HIRA (histone cell cycle regulator)

Gene

• Entrez ID: 7290
• Gene name: Histone cell cycle regulator
• Gene symbol: HIRA
• Synonyms (NCBI Gene): DGCR1, TUP1, TUPLE1
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an imp

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050759	hsa-miR-17-3p	CLASH	23622248
MIRT037000	hsa-miR-877-3p	CLASH	23622248
MIRT1047409	hsa-miR-1200	CLIP-seq
MIRT1047410	hsa-miR-1827	CLIP-seq
MIRT1047411	hsa-miR-4324	CLIP-seq
MIRT1047412	hsa-miR-4649-3p	CLIP-seq
MIRT1047413	hsa-miR-4667-3p	CLIP-seq
MIRT1047414	hsa-miR-544b	CLIP-seq
MIRT2010749	hsa-miR-1286	CLIP-seq
MIRT2010750	hsa-miR-138	CLIP-seq
MIRT2010751	hsa-miR-1913	CLIP-seq
MIRT2010752	hsa-miR-1976	CLIP-seq
MIRT2010753	hsa-miR-2054	CLIP-seq
MIRT2010754	hsa-miR-324-3p	CLIP-seq
MIRT2010755	hsa-miR-4276	CLIP-seq
MIRT2010756	hsa-miR-4280	CLIP-seq
MIRT2010757	hsa-miR-4302	CLIP-seq
MIRT2010758	hsa-miR-4436a	CLIP-seq
MIRT2010759	hsa-miR-4718	CLIP-seq
MIRT2010760	hsa-miR-4722-5p	CLIP-seq
MIRT2010761	hsa-miR-513a-3p	CLIP-seq
MIRT2010762	hsa-miR-548q	CLIP-seq
MIRT2010763	hsa-miR-622	CLIP-seq
MIRT2010764	hsa-miR-944	CLIP-seq
MIRT2243029	hsa-miR-103a	CLIP-seq
MIRT2243030	hsa-miR-107	CLIP-seq
MIRT2243031	hsa-miR-1184	CLIP-seq
MIRT1047409	hsa-miR-1200	CLIP-seq
MIRT2243032	hsa-miR-15a	CLIP-seq
MIRT2243033	hsa-miR-15b	CLIP-seq
MIRT2243034	hsa-miR-16	CLIP-seq
MIRT1047410	hsa-miR-1827	CLIP-seq
MIRT2243035	hsa-miR-195	CLIP-seq
MIRT2010753	hsa-miR-2054	CLIP-seq
MIRT2243036	hsa-miR-24	CLIP-seq
MIRT2243037	hsa-miR-342-3p	CLIP-seq
MIRT2243038	hsa-miR-3679-3p	CLIP-seq
MIRT2243039	hsa-miR-424	CLIP-seq
MIRT2243040	hsa-miR-4284	CLIP-seq
MIRT2243041	hsa-miR-4320	CLIP-seq
MIRT1047411	hsa-miR-4324	CLIP-seq
MIRT1047412	hsa-miR-4649-3p	CLIP-seq
MIRT1047413	hsa-miR-4667-3p	CLIP-seq
MIRT2243042	hsa-miR-4719	CLIP-seq
MIRT2243043	hsa-miR-4763-5p	CLIP-seq
MIRT2243044	hsa-miR-4768-5p	CLIP-seq
MIRT2243045	hsa-miR-497	CLIP-seq
MIRT1047414	hsa-miR-544b	CLIP-seq
MIRT2243046	hsa-miR-550a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000417	Component	HIR complex	IBA
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	14718166
GO:0000785	Component	Chromatin	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	9731536
GO:0005515	Function	Protein binding	IPI	9710638, 11342215, 16980972, 19029251, 24981860, 26496610, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9710638
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IDA	14718166
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9731536
GO:0007369	Process	Gastrulation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	7633437
GO:0016605	Component	PML body	IEA
GO:0031491	Function	Nucleosome binding	IBA
GO:0032991	Component	Protein-containing complex	IDA	14718166
GO:0042393	Function	Histone binding	IDA	9731536
GO:0042692	Process	Muscle cell differentiation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9731536
GO:0070062	Component	Extracellular exosome	HDA	18570454

Other IDs

• MIM: 600237
• HGNC: 4916
• e!Ensembl: ENSG00000100084

Protein

• UniProt ID: P54198
• Protein name: Protein HIRA (TUP1-like enhancer of split protein 1)
• Protein function: Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF
• PDB: 2I32, 5YJE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	4 → 44	WD domain, G-beta repeat	Repeat
  PF00400	WD40	61 → 98	WD domain, G-beta repeat	Repeat
  PF00400	WD40	121 → 159	WD domain, G-beta repeat	Repeat
  PF00400	WD40	164 → 202	WD domain, G-beta repeat	Repeat
  PF07569	Hira	764 → 962	TUP1-like enhancer of split	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in kidney, pancreas and skeletal muscle and at lower levels in brain, heart, liver, lung, and placenta. {ECO:0000269|PubMed:9063745}.
• Sequence:

  MKLLKPTWVNHNGKPIFSVDIHPDGTKFATGGQGQDSGKVVIWNMSPVLQEDDEKDENIP
  KMLCQMDNHLACVNCVRWSNSGMYLASGGDDKLIMVWKRATYIGPSTVFGSSGKLANVEQ
  WRCVSILRNHSGDVMDVAWSPHDAWLASCSVDNTVVIWNAVKFPEILATLRGHSGLVKGL
  TWDPVGKYIASQADDRSLKVWRTLDWQLETSITKPFDECGGTTHVLRLSWSPDGHYLVSA
  HAMNNSGPTAQIIEREGWKTNMDFVGHRKAVTVVKFNPKIFKKKQKNGSSAKPSCPYCCC
  AVGSKDRSLSVWLTCLKRPLVVIHELFDKSIMDISWTLNGLGILVCSMDGSVAFLDFSQD
  ELGDPLSEEEKSRIHQSTYGKSLAIMTEAQLSTAVIENPEMLKYQRRQQQQQLDQKSAAT
  REMGSATSVAGVVNGESLEDIRKNLLKKQVETRTADGRRRITPLCIAQLDTGDFSTAFFN
  SIPLSGSLAGTMLSSHSSPQLLPLDSSTPNSFGASKPCTEPVVAASARPAGDSVNKDSMN
  ATSTPAALSPSVLTTPSKIEPMKAFDSRFTERSKATPGAPALTSMTPTAVERLKEQNLVK
  ELRPRDLLESSSDSDEKVPLAKASSLSKRKLELEVETVEKKKKGRPRKDSRLMPVSLSVQ
  SPAALTAEKEAMCLSAPALALKLPIPSPQRAFTLQVSSDPSMYIEVENEVTVVGGVKLSR
  LKCNREGKEWETVLTSRILTAAGSCDVVCVACEKRMLSVFSTCGRRLLSPILLPSPISTL
  HCTGSYVMALTAAATLSVWDVHRQVVVVKEESLHSILAGSDMTVSQILLTQHGIPVMNLS
  DGKAYCFNPSLSTWNLVSDKQDSLAQCADFRSSLPSQDAMLCSGPLAIIQGRTSNSGRQA
  ARLFSVPHVVQQETTLAYLENQVAAALTLQSSHEYRHWLLVYARYLVNEGFEYRLREICK
  DLLGPVHYSTGSQWESTVVGLRKRELLKELLPVIGQNLRFQRLFTECQEQLDILRDK

• Sequence length: 1017

Pathways

Reactome:

Formation of Senescence-Associated Heterochromatin Foci (SAHF)

Associated diseases

Evidence Score:

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

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
22Q11.2 DELETION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22Q13.3 DELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi anemia complementation group T	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP T	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRA-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ 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	ORPHANET_DG	15177686		★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	BEFREE	18000985, 27748330		★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	27748330	Associate	★☆☆☆☆ Found in Text Mining only
22q11 partial monosomy syndrome	22q11 partial monosomy syndrome	ORPHANET_DG	15177686		★☆☆☆☆ Found in Text Mining only
22q11.2 deletion syndrome	22q11.2 deletion syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia totalis	Alopecia	BEFREE	11886538		★☆☆☆☆ 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
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
Arthropathy	Arthropathy	BEFREE	29456569		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	ORPHANET_DG	15177686		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ 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
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
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30365520	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ 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 disease	Congenital Heart Disease	BEFREE	30030774		★☆☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	22208759	Associate	★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	ORPHANET_DG	15177686		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	27748330	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	27748330		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	8681138, 9710638		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	1711209, 7681983	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	1711209, 1764093, 7681983, 7821730, 8359580		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	10381330, 15995343, 17099929, 20551144, 7633437, 8111380, 8681138, 9063745, 9710638, 9712723, 9933243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	DiGeorge Syndrome	ORPHANET_DG	15177686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	Digeorge syndrome	Pubtator	20430655	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	Digeorge syndrome	Pubtator	39842802, 8681138, 9326327	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	19268070	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	GWASCAT_DG	26252872		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25666827		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28495528		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ 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
Meningioma	Meningioma	BEFREE	16197812		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ 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
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25512559		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	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
Osteoporosis	Osteoporosis	BEFREE	29203636		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	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
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	3039503		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ 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
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	11443534, 17099929, 30233713, 9790763		★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	ORPHANET_DG	15177686		★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	10381330, 15995343, 17099929, 8111380, 8681138, 9063745, 9710638, 9712723, 9933243		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	10390265, 11339381, 27748330		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	27748330	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only