Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	84706
Gene name	Glutamic--pyruvic transaminase 2
Gene symbol	GPT2
Synonyms (NCBI Gene)	ALT2GPT 2MRT49NEDSPM
Chromosome	16
Chromosome location	16q11.2
Summary	This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino ac

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs115352435	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs786203999	C>G	Pathogenic	Coding sequence variant, missense variant
rs886041649	G>T	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1437184398	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained

175

Show/Hide all (175)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020600	hsa-miR-155-5p	Proteomics	18668040
MIRT028719	hsa-miR-27a-3p	Sequencing	20371350
MIRT044565	hsa-miR-320a	CLASH	23622248
MIRT035805	hsa-miR-1909-5p	CLASH	23622248
MIRT718052	hsa-miR-4738-5p	HITS-CLIP	19536157
MIRT718051	hsa-miR-6741-3p	HITS-CLIP	19536157
MIRT718050	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT718048	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT718049	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT718047	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT513032	hsa-miR-4783-3p	PAR-CLIP	23446348
MIRT513031	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT513030	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT513029	hsa-miR-5093	PAR-CLIP	23446348
MIRT513028	hsa-miR-6762-3p	PAR-CLIP	23446348
MIRT513027	hsa-miR-3190-3p	PAR-CLIP	23446348
MIRT513025	hsa-miR-3911	PAR-CLIP	23446348
MIRT513026	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT513024	hsa-miR-6833-5p	PAR-CLIP	23446348
MIRT718052	hsa-miR-4738-5p	HITS-CLIP	19536157
MIRT718051	hsa-miR-6741-3p	HITS-CLIP	19536157
MIRT718050	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT718048	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT718049	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT718047	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT513032	hsa-miR-4783-3p	PAR-CLIP	23446348
MIRT513031	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT513030	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT513029	hsa-miR-5093	PAR-CLIP	23446348
MIRT513028	hsa-miR-6762-3p	PAR-CLIP	23446348
MIRT513027	hsa-miR-3190-3p	PAR-CLIP	23446348
MIRT513025	hsa-miR-3911	PAR-CLIP	23446348
MIRT513026	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT513024	hsa-miR-6833-5p	PAR-CLIP	23446348
MIRT1032410	hsa-miR-1228	CLIP-seq
MIRT1032411	hsa-miR-1229	CLIP-seq
MIRT1032412	hsa-miR-124	CLIP-seq
MIRT1032413	hsa-miR-1254	CLIP-seq
MIRT1032414	hsa-miR-125a-3p	CLIP-seq
MIRT1032415	hsa-miR-1266	CLIP-seq
MIRT1032416	hsa-miR-2681	CLIP-seq
MIRT1032417	hsa-miR-27a	CLIP-seq
MIRT1032418	hsa-miR-27b	CLIP-seq
MIRT1032419	hsa-miR-30a	CLIP-seq
MIRT1032420	hsa-miR-30b	CLIP-seq
MIRT1032421	hsa-miR-30c	CLIP-seq
MIRT1032422	hsa-miR-30d	CLIP-seq
MIRT1032423	hsa-miR-30e	CLIP-seq
MIRT1032424	hsa-miR-3116	CLIP-seq
MIRT1032425	hsa-miR-3158-3p	CLIP-seq
MIRT1032426	hsa-miR-3180-5p	CLIP-seq
MIRT1032427	hsa-miR-323-5p	CLIP-seq
MIRT1032428	hsa-miR-338-3p	CLIP-seq
MIRT1032429	hsa-miR-3613-5p	CLIP-seq
MIRT1032430	hsa-miR-3646	CLIP-seq
MIRT1032431	hsa-miR-3664-3p	CLIP-seq
MIRT1032432	hsa-miR-377	CLIP-seq
MIRT1032433	hsa-miR-3918	CLIP-seq
MIRT1032434	hsa-miR-3934	CLIP-seq
MIRT1032435	hsa-miR-3977	CLIP-seq
MIRT1032436	hsa-miR-423-3p	CLIP-seq
MIRT1032437	hsa-miR-4269	CLIP-seq
MIRT1032438	hsa-miR-4496	CLIP-seq
MIRT1032439	hsa-miR-4512	CLIP-seq
MIRT1032440	hsa-miR-4518	CLIP-seq
MIRT1032441	hsa-miR-4520a-3p	CLIP-seq
MIRT1032442	hsa-miR-4520b-3p	CLIP-seq
MIRT1032443	hsa-miR-4529-3p	CLIP-seq
MIRT1032444	hsa-miR-4530	CLIP-seq
MIRT1032445	hsa-miR-488	CLIP-seq
MIRT1032446	hsa-miR-494	CLIP-seq
MIRT1032447	hsa-miR-506	CLIP-seq
MIRT1032448	hsa-miR-513a-3p	CLIP-seq
MIRT1032449	hsa-miR-513a-5p	CLIP-seq
MIRT1032450	hsa-miR-548an	CLIP-seq
MIRT1032451	hsa-miR-549	CLIP-seq
MIRT1032452	hsa-miR-550a	CLIP-seq
MIRT1032453	hsa-miR-604	CLIP-seq
MIRT1032454	hsa-miR-647	CLIP-seq
MIRT1032455	hsa-miR-661	CLIP-seq
MIRT1032456	hsa-miR-764	CLIP-seq
MIRT1032457	hsa-miR-876-3p	CLIP-seq
MIRT1032458	hsa-miR-922	CLIP-seq
MIRT1032426	hsa-miR-3180-5p	CLIP-seq
MIRT1032459	hsa-miR-329	CLIP-seq
MIRT1032460	hsa-miR-362-3p	CLIP-seq
MIRT1032430	hsa-miR-3646	CLIP-seq
MIRT1032461	hsa-miR-4676-5p	CLIP-seq
MIRT1032462	hsa-miR-4773	CLIP-seq
MIRT1032445	hsa-miR-488	CLIP-seq
MIRT1032463	hsa-miR-520a-5p	CLIP-seq
MIRT1032464	hsa-miR-525-5p	CLIP-seq
MIRT1032465	hsa-miR-548p	CLIP-seq
MIRT1032466	hsa-miR-575	CLIP-seq
MIRT2006263	hsa-miR-1184	CLIP-seq
MIRT2006264	hsa-miR-1205	CLIP-seq
MIRT1032410	hsa-miR-1228	CLIP-seq
MIRT1032412	hsa-miR-124	CLIP-seq
MIRT2006265	hsa-miR-1290	CLIP-seq
MIRT2006266	hsa-miR-130a	CLIP-seq
MIRT2006267	hsa-miR-130b	CLIP-seq
MIRT2006268	hsa-miR-136	CLIP-seq
MIRT2006269	hsa-miR-221	CLIP-seq
MIRT2006270	hsa-miR-222	CLIP-seq
MIRT2006271	hsa-miR-301a	CLIP-seq
MIRT2006272	hsa-miR-301b	CLIP-seq
MIRT2006273	hsa-miR-3064-3p	CLIP-seq
MIRT2006274	hsa-miR-3065-3p	CLIP-seq
MIRT1032419	hsa-miR-30a	CLIP-seq
MIRT1032420	hsa-miR-30b	CLIP-seq
MIRT1032421	hsa-miR-30c	CLIP-seq
MIRT1032422	hsa-miR-30d	CLIP-seq
MIRT1032423	hsa-miR-30e	CLIP-seq
MIRT2006275	hsa-miR-3158-5p	CLIP-seq
MIRT2006276	hsa-miR-3167	CLIP-seq
MIRT1032426	hsa-miR-3180-5p	CLIP-seq
MIRT2006277	hsa-miR-3190	CLIP-seq
MIRT1032459	hsa-miR-329	CLIP-seq
MIRT1032428	hsa-miR-338-3p	CLIP-seq
MIRT1032460	hsa-miR-362-3p	CLIP-seq
MIRT2006278	hsa-miR-3666	CLIP-seq
MIRT1032432	hsa-miR-377	CLIP-seq
MIRT2006279	hsa-miR-3922-5p	CLIP-seq
MIRT2006280	hsa-miR-3941	CLIP-seq
MIRT1032435	hsa-miR-3977	CLIP-seq
MIRT2006281	hsa-miR-4293	CLIP-seq
MIRT2006282	hsa-miR-4295	CLIP-seq
MIRT1032444	hsa-miR-4530	CLIP-seq
MIRT2006283	hsa-miR-454	CLIP-seq
MIRT2006284	hsa-miR-4691-5p	CLIP-seq
MIRT1032445	hsa-miR-488	CLIP-seq
MIRT1032447	hsa-miR-506	CLIP-seq
MIRT1032448	hsa-miR-513a-3p	CLIP-seq
MIRT2006285	hsa-miR-515-5p	CLIP-seq
MIRT2006286	hsa-miR-519a	CLIP-seq
MIRT2006287	hsa-miR-519b-3p	CLIP-seq
MIRT2006288	hsa-miR-519c-3p	CLIP-seq
MIRT2006289	hsa-miR-548v	CLIP-seq
MIRT2006290	hsa-miR-603	CLIP-seq
MIRT2006291	hsa-miR-759	CLIP-seq
MIRT2006292	hsa-miR-767-3p	CLIP-seq
MIRT2006293	hsa-miR-876-5p	CLIP-seq
MIRT1032458	hsa-miR-922	CLIP-seq
MIRT1032412	hsa-miR-124	CLIP-seq
MIRT2006279	hsa-miR-3922-5p	CLIP-seq
MIRT1032447	hsa-miR-506	CLIP-seq
MIRT2006285	hsa-miR-515-5p	CLIP-seq
MIRT2006266	hsa-miR-130a	CLIP-seq
MIRT2006267	hsa-miR-130b	CLIP-seq
MIRT2006271	hsa-miR-301a	CLIP-seq
MIRT2006272	hsa-miR-301b	CLIP-seq
MIRT1032426	hsa-miR-3180-5p	CLIP-seq
MIRT2006278	hsa-miR-3666	CLIP-seq
MIRT2006282	hsa-miR-4295	CLIP-seq
MIRT2006283	hsa-miR-454	CLIP-seq
MIRT2006285	hsa-miR-515-5p	CLIP-seq
MIRT2450681	hsa-miR-3199	CLIP-seq
MIRT2450682	hsa-miR-4292	CLIP-seq
MIRT2450683	hsa-miR-4725-5p	CLIP-seq
MIRT2450684	hsa-miR-504	CLIP-seq
MIRT2542633	hsa-miR-105	CLIP-seq
MIRT1032417	hsa-miR-27a	CLIP-seq
MIRT1032418	hsa-miR-27b	CLIP-seq
MIRT2542634	hsa-miR-3691-3p	CLIP-seq
MIRT1032449	hsa-miR-513a-5p	CLIP-seq
MIRT2542633	hsa-miR-105	CLIP-seq
MIRT1032411	hsa-miR-1229	CLIP-seq
MIRT1032417	hsa-miR-27a	CLIP-seq
MIRT1032418	hsa-miR-27b	CLIP-seq
MIRT2542634	hsa-miR-3691-3p	CLIP-seq
MIRT2682057	hsa-miR-3919	CLIP-seq
MIRT2682058	hsa-miR-3925-5p	CLIP-seq
MIRT2682059	hsa-miR-4756-3p	CLIP-seq
MIRT1032449	hsa-miR-513a-5p	CLIP-seq
MIRT2682060	hsa-miR-589	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004021	Function	L-alanine:2-oxoglutarate aminotransferase activity	IDA	11863375
GO:0004021	Function	L-alanine:2-oxoglutarate aminotransferase activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006103	Process	2-oxoglutarate metabolic process	IDA	11863375
GO:0008483	Function	Transaminase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0042851	Process	L-alanine metabolic process	IDA	11863375
GO:0042853	Process	L-alanine catabolic process	IEA

MIM	HGNC	e!Ensembl
138210	18062	ENSG00000166123

Q8TD30

Protein name

Alanine aminotransferase 2 (ALT2) (EC 2.6.1.2) (Glutamate pyruvate transaminase 2) (GPT 2) (Glutamic--alanine transaminase 2) (Glutamic--pyruvic transaminase 2)

Protein function

Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.

PDB

3IHJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00155	Aminotran_1_2	110 → 511	Aminotransferase class I and II	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in muscle, adipose tissue, kidney and brain and at lower levels in the liver and breast. {ECO:0000269|PubMed:11863375}.

Sequence

MQRAAALVRRGCGPRTPSSWGRSQSSAAAEASAVLKVRPERSRRERILTLESMNPQVKAV
EYAVRGPIVLKAGEIELELQRGIKKPFTEVIRANIGDAQAMGQQPITFLRQVMALCTYPN
LLDSPSFPEDAKKRARRILQACGGNSLGSYSASQGVNCIREDVAAYITRRDGGVPADPDN
IYLTTGASDGISTILKILVSGGGKSRTGVMIPIPQYPLYSAVISELDAIQVNYYLDEENC
WALNVNELRRAVQEAKDHCDPKVLCIINPGNPTGQVQSRKCIEDVIHFAWEEKLFLLADE
VYQDNVYSPDCRFHSFKKVLYEMGPEYSSNVELASFHSTSKGYMGECGYRGGYMEVINLH
PEIKGQLVKLLSVRLCPPVSGQAAMDIVVNPPVAGEESFEQFSREKESVLGNLAKKAKLT
EDLFNQVPGIHCNPLQGAMYAFPRIFIPAKAVEAAQAHQMAPDMFYCMKLLEETGICVVP
GSGFGQREGTYHFRMTILPPVEKLKTVLQKVKDFHINFLEKYA

Sequence length

523

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glutamate pyruvate transaminase 2 deficiency	Likely pathogenic; Pathogenic	rs190315044, rs786203999, rs115352435, rs2548953788, rs1596864597, rs2548982827, rs2548963176, rs1437184398, rs1420397443, rs1372862248, rs1961429340, rs1961013082, rs2548985626	RCV001782232 RCV000167577 RCV000241531 RCV003314313 RCV003314494 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs2548963125	RCV001257001	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (32)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aggressive behavior	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed speech and language development	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frequent falls	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GPT2-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GPT2-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 73	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (53)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrophy	Atrophy	Pubtator	35196498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28839461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27732857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36527113	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30639778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27321283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27732857, 36821417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30542389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complicated hereditary spastic paraplegia	Spastic paraplegia	BEFREE	29882329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	31471722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31471722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31471722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29882329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	24901346, 25758935, 27601654, 28130718, 29226631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25758935, 29882329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	37883219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25758935, 29226631		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25758935		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	25758935, 29667327, 31471722, 35196498	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	29882329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	BEFREE	26890364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30639778, 31107725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30639778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28839461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27732857		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49	Mental retardation	UNIPROT_DG	25758935		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49	Mental retardation	ORPHANET_DG	25758935, 27601654		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	25758935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	29226631, 29882329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35196498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	24901346, 25758935, 27601654, 28130718, 29226631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24027430		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27601654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31706267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	31471722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26824323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	24027430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	29667327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	29226631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	29882329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24890309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

GPT2 (glutamic--pyruvic transaminase 2)