MSX1 (msh homeobox 1)

Gene

• Entrez ID: 4487
• Gene name: Msh homeobox 1
• Gene symbol: MSX1
• Synonyms (NCBI Gene): ECTD3, HOX7, HYD1, STHAG1
• Chromosome: 4
• Chromosome location: 4p16.2
• Summary: This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28928890	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs28933081	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893850	C>T	Pathogenic	Stop gained, coding sequence variant
rs104893852	C>A	Pathogenic	Stop gained, coding sequence variant
rs104893853	C>A,G	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104893854	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs121913129	G>C	Pathogenic	Missense variant, coding sequence variant
rs121913130	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs515726227	->TA	Pathogenic	Frameshift variant, stop lost, terminator codon variant
rs1553877821	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1553878162	C>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1162001	hsa-miR-101	CLIP-seq
MIRT1162002	hsa-miR-129-5p	CLIP-seq
MIRT1162003	hsa-miR-144	CLIP-seq
MIRT1162004	hsa-miR-1909	CLIP-seq
MIRT1162005	hsa-miR-2052	CLIP-seq
MIRT1162006	hsa-miR-29a	CLIP-seq
MIRT1162007	hsa-miR-29b	CLIP-seq
MIRT1162008	hsa-miR-29c	CLIP-seq
MIRT1162009	hsa-miR-3065-3p	CLIP-seq
MIRT1162010	hsa-miR-3120-3p	CLIP-seq
MIRT1162011	hsa-miR-3135b	CLIP-seq
MIRT1162012	hsa-miR-3136-3p	CLIP-seq
MIRT1162013	hsa-miR-3159	CLIP-seq
MIRT1162014	hsa-miR-3163	CLIP-seq
MIRT1162015	hsa-miR-3185	CLIP-seq
MIRT1162016	hsa-miR-3545-3p	CLIP-seq
MIRT1162017	hsa-miR-3652	CLIP-seq
MIRT1162018	hsa-miR-3671	CLIP-seq
MIRT1162019	hsa-miR-4273	CLIP-seq
MIRT1162020	hsa-miR-4282	CLIP-seq
MIRT1162021	hsa-miR-4307	CLIP-seq
MIRT1162022	hsa-miR-4430	CLIP-seq
MIRT1162023	hsa-miR-4445	CLIP-seq
MIRT1162024	hsa-miR-4446-3p	CLIP-seq
MIRT1162025	hsa-miR-4492	CLIP-seq
MIRT1162026	hsa-miR-4498	CLIP-seq
MIRT1162027	hsa-miR-4677-5p	CLIP-seq
MIRT1162028	hsa-miR-4685-5p	CLIP-seq
MIRT1162029	hsa-miR-4733-3p	CLIP-seq
MIRT1162030	hsa-miR-4787-5p	CLIP-seq
MIRT1162031	hsa-miR-511	CLIP-seq
MIRT1162032	hsa-miR-513a-3p	CLIP-seq
MIRT1162033	hsa-miR-607	CLIP-seq
MIRT1162034	hsa-miR-653	CLIP-seq
MIRT1162035	hsa-miR-7	CLIP-seq
MIRT1162036	hsa-miR-762	CLIP-seq
MIRT1162037	hsa-miR-765	CLIP-seq
MIRT1162038	hsa-miR-939	CLIP-seq
MIRT1162002	hsa-miR-129-5p	CLIP-seq
MIRT1162019	hsa-miR-4273	CLIP-seq
MIRT1162023	hsa-miR-4445	CLIP-seq
MIRT1162027	hsa-miR-4677-5p	CLIP-seq
MIRT1162002	hsa-miR-129-5p	CLIP-seq
MIRT1162023	hsa-miR-4445	CLIP-seq
MIRT2046444	hsa-miR-383	CLIP-seq
MIRT2046445	hsa-miR-4494	CLIP-seq
MIRT2046446	hsa-miR-499a-5p	CLIP-seq
MIRT1162002	hsa-miR-129-5p	CLIP-seq
MIRT2275532	hsa-miR-1913	CLIP-seq
MIRT2275533	hsa-miR-324-3p	CLIP-seq
MIRT2275534	hsa-miR-361-3p	CLIP-seq
MIRT2275535	hsa-miR-4313	CLIP-seq
MIRT2275536	hsa-miR-4446-5p	CLIP-seq
MIRT2275537	hsa-miR-4753-3p	CLIP-seq
MIRT2275538	hsa-miR-4755-5p	CLIP-seq
MIRT2275539	hsa-miR-4768-5p	CLIP-seq
MIRT2275540	hsa-miR-670	CLIP-seq
MIRT1162002	hsa-miR-129-5p	CLIP-seq
MIRT1162019	hsa-miR-4273	CLIP-seq
MIRT1162023	hsa-miR-4445	CLIP-seq
MIRT1162027	hsa-miR-4677-5p	CLIP-seq
MIRT2275537	hsa-miR-4753-3p	CLIP-seq
MIRT2275539	hsa-miR-4768-5p	CLIP-seq
MIRT1162002	hsa-miR-129-5p	CLIP-seq
MIRT1162019	hsa-miR-4273	CLIP-seq
MIRT1162023	hsa-miR-4445	CLIP-seq
MIRT1162027	hsa-miR-4677-5p	CLIP-seq
MIRT2275537	hsa-miR-4753-3p	CLIP-seq
MIRT2275539	hsa-miR-4768-5p	CLIP-seq
MIRT1162002	hsa-miR-129-5p	CLIP-seq
MIRT1162023	hsa-miR-4445	CLIP-seq
MIRT2275537	hsa-miR-4753-3p	CLIP-seq
MIRT2275539	hsa-miR-4768-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXE1	Activation	21177256
PHOX2B	Repression	18201699

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000902	Process	Cell morphogenesis	IDA	15705871
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription 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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0002039	Function	P53 binding	IPI	15705871
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15705871
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007507	Process	Heart development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0021983	Process	Pituitary gland development	IEA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030308	Process	Negative regulation of cell growth	IDA	15705871
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0034399	Component	Nuclear periphery	IEA
GO:0034399	Component	Nuclear periphery	ISS
GO:0034504	Process	Protein localization to nucleus	IDA	15705871
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035880	Process	Embryonic nail plate morphogenesis	IEA
GO:0035880	Process	Embryonic nail plate morphogenesis	IMP	11369996
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IMP	8696335, 10742093, 11369996
GO:0042476	Process	Odontogenesis	IEA
GO:0042481	Process	Regulation of odontogenesis	IEA
GO:0042481	Process	Regulation of odontogenesis	ISS
GO:0042482	Process	Positive regulation of odontogenesis	IEA
GO:0042482	Process	Positive regulation of odontogenesis	ISS
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IC	15705871
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043584	Process	Nose development	IEA
GO:0043584	Process	Nose development	ISS
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045787	Process	Positive regulation of cell cycle	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048598	Process	Embryonic morphogenesis	IBA
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0048863	Process	Stem cell differentiation	IEA
GO:0050821	Process	Protein stabilization	IDA	15705871
GO:0051154	Process	Negative regulation of striated muscle cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060021	Process	Roof of mouth development	ISS
GO:0060325	Process	Face morphogenesis	IEA
GO:0060325	Process	Face morphogenesis	IMP	10742093, 11332647, 12651933
GO:0060349	Process	Bone morphogenesis	IEA
GO:0060536	Process	Cartilage morphogenesis	IEA
GO:0061180	Process	Mammary gland epithelium development	IEA
GO:0061311	Process	Cell surface receptor signaling pathway involved in heart development	IEA
GO:0071316	Process	Cellular response to nicotine	IEA
GO:0090427	Process	Activation of meiosis	IEA
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:1901330	Process	Negative regulation of odontoblast differentiation	IEA
GO:1901330	Process	Negative regulation of odontoblast differentiation	ISS
GO:1902255	Process	Positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IDA	15705871
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001055	Process	Positive regulation of mesenchymal cell apoptotic process	IEA

Other IDs

• MIM: 142983
• HGNC: 7391
• e!Ensembl: ENSG00000163132

Protein

• UniProt ID: P28360
• Protein name: Homeobox protein MSX-1 (Homeobox protein Hox-7) (Msh homeobox 1-like protein)
• Protein function: Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements (DARE) in the gene promoter, thereby repressi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	173 → 229	Homeodomain	Domain

• Sequence:

  MAPAADMTSLPLGVKVEDSAFGKPAGGGAGQAPSAAAATAAAMGADEEGAKPKVSPSLLP
  FSVEALMADHRKPGAKESALAPSEGVQAAGGSAQPLGVPPGSLGAPDAPSSPRPLGHFSV
  GGLLKLPEDALVKAESPEKPERTPWMQSPRFSPPPARRLSPPACTLRKHKTNRKPRTPFT
  TAQLLALERKFRQKQYLSIAERAEFSSSLSLTETQVKIWFQNRRAKAKRLQEAELEKLKM
  AAKPMLPPAAFGLSFPLGGPAAVAAAAGASLYGASGPFQRAALPVAPVGLYTAHVGYSMY
  HLT

• Sequence length: 303

Pathways

KEGG:

Human T-cell leukemia virus 1 infection

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
Hypoplastic enamel-onycholysis-hypohidrosis syndrome	Pathogenic	rs2108777701, rs1737950636, rs2474113860, rs104893853, rs1553878162, rs1737950187	RCV001934405 RCV001898322 RCV002829092 RCV000016011 RCV000544581 RCV001048347	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MSX1-related disorder	Likely pathogenic; Pathogenic	rs1464389153, rs104893853, rs2474113971	RCV003123243 RCV004532364 RCV004542694	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Pathogenic	rs2108778623	RCV001374733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofacial cleft 5	Pathogenic	rs2108778592, rs28933081	RCV001771824 RCV000016013	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tooth agenesis, selective, 1	Pathogenic	rs515726227, rs121913129, rs104893852, rs104893850, rs121913130, rs1553877821, rs761710147, rs2474111547	RCV000157079 RCV000016008 RCV000016009 RCV000016010 RCV000016015 RCV000016016 RCV004577939 RCV004577940	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANODONTIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP AND CLEFT OF ALVEOLAR PROCESS OF MAXILLA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE WITH CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AND NAIL SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WITKOP SYNDROME	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLF-HIRSCHHORN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	8661097		★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	8661097	Associate	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	29134539		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18379900		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	22078940, 26406991, 26473286		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30124448, 34697589, 37549144	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28153781		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	12097313, 12733956, 16498076, 16723652, 18790474, 19346736, 19776500, 21111400, 22581971, 23227268, 23549991, 23718693, 24631698, 25101640, 26030286, 27665865, 28910570, 29034883, 29893310, 30134957, 30192788, 31781599, 31914153, 33419968, 35247841, 36017684, 36672972	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia of Permanent Dentition	Anodontia	Pubtator	19346736	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anonychia congenita	Anonychia	Pubtator	34099859	Associate	★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 1	Atelosteogenesis	Pubtator	15029481	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	23708191		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	23708191, 31712678		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23708191		★☆☆☆☆ Found in Text Mining only
Bamforth syndrome	Bamforth-Lazarus syndrome	BEFREE	21177256		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	29134539		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	29134539	Associate	★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	31221479		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20638926, 29436596		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24631698, 30696738	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	32630554	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22143938	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26763252		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30127625		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30127625		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19430199		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28537673		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	12733956, 16327884, 17326252, 20087401, 23580168, 24748298, 29034883, 9683588	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	11332647, 15965987, 16723652, 16868654, 18177186, 20087401, 20572854, 23580168, 25953455, 27228008, 29341488		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	16723652, 17326252, 21740177, 23580168, 24738728, 27369588, 31262291, 35110662, 9683588	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	28537673	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18499550, 27966796, 30733598		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35169223	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital abnormality of Eustachian tube	Congenital Abnormality Of Eustachian Tube	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	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	25587870		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	26556783		★☆☆☆☆ Found in Text Mining only
Craniofacial Dysostosis	Craniofacial Dysostosis	BEFREE	31068123		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20060954		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	12598542, 21111400, 27491081, 28040065		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental absence of tooth	Anodontia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	26556783	Associate	★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	21980133	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	29034883	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia 1 Anhidrotic	Ectodermal dysplasia	Pubtator	26759063	Associate	★☆☆☆☆ Found in Text Mining only
Ellis Van Creveld Syndrome	Ellis-van creveld syndrome	Pubtator	8661097	Associate	★☆☆☆☆ Found in Text Mining only
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	BEFREE	8882877		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32630554, 36575819, 37101223, 38115305	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34697589	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26763252		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	18201699		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26271668		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26271668	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26271668		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	25587870, 26556783, 33463545	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	31712678	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	22078940, 26406991, 26473286		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	26406991, 26473286	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15029481		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	15029481		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	15029481	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	10861665, 11005730, 11407892, 12490878, 12733956, 14630905, 15264286, 15615874, 16498076, 16682758, 16918677, 16932841, 17552940, 17697174, 17910065, 18374898, 18771513, 19346736, 19776500, 21098475, 21448236, 21626677, 22297032, 23317772, 23731659, 23964635, 24222224, 24329876, 24914010, 25101640, 25377791, 25501212, 27365112, 27485761, 28040065, 30134957, 30192788, 31469409, 31781599, 7649547, 7914451		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	CLINVAR_DG	24914010, 8696335		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia and nail dysgenesis	Hypodontia And Nail Dysgenesis	ORPHANET_DG	11369996		★☆☆☆☆ Found in Text Mining only
Hypodontia-dysplasia of nails syndrome	Hypodontia And Nail Dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic enamel-onycholysis-hypohidrosis syndrome	Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome	BEFREE	11369996		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome	Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome	ORPHANET_DG	11369996		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome	Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome	GENOMICS_ENGLAND_DG	11369996		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome	Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome	Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infertility	Infertility	Pubtator	27312535	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19430199		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19430199	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24237447		★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	24237447		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20638926, 29436596		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26763252		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25982683		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24237447, 26406991, 26763252, 27966796, 29134539, 29273143, 29436596		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30127625		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29436596		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	24237447		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28927893, 29273143		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29273143	Associate	★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21980133		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	21980133	Inhibit	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	BEFREE	27381090		★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	BEFREE	27381090		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	21980133	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17959889, 21387540, 21980133, 28977998, 29134539, 29436596, 30127625, 30733598		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	21387540		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18201699, 19815336, 31480262		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31480262	Associate	★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CTD_human_DG	27356075		★☆☆☆☆ Found in Text Mining only
Odontome	Odontome	CTD_human_DG	14630905		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	11005730, 14630905, 15615874, 16498076, 16682758, 16918677, 16932841, 17552940, 17697174, 17910065, 18374898, 19346736, 21098475, 21448236, 21626677, 23317772, 23731659, 24222224, 24329876, 24914010, 25101640, 25377791, 27485761, 30134957, 30192788, 31469409, 7914451		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Oligodontia	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Oligodontia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oral cleft	Oral cleft	BEFREE	17326252, 21448236, 21866112		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	16687911, 16723652, 17326252, 23718693, 23903689, 24748298, 27369588, 27456059, 28232668, 35247841, 9683588	Associate	★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	20572854, 20635363, 21972896		★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 5	Orofacial Cleft	UNIPROT_DG	12807959		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OROFACIAL CLEFT 5	Orofacial Cleft	GENOMICS_ENGLAND_DG	15354328, 25565750		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OROFACIAL CLEFT 5	Orofacial Cleft	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OROFACIAL CLEFT 5	Orofacial Cleft	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20060954	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	20942943	Associate	★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	23708191		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26763252		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26763252	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19922584		★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	27259221		★☆☆☆☆ Found in Text Mining only
Pitt-Rogers-Danks Syndrome	Pitt-Rogers-Danks Syndrome	CTD_human_DG	14630905		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	24844359, 28151996, 28977998		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	BEFREE	26463473		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25982683		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16367923, 25982683	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	BEFREE	9482651		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	31143370		★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	29034883	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth Agenesis Selective 4	Tooth agenesis	Pubtator	36672972	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Familial	Tooth Agenesis	UNIPROT_DG	12097313, 8696335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth Agenesis, Familial	Tooth Agenesis	BEFREE	17552940, 28732179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth Agenesis, Familial	Tooth Agenesis	GENOMICS_ENGLAND_DG	25565750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth Agenesis, Familial	Tooth Agenesis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth Agenesis, Familial	Tooth Agenesis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth Diseases	Tooth disease	Pubtator	19346736	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	11332647, 11454503, 12163415, 12651933, 12807959, 14755461, 16313398, 17326252, 18499550, 19934017, 21177256, 21689018, 23231047, 7914451, 9988882		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37988196	Stimulate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	39341975	Associate	★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	BEFREE	14630905, 1969845, 27259221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	CTD_human_DG	14630905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations