CHDH (choline dehydrogenase)

Gene

• Entrez ID: 55349
• Gene name: Choline dehydrogenase
• Gene symbol: CHDH
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3p21.1
• Summary: The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016262	hsa-miR-193b-3p	Microarray	20304954
MIRT026237	hsa-miR-192-5p	Microarray	19074876
MIRT626439	hsa-miR-10a-5p	HITS-CLIP	23824327
MIRT626438	hsa-miR-10b-5p	HITS-CLIP	23824327
MIRT626437	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT626436	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT626435	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT626434	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT626433	hsa-miR-3135b	HITS-CLIP	23824327
MIRT626432	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT626431	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626430	hsa-miR-3652	HITS-CLIP	23824327
MIRT626429	hsa-miR-4430	HITS-CLIP	23824327
MIRT626428	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626427	hsa-miR-5698	HITS-CLIP	23824327
MIRT626439	hsa-miR-10a-5p	HITS-CLIP	23824327
MIRT626438	hsa-miR-10b-5p	HITS-CLIP	23824327
MIRT626437	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT626436	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT626435	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT626434	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT626433	hsa-miR-3135b	HITS-CLIP	23824327
MIRT626432	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT626431	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626430	hsa-miR-3652	HITS-CLIP	23824327
MIRT626429	hsa-miR-4430	HITS-CLIP	23824327
MIRT626428	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626427	hsa-miR-5698	HITS-CLIP	23824327
MIRT440948	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440948	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT626439	hsa-miR-10a-5p	HITS-CLIP	23824327
MIRT626438	hsa-miR-10b-5p	HITS-CLIP	23824327
MIRT626437	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT626436	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT626435	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT626434	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT626433	hsa-miR-3135b	HITS-CLIP	23824327
MIRT626432	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT626431	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626430	hsa-miR-3652	HITS-CLIP	23824327
MIRT626429	hsa-miR-4430	HITS-CLIP	23824327
MIRT626428	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626427	hsa-miR-5698	HITS-CLIP	23824327
MIRT626439	hsa-miR-10a-5p	HITS-CLIP	23824327
MIRT626438	hsa-miR-10b-5p	HITS-CLIP	23824327
MIRT626437	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT626436	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT626435	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT626434	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT626433	hsa-miR-3135b	HITS-CLIP	23824327
MIRT626432	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT626431	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626430	hsa-miR-3652	HITS-CLIP	23824327
MIRT626429	hsa-miR-4430	HITS-CLIP	23824327
MIRT626428	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT626427	hsa-miR-5698	HITS-CLIP	23824327
MIRT889621	hsa-miR-106a	CLIP-seq
MIRT889622	hsa-miR-106b	CLIP-seq
MIRT889623	hsa-miR-1200	CLIP-seq
MIRT889624	hsa-miR-1202	CLIP-seq
MIRT889625	hsa-miR-122	CLIP-seq
MIRT889626	hsa-miR-1225-3p	CLIP-seq
MIRT889627	hsa-miR-1227	CLIP-seq
MIRT889628	hsa-miR-1233	CLIP-seq
MIRT889629	hsa-miR-1245	CLIP-seq
MIRT889630	hsa-miR-17	CLIP-seq
MIRT889631	hsa-miR-199a-3p	CLIP-seq
MIRT889632	hsa-miR-199b-3p	CLIP-seq
MIRT889633	hsa-miR-20a	CLIP-seq
MIRT889634	hsa-miR-20b	CLIP-seq
MIRT889635	hsa-miR-302a	CLIP-seq
MIRT889636	hsa-miR-302b	CLIP-seq
MIRT889637	hsa-miR-302c	CLIP-seq
MIRT889638	hsa-miR-302d	CLIP-seq
MIRT889639	hsa-miR-302e	CLIP-seq
MIRT889640	hsa-miR-3129-5p	CLIP-seq
MIRT889641	hsa-miR-3130-3p	CLIP-seq
MIRT889642	hsa-miR-3173-5p	CLIP-seq
MIRT889643	hsa-miR-3177-5p	CLIP-seq
MIRT889644	hsa-miR-3180-5p	CLIP-seq
MIRT889645	hsa-miR-3194-5p	CLIP-seq
MIRT889646	hsa-miR-3199	CLIP-seq
MIRT889647	hsa-miR-3545-3p	CLIP-seq
MIRT889648	hsa-miR-3650	CLIP-seq
MIRT889649	hsa-miR-3670	CLIP-seq
MIRT889650	hsa-miR-372	CLIP-seq
MIRT889651	hsa-miR-373	CLIP-seq
MIRT889652	hsa-miR-3929	CLIP-seq
MIRT889653	hsa-miR-3934	CLIP-seq
MIRT889654	hsa-miR-3972	CLIP-seq
MIRT889655	hsa-miR-3977	CLIP-seq
MIRT889656	hsa-miR-4276	CLIP-seq
MIRT889657	hsa-miR-4324	CLIP-seq
MIRT889658	hsa-miR-4419b	CLIP-seq
MIRT889659	hsa-miR-4478	CLIP-seq
MIRT889660	hsa-miR-4539	CLIP-seq
MIRT889661	hsa-miR-455-5p	CLIP-seq
MIRT889662	hsa-miR-4635	CLIP-seq
MIRT889663	hsa-miR-4680-5p	CLIP-seq
MIRT889664	hsa-miR-4690-3p	CLIP-seq
MIRT889665	hsa-miR-4731-5p	CLIP-seq
MIRT889666	hsa-miR-5095	CLIP-seq
MIRT889667	hsa-miR-512-3p	CLIP-seq
MIRT889668	hsa-miR-519d	CLIP-seq
MIRT889669	hsa-miR-520a-3p	CLIP-seq
MIRT889670	hsa-miR-520a-5p	CLIP-seq
MIRT889671	hsa-miR-520b	CLIP-seq
MIRT889672	hsa-miR-520c-3p	CLIP-seq
MIRT889673	hsa-miR-520d-3p	CLIP-seq
MIRT889674	hsa-miR-520e	CLIP-seq
MIRT889675	hsa-miR-520g	CLIP-seq
MIRT889676	hsa-miR-520h	CLIP-seq
MIRT889677	hsa-miR-525-5p	CLIP-seq
MIRT889678	hsa-miR-544b	CLIP-seq
MIRT889679	hsa-miR-552	CLIP-seq
MIRT889680	hsa-miR-93	CLIP-seq
MIRT889681	hsa-miR-936	CLIP-seq
MIRT889625	hsa-miR-122	CLIP-seq
MIRT889625	hsa-miR-122	CLIP-seq
MIRT1963623	hsa-miR-1276	CLIP-seq
MIRT2199982	hsa-miR-10a	CLIP-seq
MIRT2199983	hsa-miR-10b	CLIP-seq
MIRT889625	hsa-miR-122	CLIP-seq
MIRT2199984	hsa-miR-150	CLIP-seq
MIRT889631	hsa-miR-199a-3p	CLIP-seq
MIRT889632	hsa-miR-199b-3p	CLIP-seq
MIRT2199985	hsa-miR-22	CLIP-seq
MIRT2199986	hsa-miR-24	CLIP-seq
MIRT889640	hsa-miR-3129-5p	CLIP-seq
MIRT889643	hsa-miR-3177-5p	CLIP-seq
MIRT889646	hsa-miR-3199	CLIP-seq
MIRT889647	hsa-miR-3545-3p	CLIP-seq
MIRT2199987	hsa-miR-3620	CLIP-seq
MIRT889648	hsa-miR-3650	CLIP-seq
MIRT2199988	hsa-miR-3663-5p	CLIP-seq
MIRT889653	hsa-miR-3934	CLIP-seq
MIRT2199989	hsa-miR-3944-3p	CLIP-seq
MIRT889655	hsa-miR-3977	CLIP-seq
MIRT2199990	hsa-miR-4258	CLIP-seq
MIRT2199991	hsa-miR-4284	CLIP-seq
MIRT2199992	hsa-miR-4423-5p	CLIP-seq
MIRT889662	hsa-miR-4635	CLIP-seq
MIRT889663	hsa-miR-4680-5p	CLIP-seq
MIRT2199993	hsa-miR-4712-3p	CLIP-seq
MIRT889665	hsa-miR-4731-5p	CLIP-seq
MIRT2199994	hsa-miR-4781-3p	CLIP-seq
MIRT889679	hsa-miR-552	CLIP-seq
MIRT2199995	hsa-miR-562	CLIP-seq
MIRT2199996	hsa-miR-624	CLIP-seq
MIRT889681	hsa-miR-936	CLIP-seq
MIRT2386007	hsa-miR-3130-5p	CLIP-seq
MIRT2386008	hsa-miR-4330	CLIP-seq
MIRT2386009	hsa-miR-4482	CLIP-seq
MIRT2386010	hsa-miR-759	CLIP-seq
MIRT889625	hsa-miR-122	CLIP-seq
MIRT889643	hsa-miR-3177-5p	CLIP-seq
MIRT889646	hsa-miR-3199	CLIP-seq
MIRT2502779	hsa-miR-3606	CLIP-seq
MIRT889648	hsa-miR-3650	CLIP-seq
MIRT889653	hsa-miR-3934	CLIP-seq
MIRT2502780	hsa-miR-4786-3p	CLIP-seq
MIRT2502781	hsa-miR-548aa	CLIP-seq
MIRT889679	hsa-miR-552	CLIP-seq
MIRT2502782	hsa-miR-9	CLIP-seq
MIRT889643	hsa-miR-3177-5p	CLIP-seq
MIRT889648	hsa-miR-3650	CLIP-seq
MIRT889653	hsa-miR-3934	CLIP-seq
MIRT889679	hsa-miR-552	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0008812	Function	Choline dehydrogenase activity	IBA
GO:0008812	Function	Choline dehydrogenase activity	IEA
GO:0008812	Function	Choline dehydrogenase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016614	Function	Oxidoreductase activity, acting on CH-OH group of donors	IEA
GO:0019285	Process	Glycine betaine biosynthetic process from choline	IEA
GO:0042426	Process	Choline catabolic process	TAS
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8NE62
• Protein name: Choline dehydrogenase, mitochondrial (CDH) (CHD) (EC 1.1.99.1)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00732	GMC_oxred_N	41 → 339	GMC oxidoreductase	Domain
  PF05199	GMC_oxred_C	429 → 567	GMC oxidoreductase	Domain

• Sequence:

  MWCLLRGLGRPGALARGALGQQQSLGARALASAGSESRDEYSYVVVGAGSAGCVLAGRLT
  EDPAERVLLLEAGPKDVLAGSKRLSWKIHMPAALVANLCDDRYNWCYHTEVQRGLDGRVL
  YWPRGRVWGGSSSLNAMVYVRGHAEDYERWQRQGARGWDYAHCLPYFRKAQGHELGASRY
  RGADGPLRVSRGKTNHPLHCAFLEATQQAGYPLTEDMNGFQQEGFGWMDMTIHEGKRWSA
  ACAYLHPALSRTNLKAEAETLVSRVLFEGTRAVGVEYVKNGQSHRAYASKEVILSGGAIN
  SPQLLMLSGIGNADDLKKLGIPVVCHLPGVGQNLQDHLEIYIQQACTRPITLHSAQKPLR
  KVCIGLEWLWKFTGEGATAHLETGGFIRSQPGVPHPDIQFHFLPSQVIDHGRVPTQQEAY
  QVHVGPMRGTSVGWLKLRSANPQDHPVIQPNYLSTETDIEDFRLCVKLTREIFAQEALAP
  FRGKELQPGSHIQSDKEIDAFVRAKADSAYHPSCTCKMGQPSDPTAVVDPQTRVLGVENL
  RVVDASIMPSMVSGNLNAPTIMIAEKAADIIKGQPALWDKDVPVYKPRTLATQR

• Sequence length: 594

Pathways

KEGG:

Glycine, serine and threonine metabolism
One carbon pool by folate
Metabolic pathways

Reactome:

Choline catabolism

Associated diseases

Evidence Score:

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

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	35732329	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	25797277		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	25797277		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	26820064		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28007139		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10407490, 18392641, 19814836, 2212795, 26117401, 27694110, 29523555, 30358722, 31114178		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10407490, 16847701, 18392641, 19814836, 2212795, 26117401, 27694110, 29105492, 29523555, 30358722, 31114178		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	30696385		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	30608180		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28321286, 29962935		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	27562178		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	31783354		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	27562178		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17975144, 18230680, 20190683		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18230680	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	27562178		★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	8679447	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16917549	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30025576		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19323787, 24854628, 26117401, 27694110, 28107561, 28799780, 28816530, 29302468, 29318403, 29524110, 29537120, 29976289, 30277799, 30659073, 30845875, 30922395, 30952612, 31070503, 31189389, 31382950, 31748704		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11257276, 17383658, 19944349, 22470539, 23642611, 25465603, 27884729, 28007139, 28077199, 28107561, 28392079, 28744472, 28750699, 29318403, 29457348, 29524110, 29537120, 29644959, 29764693, 29953477, 29976289, 30312930, 30428938, 30518353, 30845875, 30935434, 31070503, 31107195, 31562522, 31748704		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	19323787, 28911506, 31434581		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	26187070		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	BEFREE	28916859		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	22470539		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23727086		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15070440		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30834851		★☆☆☆☆ Found in Text Mining only
Common ventricle	Complete Atrioventricular Canal Defect	BEFREE	28727893		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	24597698		★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	BEFREE	31389092		★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary valve	Congenital Atresia Of Pulmonary Valve	BEFREE	31389092		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12124685, 21395903		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	19459883, 30502292, 30824131, 30898400		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	30898400		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	22426282, 29368431, 29601369, 29663466, 30608180, 30696385		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	23098893, 25076856, 26489877, 27448984, 28185817, 28939700, 29728782, 30025576, 30803288, 30821171, 30862223, 30893567, 31070503		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22470539, 28007139, 28351842, 28911506, 29119450, 30312930, 30595080, 31038380, 31070503, 31327521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conotruncal defect	Conotruncal defect	BEFREE	18055909, 25084529		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10337869, 14642414, 19323787, 19944349, 22470539, 23642611, 25555862, 28185684, 28469241, 28911506, 29523555, 29537120, 30190045, 30370878, 30595080, 30659073, 30845875, 31189389		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10337869, 14642414, 19323787, 19944349, 22470539, 23642611, 25555862, 28185684, 28469241, 28911506, 29523555, 29537120, 30190045, 30595080, 30659073, 30845875, 31189389		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10337869, 10922384, 14642414, 19323787, 19944349, 20511334, 20829508, 21804106, 22470539, 23236363, 23642611, 23727086, 25555862, 25708169, 25797277, 25807483, 26655528, 28185684, 28224467, 28302740, 28911506, 29523555, 29537120, 29555671, 30190045, 30595080, 30659073, 30787070, 30787162, 30803288, 30845875, 30886334, 31189389, 31552105, 31613678, 31818857, 8283932		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29728782		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30450639		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30886334		★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	21308979		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10946794, 16570154, 21638130, 28224925, 28792013, 28848610, 28889241, 29103105, 30229273, 30270089, 30668524, 31114178		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10946794, 16570154, 21638130, 28224925, 28792013, 28848610, 28889241, 29103105, 30229273, 30270089, 30606084, 30608180, 30668524, 31114178		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21208676, 30229273		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21638130, 22515931, 28889241, 30668524, 30787070		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	30608180, 31389092		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27677362, 29127498, 29663466		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	16326224, 30606084		★☆☆☆☆ Found in Text Mining only
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve	BEFREE	31389092		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29962935		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28792013		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28792013		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36588458	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	15784171		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29523555		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	21673957		★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	29698634		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	24133624		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	24133624	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	16276119		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	15784171		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	12647273, 30740319, 31070503, 8014243		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22470539, 28007139, 28351842, 28911506, 29119450, 30312930, 30595080, 31038380, 31070503, 31327521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	BEFREE	10343355, 11730818, 27993383		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	20964105, 21600517, 30270089		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	20031640		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	19501493, 2659186, 29457348, 3873080		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	20964105, 30270089		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	11730818		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19501493, 23098893, 28336112, 30566436, 31489509		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	21308979		★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	29569026		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27448984, 29119450, 30029678, 30893567		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	27587546		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30954376		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29962935		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	39953636	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23642611, 26117401, 30787162, 31562522		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22470539, 29745362		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	8283932		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17695513, 28422868		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17975144, 18230680, 20190683, 28649742		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28792013		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28792013		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25333848, 28096241, 28400267, 29644959, 30834851		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15070440		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17975144, 18230680		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30886334		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	10337869, 12189904, 30185180		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	15451147		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15488875, 15565371, 19944349, 29105492, 29444987, 30670112, 30896328		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30370878		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	30635129		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28649742		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31470861		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12856128, 16570154, 27561896, 27931725, 29302468, 30185180, 30606084, 30971288		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	21673957		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29474406	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30190045		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30982476		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	30982476		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	28007139		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	17021578		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	28392079		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29119450, 30789367		★☆☆☆☆ Found in Text Mining only
Pulmonary Veno-Occlusive Disease (disorder)	Pulmonary venoocclusive disease	BEFREE	27587546		★☆☆☆☆ Found in Text Mining only
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT	Pulmonary venoocclusive disease	BEFREE	27587546		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	30400967		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	30400967		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	29254371		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25084529, 31255657		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	31783354		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33456371	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28792013		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28169308, 35036435, 37608794	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	26489877, 27496870, 28727893, 30212560, 31471763		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	25084529		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	25084529		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	23098893		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	2408002, 28237536		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	29254371		★☆☆☆☆ Found in Text Mining only