ALDH1A2 (aldehyde dehydrogenase 1 family member A2)

Gene

• Entrez ID: 8854
• Gene name: Aldehyde dehydrogenase 1 family member A2
• Gene symbol: ALDH1A2
• Synonyms (NCBI Gene): DIH4, RALDH(II), RALDH2, RALDH2-T
• Chromosome: 15
• Chromosome location: 15q21.3
• Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020672	hsa-miR-155-5p	Proteomics	18668040
MIRT047601	hsa-miR-10a-5p	CLASH	23622248
MIRT047601	hsa-miR-10a-5p	CLASH	23622248
MIRT041305	hsa-miR-193b-3p	CLASH	23622248
MIRT039966	hsa-miR-615-3p	CLASH	23622248
MIRT650255	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT632090	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT632089	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT632088	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT632087	hsa-miR-4301	HITS-CLIP	23824327
MIRT632086	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT632079	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT632078	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT632074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT632090	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT632089	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT632088	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT632087	hsa-miR-4301	HITS-CLIP	23824327
MIRT632086	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT632085	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT632084	hsa-miR-5193	HITS-CLIP	23824327
MIRT632083	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT632082	hsa-miR-4287	HITS-CLIP	23824327
MIRT632081	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT281547	hsa-miR-621	HITS-CLIP	23824327
MIRT632080	hsa-miR-4268	HITS-CLIP	23824327
MIRT632079	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT632078	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT632077	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT632076	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT632075	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT632074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT650255	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT632090	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT632089	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT632088	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT632087	hsa-miR-4301	HITS-CLIP	23824327
MIRT632086	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT632079	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT632078	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT632074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT632090	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT632089	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT632088	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT632087	hsa-miR-4301	HITS-CLIP	23824327
MIRT632086	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT632085	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT632084	hsa-miR-5193	HITS-CLIP	23824327
MIRT632083	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT632082	hsa-miR-4287	HITS-CLIP	23824327
MIRT632081	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT281547	hsa-miR-621	HITS-CLIP	23824327
MIRT632080	hsa-miR-4268	HITS-CLIP	23824327
MIRT632079	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT632078	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT632077	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT632076	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT632075	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT632074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT776947	hsa-miR-1254	CLIP-seq
MIRT776948	hsa-miR-137	CLIP-seq
MIRT776949	hsa-miR-24	CLIP-seq
MIRT776950	hsa-miR-3116	CLIP-seq
MIRT776951	hsa-miR-3176	CLIP-seq
MIRT776952	hsa-miR-3661	CLIP-seq
MIRT776953	hsa-miR-3922-3p	CLIP-seq
MIRT776954	hsa-miR-3944-5p	CLIP-seq
MIRT776955	hsa-miR-4257	CLIP-seq
MIRT776956	hsa-miR-4284	CLIP-seq
MIRT776957	hsa-miR-631	CLIP-seq
MIRT776958	hsa-miR-661	CLIP-seq
MIRT776959	hsa-miR-1207-3p	CLIP-seq
MIRT776960	hsa-miR-1298	CLIP-seq
MIRT776961	hsa-miR-1912	CLIP-seq
MIRT776962	hsa-miR-3130-5p	CLIP-seq
MIRT776963	hsa-miR-3154	CLIP-seq
MIRT776964	hsa-miR-3185	CLIP-seq
MIRT776965	hsa-miR-338-3p	CLIP-seq
MIRT776966	hsa-miR-3617	CLIP-seq
MIRT776967	hsa-miR-3910	CLIP-seq
MIRT776968	hsa-miR-4310	CLIP-seq
MIRT776969	hsa-miR-4426	CLIP-seq
MIRT776970	hsa-miR-4480	CLIP-seq
MIRT776971	hsa-miR-4482	CLIP-seq
MIRT776972	hsa-miR-4504	CLIP-seq
MIRT776973	hsa-miR-4530	CLIP-seq
MIRT776974	hsa-miR-4647	CLIP-seq
MIRT776975	hsa-miR-4662b	CLIP-seq
MIRT776976	hsa-miR-4708-3p	CLIP-seq
MIRT776977	hsa-miR-4738-3p	CLIP-seq
MIRT776978	hsa-miR-542-3p	CLIP-seq
MIRT776979	hsa-miR-548g	CLIP-seq
MIRT776980	hsa-miR-641	CLIP-seq
MIRT776981	hsa-miR-7	CLIP-seq
MIRT776982	hsa-miR-758	CLIP-seq
MIRT2443545	hsa-miR-3126-5p	CLIP-seq
MIRT2443546	hsa-miR-3919	CLIP-seq
MIRT2443547	hsa-miR-4797-5p	CLIP-seq
MIRT2472904	hsa-miR-3156-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA3	Unknown	9819382
TAL1	Activation	9819382

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IEA
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	IDA	29240402
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	IEA
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	ISS
GO:0001822	Process	Kidney development	IEA
GO:0001889	Process	Liver development	IEA
GO:0002138	Process	Retinoic acid biosynthetic process	IDA	29240402
GO:0002138	Process	Retinoic acid biosynthetic process	IEA
GO:0002138	Process	Retinoic acid biosynthetic process	IMP	33565183
GO:0003007	Process	Heart morphogenesis	IEA
GO:0004028	Function	3-chloroallyl aldehyde dehydrogenase activity	IEA
GO:0004028	Function	3-chloroallyl aldehyde dehydrogenase activity	ISS
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA
GO:0005737	Component	Cytoplasm	IDA	18495959
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006081	Process	Aldehyde metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006776	Process	Vitamin A metabolic process	NAS	8663198
GO:0007494	Process	Midgut development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16166285
GO:0009855	Process	Determination of bilateral symmetry	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014032	Process	Neural crest cell development	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0016918	Function	Retinal binding	IEA
GO:0016918	Function	Retinal binding	ISS
GO:0021915	Process	Neural tube development	IMP	16237707
GO:0021983	Process	Pituitary gland development	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032526	Process	Response to retinoic acid	IMP	33565183
GO:0033189	Process	Response to vitamin A	IEA
GO:0034097	Process	Response to cytokine	IDA	18495959
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035799	Process	Ureter maturation	IEA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IMP	33565183
GO:0042573	Process	Retinoic acid metabolic process	ISS
GO:0042574	Process	Retinal metabolic process	IEA
GO:0042904	Process	9-cis-retinoic acid biosynthetic process	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0048384	Process	Retinoic acid receptor signaling pathway	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048566	Process	Embryonic digestive tract development	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0051289	Process	Protein homotetramerization	IDA	29240402
GO:0060324	Process	Face development	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:1905562	Process	Regulation of vascular endothelial cell proliferation	IEA

Other IDs

• MIM: 603687
• HGNC: 15472
• e!Ensembl: ENSG00000128918

Protein

• UniProt ID: O94788
• Protein name: Retinal dehydrogenase 2 (RALDH 2) (RalDH2) (EC 1.2.1.36) (Aldehyde dehydrogenase family 1 member A2) (ALDH1A2) (Retinaldehyde-specific dehydrogenase type 2) (RALDH(II))
• Protein function: Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (PubMed:2
• PDB: 4X2Q, 6ALJ, 6B5G, 6B5H, 6B5I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	46 → 509	Aldehyde dehydrogenase family	Family

• Sequence:

  MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKIFINNEWQNSESGRVFPVYNP
  ATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASERGRLLDKLADLVERDRAVL
  ATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVC
  GQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGALIKEAGFPPGVINILP
  GYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADAD
  LDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQG
  PQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFG
  PVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQ
  SPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS

• Sequence length: 518

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

RA biosynthesis pathway

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
Diaphragmatic hernia 4, with cardiovascular defects	Pathogenic	rs2504837607, rs2504834746, rs749124508, rs141245344	RCV002280840 RCV002280841 RCV002280842 RCV002280843	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALDH1A2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOID LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERICARDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma Of Esophagus	Esophageal Cancer	GWASCAT_DG	24121790, 27527254		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	25447851		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	31419939		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	20385819, 20385826, 21665990, 23455636		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	20385826, 21665990, 23455636, 26691988		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	30805717		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28539831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	23639973		★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	23437350		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	25045800		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	25045800		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	25045800		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	GWASDB_DG	24121790		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	GWASCAT_DG	24121790, 27527254		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25447851, 26783083	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	26783083, 29967615		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25582316		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25582316, 30850363, 35132081	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23639973		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31419443	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35286894	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29430185, 31615043		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASDB_DG	18179892		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	26089329, 27790247		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	36263470	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36263470	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	25416379		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	19886994		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19886994		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	24728293		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	24728293		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28089900, 29732726		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	37873933	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic malformations	Pubtator	36263470	Associate	★☆☆☆☆ Found in Text Mining only
Digestive System Disorders	Digestive System Disorders	GWASCAT_DG	24121790		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29430185		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	25045800		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26783083		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	30379862	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	30379862	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30379862		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	GWASCAT_DG	24121790		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34572134	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	22179738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30885956		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	19886994	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25929466	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	31767031	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	39662927	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	36263470	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35275975	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	GWASCAT_DG	24121790		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26089329		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22035350	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23507523	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31419443		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22079344	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25582316		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31615043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16166285, 27643404		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16166285		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30958995		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	16237707		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	LHGDN	16237707		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	CTD_human_DG	16237707		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	24884875	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	21386085, 22399527		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	21386085, 22399527, 29632305, 30382898		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	26023078, 30815722		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	26023078, 30815722		★☆☆☆☆ Found in Text Mining only
Myelocele	Myelocele	CTD_human_DG	16237707		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34680942	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16166285, 27724856, 29430185, 31615043		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	16237707, 25293959, 29297599		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	25293959, 29297599	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25524880, 27724856		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26366059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	28089900, 29732726, 29741735	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Knee	Osteoarthritis	Pubtator	28089900	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28089900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	24728293		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31615043		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19110304	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	25045800		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	25045800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	25045800		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	25208926, 9819382		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16166285, 27643404		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16166285		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16166285		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	25045800		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	25208926		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36263470	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25208926		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19703508, 31165892		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19703508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spina Bifida	Spina Bifida	BEFREE	16237707		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32238162	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30379862		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27015121	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	19886994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	19886994, 36263470	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23639973		★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	20375987		★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin a deficiency	Pubtator	20375987	Associate	★☆☆☆☆ Found in Text Mining only