PQBP1 (polyglutamine binding protein 1)

Gene

• Entrez ID: 10084
• Gene name: Polyglutamine binding protein 1
• Gene symbol: PQBP1
• Synonyms (NCBI Gene): MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-li

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917899	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231193	AGAG>-,AG,AGAGAG	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs606231197	GAGCTGGCTCCCTATCCCAAGAG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs782547972	AGACCGGGGCCACGACAAGTC>-	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, inframe deletion
rs886044823	CAGA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557041239	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1602330420	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1602330603	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023988	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT030062	hsa-miR-26b-5p	Microarray	19088304
MIRT045513	hsa-miR-149-5p	CLASH	23622248
MIRT039988	hsa-miR-615-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IBA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IEA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IMP	23512658
GO:0002218	Process	Activation of innate immune response	IDA	26046437
GO:0002230	Process	Positive regulation of defense response to virus by host	IDA	26046437
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	TAS	9875212
GO:0003690	Function	Double-stranded DNA binding	IDA	26046437
GO:0003713	Function	Transcription coactivator activity	TAS	10198427
GO:0005515	Function	Protein binding	IPI	16713569, 19303059, 20307692, 25416956, 26046437, 26871637, 27314904, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10198427
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	10198427
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016604	Component	Nuclear body	IBA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0016607	Component	Nuclear speck	ISS
GO:0031175	Process	Neuron projection development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0032481	Process	Positive regulation of type I interferon production	IDA	26046437
GO:0036064	Component	Ciliary basal body	IDA
GO:0043021	Function	Ribonucleoprotein complex binding	IBA
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	23512658
GO:0043484	Process	Regulation of RNA splicing	IMP	23512658
GO:0045087	Process	Innate immune response	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IEA
GO:0051607	Process	Defense response to virus	IDA	26046437
GO:0071360	Process	Cellular response to exogenous dsRNA	IDA	26046437
GO:0071598	Component	Neuronal ribonucleoprotein granule	IEA
GO:0120025	Component	Plasma membrane bounded cell projection	IEA

Other IDs

• MIM: 300463
• HGNC: 9330
• e!Ensembl: ENSG00000102103

Protein

• UniProt ID: O60828
• Protein name: Polyglutamine-binding protein 1 (PQBP-1) (38 kDa nuclear protein containing a WW domain) (Npw38) (Polyglutamine tract-binding protein 1)
• Protein function: Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:1206201
• PDB: 4BWQ, 4BWS, 4CDO
• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes. {ECO:0000269|PubMed:10198427, ECO:0000269|PubMed:10332029}.
• Sequence:

  MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSC
  GLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRS
  HEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHR
  REELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
  QQRPYPSPGAVLRANAEASRTKQQD

• Sequence length: 265

Pathways

KEGG:

Spliceosome

Reactome:

mRNA Splicing - Major Pathway

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
Autism spectrum disorder	Likely pathogenic	rs2063451959	RCV003127736	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Likely pathogenic; Pathogenic	rs606231193	RCV000414864	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperactivity	Likely pathogenic; Pathogenic	rs606231193	RCV000414864	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs606231193, rs1557041672	RCV000850214 RCV005626141	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs606231193, rs1602333390	RCV000414864 RCV000790435	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PQBP1-related disorder	Pathogenic; Likely pathogenic	rs606231193, rs1557041672	RCV004745153 RCV003892507	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renpenning syndrome	Likely pathogenic; Pathogenic	rs2063344708, rs2147472456, rs2147468376, rs2147475642, rs2519613503, rs2519629641, rs606231193, rs606231196, rs606231197, rs121917899, rs2519619667, rs2519618086, rs1557041672, rs1602332039, rs1602330420, rs2063444025, rs2063451959	RCV001332660 RCV002253997 RCV002245272 RCV002254145 RCV002465378 RCV003150910 RCV000011726 RCV000011727 RCV000011728 RCV000011729 RCV000011730 RCV000011732 RCV003444033 RCV004515777 RCV000680077 RCV000995613 RCV001007842 RCV001197974 RCV001255844	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECTS, ATRIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY, PORTEOUS TYPE	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY, SUTHERLAND-HAAN TYPE	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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
Asthma	Asthma	BEFREE	29785881		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CTD_human_DG	16740914		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	14634649		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34493366	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	8826457		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31059280		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	25070536, 28627366		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36797465	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	13981686, 14634649, 15355434, 15782410, 16740914, 20950397		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	31718390		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25425167		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	20033348		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	16740914	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hamel cerebro-palato-cardiac syndrome	Hamel Cerebro-Palato-Cardiac Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	16740914	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	14634649		★☆☆☆☆ Found in Text Mining only
Hereditary X-Linked Recessive Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	14634649		★☆☆☆☆ Found in Text Mining only
HMSN Type V	Charcot-Marie-Tooth disease	CTD_human_DG	14634649		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30283027		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16597440, 17033686, 19119319, 19661183, 20410308, 21267006, 21315190, 21933836, 22710169, 23512658, 25425167, 27456546, 28627366, 30244542, 30283027, 30951824, 31718390, 9598720		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	21267006, 24781215, 27456546, 30500859, 32041777, 9545405	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30244542		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	BEFREE	23622180		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	1605216, 16597440, 17033686, 19119319, 19661183, 20410308, 21315190, 9598720		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	14634649, 15355434, 16493439, 16740914, 17033686, 19119319, 19847789, 20950397, 21315190, 22901698, 7943041, 9545405		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	14634649, 15024694, 15355434		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	14634649, 15024694		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 19	Mental Retardation, X-Linked	BEFREE	8826457		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	14634649, 15024694, 16740914		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	LHGDN	15024694		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	16740914	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	BEFREE	20950397, 21315190, 25070536, 25107856		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	BEFREE	30244542		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	GENOMICS_ENGLAND_DG	30244542		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	CTD_human_DG	14634649, 15024694, 16740914		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	17033686, 31718390		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	12651867, 16104847		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23512658		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16104847, 21933836, 23512658, 23745510, 28627366		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16104847		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31205570		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	CTD_human_DG	16740914		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23745510		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	BEFREE	30244542		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	GENOMICS_ENGLAND_DG	30244542		★☆☆☆☆ Found in Text Mining only
Persistent Ostium Primum	Persistent Ostium Primum	CTD_human_DG	16740914		★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	CLINGEN_DG	12651867, 14634649, 15024694, 15782410, 16493439, 23512658, 24781215, 25070536, 28073926		★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	GENOMICS_ENGLAND_DG	14634649, 17033686, 7943045		★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	CLINVAR_DG	14634649, 15024694, 17033686, 20950397, 26633545, 7943045, 9545405		★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	UNIPROT_DG	14634649, 16740914, 20410308, 21315190, 23512658, 26046437		★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	CTD_human_DG	15024694, 15782410, 16740914		★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	BEFREE	15355434, 15782410, 20410308, 20950397, 21204222, 22710169, 23622180, 26002102, 28073926, 31698189, 31718390, 9545405		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	14634649, 15024694, 16740914		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	17333282		★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	CTD_human_DG	14634649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	12062018, 12651867		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	20033348		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	34493366	Stimulate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	25425167		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability, Golabi-Ito-Hall type	Mental Retardation, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked intellectual disability, Porteous type	Mental Retardation, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked intellectual disability, Sutherland-Haan type	Mental Retardation, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked, Spastic Paraplegia, Hereditary	Hereditary spastic paraplegia, X-linked	CTD_human_DG	14634649		★☆☆☆☆ Found in Text Mining only