GATM (glycine amidinotransferase)

Gene

• Entrez ID: 2628
• Gene name: Glycine amidinotransferase
• Gene symbol: GATM
• Synonyms (NCBI Gene): AGAT, AT, CCDS3, FRTS, FRTS1, RFS
• Chromosome: 15
• Chromosome location: 15q21.1
• Summary: This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1346268	T>A,C,G	Drug-response	Genic upstream transcript variant, intron variant
rs80338737	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs80338738	C>A	Pathogenic	Splice donor variant
rs148564534	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151231277	A>G	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397514708	G>A	Pathogenic	Coding sequence variant, stop gained
rs397514709	T>G	Pathogenic	Coding sequence variant, missense variant
rs397515542	->T	Pathogenic	Coding sequence variant, frameshift variant
rs775933965	G>A	Pathogenic	Coding sequence variant, stop gained
rs1566842679	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021061	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT021061	hsa-miR-155-5p	Reporter assay;Other	18668040
MIRT024805	hsa-miR-215-5p	Microarray	19074876
MIRT026928	hsa-miR-192-5p	Microarray	19074876
MIRT657944	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657943	hsa-miR-1264	HITS-CLIP	23824327
MIRT657942	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT657941	hsa-miR-567	HITS-CLIP	23824327
MIRT657940	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT657939	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT657938	hsa-miR-297	HITS-CLIP	23824327
MIRT657937	hsa-miR-4263	HITS-CLIP	23824327
MIRT657936	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT657935	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT657934	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT657944	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657943	hsa-miR-1264	HITS-CLIP	23824327
MIRT657942	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT657941	hsa-miR-567	HITS-CLIP	23824327
MIRT657940	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT657939	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT657938	hsa-miR-297	HITS-CLIP	23824327
MIRT657937	hsa-miR-4263	HITS-CLIP	23824327
MIRT657936	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT657935	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT657934	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT1013521	hsa-let-7a	CLIP-seq
MIRT1013522	hsa-let-7b	CLIP-seq
MIRT1013523	hsa-let-7c	CLIP-seq
MIRT1013524	hsa-let-7d	CLIP-seq
MIRT1013525	hsa-let-7e	CLIP-seq
MIRT1013526	hsa-let-7f	CLIP-seq
MIRT1013527	hsa-let-7g	CLIP-seq
MIRT1013528	hsa-let-7i	CLIP-seq
MIRT1013529	hsa-miR-181a	CLIP-seq
MIRT1013530	hsa-miR-181b	CLIP-seq
MIRT1013531	hsa-miR-181c	CLIP-seq
MIRT1013532	hsa-miR-181d	CLIP-seq
MIRT1013533	hsa-miR-202	CLIP-seq
MIRT1013534	hsa-miR-203	CLIP-seq
MIRT1013535	hsa-miR-3148	CLIP-seq
MIRT1013536	hsa-miR-3171	CLIP-seq
MIRT1013537	hsa-miR-3647-3p	CLIP-seq
MIRT1013538	hsa-miR-3688-3p	CLIP-seq
MIRT1013539	hsa-miR-4262	CLIP-seq
MIRT1013540	hsa-miR-4282	CLIP-seq
MIRT1013541	hsa-miR-4426	CLIP-seq
MIRT1013542	hsa-miR-4647	CLIP-seq
MIRT1013543	hsa-miR-4662b	CLIP-seq
MIRT1013544	hsa-miR-490-5p	CLIP-seq
MIRT1013545	hsa-miR-543	CLIP-seq
MIRT1013546	hsa-miR-548ae	CLIP-seq
MIRT1013547	hsa-miR-548aj	CLIP-seq
MIRT1013548	hsa-miR-548am	CLIP-seq
MIRT1013549	hsa-miR-548x	CLIP-seq
MIRT1013550	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IBA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	9218780
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0006600	Process	Creatine metabolic process	IMP	26490222
GO:0006601	Process	Creatine biosynthetic process	IBA
GO:0006601	Process	Creatine biosynthetic process	IDA	9218780
GO:0006601	Process	Creatine biosynthetic process	IEA
GO:0007611	Process	Learning or memory	IMP	26490222
GO:0014889	Process	Muscle atrophy	IMP	26490222
GO:0015067	Function	Amidinotransferase activity	IDA	36543883
GO:0015067	Function	Amidinotransferase activity	IEA
GO:0015068	Function	Glycine amidinotransferase activity	IBA
GO:0015068	Function	Glycine amidinotransferase activity	IDA	9218780, 27233232
GO:0015068	Function	Glycine amidinotransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	28844881

Other IDs

• MIM: 602360
• HGNC: 4175
• e!Ensembl: ENSG00000171766

Protein

• UniProt ID: P50440
• Protein name: Glycine amidinotransferase, mitochondrial (EC 2.1.4.1) (L-arginine:glycine amidinotransferase) (Transamidinase)
• Protein function: Transamidinase that catalyzes the transfer of the amidino group of L-arginine onto the amino moiety of acceptor metabolites such as glycine, beta-alanine, gamma-aminobutyric acid (GABA) and taurine yielding the corresponding guanidine derivative
• PDB: 1JDW, 1JDX, 2JDW, 2JDX, 3JDW, 4JDW, 5JDW, 6JDW, 7JDW, 8JDW, 9JDW
• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues. {ECO:0000269|PubMed:16125225, ECO:0000269|PubMed:1
• Sequence:

  MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPL
  PKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHL
  KKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEII
  EAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAA
  QGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPN
  PMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSM
  NVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQS
  YLD

• Sequence length: 423

Pathways

KEGG:

Glycine, serine and threonine metabolism
Arginine and proline metabolism
Metabolic pathways

Reactome:

Creatine metabolism

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
Arginine:glycine amidinotransferase deficiency	Likely pathogenic; Pathogenic	rs2140644920, rs2140646735, rs2140641896, rs775933965, rs1217229880, rs80338737, rs1889477819, rs1461653218, rs2542005145, rs2542006088, rs2541986290, rs2541984266, rs2541989303, rs2541994594, rs2542009946, rs1032267288, rs1889480453, rs2541984182, rs1159856922, rs2542009773, rs80338738, rs1566842679, rs1244824806, rs397515542, rs397514708, rs397514709, rs1889443484	RCV002019076 RCV001946847 RCV001884143 RCV002305458 RCV002828399 RCV000007725 RCV003159284 RCV003159285 RCV003507657 RCV003508168 RCV003508170 RCV003506929 RCV003507013 RCV003507217 RCV003618294 RCV003618750 RCV003617338 RCV003617372 RCV003617436 RCV003859853 RCV000020462 RCV000694186 RCV001779072 RCV000049331 RCV000049332 RCV000049334 RCV001228102	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi renotubular syndrome 1	Likely pathogenic; Pathogenic	rs2140657166, rs1325460408, rs80338738, rs397514708, rs1889443535	RCV001843325 RCV002279784 RCV005007885 RCV002490622 RCV001174509	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AGAT DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARGININE-GLYCINE AMIDINOTRANSFERASE DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CREATINE DEFICIENCY SYNDROME 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DE TONI-DEBRE-FANCONI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATM-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY FANCONI RENOTUBULAR SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY FANCONI SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	23776447		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29026990, 30420903		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29340021		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	22797469	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	26944953		★☆☆☆☆ Found in Text Mining only
Arginine:Glycine Amidinotransferase Deficiency	Arginine-Glycine Amidinotransferase Deficiency	GENOMICS_ENGLAND_DG	10762163, 11555793, 27604308, 29654216		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arginine:Glycine Amidinotransferase Deficiency	Arginine-Glycine Amidinotransferase Deficiency	UNIPROT_DG	11555793, 20682460, 22386973, 23660394, 23770102, 26490222, 27233232		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arginine:Glycine Amidinotransferase Deficiency	Arginine-Glycine Amidinotransferase Deficiency	CLINGEN_DG	11555793, 13192118, 17789505, 20625172, 20682460, 22386973, 23026748, 23129796, 23770102, 26490222, 27233232, 28808834, 8473283		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arginine:Glycine Amidinotransferase Deficiency	Arginine-Glycine Amidinotransferase Deficiency	BEFREE	12889668, 15625559, 21308988, 22386973, 26490222, 27233232		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arginine:Glycine Amidinotransferase Deficiency	Arginine-Glycine Amidinotransferase Deficiency	CLINVAR_DG	20682460		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arginine:Glycine Amidinotransferase Deficiency	Arginine-Glycine Amidinotransferase Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autistic Disorder	Autism	Pubtator	28758966	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	28148286		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	18657476		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30633220		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23923007, 24586608, 25706383, 29113381, 29326301, 29386221, 29893377, 30271201, 30572455		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	24591754, 31191744		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of bladder	Bladder carcinoma	BEFREE	30633220		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36319832	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25888189	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34301206	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	33461409	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	24004504		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	20861917		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29137333		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24985882		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30478681		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29222632		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27713147, 30378010, 31810907		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	16820567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	16820567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27713173, 29147624		★☆☆☆☆ Found in Text Mining only
Creatine deficiency, X-linked	Creatine deficiency	BEFREE	21308988, 28758966		★☆☆☆☆ Found in Text Mining only
Creatine deficiency, X-linked	Creatine deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29237416		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	39838413	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30524915		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	21663782		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30340465		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	36148635, 37286521	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	30478681		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24586608		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36838582	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24586608		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Guanidinoacetate methyltransferase deficiency	Guanidinoacetate Methyltransferase Deficiency	BEFREE	12889668, 15625559, 21308988, 25192512, 29229397		★☆☆☆☆ Found in Text Mining only
Guanidinoacetate methyltransferase deficiency	Guanidinoacetate methyltransferase deficiency	Pubtator	39402976	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	16820567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	16820567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	16820567		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	32083545	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30854141		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	22061828		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	34071541	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	36148635	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	31152163		★☆☆☆☆ Found in Text Mining only
L-Arginine:glycine amidinotransferase deficiency	L-Arginine:Glycine Amidinotransferase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	16820567		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34635505	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23962568, 28167152, 29141648		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25303284, 28122307, 29115664, 29290780, 30018179, 30478681, 30617773, 31727135		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30478681		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23923007, 24586608, 25706383, 29113381, 29326301, 29386221, 29893377, 30572455		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30524915		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21965145		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24352663, 29473345, 30340465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30480382		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30633220		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28536308, 29767232, 31387183		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29222632		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	26861125		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27604545		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	19427194, 23235802, 26305864		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31039200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28167152		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	16820567		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	23995691, 24835295, 25313593, 25863251, 29950617		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22644297, 23235802, 23923007, 24559140, 25401330, 26113782, 26305864, 28213783, 28417335, 28435452, 28439713, 28838393, 29100362, 29317756, 29626307, 29746612, 30388143, 30478681, 30576338, 30781400, 31119840		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	11555793	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30617773		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	31832114		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30576338, 31498939		★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	Pontoneocerebellar hypoplasia	BEFREE	30988817		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30950667		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	21594562		★☆☆☆☆ Found in Text Mining only
Primary Fanconi renotubular syndrome	Fanconi Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	21965145		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21965145	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25888189		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30420903		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24586608, 30781400, 31782831		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24352663, 29473345, 30340465		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30480382		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30480382		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	24703318		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28849078, 30613163		★☆☆☆☆ Found in Text Mining only
Tyrosine Kinase 2 Deficiency	Tyrosine kinase 2 deficiency	Pubtator	34635505	Stimulate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only