TBX1 (T-box transcription factor 1)

Gene

• Entrez ID: 6899
• Gene name: T-box transcription factor 1
• Gene symbol: TBX1
• Synonyms (NCBI Gene): CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino aci

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939675	T>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs74315522	C>G	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs144848597	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs753613632	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs766608075	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs886042049	->CGAT	Pathogenic	Inframe indel, stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1057518168	->GCCCAGTCCCCCGAACCCCG	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1425319851	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1445910672	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs1466435688	C>G,T	Likely-pathogenic	Synonymous variant, intron variant, coding sequence variant, stop gained
rs1555895466	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1555896474	A>G	Pathogenic	Splice acceptor variant
rs1555896814	CC>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555896828	->GGCTACCACCCGCACGCGCATC	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1569022780	G>A	Pathogenic	Coding sequence variant, stop gained
rs1601294188	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1601294362	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041674	hsa-miR-484	CLASH	23622248
MIRT037556	hsa-miR-744-5p	CLASH	23622248
MIRT035924	hsa-miR-1180-3p	CLASH	23622248
MIRT1415060	hsa-miR-1279	CLIP-seq
MIRT1415061	hsa-miR-3673	CLIP-seq
MIRT1415062	hsa-miR-4699-3p	CLIP-seq
MIRT1415063	hsa-miR-4724-5p	CLIP-seq
MIRT2124536	hsa-miR-144	CLIP-seq
MIRT2346779	hsa-miR-103b	CLIP-seq
MIRT2346780	hsa-miR-1184	CLIP-seq
MIRT2346781	hsa-miR-122	CLIP-seq
MIRT2346782	hsa-miR-1245	CLIP-seq
MIRT2346783	hsa-miR-1976	CLIP-seq
MIRT2346784	hsa-miR-21	CLIP-seq
MIRT2346785	hsa-miR-217	CLIP-seq
MIRT2346786	hsa-miR-3135b	CLIP-seq
MIRT2346787	hsa-miR-3622b-5p	CLIP-seq
MIRT2346788	hsa-miR-3652	CLIP-seq
MIRT2346789	hsa-miR-3664-5p	CLIP-seq
MIRT2346790	hsa-miR-4418	CLIP-seq
MIRT2346791	hsa-miR-4430	CLIP-seq
MIRT2346792	hsa-miR-4447	CLIP-seq
MIRT2346793	hsa-miR-4472	CLIP-seq
MIRT2346794	hsa-miR-4639-3p	CLIP-seq
MIRT2346795	hsa-miR-4722-3p	CLIP-seq
MIRT2346796	hsa-miR-4740-3p	CLIP-seq
MIRT2346797	hsa-miR-509-3-5p	CLIP-seq
MIRT2346798	hsa-miR-509-5p	CLIP-seq
MIRT2346799	hsa-miR-590-5p	CLIP-seq
MIRT2124536	hsa-miR-144	CLIP-seq
MIRT2395563	hsa-miR-1292	CLIP-seq
MIRT2395564	hsa-miR-4471	CLIP-seq
MIRT2395565	hsa-miR-4646-5p	CLIP-seq
MIRT2395566	hsa-miR-661	CLIP-seq
MIRT2346781	hsa-miR-122	CLIP-seq
MIRT2346786	hsa-miR-3135b	CLIP-seq
MIRT2346788	hsa-miR-3652	CLIP-seq
MIRT2346789	hsa-miR-3664-5p	CLIP-seq
MIRT2346791	hsa-miR-4430	CLIP-seq
MIRT2346792	hsa-miR-4447	CLIP-seq
MIRT2346793	hsa-miR-4472	CLIP-seq
MIRT2346794	hsa-miR-4639-3p	CLIP-seq
MIRT2346779	hsa-miR-103b	CLIP-seq
MIRT2346781	hsa-miR-122	CLIP-seq
MIRT2639410	hsa-miR-15a	CLIP-seq
MIRT2639411	hsa-miR-15b	CLIP-seq
MIRT2639412	hsa-miR-16	CLIP-seq
MIRT2639413	hsa-miR-195	CLIP-seq
MIRT2346784	hsa-miR-21	CLIP-seq
MIRT2346786	hsa-miR-3135b	CLIP-seq
MIRT2639414	hsa-miR-331-3p	CLIP-seq
MIRT2346787	hsa-miR-3622b-5p	CLIP-seq
MIRT2346788	hsa-miR-3652	CLIP-seq
MIRT2639415	hsa-miR-424	CLIP-seq
MIRT2346791	hsa-miR-4430	CLIP-seq
MIRT2346795	hsa-miR-4722-3p	CLIP-seq
MIRT2639416	hsa-miR-497	CLIP-seq
MIRT2346799	hsa-miR-590-5p	CLIP-seq
MIRT2346779	hsa-miR-103b	CLIP-seq
MIRT2346781	hsa-miR-122	CLIP-seq
MIRT2639410	hsa-miR-15a	CLIP-seq
MIRT2639411	hsa-miR-15b	CLIP-seq
MIRT2639412	hsa-miR-16	CLIP-seq
MIRT2639413	hsa-miR-195	CLIP-seq
MIRT2346784	hsa-miR-21	CLIP-seq
MIRT2346786	hsa-miR-3135b	CLIP-seq
MIRT2639414	hsa-miR-331-3p	CLIP-seq
MIRT2346787	hsa-miR-3622b-5p	CLIP-seq
MIRT2346788	hsa-miR-3652	CLIP-seq
MIRT2639415	hsa-miR-424	CLIP-seq
MIRT2346791	hsa-miR-4430	CLIP-seq
MIRT2346795	hsa-miR-4722-3p	CLIP-seq
MIRT2639416	hsa-miR-497	CLIP-seq
MIRT2346799	hsa-miR-590-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
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	IEA
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	ISA
GO:0001525	Process	Angiogenesis	ISS
GO:0001568	Process	Blood vessel development	ISS
GO:0001708	Process	Cell fate specification	IBA
GO:0001708	Process	Cell fate specification	ISS
GO:0001755	Process	Neural crest cell migration	ISS
GO:0001934	Process	Positive regulation of protein phosphorylation	ISS
GO:0001945	Process	Lymph vessel development	ISS
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	ISS
GO:0003007	Process	Heart morphogenesis	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003677	Function	DNA binding	IDA	17273972
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11111039
GO:0005515	Function	Protein binding	IPI	30241482, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
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	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	9268629
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007389	Process	Pattern specification process	ISS
GO:0007498	Process	Mesoderm development	ISS
GO:0007507	Process	Heart development	IMP	14585638
GO:0007517	Process	Muscle organ development	ISS
GO:0007605	Process	Sensory perception of sound	ISS
GO:0008283	Process	Cell population proliferation	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009952	Process	Anterior/posterior pattern specification	ISS
GO:0021644	Process	Vagus nerve morphogenesis	ISS
GO:0030855	Process	Epithelial cell differentiation	ISS
GO:0030878	Process	Thyroid gland development	ISS
GO:0035019	Process	Somatic stem cell population maintenance	ISS
GO:0035176	Process	Social behavior	ISS
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0042471	Process	Ear morphogenesis	ISS
GO:0042472	Process	Inner ear morphogenesis	ISS
GO:0042473	Process	Outer ear morphogenesis	ISS
GO:0042474	Process	Middle ear morphogenesis	ISS
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0042693	Process	Muscle cell fate commitment	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	11111039, 22095455
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	11111039, 22095455
GO:0043587	Process	Tongue morphogenesis	ISS
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	ISS
GO:0045596	Process	Negative regulation of cell differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17273972
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	ISS
GO:0046983	Function	Protein dimerization activity	TAS	17273972
GO:0048384	Process	Retinoic acid receptor signaling pathway	ISS
GO:0048514	Process	Blood vessel morphogenesis	ISS
GO:0048538	Process	Thymus development	IMP	14585638
GO:0048644	Process	Muscle organ morphogenesis	ISS
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	ISS
GO:0048703	Process	Embryonic viscerocranium morphogenesis	IMP	14585638
GO:0048752	Process	Semicircular canal morphogenesis	ISS
GO:0048844	Process	Artery morphogenesis	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0060017	Process	Parathyroid gland development	IMP	14585638
GO:0060023	Process	Soft palate development	IMP	14585638
GO:0060037	Process	Pharyngeal system development	IMP	14585638
GO:0060325	Process	Face morphogenesis	ISS
GO:0060415	Process	Muscle tissue morphogenesis	ISS
GO:0060982	Process	Coronary artery morphogenesis	ISS
GO:0070166	Process	Enamel mineralization	ISS
GO:0071300	Process	Cellular response to retinoic acid	ISS
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0097152	Process	Mesenchymal cell apoptotic process	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000027	Process	Regulation of animal organ morphogenesis	ISS
GO:2001037	Process	Positive regulation of tongue muscle cell differentiation	ISS
GO:2001054	Process	Negative regulation of mesenchymal cell apoptotic process	ISS

Other IDs

• MIM: 602054
• HGNC: 11592
• e!Ensembl: ENSG00000184058

Protein

• UniProt ID: O43435
• Protein name: T-box transcription factor TBX1 (T-box protein 1) (Testis-specific T-box protein)
• Protein function: Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2
• PDB: 4A04
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00907	T-box	112 → 297	T-box	Domain

• Sequence:

  MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA
  PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW
  DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL
  VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR
  FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP
  EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVE
  LLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC

• Sequence length: 398

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
Conotruncal anomaly face syndrome	Pathogenic	rs28939675, rs1601294362	RCV001815165 RCV001815166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DiGeorge syndrome	Pathogenic; Likely pathogenic	rs1936852915, rs2145838229, rs2145835194, rs1936845711, rs2145827929, rs1731409120, rs2145827917, rs2145836457, rs2517841942, rs1321457390, rs2517843174, rs2474263656, rs2517855397, rs2517855328, rs776268518, rs2517842289, rs1601280018, rs1252544416, rs1555895466, rs1936640897, rs1936634853, rs1936727304	RCV001332793 RCV001383639 RCV001908785 RCV001992593 RCV001866498 RCV002000474 RCV001880954 RCV001944034 RCV002722019 RCV003063975 RCV003148069 RCV003507775 RCV003507899 RCV003620608 RCV003621257 RCV003619191 RCV003620404 RCV003620449 RCV004555178 RCV000630482 RCV001220575 RCV001247640 RCV001249619	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KBG syndrome	Pathogenic	rs1936760837	RCV001261282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TBX1-related disorder	Likely pathogenic; Pathogenic	rs1731409120, rs2517852372	RCV004782842 RCV003907094	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Likely pathogenic	rs2517843174, rs1936727304	RCV003148068 RCV001249619	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Velocardiofacial syndrome	Pathogenic; Likely pathogenic	rs2145827917, rs2517858941, rs74315522, rs2517843174, rs1252544416, rs1936727304	RCV003234130 RCV000008002 RCV000008003 RCV003148070 RCV004555178 RCV001249619	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
22Q11.2 DELETION SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22Q11.2 DUPLICATION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 22Q11.2 MICRODUPLICATION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO TBX1 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON ARTERIAL TRUNK WITH AORTIC DOMINANCE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON ARTERIAL TRUNK WITH PULMONARY DOMINANCE AND INTERRUPTED AORTIC ARCH	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL CARDIAC DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conotruncal heart malformations	Uncertain significance; Conflicting classifications of pathogenicity; not provided	ClinVar CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic left heart syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHPRINTZEN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q11 Deletion Syndrome	22q11 deletion syndrome	BEFREE	11811651, 12175881, 16684884, 17622328, 17850965, 19247433, 21177346, 22801995, 9268629		★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	ORPHANET_DG	14585638		★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	17028864	Inhibit	★☆☆☆☆ Found in Text Mining only
22q11 partial monosomy syndrome	22q11 partial monosomy syndrome	BEFREE	11811651		★☆☆☆☆ Found in Text Mining only
22q11 partial monosomy syndrome	22q11 partial monosomy syndrome	ORPHANET_DG	14585638		★☆☆☆☆ Found in Text Mining only
22q11.2 deletion syndrome	22q11.2 deletion syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22q11.2 duplication syndrome	22q11.2 duplication syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
3C syndrome	3C syndrome	BEFREE	8870617		★☆☆☆☆ Found in Text Mining only
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	17298169, 21811099		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23456319		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	22931165, 24504414		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28920943		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	7479776		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	23956173		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31591186		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	27825814, 29297368		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	BEFREE	31632985		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	17622328, 21796729	Associate	★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	BEFREE	9134630		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	7479776		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16021473		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	ORPHANET_DG	14585638		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	23427188		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	21057957		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21908517, 25325218		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	16684884		★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	11757720, 3006832		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	19407855, 24232574		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	24232574	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22399187, 24815864, 27580659, 28621227, 29399164, 31713604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24815864, 27702820, 28621227, 33734319, 34919666	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
C9 Deficiency	C9 Deficiency	BEFREE	10083734		★☆☆☆☆ Found in Text Mining only
Camptodactyly 1	Camptodactyly	Pubtator	28920943	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22595058, 28920943, 29774202		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	24504414, 30453543	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	39929118	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22611028, 23456319, 25683840, 25744730, 28122267		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21102418	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	26099010	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22611028	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30209892		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac defects	Cardiac Defects	BEFREE	30933971, 8696341, 9063746, 9099830, 9216164		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	11811651		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	23828768, 24637876	Associate	★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	11039583, 11350118, 16915592, 18033723, 20060941, 30799418		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Caudal Regression Syndrome	Caudal regression sequence	BEFREE	24253444		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	17286799		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30371262		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	18820665	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	16538613, 16604512, 19407855, 21057957, 21394718, 21699479, 22002331, 22283186, 22847733, 22952146, 23097005, 23662285, 23814489, 24086644, 24232574, 24445144, 25053104, 25193090, 27635948, 27663388, 28498973, 28753115, 28835717, 29020634, 29026114, 29237806, 29360338, 29560513, 29636883, 30664779, 31221659, 31240525, 31504814, 31819479		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	18641983, 18820665, 19801981, 20670140, 21102418, 21602918, 23814489, 24086644, 24232574, 24445144, 24452533, 26099010, 26099340, 26339396, 27172898, 27663388, 28094431, 28515451, 28835717, 29026114, 29360338, 30664779, 33521702, 34465320, 36219611, 36804377, 37024492, 39929118	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome 22q11.2 Microduplication Syndrome	22q11.2 duplication syndrome	ORPHANET_DG	19254783		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 22q11.2 Microduplication Syndrome	Chromosome 22q11.2 microduplication syndrome	Pubtator	36722223	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	19137569	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	23034814	Associate	★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	25209980		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	22796526		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21220197, 21365650		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25003467, 26862851	Associate	★☆☆☆☆ Found in Text Mining only
Common atrioventricular canal	Complete Atrioventricular Canal Defect	BEFREE	23427188		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of parathyroid gland	Parathyroid agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	17117043, 8696341		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17041934, 23054247		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	23054247		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	11811651, 15929620, 19948535, 21049214, 21591244, 22194017, 22893440, 24998776, 29596833, 8644631, 9028455, 9415694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	17000704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	15096950, 25860641, 25981510, 29509905, 29568912, 7655455		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	BEFREE	24637876, 25209980		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	37107637	Associate	★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	BEFREE	14585638		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	ORPHANET_DG	14585638		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	CTD_human_DG	15190012, 16399080, 17000704		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	22185286, 23828768, 36789878	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conotruncal defect	Conotruncal defect	BEFREE	11239417, 12700609, 22185286, 23828768, 24998776, 29250159, 8566942		★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL HEART MALFORMATIONS (disorder)	Conotruncal heart defect	BEFREE	7633403		★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL HEART MALFORMATIONS (disorder)	Conotruncal heart defect	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL HEART MALFORMATIONS (disorder)	Conotruncal heart defect	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL HEART MALFORMATIONS (disorder)	Conotruncal heart defect	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	16399080		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	22801995, 25860641, 29568912, 29625509		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	23661601	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30772432		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26374515		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26374515		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25034792, 29154962		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	10102575, 10369860, 10602366, 11239417, 11242049, 11242110, 11412027, 11496370, 11585671, 11709542, 11807885, 11925570, 12005433, 12175881, 12351571, 12497610, 12533514, 12700609, 14585638, 14681306, 14708107, 15096950, 15523900, 15532024, 15652707, 15662599, 15703190, 15788257, 15821931, 16307865, 16399080, 16708226, 16915592, 17117043, 17343559, 17351135, 18033723, 18726671, 19805316, 20060941, 20215350, 20501333, 20730472, 20816801, 21123999, 21591244, 21797804, 24637876, 24797903, 25209980, 25556186, 25892112, 26742502, 28059126, 28105375, 28346476, 28436605, 29726930, 30799418, 7655455, 7856665, 8659529, 8786095, 9147638, 9192263, 9216164, 9449664, 9801257, 9809261, 9986884		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DiGeorge Syndrome	DiGeorge Syndrome	GENOMICS_ENGLAND_DG	11242110, 14585638, 17377518		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DiGeorge Syndrome	DiGeorge Syndrome	LHGDN	12858556, 15703190		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DiGeorge Syndrome	DiGeorge Syndrome	ORPHANET_DG	14585638		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DiGeorge Syndrome	DiGeorge Syndrome	UNIPROT_DG	14585638		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DiGeorge Syndrome	DiGeorge Syndrome	CTD_human_DG	15190012, 16399080, 17000704		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DiGeorge Syndrome	Digeorge syndrome	Pubtator	17273972, 19645056, 20551144, 21796729, 22185286, 23034814, 2339689, 24637876, 25981510, 27345603, 28272434, 28920943, 29851532, 31433868, 31830774, 35035663, 9536094	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DiGeorge Syndrome	Digeorge syndrome	Pubtator	33707356	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DiGeorge Syndrome	DiGeorge Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	23427188, 25860641, 28709661		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	34204335	Associate	★☆☆☆☆ 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	30949166		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	25209980		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11748311, 1349199, 17273972, 18636631, 23996541, 24998776, 25569435, 26056486, 26884814, 27617111		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear Diseases	BEFREE	11709542		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	1345174		★☆☆☆☆ Found in Text Mining only
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	BEFREE	8941634		★☆☆☆☆ Found in Text Mining only
Esophoria	Esophoria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia with accommodative compensation	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	21644207, 24292621		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
familial chordoma	Chordoma	BEFREE	19801981		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31180501		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31180501		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	30592646		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	31180501		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	29749711		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37373295	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28320150		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32785847	Inhibit	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28424357		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	25034792		★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar syndrome	Pubtator	27345603	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	1983329	Stimulate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	17459075		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	17459075	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	19948535, 22318994, 25981510, 33707356, 35035663, 36205932	Associate	★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	34807923	Associate	★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	12005433, 9545093		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25034792		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	9627147		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28597760, 29625509		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	24637876	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	24637876, 28920943, 30137364, 31433868	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	30137364, 8696341		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	14514346		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	28918207		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	1983329	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28597760		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inguinal Hernia, Indirect	Inguinal Hernia	BEFREE	24295890		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	37898813	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17377518		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Interrupted aortic arch	Interrupted aortic arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kenny-Caffey syndrome	Kenny-Caffey Syndrome	BEFREE	9475091		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27576016		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	32469167	Associate	★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	22796526		★☆☆☆☆ Found in Text Mining only
LEPTIN DEFICIENCY OR DYSFUNCTION	LEPTIN DEFICIENCY OR DYSFUNCTION	BEFREE	29154962		★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	2323782		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	38203204	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	31550482		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25499255		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	20071775, 22611028, 25744730		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20071775, 22611028, 25683840, 25744730, 27893433	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23076115, 25683840	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22399187, 24815864, 27580659, 28621227, 29399164, 31713604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	24956286		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22611028, 25683840, 25744730, 28122267		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30543152		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21365650, 22595058, 22931165, 23783250, 24232574, 24504414, 25499255, 27580659, 28214895, 28621227, 28855356, 29020634, 29026114, 29178520, 31775613		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24815864		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	31171820		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23661601		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23661601	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	16282778, 16684884, 17343559, 17622328, 17850965, 23799583, 25325218		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17377518		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	BEFREE	20816801, 25556186		★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	BEFREE	30121012		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	30121012		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	17117043		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	17343558, 17622328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	17622328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	30453543	Associate	★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11029509, 11844605, 20071775, 20480190, 21220197, 22595058, 23814489, 24086644, 24260133, 25683840, 26374823, 27580659, 28214895, 28432450, 28621227, 28698067, 28753115, 28835717, 28920943, 29399164, 29774202, 30543152, 30892619, 31501892		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	10332959, 30592646		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36130928	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	12483293		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17980147, 25683840, 27176766		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	17343559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	18003636, 21334567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	26273678, 29803631, 31440209		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26273678	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	31572455		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Occipital myelomeningocele	Myelomeningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	23524414, 28603561	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	24886251		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	25452432		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30543152		★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid hypoplasia	Parathyroid hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	28920943		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	28920943	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34101221	Associate	★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	11302742, 20480190, 7479776, 7901207, 8946118, 9153281		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	21908517, 9809261		★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	BEFREE	15081804		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	1975096		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	24423332		★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious pubarche	Precocious Pubarche	BEFREE	12050213		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	25217961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27049720	Associate	★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	1348046		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	17343559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	18003636, 21334567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	BEFREE	27825814		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30016433		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	25433496		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	19280657		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30016433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sacral agenesis	Sacral Agenesis	BEFREE	24253444		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	12497610, 15532024		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11496370, 12476324, 12497610, 15532024, 17850965, 18003636, 21797804, 22130109, 25325218, 27005988, 9050917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16684884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18003636, 21334567, 21797804, 22130109, 25325218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	26099010	Stimulate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	39929118	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	11242110		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	9192263		★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	11239417, 11242110, 11496370, 11709542, 11807885, 11925570, 12175881, 12497610, 12700609, 14585638, 14681306, 14708107, 15177686, 15523900, 15532024, 15662599, 15788257, 15821931, 16307865, 16915592, 17117043, 17343559, 17351135, 18033723, 18726671, 20730472, 21797804, 22796526, 23000736, 25209980, 25556186, 28059126, 30799418, 8786095, 9063746, 9118473, 9147638, 9192263, 9216164, 9449664, 9801257, 9809261, 9986884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen syndrome	Shprintzen Syndrome	UNIPROT_DG	14585638, 17273972		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen syndrome	Shprintzen Syndrome	ORPHANET_DG	14585638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen syndrome	Shprintzen Syndrome	CTD_human_DG	15190012, 16399080, 17000704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen syndrome	Shprintzen Syndrome	GENOMICS_ENGLAND_DG	17377518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen syndrome	Shprintzen Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	10102575, 11239417, 11242049, 11242110, 11412027, 11585671, 11807885, 11925570, 12005433, 12175881, 12497610, 12533514, 14585638, 14681306, 14708107, 15096950, 15523900, 15652707, 15662599, 15703190, 15788257, 16307865, 16708226, 16915592, 17117043, 17343559, 17351135, 18033723, 18726671, 19805316, 20060941, 20215350, 20501333, 20730472, 20816801, 21123999, 21591244, 21797804, 24797903, 25556186, 25892112, 26742502, 28059126, 28346476, 29726930, 30799418, 7655455, 9147638, 9192263, 9216164, 9449664, 9809261, 9986884		★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	23427188		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	29625509, 30371262		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	30543152		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26099010	Stimulate	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	18466071	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23076115		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23076115	Associate	★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31625918		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	29749711		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	29749711	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	19948535, 20937753, 25093829, 25981510, 30582441, 30766556, 31869684	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	20937753, 21591244, 23956173, 25981510, 26036351, 26425859, 29045289, 31346663, 7759065		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	ORPHANET_DG	20937753		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	CTD_human_DG	25093829		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombasthenia	Thrombasthenia	BEFREE	1317725		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30543152		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30543152		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	11302742, 12050213, 1349567, 14514346, 1840568, 1903760, 20480190, 28818352, 29250159, 29625509, 30371262, 7901207, 9153281		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transposition of the Great Arteries, Dextro-Looped 1	Transposition Of Great Vessels	BEFREE	28818352		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11811651, 17000704, 22185286		★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26781859, 27580659, 29399164		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27580659	Associate	★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	21591244, 28346476, 29509905, 31758944		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	BEFREE	12005433, 24068957		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral primary pulmonary dysgenesis	Pulmonary dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	11242110, 17117043, 21763005, 23034814, 25556186, 30121012		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32579540	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33557670	Inhibit	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	22801995, 25307363, 25860641, 29250159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	14514346		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 3	von Willebrand disorder	BEFREE	1448779		★☆☆☆☆ Found in Text Mining only