PCYT1A (phosphate cytidylyltransferase 1A, choline)

Gene

• Entrez ID: 5130
• Gene name: Phosphate cytidylyltransferase 1A, choline
• Gene symbol: PCYT1A
• Synonyms (NCBI Gene): CCTA, CCTalpha, CGL5, CT, CTA, CTPCT, PCYT1, SMDCRD
• Chromosome: 3
• Chromosome location: 3q29
• Summary: This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs540053239	C>G,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs587777189	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777190	G>C	Pathogenic	Missense variant, coding sequence variant
rs587777191	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777192	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs587777193	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs587777194	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs587777195	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777196	->C	Pathogenic	Coding sequence variant, frameshift variant
rs762145853	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765196598	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518600	->CT	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032475	hsa-let-7b-5p	Proteomics	18668040
MIRT050150	hsa-miR-26a-5p	CLASH	23622248
MIRT719105	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT719104	hsa-miR-520h	HITS-CLIP	19536157
MIRT719103	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT719102	hsa-miR-622	HITS-CLIP	19536157
MIRT719101	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT719100	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT719099	hsa-miR-4264	HITS-CLIP	19536157
MIRT719098	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT719097	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT719096	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT719095	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT551731	hsa-miR-6890-5p	PAR-CLIP	21572407
MIRT551730	hsa-miR-3155a	PAR-CLIP	21572407
MIRT551729	hsa-miR-3155b	PAR-CLIP	21572407
MIRT551728	hsa-miR-484	PAR-CLIP	21572407
MIRT551727	hsa-miR-1273f	PAR-CLIP	21572407
MIRT551726	hsa-miR-193b-5p	PAR-CLIP	21572407
MIRT551725	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT551724	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT551723	hsa-miR-197-3p	PAR-CLIP	21572407
MIRT551722	hsa-miR-3170	PAR-CLIP	21572407
MIRT551721	hsa-miR-6855-5p	PAR-CLIP	21572407
MIRT551720	hsa-miR-5587-5p	PAR-CLIP	21572407
MIRT551719	hsa-miR-5096	PAR-CLIP	21572407
MIRT460196	hsa-miR-1321	PAR-CLIP	23592263
MIRT460195	hsa-miR-4739	PAR-CLIP	23592263
MIRT460194	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT460193	hsa-miR-5681a	PAR-CLIP	23592263
MIRT460192	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT460191	hsa-miR-7154-3p	PAR-CLIP	23592263
MIRT460190	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT460189	hsa-miR-1302	PAR-CLIP	23592263
MIRT460188	hsa-miR-4298	PAR-CLIP	23592263
MIRT460187	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT719105	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT719104	hsa-miR-520h	HITS-CLIP	19536157
MIRT719103	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT719102	hsa-miR-622	HITS-CLIP	19536157
MIRT719101	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT719100	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT719099	hsa-miR-4264	HITS-CLIP	19536157
MIRT719098	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT719097	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT719096	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT719095	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT551731	hsa-miR-6890-5p	PAR-CLIP	21572407
MIRT551730	hsa-miR-3155a	PAR-CLIP	21572407
MIRT551729	hsa-miR-3155b	PAR-CLIP	21572407
MIRT551728	hsa-miR-484	PAR-CLIP	21572407
MIRT551727	hsa-miR-1273f	PAR-CLIP	21572407
MIRT551726	hsa-miR-193b-5p	PAR-CLIP	21572407
MIRT551725	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT551724	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT551723	hsa-miR-197-3p	PAR-CLIP	21572407
MIRT551722	hsa-miR-3170	PAR-CLIP	21572407
MIRT551721	hsa-miR-6855-5p	PAR-CLIP	21572407
MIRT551720	hsa-miR-5587-5p	PAR-CLIP	21572407
MIRT551719	hsa-miR-5096	PAR-CLIP	21572407
MIRT460196	hsa-miR-1321	PAR-CLIP	23592263
MIRT460195	hsa-miR-4739	PAR-CLIP	23592263
MIRT460194	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT460193	hsa-miR-5681a	PAR-CLIP	23592263
MIRT460192	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT460191	hsa-miR-7154-3p	PAR-CLIP	23592263
MIRT460190	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT460189	hsa-miR-1302	PAR-CLIP	23592263
MIRT460188	hsa-miR-4298	PAR-CLIP	23592263
MIRT460187	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT1218833	hsa-miR-1275	CLIP-seq
MIRT1218834	hsa-miR-129-3p	CLIP-seq
MIRT1218835	hsa-miR-18a	CLIP-seq
MIRT1218836	hsa-miR-18b	CLIP-seq
MIRT1218837	hsa-miR-2278	CLIP-seq
MIRT1218838	hsa-miR-2355-5p	CLIP-seq
MIRT1218839	hsa-miR-2467-3p	CLIP-seq
MIRT1218840	hsa-miR-3121-5p	CLIP-seq
MIRT1218841	hsa-miR-3124-3p	CLIP-seq
MIRT1218842	hsa-miR-3147	CLIP-seq
MIRT1218843	hsa-miR-3189-3p	CLIP-seq
MIRT1218844	hsa-miR-3591-5p	CLIP-seq
MIRT1218845	hsa-miR-3674	CLIP-seq
MIRT1218846	hsa-miR-3678-3p	CLIP-seq
MIRT1218847	hsa-miR-3679-3p	CLIP-seq
MIRT1218848	hsa-miR-4255	CLIP-seq
MIRT1218849	hsa-miR-4263	CLIP-seq
MIRT1218850	hsa-miR-4425	CLIP-seq
MIRT1218851	hsa-miR-4464	CLIP-seq
MIRT1218852	hsa-miR-4521	CLIP-seq
MIRT1218853	hsa-miR-4665-5p	CLIP-seq
MIRT1218854	hsa-miR-4690-5p	CLIP-seq
MIRT1218855	hsa-miR-4694-3p	CLIP-seq
MIRT1218856	hsa-miR-4735-3p	CLIP-seq
MIRT1218857	hsa-miR-4748	CLIP-seq
MIRT1218858	hsa-miR-4778-3p	CLIP-seq
MIRT1218859	hsa-miR-4803	CLIP-seq
MIRT1218860	hsa-miR-494	CLIP-seq
MIRT1218861	hsa-miR-511	CLIP-seq
MIRT1218862	hsa-miR-522	CLIP-seq
MIRT1218863	hsa-miR-615-5p	CLIP-seq
MIRT2063319	hsa-miR-1286	CLIP-seq
MIRT2063320	hsa-miR-1910	CLIP-seq
MIRT1218838	hsa-miR-2355-5p	CLIP-seq
MIRT2063321	hsa-miR-2964a-5p	CLIP-seq
MIRT1218840	hsa-miR-3121-5p	CLIP-seq
MIRT1218841	hsa-miR-3124-3p	CLIP-seq
MIRT1218844	hsa-miR-3591-5p	CLIP-seq
MIRT2063322	hsa-miR-361-3p	CLIP-seq
MIRT2063323	hsa-miR-3614-5p	CLIP-seq
MIRT1218845	hsa-miR-3674	CLIP-seq
MIRT1218847	hsa-miR-3679-3p	CLIP-seq
MIRT2063324	hsa-miR-3940-5p	CLIP-seq
MIRT1218848	hsa-miR-4255	CLIP-seq
MIRT2063325	hsa-miR-4436a	CLIP-seq
MIRT2063326	hsa-miR-4438	CLIP-seq
MIRT1218851	hsa-miR-4464	CLIP-seq
MIRT2063327	hsa-miR-4507	CLIP-seq
MIRT2063328	hsa-miR-4687-3p	CLIP-seq
MIRT2063329	hsa-miR-4722-5p	CLIP-seq
MIRT1218857	hsa-miR-4748	CLIP-seq
MIRT1218858	hsa-miR-4778-3p	CLIP-seq
MIRT1218861	hsa-miR-511	CLIP-seq
MIRT2063330	hsa-miR-668	CLIP-seq
MIRT2063319	hsa-miR-1286	CLIP-seq
MIRT1218841	hsa-miR-3124-3p	CLIP-seq
MIRT2063324	hsa-miR-3940-5p	CLIP-seq
MIRT2063325	hsa-miR-4436a	CLIP-seq
MIRT2063326	hsa-miR-4438	CLIP-seq
MIRT2063327	hsa-miR-4507	CLIP-seq
MIRT2063328	hsa-miR-4687-3p	CLIP-seq
MIRT2063329	hsa-miR-4722-5p	CLIP-seq
MIRT1218844	hsa-miR-3591-5p	CLIP-seq
MIRT1218851	hsa-miR-4464	CLIP-seq
MIRT1218857	hsa-miR-4748	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ZNF143	Activation	14702349
ZNF76	Activation	14702349

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004105	Function	Choline-phosphate cytidylyltransferase activity	IBA
GO:0004105	Function	Choline-phosphate cytidylyltransferase activity	IDA	10480912
GO:0004105	Function	Choline-phosphate cytidylyltransferase activity	IEA
GO:0004105	Function	Choline-phosphate cytidylyltransferase activity	ISS
GO:0004105	Function	Choline-phosphate cytidylyltransferase activity	TAS	7918629
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IDA	10480912
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	10480912
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10480912
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	10480912
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	ISS
GO:0006657	Process	CDP-choline pathway	IDA	10480912
GO:0006657	Process	CDP-choline pathway	IEA
GO:0006657	Process	CDP-choline pathway	ISS
GO:0008289	Function	Lipid binding	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0031210	Function	Phosphatidylcholine binding	IBA
GO:0031210	Function	Phosphatidylcholine binding	IEA
GO:0042100	Process	B cell proliferation	IEA
GO:0042100	Process	B cell proliferation	ISS
GO:0042587	Component	Glycogen granule	IEA
GO:0042587	Component	Glycogen granule	ISS
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0045190	Process	Isotype switching	IEA
GO:0045190	Process	Isotype switching	ISS
GO:0046470	Process	Phosphatidylcholine metabolic process	IEA
GO:0090407	Process	Organophosphate biosynthetic process	IEA
GO:0140678	Function	Molecular function inhibitor activity	IEA

Other IDs

• MIM: 123695
• HGNC: 8754
• e!Ensembl: ENSG00000161217

Protein

• UniProt ID: P49585
• Protein name: Choline-phosphate cytidylyltransferase A (EC 2.7.7.15) (CCT-alpha) (CTP:phosphocholine cytidylyltransferase A) (CCT A) (CT A) (Phosphorylcholine transferase A)
• Protein function: Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01467	CTP_transf_like	80 → 208	Cytidylyltransferase-like	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain, placenta, liver, fetal and adult lung. {ECO:0000269|PubMed:10480912}.
• Sequence:

  MDAQCSAKVNARKRRKEAPGPNGATEEDGVPSKVQRCAVGLRQPAPFSDEIEVDFSKPYV
  RVTMEEASRGTPCERPVRVYADGIFDLFHSGHARALMQAKNLFPNTYLIVGVCSDELTHN
  FKGFTVMNENERYDAVQHCRYVDEVVRNAPWTLTPEFLAEHRIDFVAHDDIPYSSAGSDD
  VYKHIKEAGMFAPTQRTEGISTSDIITRIVRDYDVYARRNLQRGYTAKELNVSFINEKKY
  HLQERVDKVKKKVKDVEEKSKEFVQKVEEKSIDLIQKWEEKSREFIGSFLEMFGPEGALK
  HMLKEGKGRMLQAISPKQSPSSSPTRERSPSPSFRWPFSGKTSPPCSPANLSRHKAAAYD
  ISEDEED

• Sequence length: 367

Pathways

KEGG:

Phosphonate and phosphinate metabolism
Glycerophospholipid metabolism
Metabolic pathways
Choline metabolism in cancer

Reactome:

Synthesis of PC

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
Lipodystrophy, congenital generalized, type 5	Pathogenic	rs1398190721	RCV003493360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Pathogenic; Likely pathogenic	rs1724289595, rs1285004802, rs587777189, rs587777190, rs587777191, rs540053239, rs587777194, rs587777195, rs2474015361	RCV001335225 RCV005860224 RCV000087314 RCV000087315 RCV000087316 RCV000087319 RCV000087320 RCV000087321 RCV003140446	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL GENERALIZED LIPODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PCYT1A-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	BEFREE	29674417		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	28361156, 28506470, 28918858		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	30115754		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	18377306		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	31303642		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29752224		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29752224		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	28437714		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	14522424, 28216357, 31250171		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	28062934		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	31089848		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atlantoaxial instability	Atlantoaxial abnormality	BEFREE	29724649		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30691863		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	29897667		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29897667		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	1730641		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29897667		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29475387		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	17296563		★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	29122926	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	29122926		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18377306		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30050773		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24692084	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29702969		★☆☆☆☆ Found in Text Mining only
Cardiac Tamponade	Cardiac Tamponade	BEFREE	27989537		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	29747948		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	28057413		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	31772042		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31793395		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27651144, 28495950, 28530158, 28744414, 28864601, 29449280, 29909185, 30014785		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	18377306		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30286109		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30601084		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	31801774		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	29724649		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29803496, 30218252		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30218252, 31343781		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	28963470		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	30112264		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	30368896		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	31558499		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28407768, 28754436, 28916411, 29322167, 29433968, 30224034, 30366860, 30745132, 31302028, 31570324		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27085447, 27693027, 28194728, 28329376, 28407768, 28549614, 28699019, 28754436, 28916411, 28940026, 29195843, 29322167, 29486988, 30366860, 30745132, 31570324, 31596324		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24534453, 28194728, 28407768, 28916411, 29322167, 29327115, 30366860, 30745132, 31570324		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	28394783, 28916411, 28988831, 31696294		★☆☆☆☆ Found in Text Mining only
Cyclical vomiting syndrome (disorder)	Cyclical Vomiting Syndrome	BEFREE	30088111		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24889630, 31724966		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24889630, 31724966		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26781905, 8721778		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28686226		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29885016		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	30593199		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	31471687		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	28710184		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	16003736		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	16003736		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	29122926	Associate	★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	28272537		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty liver	Pubtator	28272537	Associate	★☆☆☆☆ Found in Text Mining only
Fibroatheroma	Fibroatheroma	BEFREE	28918858		★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	27854110, 31454065		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	11342977		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23592437		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23592437		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	29992164		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	31553233		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	BEFREE	28288528		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	17296563		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28454490		★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	28454490		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27480438		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28744414, 30287460, 31037787, 31699886		★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial Thrombosis	BEFREE	30573458		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	15466353		★☆☆☆☆ Found in Text Mining only
Intussusception	Intussusception	BEFREE	30142859		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27651144, 28126753, 28302611, 28798219, 29674417, 30573458, 30679214, 31196858, 31352585, 31494013, 31806593		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	30299237		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	30093402		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30679214		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	28272537		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20381863, 23292864		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	28272537	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	30559292		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16546222, 17786367, 18377306, 20731022, 24040354		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23171216	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31413263	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	28686226	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	16003736		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30050773		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29702969		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29063133		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22583965		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	15672408, 20082319, 23959473, 29598829, 30764732		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15026371, 20082319, 28455266, 31208979, 31343781		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	31413263		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29803496, 30218252		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	18377306		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18377306		★☆☆☆☆ Found in Text Mining only
Mesenteric vascular insufficiency	Mesenteric Vascular Insufficiency	BEFREE	28986677		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29062686		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24889268		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	20381863		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17296563		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	31801774		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27541353, 27838131, 30060671		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29433968, 30224034, 31302028		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1663450, 20082319, 24516257, 28288528, 28415557, 28686226, 30299237, 9853954		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30289176		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	29855589	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	23255072		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28415557		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29702969		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29063133		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	27925342		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	29218656, 31202523		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	29486988		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22583965		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	27834959		★☆☆☆☆ Found in Text Mining only
Pulsatile Tinnitus	Pulsatile Tinnitus	BEFREE	29417173		★☆☆☆☆ Found in Text Mining only
Rachischisis	Rachischisis	CTD_human_DG	17184542		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	28272537, 30559292		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20980283		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23487197		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	31652157		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	29724649		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	17184542		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	CTD_human_DG	17184542		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 8	Spinocerebellar Ataxia	BEFREE	10958651, 15823478		★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	29603831		★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	UNIPROT_DG	24387990, 24387991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	ORPHANET_DG	24387990, 24387991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	GENOMICS_ENGLAND_DG	24387990, 24889630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	BEFREE	24387991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma	Carcinoma	BEFREE	17066423, 31413263		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24692084	Associate	★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28980409		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	28918858		★☆☆☆☆ Found in Text Mining only
Status Dysraphicus	Status Dysraphicus	CTD_human_DG	17184542		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34504059	Associate	★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	BEFREE	28272537		★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	27522573		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29475387	Associate	★☆☆☆☆ Found in Text Mining only