs372852106, rs1564645686, rs1481783985, rs2492497226, rs2492489031, rs913435613, rs376993881, rs1241692940, rs1554840677, rs116659053, rs373792557, rs1841639385, rs944263459	RCV001999844 RCV000001261 RCV000001263 RCV000001264 RCV000001265 RCV000001266 RCV000001267 RCV000001269 RCV002717265 RCV002820913 RCV002904143 RCV003007276 RCV003019820 RCV003128357 RCV000540793 RCV001855164 RCV003525313 RCV003525314 RCV003523613 RCV003637764 RCV003637731 RCV003637818 RCV001865323 RCV000763218 RCV000701281 RCV000802617 RCV001035213 RCV001063875 RCV001233273 RCV001879918	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MAT1A-related disorder	Pathogenic	rs118204005, rs138556525	RCV004752674 RCV003391023	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (21)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS	—	CTD, Disgenet CTD, Disgenet	7560086, 8770875	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	8770875	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	12060674	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	38411962	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMYELINATING DISEASES	—	CTD, Disgenet CTD, Disgenet	8770875	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	23665415	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	26305897	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	12060674	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPLASIA	—	CTD	12060674	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
methionine adenosyltransferase deficiency	—	ClinGen	10677294,1527987,1683972,3812486,4421454,7229751,7560086,8770875, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	37386247	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (80)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	28719100		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	25925782		★☆☆☆☆ Found in Text Mining only
Amino Acid Metabolism, Inborn Errors	Disorder of amino acid metabolism	CTD_human_DG	7560086, 8770875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amino Acid Metabolism, Inherited Disorders	Inherited Errors of Amino Acid Metabolism	CTD_human_DG	7560086, 8770875		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	30165906		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31600961		★☆☆☆☆ Found in Text Mining only
Brain demyelination due to methionine adenosyltransferase deficiency	Brain Demyelination	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27816361		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37628631	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	14530285, 18045590, 20146079, 21678410, 22270009, 24098708, 30776190, 31959915, 35008908, 37240447	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24377546	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31600961		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20335551		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20335551	Associate	★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20335551		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	25925782		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	27981602		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11131452		★☆☆☆☆ Found in Text Mining only
Clinically Isolated Syndrome, CNS Demyelinating	Demyelinating Diseases	CTD_human_DG	8770875		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	10677294	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30615095		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35712285, 37543674	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27213918		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26108676, 30610787, 30776190, 32453965	Associate	★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	9475592		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	23973726		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30615095		★☆☆☆☆ Found in Text Mining only
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	23993429		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	10677294	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating Diseases	CTD_human_DG	8770875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	23665415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	8770875		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	28448764		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	12060674		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	20815019, 28132890		★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	10677294	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30615095		★☆☆☆☆ Found in Text Mining only
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	BEFREE	10677294, 21308989, 22178350, 23993429, 25557781, 26289392, 30389272, 8770875		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	CLINVAR_DG	10677294, 11278456, 15935930, 18500573, 20675163, 23425511, 23430947, 24445979, 25638462, 26289392, 26933843, 28186605, 28748147, 7560086, 9042912		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	UNIPROT_DG	10677294, 7560086, 8770875, 9042912		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	CLINGEN_DG	11320206, 14476836, 14832292, 16435220, 20675163, 23973726, 24231718, 26933843, 7560086, 8770875, 9482646		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	ORPHANET_DG	22951388		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	GENOMICS_ENGLAND_DG	26289392, 27604308, 4421454		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Homocystinuria	Homocystinuria	BEFREE	31641591		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29307522		★☆☆☆☆ Found in Text Mining only
Hypermethioninemia due to deficiency of glycine N-methyltransferase	Glycine N-methyltransferase deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20335551	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20335551		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11131452, 11427482, 14530285, 16054984, 16614071, 17154373, 18983843, 20102719, 20146079, 20815019, 21678410, 22270009, 22318685, 23073625, 23241961, 23665184, 24098708, 24377546, 25925782, 29448301, 29749642, 31496615, 8393662, 8903381		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	12060674		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11131452		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	8393662		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	22270009	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	20815019, 22270009, 24377546, 29733835		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27816361		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	11208539, 25925782, 29141455, 8903381		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23334854		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30264470		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31600961		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25925782, 27213918, 29141455, 29749642		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20815019		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16602702, 20018890, 25833062, 25925782, 9850086		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10213491, 1855077		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28132890		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	20815019, 31496615		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23334854		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23334854, 31706267	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30264470		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	18226951	Associate	★☆☆☆☆ Found in Text Mining only
S-adenosylhomocysteine hydrolase deficiency	S-Adenosylhomocysteine Hydrolase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	40016701	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	23036162		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities(SAMS)	BEFREE	12116210, 9475592		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	12060674		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	12631701, 16614071, 28132890		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	20335551	Associate	★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	20058203		★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	21308989		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

AHCY 3 shared diseasesAmino acid metabolism disorder, S-adenosylhomocysteine hydrolase deficiency, Hepatic methionine adenosyltransferase deficiency 4 shared pathwaysCysteine and methionine metabolism, One carbon pool by folate, Methylation, Sulfur amino acid metabolism 4 shared evidence sourcesCTD (Amino acid metabolism disorder), Disgenet (Amino acid metabolism disorder), Disgenet (S-adenosylhomocysteine hydrolase deficiency), Disgenet (Hepatic methionine adenosyltransferase deficiency) Related via 4 shared pathways including Cysteine and methionine metabolism, One carbon pool by folate — evidence mostly Disgenet. CNDP2 3 shared diseasesDiabetic neuropathy, Fatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 3 shared diseases including Diabetic neuropathy, Fatty liver — evidence mostly Disgenet. HHEX 3 shared diseasesDiabetic neuropathy, Fatty liver, Fatty liver, alcoholic 6 shared evidence sourcesDisgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2), GWAS catalog (Diabetic neuropathy), Disgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 3 shared diseases including Diabetic neuropathy, Fatty liver — evidence mostly Disgenet. DHRS7 2 shared diseasesFatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet. HAS3 2 shared diseasesFatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
AHCY	3	["Amino acid metabolism disorder","S-adenosylhomocysteine hydrolase deficiency","Hepatic methionine adenosyltransferase deficiency"]	4	["Cysteine and methionine metabolism","One carbon pool by folate","Methylation","Sulfur amino acid metabolism"]	4	["CTD (Amino acid metabolism disorder)","Disgenet (Amino acid metabolism disorder)","Disgenet (S-adenosylhomocysteine hydrolase deficiency)","Disgenet (Hepatic methionine adenosyltransferase deficiency)"]
CNDP2	3	["Diabetic neuropathy","Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
HHEX	3	["Diabetic neuropathy","Fatty liver","Fatty liver, alcoholic"]	0	[]	6	["Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)","GWAS catalog (Diabetic neuropathy)","Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
DHRS7	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
HAS3	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]

Diseases Linked via Similar Genes

Atrial fibrillation Linked via 2 of 5 related genesHHEX, HAS3 Androgenetic alopecia Linked via 1 of 5 related genesAHCY Sulfur amino acid metabolism disorder Linked via 1 of 5 related genesAHCY Hepatolenticular degeneration Linked via 1 of 5 related genesAHCY Hypoxia Linked via 1 of 5 related genesAHCY

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Atrial fibrillation	2	["HHEX","HAS3"]
Androgenetic alopecia	1	["AHCY"]
Sulfur amino acid metabolism disorder	1	["AHCY"]
Hepatolenticular degeneration	1	["AHCY"]
Hypoxia	1	["AHCY"]