MYRF (myelin regulatory factor)

Gene

• Entrez ID: 745
• Gene name: Myelin regulatory factor
• Gene symbol: MYRF
• Synonyms (NCBI Gene): 11orf9, C11orf9, CUGS, MMERV, MRF, NNO1, Ndt80, pqn-47
• Chromosome: 11
• Chromosome location: 11q12.2
• Summary: This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also direct

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs769274302	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs1057518279	G>A	Pathogenic, uncertain-significance	Splice donor variant
rs1367545625	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1382225004	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565286228	GCACCGGGCCCCCCATC>T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1565295267	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1565295286	A>G	Pathogenic	Coding sequence variant, missense variant
rs1565295395	->GA	Pathogenic	Coding sequence variant, frameshift variant
rs1565295550	G>A	Pathogenic	Coding sequence variant, missense variant
rs1565304230	C>T	Pathogenic	Coding sequence variant, stop gained
rs1565307564	A>G	Pathogenic	Coding sequence variant, missense variant
rs1565308384	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1591137064	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005688	hsa-miR-145-5p	Luciferase reporter assay	20737575
MIRT005688	hsa-miR-145-5p	Luciferase reporter assay	20737575
MIRT038236	hsa-miR-330-5p	CLASH	23622248
MIRT656008	hsa-miR-8080	HITS-CLIP	23824327
MIRT656006	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT656005	hsa-miR-3938	HITS-CLIP	23824327
MIRT656004	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT656003	hsa-miR-4638-3p	HITS-CLIP	23824327
MIRT656002	hsa-miR-378a-3p	HITS-CLIP	23824327
MIRT656001	hsa-miR-378b	HITS-CLIP	23824327
MIRT656000	hsa-miR-378c	HITS-CLIP	23824327
MIRT655999	hsa-miR-378d	HITS-CLIP	23824327
MIRT655998	hsa-miR-378e	HITS-CLIP	23824327
MIRT655997	hsa-miR-378f	HITS-CLIP	23824327
MIRT655996	hsa-miR-378h	HITS-CLIP	23824327
MIRT655995	hsa-miR-378i	HITS-CLIP	23824327
MIRT655994	hsa-miR-422a	HITS-CLIP	23824327
MIRT655993	hsa-miR-623	HITS-CLIP	23824327
MIRT655992	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT655991	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT655990	hsa-miR-1299	HITS-CLIP	23824327
MIRT655989	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT655988	hsa-miR-4782-5p	HITS-CLIP	23824327
MIRT655987	hsa-miR-5706	HITS-CLIP	23824327
MIRT655986	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655985	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT495941	hsa-miR-17-3p	PAR-CLIP	22291592
MIRT495940	hsa-miR-2861	PAR-CLIP	22291592
MIRT495939	hsa-miR-376a-3p	PAR-CLIP	22291592
MIRT495938	hsa-miR-376b-3p	PAR-CLIP	22291592
MIRT656008	hsa-miR-8080	HITS-CLIP	23824327
MIRT656006	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT656005	hsa-miR-3938	HITS-CLIP	23824327
MIRT656004	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT656003	hsa-miR-4638-3p	HITS-CLIP	23824327
MIRT656002	hsa-miR-378a-3p	HITS-CLIP	23824327
MIRT656001	hsa-miR-378b	HITS-CLIP	23824327
MIRT656000	hsa-miR-378c	HITS-CLIP	23824327
MIRT655999	hsa-miR-378d	HITS-CLIP	23824327
MIRT655998	hsa-miR-378e	HITS-CLIP	23824327
MIRT655997	hsa-miR-378f	HITS-CLIP	23824327
MIRT655996	hsa-miR-378h	HITS-CLIP	23824327
MIRT655995	hsa-miR-378i	HITS-CLIP	23824327
MIRT655994	hsa-miR-422a	HITS-CLIP	23824327
MIRT655993	hsa-miR-623	HITS-CLIP	23824327
MIRT655992	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT655991	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT655990	hsa-miR-1299	HITS-CLIP	23824327
MIRT655989	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT655988	hsa-miR-4782-5p	HITS-CLIP	23824327
MIRT655987	hsa-miR-5706	HITS-CLIP	23824327
MIRT655986	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655985	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT495941	hsa-miR-17-3p	PAR-CLIP	22291592
MIRT495940	hsa-miR-2861	PAR-CLIP	22291592
MIRT495939	hsa-miR-376a-3p	PAR-CLIP	22291592
MIRT495938	hsa-miR-376b-3p	PAR-CLIP	22291592

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014003	Process	Oligodendrocyte development	ISS
GO:0016020	Component	Membrane	IEA
GO:0016540	Process	Protein autoprocessing	IBA
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016540	Process	Protein autoprocessing	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0022010	Process	Central nervous system myelination	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031643	Process	Positive regulation of myelination	IEA
GO:0031643	Process	Positive regulation of myelination	ISS
GO:0032286	Process	Central nervous system myelin maintenance	IBA
GO:0032286	Process	Central nervous system myelin maintenance	IEA
GO:0032286	Process	Central nervous system myelin maintenance	ISS
GO:0035902	Process	Response to immobilization stress	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042802	Function	Identical protein binding	IPI	23966832
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	ISS
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA

Other IDs

• MIM: 608329
• HGNC: 1181
• e!Ensembl: ENSG00000124920

Protein

• UniProt ID: Q9Y2G1
• Protein name: Myelin regulatory factor (EC 3.4.-.-) (Myelin gene regulatory factor) [Cleaved into: Myelin regulatory factor, N-terminal; Myelin regulatory factor, C-terminal]
• Protein function: [Myelin regulatory factor]: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous sy
• PDB: 5YHU, 5ZHU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05224	NDT80_PhoG	393 → 540	NDT80 / PhoG like DNA-binding family	Family
  PF13884	Peptidase_S74	587 → 647	Chaperone of endosialidase	Domain
  PF13887	MRF_C1	667 → 702	Myelin gene regulatory factor -C-terminal domain 1	Domain
  PF13888	MRF_C2	1016 → 1150	Myelin gene regulatory factor C-terminal domain 2	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lung, ARPE-19 cell line, brainstem, uterus and, to a lesser extent, in basal ganglion and liver. Weakly expressed in cerebellum and retina. {ECO:0000269|PubMed:10828591}.
• Sequence:

  MEVVDETEALQRFFEGHDINGALEPSNIDTSILEEYISKEDASDLCFPDISAPASSASYS
  HGQPAMPGSSGVHHLSPPGGGPSPGRHGPLPPPGYGTPLNCNNNNGMGAAPKPFPGGTGP
  PIKAEPKAPYAPGTLPDSPPDSGSEAYSPQQVNEPHLLRTITPETLCHVGVPSRLEHPPP
  PPAHLPGPPPPPPPPPHYPVLQRDLYMKAEPPIPHYAAMGQGLVPTDLHHTQQSQMLHQL
  LQQHGAELPTHPSKKRKHSESPPSTLNAQMLNGMIKQEPGTVTALPLHPTRAPSPPWPPQ
  GPLSPGPGSLPLSIARVQTPPWHPPGAPSPGLLQDSDSLSGSYLDPNYQSIKWQPHQQNK
  WATLYDANYKELPMLTYRVDADKGFNFSVGDDAFVCQKKNHFQVTVYIGMLGEPKYVKTP
  EGLKPLDCFYLKLHGVKLEALNQSINIEQSQSDRSKRPFNPVTVNLPPEQVTKVTVGRLH
  FSETTANNMRKKGKPNPDQRYFMLVVALQAHAQNQNYTLAAQISERIIVRASNPGQFESD
  SDVLWQRAQVPDTVFHHGRVGINTDRPDEALVVHGNVKVMGSLMHPSDLRAKEHVQEVDT
  TEQLKRISRMRLVHYRYKPEFAASAGIEATAPETGVIAQEVKEILPEAVKDTGDMVFANG
  KTIENFLVVNKERIFMENVGAVKELCKLTDNLETRIDELERWSHKLAKLRRLDSLKSTGS
  SGAFSHAGSQFSRAGSVPHKKRPPKVASKSSSVVPDQACISQRFLQGTIIALVVVMAFSV
  VSMSTLYVLSLRTEEDLVDTDGSFAVSTSCLLALLRPQPPGGSEALCPWSSQSFGTTQLR
  QSPLTTGLPGIQPSLLLVTTSLTSSAPGSAVRTLDMCSSHPCPVICCSSPTTNPTTGPSL
  GPSFNPGHVLSPSPSPSTNRSGPSQMALLPVTNIRAKSWGLSVNGIGHSKHHKSLEPLAS
  PAVPFPGGQGKAKNSPSLGFHGRARRGALQSSVGPAEPTWAQGQSASLLAEPVPSLTSIQ
  VLENSMSITSQYCAPGDACRPGNFTYHIPVSSGTPLHLSLTLQMNSSSPVSVVLCSLRSK
  EEPCEEGSLPQSLHTHQDTQGTSHRWPITILSFREFTYHFRVALLGQANCSSEALAQPAT
  DYHFHFYRLCD

• Sequence length: 1151

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
Abnormality of the genitourinary system	Likely pathogenic; Pathogenic	rs1565295550, rs762143393, rs2066051319, rs2066302424, rs1027079885, rs2066382188, rs2066445430	RCV001291520 RCV001291138 RCV001291519 RCV001291139 RCV001291140 RCV001291141 RCV001291137	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiac-urogenital syndrome	Likely pathogenic; Pathogenic	rs2135897895, rs2135782176, rs2135840297, rs2135791768, rs753113267, rs2540883016, rs2540953908, rs2540946087, rs1202514159, rs1565304230, rs1565295395, rs1565295550, rs1367545625, rs1565286228, rs1565307564, rs1565308384, rs769274302, rs1162309498, rs2066528136, rs2066476573	RCV001358683 RCV002086732 RCV002071033 RCV002251061 RCV002272789 RCV002291233 RCV003148241 RCV003985975 RCV003991316 RCV000736003 RCV000736004 RCV000758213 RCV005431916 RCV000786768 RCV000786766 RCV000786767 RCV002468614 RCV001194632 RCV001194628 RCV001267679	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital diaphragmatic hernia	Likely pathogenic; Pathogenic	rs1565295550, rs2066051319, rs1027079885, rs2066445430	RCV001291520 RCV001291519 RCV001291140 RCV001291137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dextrocardia	Likely pathogenic	rs762143393	RCV001254676	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorder of sexual differentiation	Likely pathogenic; Pathogenic	rs2135748075, rs2066528136	RCV001568316 RCV001568317	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	Pathogenic	rs2540953908, rs1565295286	RCV003148240 RCV000679810	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of	Likely pathogenic; Pathogenic	rs1565295550, rs762143393, rs2066051319, rs2066302424, rs1027079885, rs2066382188, rs2066445430	RCV001291520 RCV001291138 RCV001291519 RCV001291139 RCV001291140 RCV001291141 RCV001291137	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYRF-related disorder	Likely pathogenic; Pathogenic	rs2135856808, rs2541005761, rs2540930253, rs2540954236, rs2540949362, rs2540892544, rs1565295286	RCV001733832 RCV003335923 RCV004527900 RCV004529649 RCV004528050 RCV004528752 RCV004531931	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nanophthalmos 1	Pathogenic	rs1591137064	RCV000786043	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2135843880	RCV002277661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs769274302	RCV001376017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC UROGENITAL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE-CLOSURE GLAUCOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scimitar syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNOVITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROGENITAL ABNORMALITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XX Disorders of Sex Development	46, XX Disorders of Sex Development	BEFREE	30985895		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	24836286, 26965516, 29471430, 30510241, 30529582		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	29476661	Associate	★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	31172260		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	32997974	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31769911		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	32253986	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40430008	Associate	★☆☆☆☆ Found in Text Mining only
Bronchomalacia	Bronchomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32997974	Associate	★☆☆☆☆ Found in Text Mining only
CARDIAC-UROGENITAL SYNDROME	Cardiac-Urogenital Syndrome	UNIPROT_DG	29446546, 30070761, 30532227		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIAC-UROGENITAL SYNDROME	Cardiac-Urogenital Syndrome	GENOMICS_ENGLAND_DG	29446546, 30532227		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIAC-UROGENITAL SYNDROME	Cardiac-Urogenital Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral Infarction	Ischemic stroke	Pubtator	36193932	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	35051193	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASCAT_DG	29545352		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	28803093		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	24836286, 26965516, 29471430, 30510241, 30529582		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASDB_DG	24836286		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	24836286, 26965516, 29471430, 30510241, 30529582		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29258461	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	30532227		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23383292, 27004414	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919, 26974007		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	12543751	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	30532227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dextrocardia	Dextrocardia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dextrocardia	Dextrocardia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	27004414	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27004414	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	37147882	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	35432193	Associate	★☆☆☆☆ Found in Text Mining only
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION	Encephalitis/Encephalopathy With Reversible Myelin Vacuolization	UNIPROT_DG	29265453		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION	Encephalitis/Encephalopathy With Reversible Myelin Vacuolization	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathies	Epileptic encephalopathy	BEFREE	29265453		★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	35136345, 9792868	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal hypoplasia	Gonadal hypoplasia	GENOMICS_ENGLAND_DG	30532227		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	30532227, 37584388	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37584388	Associate	★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	BEFREE	31172260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	Pubtator	33203948, 9792868	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32651235	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23404842	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	39300613	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29545352		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	24836286, 26965516, 29471430, 30510241, 30529582		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	21725308		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30415476		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	24836286, 26965516, 29471430, 30510241, 30529582		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	19526372, 31048900, 31266062		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	GENOMICS_ENGLAND_DG	31048900, 31700225		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	32052405	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GWASCAT_DG	29273593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	GWASCAT_DG	29273593		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28631093		★☆☆☆☆ Found in Text Mining only
Muscular ventricular septum defect	Muscular ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nanophthalmos 1	Nanophthalmos	Pubtator	12543751, 32052405, 33004036, 33203948, 9792868	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nasal Polyps	Nasal polyposis	GWASCAT_DG	30643255		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28880161		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23404842	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28598979	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32997974, 35659199	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Persistent umbilical sinus	Persistent Umbilical Sinus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	15018634		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30415476		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rectal Carcinoma	Rectal Carcinoma	BEFREE	28328820		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28940820		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Scimitar Syndrome	Scimitar Syndrome	BEFREE	29446546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scimitar Syndrome	Scimitar Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scimitar Syndrome	Scimitar Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Central	Sleep Apnea	BEFREE	28803093		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36193932	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36193932	Inhibit	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Total Anomalous Pulmonary Venous Return 1	Congenital total pulmonary venous return anomaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	29446546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	29446546, 30532227, 37584388	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only