PITX2 (paired like homeodomain 2)

Gene

• Entrez ID: 5308
• Gene name: Paired like homeodomain 2
• Gene symbol: PITX2
• Synonyms (NCBI Gene): ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
• Chromosome: 4
• Chromosome location: 4q25
• Summary: This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6533526	G>A	Benign, pathogenic	3 prime UTR variant
rs104893857	A>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs104893858	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs104893859	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893860	C>T	Pathogenic	Stop gained, coding sequence variant
rs104893861	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893862	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121909248	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909249	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs138163892	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs141176394	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906810	T>C	Pathogenic	Coding sequence variant, missense variant
rs772800095	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs1057519483	GTGGACATGTCCGGGTAGCGGT>-	Pathogenic	5 prime UTR variant, coding sequence variant, initiator codon variant, frameshift variant
rs1057519484	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1057519487	GAGCCCGGGACGCCTGTCACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519488	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519489	A>T	Pathogenic	Coding sequence variant, stop gained
rs1198152064	T>C,G	Pathogenic	Intron variant
rs1553922583	T>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1553922891	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553922901	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1560590094	C>G	Pathogenic	Intron variant
rs1578446544	G>C	Pathogenic	Coding sequence variant, stop gained
rs1578450728	A>C	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT555582	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT555581	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT555580	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT555579	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT555577	hsa-miR-4517	PAR-CLIP	21572407
MIRT555578	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT555576	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT555574	hsa-miR-5692b	PAR-CLIP	21572407
MIRT555575	hsa-miR-5692c	PAR-CLIP	21572407
MIRT555573	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT555582	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT555581	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT555580	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT555579	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT555577	hsa-miR-4517	PAR-CLIP	21572407
MIRT555578	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT555576	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT555574	hsa-miR-5692b	PAR-CLIP	21572407
MIRT555575	hsa-miR-5692c	PAR-CLIP	21572407
MIRT555573	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT2069710	hsa-miR-498	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19174163
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	9685346, 12612071
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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	IDA	9685346
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	16449236
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0002074	Process	Extraocular skeletal muscle development	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003171	Process	Atrioventricular valve development	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS
GO:0003350	Process	Pulmonary myocardium development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11301317, 15385555
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	9685346, 12612071, 15466416, 16449236, 19174163, 23088713, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16449236, 19251162
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	15385555
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	11301317
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	15385555, 23975681
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007507	Process	Heart development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0021763	Process	Subthalamic nucleus development	IEA
GO:0021855	Process	Hypothalamus cell migration	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0030324	Process	Lung development	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035315	Process	Hair cell differentiation	IC	19251162
GO:0035886	Process	Vascular associated smooth muscle cell differentiation	IEA
GO:0035993	Process	Deltoid tuberosity development	IEA
GO:0035993	Process	Deltoid tuberosity development	IMP	18312615
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042476	Process	Odontogenesis	IMP	14630904
GO:0042802	Function	Identical protein binding	IPI	12612071
GO:0042803	Function	Protein homodimerization activity	IPI	12612071, 19174163
GO:0043010	Process	Camera-type eye development	IMP	9618168
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	19174163
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9685346, 15466416, 19174163, 19251162
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048536	Process	Spleen development	ISS
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048731	Process	System development	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	19174163
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	IEA
GO:0055015	Process	Ventricular cardiac muscle cell development	IEA
GO:0055123	Process	Digestive system development	IEA
GO:0060126	Process	Somatotropin secreting cell differentiation	TAS	10372733
GO:0060127	Process	Prolactin secreting cell differentiation	TAS	10372733
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060460	Process	Left lung morphogenesis	IEA
GO:0060577	Process	Pulmonary vein morphogenesis	IEA
GO:0060578	Process	Superior vena cava morphogenesis	IEA
GO:0060971	Process	Embryonic heart tube left/right pattern formation	IEA
GO:0060971	Process	Embryonic heart tube left/right pattern formation	ISS
GO:0061031	Process	Endodermal digestive tract morphogenesis	IEA
GO:0061072	Process	Iris morphogenesis	IMP	9437321
GO:0061325	Process	Cell proliferation involved in outflow tract morphogenesis	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9685346, 12612071, 15466416, 16449236
GO:0070986	Process	Left/right axis specification	IEA
GO:0070986	Process	Left/right axis specification	ISS
GO:0140297	Function	DNA-binding transcription factor binding	IPI	16449236
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 601542
• HGNC: 9005
• e!Ensembl: ENSG00000164093

Protein

• UniProt ID: Q99697
• Protein name: Pituitary homeobox 2 (ALL1-responsive protein ARP1) (Homeobox protein PITX2) (Paired-like homeodomain transcription factor 2) (RIEG bicoid-related homeobox transcription factor) (Solurshin)
• Protein function: May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mR
• PDB: 2L7F, 2L7M, 2LKX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	86 → 142	Homeodomain	Domain
  PF03826	OAR	275 → 292	OAR motif	Motif

• Sequence:

  METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGA
  NEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV
  WTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWA
  AKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLN
  SLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQ
  NPASNLSACQYAVDRPV

• Sequence length: 317

Pathways

KEGG:

TGF-beta signaling pathway

Reactome:

TFAP2 (AP-2) family regulates transcription of other transcription factors

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
Anterior segment dysgenesis	Pathogenic; Likely pathogenic	rs121909248, rs104893862, rs1728875550	RCV001200029 RCV001200039 RCV001200027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anterior segment dysgenesis 4	Likely pathogenic; Pathogenic	rs1057519485, rs2110435742, rs951710742, rs1051887, rs2110431524, rs2110432091, rs2476657179, rs2476650016, rs1057519484, rs2476657637, rs1198152064, rs121909248, rs104893861, rs104893862, rs2110435645, rs765382079, rs1553922891, rs1553922583, rs1578446544, rs772800095, rs1578450728, rs1729001104, rs1729007624, rs1729000976, rs1728873590, rs1729003669	RCV001379880 RCV001383407 RCV001989873 RCV001922553 RCV001942226 RCV001956173 RCV003774801 RCV005254053 RCV002651846 RCV002871069 RCV002512913 RCV000008557 RCV000008558 RCV005222673 RCV003807732 RCV003809956 RCV000543429 RCV000560514 RCV000792252 RCV000801898 RCV000820117 RCV001047882 RCV001039241 RCV001217543 RCV001206264 RCV001269467	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE	Pathogenic	rs1553922583	RCV000008559	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	Likely pathogenic; Pathogenic	rs2476650016	RCV002291347	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Axenfeld-Rieger syndrome type 1	Likely pathogenic; Pathogenic	rs1057519485, rs2110435742, rs2110435639, rs2110435882, rs951710742, rs1051887, rs2110431524, rs2110432091, rs2529773540, rs2476657335, rs2476657179, rs2476657038, rs2476656626, rs2476651963, rs2476650732, rs2476650692, rs2476649405, rs2529773117, rs2529773099, rs121909249, rs2476658161, rs2476658147, rs2476658099, rs2529773071, rs2529772680, rs2476658214, rs1057519484, rs2476657637, rs104893857, rs1560590094, rs104893858, rs1198152064, rs104893859, rs104893860, rs2529773041, rs104893862, rs2110435645, rs765382079, rs1057519489, rs1057519488, rs1057519487, rs1057519483, rs387906810, rs1553922891, rs1553922583, rs1578446544, rs772800095, rs1578450728, rs1728998905, rs1729001104, rs1729007624, rs1729000976, rs1728873590	RCV001379880 RCV001383407 RCV001542747 RCV001825120 RCV001989873 RCV001922553 RCV001942226 RCV001956173 RCV002293556 RCV002293557 RCV002293558 RCV002293559 RCV002293560 RCV002293561 RCV002293562 RCV002293563 RCV002293564 RCV002293565 RCV002293566 RCV002293567 RCV002293568 RCV002293569 RCV002293570 RCV002293571 RCV002293581 RCV002293591 RCV002651846 RCV002871069 RCV000008551 RCV000008552 RCV000008553 RCV000008554 RCV000008555 RCV000008556 RCV000008560 RCV000008561 RCV002293409 RCV003807732 RCV003809956 RCV000416518 RCV000416496 RCV000416543 RCV000416516 RCV000416527 RCV000023116 RCV000543429 RCV000560514 RCV000792252 RCV000801898 RCV000820117 RCV001090057 RCV001047882 RCV001039241 RCV001217543 RCV001206264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PITX2-related disorder	Likely pathogenic	rs2529773049	RCV003394439	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rieger anomaly	Pathogenic	rs1553922901	RCV000584539	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ring dermoid of cornea	Likely pathogenic; Pathogenic	rs104893862	RCV000008562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANIRIDIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior segment dysgenesis 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION	—	Disgenet	★★☆☆☆ 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 FIBRILLATION, FAMILIAL 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation, familial, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AXENFELD ANOMALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Axenfeld-Rieger syndrome	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AXENFELD-RIEGER SYNDROME, TYPE 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ATRIAL FIBRILLATION	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL SICK SINUS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of the iris	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IRIDOGONIODYSGENESIS, DOMINANT TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRIDOGONIODYSGENESIS, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PITX2-Related Eye Abnormalities	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIEGER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE 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	CTD_human_DG	29531354		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	9539779		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27798672		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31043858		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	21116117, 24722208, 25735981		★☆☆☆☆ Found in Text Mining only
AL-RAQAD SYNDROME	AL-Raqad Syndrome	BEFREE	10420192, 10958652, 11487566, 11929847, 15751970, 16274491, 16389592, 16498627, 16834779, 17134502, 17167399, 18723525, 19052653, 20881290, 22569110, 23239455, 23975681, 24003428, 24390743, 25893250, 27009473, 28226328, 28972279, 29100920, 30017604, 31341655, 31529555, 9618168		★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	35882526	Associate	★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	21617748, 28549150, 29901133, 30457409, 31341655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	Pubtator	21617748, 27124303	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia cerebellar ataxia mental deficiency	Aniridia-cerebellar ataxia-intellectual disability syndrome	Pubtator	27124303	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	23549991, 35882526, 36017684, 38157055	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	37337632	Associate	★☆☆☆☆ Found in Text Mining only
ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE	Anterior Pituitary Dysgenesis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANTERIOR SEGMENT DYSGENESIS 5	Anterior segment dysgenesis	GENOMICS_ENGLAND_DG	11487566		★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	22569110	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior segment mesenchymal dysgenesis	Anterior segment dysgenesis	BEFREE	9620774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior synechiae	Synechiae	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26263491		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26263491		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	28596592, 30392061		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	28596592, 30392061	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	24582607, 32233023	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	36868229	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29871944		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29871944		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	20022124, 20457925, 21282332, 21427120, 21511879, 21846873, 22336519, 22726630, 22776031, 23428961, 23838598, 23953978, 24161141, 24395921, 24465984, 24486271, 24582607, 24910551, 24927531, 25391453, 25494715, 25684755, 25888893, 26073630, 26272656, 27582060, 27765191, 27866707, 28217939, 28381281, 28427903, 28677534, 28900195, 29034898, 29194452, 29624624, 29800783, 30143541, 30353147, 30558760, 30586722, 31039368, 31169720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	21846873, 22726630, 22776031, 23428961, 24161141, 24486271, 24582607, 24910551, 26272656, 26631084, 26783232, 28381281, 28596592, 28677534, 28900195, 29034898, 29624624, 29800783, 29915175, 30061737, 30558760, 30760287, 31599812, 33583820, 33875748, 34833481, 35086918, 35471998, 36260954, 36732468, 36763906, 36856594, 37495323, 38164777	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	24333117		★☆☆☆☆ Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atrial Flutter	Atrial flutter	Pubtator	35994481	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	14985297, 20881294, 22569110, 22919265, 28911203, 30457409		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	14985297, 20881294, 22569110, 22919265, 28911203, 30457409		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	21511879		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	16835440, 25893250		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	14985297, 20881294, 22569110, 22919265, 28911203, 30457409		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	32499604	Associate	★☆☆☆☆ Found in Text Mining only
Axenfeld anomaly (disorder)	Axenfeld anomaly	BEFREE	11092457, 16876867, 21617748		★☆☆☆☆ Found in Text Mining only
Axenfeld anomaly (disorder)	Axenfeld anomaly	ORPHANET_DG	19513095, 24433355		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	10051017, 10420192, 10490637, 10498698, 10502778, 10532715, 10537763, 10644443, 10937553, 11092457, 11157981, 11301317, 11487566, 11821690, 11929847, 12381896, 14630904, 14991915, 15255117, 15378534, 15751970, 15895993, 16389592, 16449236, 16498627, 16834779, 17134502, 17167399, 17850355, 18331556, 18723525, 19052653, 19218601, 19513095, 20881290, 20978111, 21810944, 22303467, 24003428, 24390743, 25893250, 27009473, 28226328, 28513611, 29121437, 29664915, 29774977, 30017604, 30286078, 30653210, 31185933, 31341655, 31529555, 9437321, 9685346		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Axenfeld-Rieger syndrome	Axenfeld anomaly	ORPHANET_DG	19513095		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Axenfeld-Rieger syndrome	Axenfeld anomaly	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Axenfeld-Rieger syndrome	Axenfeld anomaly	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Axenfeld-Rieger Syndrome, Type 1	Axenfeld anomaly	CTD_human_DG	10502778, 10644443, 14623826, 14630904, 15378534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Axenfeld-Rieger Syndrome, Type 1	Axenfeld anomaly	UNIPROT_DG	10937553, 11487566, 12381896, 16936096, 8944018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Axenfeld-Rieger Syndrome, Type 1	Axenfeld anomaly	GENOMICS_ENGLAND_DG	11487566, 8944018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Axenfeld-Rieger Syndrome, Type 1	Axenfeld anomaly	BEFREE	14623826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Axenfeld-Rieger Syndrome, Type 1	Axenfeld anomaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	27798672		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	27798672	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28586118		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17965955, 18711169, 19118060, 19153192, 21221769, 21868547, 26400846, 28700487, 29328369, 30025446, 30191949, 30442983		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18628976, 19153192, 20304943, 21167036, 25339043, 26400846, 26510686, 29328369, 30025446, 30442983, 34663249	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21698121	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25339043	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	25339043	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	29060924	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35592706, 35765089, 35865652	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	18628976	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28586118		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21044322, 26298390		★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	22306652, 23041239, 23042660, 26708676, 26935894, 27469034, 28939865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	30061737, 32233023	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19175357, 29702036		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	32295643	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cataract	Cataract	BEFREE	9620774		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cataract	Cataract	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Central Nervous System Diseases	Central nervous system disease	Pubtator	36791193	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37686257	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	25250569		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	22306652, 22776031, 23041239, 26089329, 26631084, 26708676, 30760287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	29531354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	35994481	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	8782080		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	24738728	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28736108		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	37322958	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21479692, 26817719, 27470214, 29580650		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29986714, 34372865	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22569110	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	18723525, 22303467, 29506241		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	10499585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hemihypertrophy	Congenital Hemihypertrophy	BEFREE	11471152		★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	BEFREE	15378534		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12176127, 23962825, 24595098, 30586722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conjunctival dermolipoma	Conjunctival dermolipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30742940		★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	BEFREE	17558846		★☆☆☆☆ Found in Text Mining only
Corneal guttata	Corneal guttata	BEFREE	29506241		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30586722		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30586722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	25893250, 26657035, 29800783, 30586722		★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	BEFREE	10532715		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	25494715		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29871944		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	10958652, 16498627, 22303467, 30017604		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34566401	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25085843		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	LHGDN	12732450		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	15728856		★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	33231930	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	30025446	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28697377		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35899307	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	15912477, 33781219	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	33231930	Associate	★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibromatosis, Aggressive	Fibromatosis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only
Fish-Eye Disease	Fish-Eye Disease	BEFREE	16876867		★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	16876867, 23110055		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	23110055	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	BEFREE	26817719		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	LHGDN	11774072, 17065505		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	12381896, 12766061, 14985297, 17065505, 17167399, 17197537, 21617755, 22919265, 27520585, 28513611, 28911203, 29939776		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	17167399, 28513611, 30653210, 30657791, 32606567, 35354164	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	26220699, 28513611, 30657791	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	BEFREE	10180507, 10937553, 28911203		★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	28513611	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	28513611		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28226328		★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	10372733		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	30061737	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35471998	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12176127, 23962825, 24595098, 30586722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	BEFREE	11471152		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	28381281	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	10180507, 10937553, 28911203, 30657791		★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18370232, 19175357, 21778436, 25150869, 29194452, 29871944		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29194452		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	14630904		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	BEFREE	10937553, 11929847, 14985297, 9437321		★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the pituitary gland	Hypoplasia Of The Pituitary Gland	BEFREE	16389592		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35830366	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23925294		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28736108		★☆☆☆☆ Found in Text Mining only
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	10937553, 11487566, 14985297, 16449236, 22303467, 22919265, 28911203, 30457409		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	10051017		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	ORPHANET_DG	10051017		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
IRIDOGONIODYSGENESIS, TYPE 2	Anterior segment dysgenesis	UNIPROT_DG	10051017, 20881294, 9437321, 9618168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRIDOGONIODYSGENESIS, TYPE 2	Anterior segment dysgenesis	BEFREE	10420192, 10958652, 9618168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRIDOGONIODYSGENESIS, TYPE 2	Anterior segment dysgenesis	GENOMICS_ENGLAND_DG	11487566, 8944018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRIDOGONIODYSGENESIS, TYPE 2	Anterior segment dysgenesis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRIDOGONIODYSGENESIS, TYPE 2	Anterior segment dysgenesis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic Attack Transient	Transient ischemic attack	Pubtator	26631084	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26089329		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	26631084	Associate	★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jaw Abnormalities	Jaw Abnormalities	BEFREE	22303467		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18775701		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11313277	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	1321332, 18202802, 29423069		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1321332		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30516882, 39595659	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17965955, 18711169, 19118060, 19153192, 21221769, 21868547, 26400846, 28700487, 29328369, 30025446, 30191949, 30442983		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21044322, 26298390		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19233404, 20304943, 20478579, 21116117, 21803613, 22495974, 23266319, 24162257, 24938434, 27173224, 27708246, 27939865, 30608394		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	20372070		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19559677, 28586118		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15375002, 18202802, 19559677, 20372070, 23250740, 23354914, 26293348, 26298390, 26510686, 27270438, 27445341, 29042285, 29328369, 29580650, 31636120		★☆☆☆☆ Found in Text Mining only
Malocclusion	Malocclusion	Pubtator	29103441	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17965955, 18711169		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	29986714		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	11471152		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29871944		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	24162257		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	20534514		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26976208, 30701025, 31213901, 9454907		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35008743	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	23505501		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29641992		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28298639		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10372733, 17965955, 18711169, 19233404, 20478579, 21803613, 27173224, 27798672, 28617833, 28950950, 29199015, 29952421, 29986714, 30742940, 31043858		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28697377, 31636120		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29042285		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30903445		★☆☆☆☆ Found in Text Mining only
Nodular fasciitis	Nodular Fasciitis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21698121, 31695428		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	33231930	Associate	★☆☆☆☆ Found in Text Mining only
Odontome	Odontome	CTD_human_DG	10499585		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	14630904		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	32548603	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	26298390	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21044322, 22615897, 26298390		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23250740, 24253043	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26298390	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37337632	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	18296909		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24002705		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28697377		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	24582607		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	30903445		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	28742208, 32224525	Associate	★☆☆☆☆ Found in Text Mining only
Polycoria	Polycoria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	25494715		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	10372733		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19233404, 20304943, 20478579, 21116117, 21803613, 22495974, 23266319, 24162257, 24938434, 27173224, 27708246, 27939865, 30608394		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	27939865		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	21116117		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16787920, 19229700, 20304943, 23266319, 24938434, 27173224, 27708246, 27708722, 27939865	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	24162257		★☆☆☆☆ Found in Text Mining only
Proteus Syndrome	Proteus Syndrome	BEFREE	11471152		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22829758	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	31735076		★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30742940		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21373746, 31735076		★☆☆☆☆ Found in Text Mining only
Rieger eye malformation sequence	Axenfeld anomaly	BEFREE	11092457		★☆☆☆☆ Found in Text Mining only
Rieger eye malformation sequence	Axenfeld anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	BEFREE	10051017, 10490637, 10498698, 10502778, 10532715, 10537763, 10644443, 10937553, 11092457, 11157981, 11301317, 11821690, 12381896, 14630904, 14991915, 15378534, 15895993, 17850355, 21810944, 29774977, 9437321, 9685346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rieger syndrome	Rieger syndrome	ORPHANET_DG	19513095, 24433355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rieger syndrome	Rieger syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rieger syndrome	Rieger syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RING DERMOID OF CORNEA	Ring Dermoid Of Cornea	GENOMICS_ENGLAND_DG	11487566		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RING DERMOID OF CORNEA	Ring Dermoid Of Cornea	UNIPROT_DG	15591271, 22224469		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RING DERMOID OF CORNEA	Ring Dermoid Of Cornea	ORPHANET_DG	15591271		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ring dermoid of cornea	Ring Dermoid Of Cornea	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ring dermoid of cornea	Ring dermoid of cornea	Pubtator	21052876, 22224469	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RING DERMOID OF CORNEA	Ring Dermoid Of Cornea	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RING DERMOID OF CORNEA	Ring Dermoid Of Cornea	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	BEFREE	18262772, 26263491, 29871944		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	24582607, 33580673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	24395921		★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	BEFREE	18296909		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	BEFREE	20603325		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23132660, 27407092		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20627871, 27716615, 28617833	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20627871, 27716615, 28617833		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	22776031, 30760287, 34727735, 34990849	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subcapsular cataract	Subcapsular cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	29103441		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	26657035, 29100920		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	20372070		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	20372070		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	15890066		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	18331556		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29328369		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29328369	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28351298	Associate	★☆☆☆☆ Found in Text Mining only