GATA4 (GATA binding protein 4)

Gene

• Entrez ID: 2626
• Gene name: GATA binding protein 4
• Gene symbol: GATA4
• Synonyms (NCBI Gene): ASD2, TACHD, TOF, VSD1
• Chromosome: 8
• Chromosome location: 8p23.1
• Summary: This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs745379	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs804280	C>A,G,T	Pathogenic, uncertain-significance	Intron variant
rs3729851	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs3729856	A>G	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs3735819	T>C,G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs10503425	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs12156163	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs56208331	G>A,T	Benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs56298569	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894073	G>A,C,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894074	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs113049875	G>A,C,T	Pathogenic	Intron variant
rs115099192	C>A,G	Uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant
rs115372595	C>T	Likely-benign, benign, pathogenic	Missense variant, coding sequence variant
rs116052854	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs146017816	C>G,T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs147860174	G>A	Pathogenic, uncertain-significance	Intron variant
rs368489876	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906769	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs387906770	C>A,T	Pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant, synonymous variant, intron variant
rs387906771	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs387906772	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs398122402	G>A	Pathogenic	Coding sequence variant, missense variant
rs864321698	C>A,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs864321699	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs864321700	A>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs864321701	A>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs864321702	T>A	Pathogenic	Coding sequence variant, missense variant
rs864321703	C>A	Pathogenic	Intron variant, synonymous variant, coding sequence variant
rs864321704	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs864321705	T>G	Pathogenic	Splice donor variant
rs1182566703	CGCCGC>-,CGC,CGCCGCCGC	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion, inframe insertion, intron variant
rs1282433424	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1405855570	A>G	Likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs1554498312	T>C	Pathogenic	Intron variant
rs1554498708	G>A	Pathogenic	Intron variant
rs1585684790	G>C	Pathogenic	Coding sequence variant, missense variant
rs1585703301	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585706802	CTC>TG	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000393	hsa-miR-1-3p	Luciferase reporter assay	19188439
MIRT004008	hsa-miR-200b-3p	Microarray	17875710
MIRT006808	hsa-miR-26b-5p	Immunocytochemistry, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	22219180
MIRT047394	hsa-miR-34a-5p	CLASH	23622248
MIRT004008	hsa-miR-200b-3p	Flow, qRT-PCR, Western blot	23558708
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT735854	hsa-miR-200a-3p	qRT-PCR, ELISA	32691634
MIRT1012684	hsa-miR-1289	CLIP-seq
MIRT1012685	hsa-miR-1298	CLIP-seq
MIRT1012686	hsa-miR-15a	CLIP-seq
MIRT1012687	hsa-miR-15b	CLIP-seq
MIRT1012688	hsa-miR-16	CLIP-seq
MIRT1012689	hsa-miR-1909	CLIP-seq
MIRT1012690	hsa-miR-195	CLIP-seq
MIRT1012691	hsa-miR-3125	CLIP-seq
MIRT1012692	hsa-miR-3135b	CLIP-seq
MIRT1012693	hsa-miR-3181	CLIP-seq
MIRT1012694	hsa-miR-3198	CLIP-seq
MIRT1012695	hsa-miR-338-3p	CLIP-seq
MIRT1012696	hsa-miR-3652	CLIP-seq
MIRT1012697	hsa-miR-3670	CLIP-seq
MIRT1012698	hsa-miR-3916	CLIP-seq
MIRT1012699	hsa-miR-3944-3p	CLIP-seq
MIRT1012700	hsa-miR-424	CLIP-seq
MIRT1012701	hsa-miR-4251	CLIP-seq
MIRT1012702	hsa-miR-4294	CLIP-seq
MIRT1012703	hsa-miR-4309	CLIP-seq
MIRT1012704	hsa-miR-4430	CLIP-seq
MIRT1012705	hsa-miR-4463	CLIP-seq
MIRT1012706	hsa-miR-4468	CLIP-seq
MIRT1012707	hsa-miR-4476	CLIP-seq
MIRT1012708	hsa-miR-4492	CLIP-seq
MIRT1012709	hsa-miR-4494	CLIP-seq
MIRT1012710	hsa-miR-4498	CLIP-seq
MIRT1012711	hsa-miR-4530	CLIP-seq
MIRT1012712	hsa-miR-4533	CLIP-seq
MIRT1012713	hsa-miR-4688	CLIP-seq
MIRT1012714	hsa-miR-4711-5p	CLIP-seq
MIRT1012715	hsa-miR-4750	CLIP-seq
MIRT1012716	hsa-miR-486-3p	CLIP-seq
MIRT1012717	hsa-miR-497	CLIP-seq
MIRT1012718	hsa-miR-539	CLIP-seq
MIRT1012719	hsa-miR-583	CLIP-seq
MIRT1012720	hsa-miR-615-5p	CLIP-seq
MIRT1012721	hsa-miR-659	CLIP-seq
MIRT1012722	hsa-miR-762	CLIP-seq
MIRT1012723	hsa-miR-766	CLIP-seq
MIRT1012724	hsa-miR-892b	CLIP-seq
MIRT1012725	hsa-miR-922	CLIP-seq
MIRT1999940	hsa-miR-1470	CLIP-seq
MIRT1999941	hsa-miR-1538	CLIP-seq
MIRT1999942	hsa-miR-3918	CLIP-seq
MIRT1999943	hsa-miR-4256	CLIP-seq
MIRT1999944	hsa-miR-4290	CLIP-seq
MIRT1999945	hsa-miR-4745-3p	CLIP-seq
MIRT1999946	hsa-miR-4769-3p	CLIP-seq
MIRT1999947	hsa-miR-4779	CLIP-seq
MIRT1999948	hsa-miR-604	CLIP-seq
MIRT1999949	hsa-miR-647	CLIP-seq
MIRT2233366	hsa-miR-122	CLIP-seq
MIRT1012684	hsa-miR-1289	CLIP-seq
MIRT2233367	hsa-miR-1290	CLIP-seq
MIRT2233368	hsa-miR-1324	CLIP-seq
MIRT2233369	hsa-miR-200b	CLIP-seq
MIRT2233370	hsa-miR-200c	CLIP-seq
MIRT2233371	hsa-miR-208a	CLIP-seq
MIRT2233372	hsa-miR-208b	CLIP-seq
MIRT2233373	hsa-miR-2467-3p	CLIP-seq
MIRT2233374	hsa-miR-3159	CLIP-seq
MIRT2233375	hsa-miR-3166	CLIP-seq
MIRT2233376	hsa-miR-3175	CLIP-seq
MIRT2233377	hsa-miR-3180-5p	CLIP-seq
MIRT2233378	hsa-miR-3184	CLIP-seq
MIRT1012694	hsa-miR-3198	CLIP-seq
MIRT2233379	hsa-miR-3617	CLIP-seq
MIRT2233380	hsa-miR-423-5p	CLIP-seq
MIRT2233381	hsa-miR-4266	CLIP-seq
MIRT2233382	hsa-miR-429	CLIP-seq
MIRT1012702	hsa-miR-4294	CLIP-seq
MIRT1012703	hsa-miR-4309	CLIP-seq
MIRT1012706	hsa-miR-4468	CLIP-seq
MIRT2233383	hsa-miR-4514	CLIP-seq
MIRT2233384	hsa-miR-4645-5p	CLIP-seq
MIRT2233385	hsa-miR-4673	CLIP-seq
MIRT2233386	hsa-miR-4692	CLIP-seq
MIRT2233387	hsa-miR-4695-5p	CLIP-seq
MIRT1999947	hsa-miR-4779	CLIP-seq
MIRT2233388	hsa-miR-499-5p	CLIP-seq
MIRT2233389	hsa-miR-5096	CLIP-seq
MIRT2233390	hsa-miR-641	CLIP-seq
MIRT2233391	hsa-miR-765	CLIP-seq
MIRT2388369	hsa-miR-365	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HAND2	Unknown	11994297
HEY1	Repression	16199874
HEY2	Repression	16199874
MYC	Activation	23239811
NANOG	Repression	15983365
NKX2-5	Activation	19479054

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	9566909
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IGI	21330551
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	21220346
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001216	Function	DNA-binding transcription activator activity	IDA	29325903
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	21220346
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IGI	21330551
GO:0001947	Process	Heart looping	ISS
GO:0003162	Process	Atrioventricular node development	NAS	26786210
GO:0003180	Process	Aortic valve morphogenesis	IMP	29325903
GO:0003190	Process	Atrioventricular valve formation	ISS
GO:0003197	Process	Endocardial cushion development	IMP	21330551
GO:0003197	Process	Endocardial cushion development	ISS
GO:0003208	Process	Cardiac ventricle morphogenesis	TAS	20347099
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003281	Process	Ventricular septum development	ISS
GO:0003289	Process	Atrial septum primum morphogenesis	ISS
GO:0003290	Process	Atrial septum secundum morphogenesis	IMP	20347099
GO:0003677	Function	DNA binding	IDA	24000169
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9312027
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	9312027, 10075728, 12845333, 15485867, 16199874, 17053787, 21220346, 24000169, 35182466
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21220346
GO:0005634	Component	Nucleus	IDA	9566909, 24000169
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	12845333
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007492	Process	Endoderm development	TAS	20347099
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0008584	Process	Male gonad development	IMP	21220346
GO:0009410	Process	Response to xenobiotic stimulus	IMP	20585342
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009888	Process	Tissue development	IEA
GO:0010507	Process	Negative regulation of autophagy	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	ISS
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0019901	Function	Protein kinase binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0035054	Process	Embryonic heart tube anterior/posterior pattern specification	ISS
GO:0036302	Process	Atrioventricular canal development	NAS	26786210
GO:0042060	Process	Wound healing	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045165	Process	Cell fate commitment	IBA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	24000169
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21330551, 29325903
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	12845333
GO:0046872	Function	Metal ion binding	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	ISS
GO:0051525	Function	NFAT protein binding	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0060290	Process	Transdifferentiation	IEA
GO:0060413	Process	Atrial septum morphogenesis	IMP	12845333
GO:0060575	Process	Intestinal epithelial cell differentiation	IDA	9566909
GO:0061026	Process	Cardiac muscle tissue regeneration	ISS
GO:0061049	Process	Cell growth involved in cardiac muscle cell development	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9858576, 21330551
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0070410	Function	Co-SMAD binding	IPI	21330551
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	9312027
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	ISS

Other IDs

• MIM: 600576
• HGNC: 4173
• e!Ensembl: ENSG00000136574

Protein

• UniProt ID: P43694
• Protein name: Transcription factor GATA-4 (GATA-binding factor 4)
• Protein function: Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724, PubMed:35182466). In cooperation with TBX5, it binds to cardiac super-enhance
• PDB: 2M9W, 8VG0, 8VG1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05349	GATA-N	1 → 205	GATA-type transcription activator, N-terminal	Family
  PF00320	GATA	217 → 251	GATA zinc finger	Domain
  PF00320	GATA	271 → 305	GATA zinc finger	Domain

• Sequence:

  MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAG
  SASGGASGGSSGGAASGAGPGTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAA
  AAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSSPYPAYMADVGASWAAAAAAS
  AGPFDSPVLHSLPGRANPAARHPNLDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNA
  CGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMK
  LHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEE
  MRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVLSALKLSPQGYASPVSQSPQT
  SSKQDSWNSLVLADSHGDIITA

• Sequence length: 442

Pathways

KEGG:

cGMP-PKG signaling pathway
Cellular senescence
Tight junction
Thyroid hormone signaling pathway

Reactome:

YAP1- and WWTR1 (TAZ)-stimulated gene expression
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
Physiological factors
Factors involved in megakaryocyte development and platelet production

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
46,XY sex reversal 3	Pathogenic	rs1585684790	RCV001007692	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial septal defect 2	Likely pathogenic; Pathogenic	rs180765750, rs2130307055, rs1799991762, rs2486974873, rs104894073, rs1585703301, rs104894074, rs2486974458, rs2486975103	RCV001330680 RCV001823084 RCV005863608 RCV002471849 RCV000009596 RCV000009597 RCV000009598 RCV005055401 RCV003991307 RCV000023001	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrioventricular septal defect 4	Likely pathogenic; Pathogenic	rs180765750, rs1799991762, rs2130313407, rs2130068999, rs2130313276, rs104894073, rs2486781068, rs2486996437, rs2486966933, rs2486975023, rs1249347695, rs368489876	RCV002546407 RCV001907365 RCV001970824 RCV002007586 RCV001963090 RCV001949586 RCV005089220 RCV003528971 RCV003529790 RCV003643689 RCV003643821 RCV003824086 RCV001242926	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital heart disease	Pathogenic	rs864321698, rs864321703, rs864321700, rs864321701, rs864321702, rs864321705, rs864321704, rs1554498312	RCV000203585 RCV000203605 RCV000203602 RCV000203586 RCV000203594 RCV000203595 RCV000203588 RCV000498769	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GATA4-related dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs104894073	RCV005867737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GATA4-related disorder	Likely pathogenic; Pathogenic	rs180765750	RCV004035700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Testicular anomalies with or without congenital heart disease	Likely pathogenic; Pathogenic	rs180765750, rs2486974458, rs398122402	RCV003147617 RCV003333589 RCV000074426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Transposition of the great arteries	Likely pathogenic; Pathogenic	rs104894073	RCV001775066	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular septal defect 1	Pathogenic	rs2130307055, rs1799991762, rs104894073	RCV001823084 RCV005863608 RCV000023011	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46,XY PARTIAL GONADAL DYSGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Achondroplasia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR SEPTAL DEFECT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 8, MONOSOMY 8P23 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR CANAL DEFECT WITH VENTRICULAR HYPOPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT WITH TETRALOGY OF FALLOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT WITH VENTRICULAR HYPOPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT-TETRALOGY OF FALLOT	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF PULMONARY VALVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECTS, VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
METABOLIC SYNDROME	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL DIABETES MELLITUS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal insulin-dependent diabetes mellitus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL ATRIOVENTRICULAR CANAL DEFECT WITH VENTRICULAR HYPOPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL ATRIOVENTRICULAR SEPTAL DEFECT WITH VENTRICULAR HYPOPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERMANENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary valve atresia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonic stenosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal cysts and diabetes syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Structural congenital heart disease, multiple types - GATA4	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thoracic aortic aneurysm	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSITORY NEONATAL DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF GREAT VESSELS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tricuspid regurgitation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICUSPID VALVE INSUFFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR REMODELING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YORIFUJI OKUNO SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	ORPHANET_DG	21220346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
8p23.1 microdeletion syndrome	8p23.1 microdeletion syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28849107		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10728696, 14581353, 22472323, 28052061		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	16823849		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23239811		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	15666845, 28977799		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	10449810		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	10449810		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	10449810		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28849107		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10662802		★☆☆☆☆ Found in Text Mining only
Adult Type Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	24687970		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30541888		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29415147		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	29415147	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29415147		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	21839733		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	27707468, 33413087	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30809744		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	21464220		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	37372326	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30809744		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	20363377, 21708142, 21874226, 22552926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	30061737	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	21708142, 21874226, 22552926		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defect 1	Atrial septal defect	Pubtator	17592645	Associate	★☆☆☆☆ Found in Text Mining only
Atrial septal defect 2	Atrial Septal Defect	UNIPROT_DG	12845333, 15810002, 17643447, 18055909, 20347099, 20659440, 27984724		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial septal defect 2	Atrial Septal Defect	GENOMICS_ENGLAND_DG	18055909		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial septal defect 2	Atrial Septal Defect	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial septal defect 2	Atrial Septal Defect	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial septal defect, ostium secundum type	Atrial Septal Defect	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	BEFREE	14557051, 15810002, 17255809, 19915893, 20347099, 20659440, 21373748, 21673957, 24498650, 24866383, 25099673, 25873328, 25928801, 26376067, 28259982, 29377543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	LHGDN	15235040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	BEFREE	15810002		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	26376067, 26490186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR SEPTAL DEFECT 4	Atrioventricular septal defect	CLINVAR_DG	12845333, 15235040		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATRIOVENTRICULAR SEPTAL DEFECT 4	Atrioventricular septal defect	UNIPROT_DG	17643447		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATRIOVENTRICULAR SEPTAL DEFECT 4	Atrioventricular septal defect	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29850516		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29850516		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	32859868	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28349834, 28849107, 29403560, 31210286		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	33547361	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	29325903, 29653232, 30229885, 30720060		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	28541271, 32748548, 39240962	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26625313		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	24367640	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	22363514	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11016753, 19276186, 24862985, 30187949, 30542490		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19276186, 22362584, 24862985, 28747748	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	27707468	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	30542490		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17912029, 20222162, 23320456	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10942535, 15666845, 20222162		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	24862985	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	24145767	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34583732	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	24862985	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26625313		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29565449, 30971692		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24145767	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	19918328	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36961416	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28241454		★☆☆☆☆ Found in Text Mining only
Cardiac Conduction System Disease	Cardiac conduction disease	Pubtator	36070930	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	11251999, 19084512, 20854389, 21933911, 22723016, 23696316, 29590644		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	17284439, 35173540, 37219631, 38296564	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	17643447, 24366163, 25017055, 27984724		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	27984724	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20388650	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	24041700, 25725155, 28690296, 36346048	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	17284439, 35173540, 37219631	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	24041700, 25017055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20388650, 24041700, 24366163, 25017055, 25725155, 26376067, 26581070, 28690296, 28902616, 30217752, 30536204		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	38049901	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24330461, 24681789		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24330461, 24681789	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21673957		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28849107		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	26490736		★☆☆☆☆ Found in Text Mining only
Chromosome 8 monosomy 8p23 1	Chromosome 8p23.1 monosomy	Pubtator	20592452	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome 8, monosomy 8p23 1	Monosomy 8p23 1	ORPHANET_DG	10090897, 19606479		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	24973415		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16823849		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14612389, 19509152		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	19509152		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	14612389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14612389, 17167178, 19053175, 22719836, 38092774	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	19509152		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete atrioventricular septal defect with ventricular hypoplasia	Complete Atrioventricular Septal Defect With Ventricular Hypoplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete atrioventricular septal defect-tetralogy of Fallot	Complete Atrioventricular Septal Defect-Tetralogy Of Fallot	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	BEFREE	20807224		★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary valve	Congenital Atresia Of Pulmonary Valve	BEFREE	20807224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	18263670, 19853750, 22723016, 23138528, 23165927, 23696316		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CTD_human_DG	23426975		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	12845333, 16077733, 18393291, 20592452, 20854389, 20874241, 21110066, 21276881, 21834050, 21933911, 22589735, 23696316, 23745586, 24696446, 25873328, 29377543, 30061737, 30152191, 31322241, 31513339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	10096597, 15249177, 17253934, 17352393, 17592645, 17643447, 18055909, 18672102, 19302747, 20592452, 20631719, 21110066, 21631294, 21990232, 22589735, 22885181, 22959235, 23626780, 23745586, 24041700, 25873328, 25928801, 26376067, 27118528, 27118988, 27154817, 27391137, 27984717, 28167794, 28471988, 28843068, 29111206, 30121862, 30305954, 30590232, 30834692, 31115957, 31322241, 9742568		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital heart disease	Congenital Heart Disease	CLINVAR_DG	27426723		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	CTD_human_DG	23426975		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Morgagni	Morgagni diaphragmatic hernia	CTD_human_DG	23426975		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	19853750		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12502568, 15012912, 17284439, 22363514, 27208796, 31520462		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	24127225	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	18055909		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24330461, 24681789		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24330461, 24681789	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10908216, 17253934, 17255809, 17352393, 17592645, 17643447, 18337497, 18672102, 19302747, 20592452, 20631719, 20874241, 21110066, 21276881, 21519287, 21631294, 21933911, 21990232, 22011241, 22500510, 22885181, 23345203, 23583740, 23626780, 23979609, 24115316, 25524324, 25928801, 26036351, 26097203, 26376067, 26676105, 27391137, 27426723, 28167794, 28372585, 28471988, 28553164, 28646505, 28843068, 29104469, 29222010, 29377543, 29468350, 30121862, 30152191, 30590232, 31115957, 31322241, 31513339		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	11061558		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	27899089	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30944169		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24696446, 29138836		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24696446, 29138836		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24696446, 38408297	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33865372	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24284823		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24330461		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	31962012	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	21220346, 31962012, 35432193	Associate	★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	30834692	Associate	★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	31120883		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	25587870, 9556043		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25587870	Associate	★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	27418595	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve	BEFREE	21815254		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24651021		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36588538	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	24041700, 24366163		★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	24041700, 36346048	Associate	★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	21673957		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	22472323		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	14612389	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	12867597		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23320456, 31006040		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23320456, 37372326	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21464220, 23320456, 31006040		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27598297, 35845958	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26490186		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	26526145		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	LHGDN	16159935		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	18653721, 24416423		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	17592645, 18055909, 20592452, 22011241, 22318994, 23626780, 23979609, 24041700, 24696446, 25205790, 25587870, 26014430, 26865696, 27118528, 27391137, 27984717, 28263493, 28336264, 28553164, 29104469, 29952356, 30061737, 30834692, 31115957, 31322241, 33413087, 34088018, 35697867, 36205932, 37635136, 38049901, 40430071	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	17253934, 17352393, 17592645, 18672102		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	17284439, 20592452, 23626780, 25929466, 26014430, 29590644, 36070930, 37635136, 38049901, 40290305	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	17643447, 19494035, 22923619, 26946174		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12502568, 15012912, 17284439, 22363514, 27208796, 31520462		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	17284439, 22363514, 35173540, 35418170	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	12845333, 17352393, 17643447, 18055909, 19084512, 19915893, 20592452, 21276881, 21839733, 27064867, 29377543, 30152191		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	18055909, 20592452, 27984724, 28263493, 40430071	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	18055909, 20347099, 27418595, 33413087, 40430071	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	18055909, 22648249, 33757570, 40430071	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	30229885		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	34583732	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	21788913, 27788486, 28349834, 30074440		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	28349834, 30074440	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	31120883		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	21154739		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22581158		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29138836		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24330461	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	24330461, 31520462		★☆☆☆☆ Found in Text Mining only
HYPERTRICHOSIS, CONGENITAL GENERALIZED	HYPERTRICHOSIS	BEFREE	11061558		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	17284439, 35173540, 38296564	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias, perineal	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	26490736		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	32859868	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27477082	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20592452	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	17495229		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	21834050		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26490736		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26490736	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26490736		★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	11061558		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28758902, 30995348		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21788913		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15585625		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18332107, 29565449, 32138766	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	22043484		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11016753, 19276186, 22362584, 24862985, 30187949, 30542490		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24651021		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27788486, 28758902		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29565449, 30971692		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	30542490		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11304571, 28241454		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17912029, 19918328, 30142155		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22472323, 23765259, 24317510, 29456712		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26625313		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16823849, 17912029, 18405344, 19707195, 22472323, 24089524, 26490736		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16823849		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19276186		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19137261		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19223509, 21081840	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	32810829	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24330461		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	24330461	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	20592452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	20592452	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	20200331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	24330461	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	26457413, 29545582, 29899566, 30802510, 31090492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28440427		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	35751644	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30542490		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	20854389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG	24696446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	10449810, 10999851, 11304571, 14581353, 15666845, 1676908, 17207921, 17337116, 17761949, 17912029, 19509152, 19918328, 21464220, 21788913, 23320456, 24687970, 26490736, 27585489, 28977799, 30142155, 30187949, 30400009, 30542490, 30971692, 30995348, 31405379		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19707195		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19707195	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15541816, 23239811		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	24862985		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	33549576	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24330461		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24330461	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29590644		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29590644	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	ORPHANET_DG	12845333, 15810002, 20347099		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	21673957		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	24145767	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian gonadoblastoma	Ovarian gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	24687970		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16607277, 28241454		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11304571, 16110260, 16607277, 23746174, 24145767, 24416423, 24687970, 28241454, 32886452, 37284741	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35488350	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17912029, 19918328, 30142155		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	19918328		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17912029		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17912029, 24696446, 30142155	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19918328	Stimulate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Partial atrioventricular canal	Partial atrioventricular canal defect	ORPHANET_DG	12845333, 17643447, 18672102		★☆☆☆☆ Found in Text Mining only
Partial atrioventricular canal	Partial atrioventricular canal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Partial defect of atrioventricular canal	Partial Defect Of Atrioventricular Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30834692		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Perimembranous ventricular septal defect	Ventricular septal defect	BEFREE	21110066		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35491409	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	BEFREE	10449810		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	21262361, 28068351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28068351	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	BEFREE	15810002, 17253934, 22589735, 24498650		★☆☆☆☆ Found in Text Mining only
Pulmonary Venous Return Anomaly	Pulmonary Venous Return Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	28093677		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	22419069	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29717129		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	29670578		★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	15383419		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16823849		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31405379	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24089524		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22472323, 23765259, 24317510, 29456712		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	14612389		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14612389, 17229543, 20222162	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	21673957	Associate	★☆☆☆☆ Found in Text Mining only
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	GENOMICS_ENGLAND_DG	21220346		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	UNIPROT_DG	21220346		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Testicular Diseases	Testicular disease	Pubtator	21220346	Associate	★☆☆☆☆ Found in Text Mining only
Testicular dysgenesis	Testicular dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASCAT_DG	28604728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular gonadoblastoma	Testicular gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	16470721, 19302747, 19818949, 20592452, 21110066, 21519287, 22043484, 23403794, 24000169, 24182332, 25832314, 25916634, 25928801, 26376067, 26490186, 27942761, 28553164, 29045289, 29762087, 30152191		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	LHGDN	16470721		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	18055909, 20592452, 24182332, 28553164, 30766556	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	UNIPROT_DG	18672102, 21110066, 24000169		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	ORPHANET_DG	24000169		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition of the great arteries	Pubtator	37635136	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	20807224, 31120883		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	30690934	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36263185	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	36459980	Associate	★☆☆☆☆ Found in Text Mining only
VENTRICULAR SEPTAL DEFECT 1	Ventricular septal defect	UNIPROT_DG	18672102, 21110066, 21637914, 22101736		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VENTRICULAR SEPTAL DEFECT 1	Ventricular septal defect	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VENTRICULAR SEPTAL DEFECT 1	Ventricular septal defect	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular Septal Defects	Ventricular septal defect	BEFREE	17253934, 19302747, 19915893, 20659440, 21637914, 21839733, 21933911, 22101736, 22500510, 22589735, 22648249, 22959235, 23745586, 25524324, 25928801, 26376067, 27426723, 28471988, 29377543, 30061196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX males	XX Males	BEFREE	17986281		★☆☆☆☆ Found in Text Mining only