WNT10A (Wnt family member 10A)

Gene

• Entrez ID: 80326
• Gene name: Wnt family member 10A
• Gene symbol: WNT10A
• Synonyms (NCBI Gene): ECTD16, OODD, SSPS, STHAG4
• Chromosome: 2
• Chromosome location: 2q35
• Summary: The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryog

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34972707	A>C	Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs77583146	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, missense variant
rs116998555	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, coding sequence variant, missense variant
rs121908118	G>A,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs121908120	T>A	Conflicting-interpretations-of-pathogenicity, benign, pathogenic, likely-benign	Intron variant, coding sequence variant, missense variant
rs121908121	G>A	Likely-pathogenic, not-provided, pathogenic	Intron variant, coding sequence variant, missense variant
rs121908122	C>A	Pathogenic	Stop gained, coding sequence variant, missense variant
rs146902156	G>A	Likely-benign, not-provided, pathogenic	Missense variant, coding sequence variant, intron variant
rs147680216	G>A	Likely-benign, pathogenic, benign, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs372993798	G>A,T	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs750260671	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs762739726	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs775380022	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs775990266	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs886039453	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs886039454	C>G	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs886041618	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1011303295	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs1057520655	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1060499588	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1085308031	G>A	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1268725013	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1553623281	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553623389	C>A	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1575233692	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575235227	G>A	Pathogenic	Synonymous variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053636	hsa-miR-130a-3p	Microarray	22942087
MIRT533154	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT533153	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT533152	hsa-miR-5685	PAR-CLIP	22012620
MIRT533151	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT533150	hsa-miR-4539	PAR-CLIP	22012620
MIRT533149	hsa-miR-1285-3p	PAR-CLIP	22012620
MIRT533148	hsa-miR-3187-5p	PAR-CLIP	22012620
MIRT533147	hsa-miR-5189-5p	PAR-CLIP	22012620
MIRT533146	hsa-miR-612	PAR-CLIP	22012620
MIRT533145	hsa-miR-6860	PAR-CLIP	22012620
MIRT533144	hsa-miR-4486	PAR-CLIP	22012620
MIRT533143	hsa-miR-378g	PAR-CLIP	22012620
MIRT533142	hsa-miR-3120-5p	PAR-CLIP	22012620
MIRT533141	hsa-miR-27a-5p	PAR-CLIP	22012620
MIRT533140	hsa-miR-203b-3p	PAR-CLIP	22012620
MIRT533139	hsa-miR-1231	PAR-CLIP	22012620
MIRT726098	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT726097	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT736197	hsa-miR-378a-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	27832641
MIRT736197	hsa-miR-378a-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	27832641
MIRT533151	hsa-miR-361-3p	HITS-CLIP	28735896
MIRT533153	hsa-miR-4690-3p	HITS-CLIP	28735896
MIRT533152	hsa-miR-5685	HITS-CLIP	28735896
MIRT736197	hsa-miR-378a-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	32829178
MIRT533151	hsa-miR-361-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33299350
MIRT533154	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT533153	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT533152	hsa-miR-5685	PAR-CLIP	22012620
MIRT533151	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT533150	hsa-miR-4539	PAR-CLIP	22012620
MIRT533149	hsa-miR-1285-3p	PAR-CLIP	22012620
MIRT533148	hsa-miR-3187-5p	PAR-CLIP	22012620
MIRT533147	hsa-miR-5189-5p	PAR-CLIP	22012620
MIRT533146	hsa-miR-612	PAR-CLIP	22012620
MIRT533145	hsa-miR-6860	PAR-CLIP	22012620
MIRT533144	hsa-miR-4486	PAR-CLIP	22012620
MIRT533143	hsa-miR-378g	PAR-CLIP	22012620
MIRT533142	hsa-miR-3120-5p	PAR-CLIP	22012620
MIRT533141	hsa-miR-27a-5p	PAR-CLIP	22012620
MIRT533140	hsa-miR-203b-3p	PAR-CLIP	22012620
MIRT533139	hsa-miR-1231	PAR-CLIP	22012620
MIRT755397	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR	35958896
MIRT1493547	hsa-miR-2392	CLIP-seq
MIRT1493548	hsa-miR-4494	CLIP-seq
MIRT1493549	hsa-miR-4499	CLIP-seq
MIRT1493550	hsa-miR-4513	CLIP-seq
MIRT1493551	hsa-miR-451b	CLIP-seq
MIRT1493552	hsa-miR-4534	CLIP-seq
MIRT1493553	hsa-miR-4641	CLIP-seq
MIRT2148778	hsa-miR-3165	CLIP-seq
MIRT2148779	hsa-miR-3179	CLIP-seq
MIRT2148780	hsa-miR-4695-5p	CLIP-seq
MIRT2148781	hsa-miR-4790-3p	CLIP-seq
MIRT2148782	hsa-miR-765	CLIP-seq
MIRT2463526	hsa-miR-3183	CLIP-seq
MIRT2463527	hsa-miR-4723-3p	CLIP-seq
MIRT2463528	hsa-miR-500a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001942	Process	Hair follicle development	IMP	17847007, 19559398
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005109	Function	Frizzled binding	IBA
GO:0005125	Function	Cytokine activity	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014033	Process	Neural crest cell differentiation	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0031069	Process	Hair follicle morphogenesis	IMP	20163410
GO:0042476	Process	Odontogenesis	IMP	17847007, 19559398
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0043586	Process	Tongue development	IMP	17847007, 19559398
GO:0043588	Process	Skin development	IMP	17847007, 19559398
GO:0045165	Process	Cell fate commitment	IBA
GO:0048018	Function	Receptor ligand activity	IDA	28733458
GO:0048513	Process	Animal organ development	IEA
GO:0048730	Process	Epidermis morphogenesis	IMP	20163410
GO:0048733	Process	Sebaceous gland development	IMP	19559398
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	28733458
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEP	15040835

Other IDs

• MIM: 606268
• HGNC: 13829
• e!Ensembl: ENSG00000135925

Protein

• UniProt ID: Q9GZT5
• Protein name: Protein Wnt-10a
• Protein function: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00110	wnt	63 → 417	wnt family	Family

• Sequence:

  MGSAHPRPWLRLRPQPQPRPALWVLLFFLLLLAAAMPRSAPNDILDLRLPPEPVLNANTV
  CLTLPGLSRRQMEVCVRHPDVAASAIQGIQIAIHECQHQFRDQRWNCSSLETRNKIPYES
  PIFSRGFRESAFAYAIAAAGVVHAVSNACALGKLKACGCDASRRGDEEAFRRKLHRLQLD
  ALQRGKGLSHGVPEHPALPTASPGLQDSWEWGGCSPDMGFGERFSKDFLDSREPHRDIHA
  RMRLHNNRVGRQAVMENMRRKCKCHGTSGSCQLKTCWQVTPEFRTVGALLRSRFHRATLI
  RPHNRNGGQLEPGPAGAPSPAPGAPGPRRRASPADLVYFEKSPDFCEREPRLDSAGTVGR
  LCNKSSAGSDGCGSMCCGRGHNILRQTRSERCHCRFHWCCFVVCEECRITEWVSVCK

• Sequence length: 417

Pathways

KEGG:

mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

WNT ligand biogenesis and trafficking

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
Ectodermal dysplasia	Likely pathogenic; Pathogenic	rs121908119	RCV001729335	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal dysplasia WNT10A related	Likely pathogenic; Pathogenic	rs121908119	RCV006249547	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Odonto-onycho-dermal dysplasia	Likely pathogenic; Pathogenic	rs746813123, rs2106010718, rs2106011673, rs886055642, rs561173643, rs2106016170, rs2106016375, rs2106018205, rs2106018239, rs1559416138, rs2106018397, rs1203128182, rs2106018559, rs2106018717, rs1944675271, rs2106016293, rs2106011732, rs1221516695, rs1306584103, rs1249944381, rs2106018668, rs781237311, rs2106016227, rs2469037358, rs572942384, rs121908118, rs121908119, rs121908121, rs121908122, rs121908123, rs111314129, rs756946393, rs968817879, rs1220645831, rs2469037478, rs2470312895, rs2470313345, rs373870453, rs2469037169, rs2470312303, rs2470312717, rs2469037164, rs372993798, rs886039453, rs886039454, rs2469037540, rs750190755, rs777307167, rs530717943, rs761182689, rs1559414928, rs2470301392, rs2470312288, rs2470301204, rs915439029, rs763506612, rs2469037138, rs2470301479, rs749297006, rs1575233692, rs2470312297, rs2469037067, rs2470303448, rs2470301384, rs750260671, rs1060499588, rs1085308031, rs1268725013, rs543063101, rs762739726, rs764658964, rs1434390821, rs1553623281, rs775990266, rs1553623389, rs1011303295, rs1371718238, rs318240759, rs1575235227, rs1944636041, rs773036759, rs1944671913, rs893127185, rs1944637150, rs1156948793, rs377416834, rs561503117, rs1332945612, rs1944678383	RCV001378317 RCV001390604 RCV001382583 RCV001388708 RCV001388812 RCV001386230 RCV001382570 RCV001387650 RCV001389202 RCV001386374 RCV001389023 RCV001384812 RCV001387962 RCV001910237 RCV001910291 RCV001923484 RCV002037900 RCV001963872 RCV002002481 RCV002005566 RCV001956186 RCV001901602 RCV001929713 RCV003051281 RCV003075306 RCV000004714 RCV000004715 RCV000004718 RCV000004719 RCV000004720 RCV002580474 RCV002590808 RCV002681329 RCV002889159 RCV002898625 RCV002894342 RCV002877108 RCV002937282 RCV002979218 RCV002994875 RCV003048075 RCV003056185 RCV000804067 RCV000677100 RCV001855007 RCV003323311 RCV003777343 RCV003327602 RCV005419614 RCV003777344 RCV003780037 RCV003780038 RCV003792702 RCV003806984 RCV003791517 RCV003804038 RCV003804194 RCV003804248 RCV003799669 RCV003801220 RCV003809292 RCV003810061 RCV003812882 RCV003802505 RCV004577640 RCV001232141 RCV000477883 RCV005355978 RCV001379319 RCV000525525 RCV000551493 RCV000639735 RCV000639737 RCV000677101 RCV000677103 RCV000677099 RCV000677102 RCV000686716 RCV000792132 RCV000818549 RCV000811807 RCV000995914 RCV001044079 RCV001044035 RCV001047325 RCV001069353 RCV001194666 RCV001211943 RCV001204324 RCV001205643 RCV001228664 RCV001241317	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
	Likely pathogenic; Pathogenic	rs2106018205, rs1234227647, rs1221516695, rs1249944381, rs121908119, rs121908121, rs372993798, rs886039453, rs886039454, rs1060499588, rs1085308031, rs543063101, rs762739726, rs764658964, rs1434390821, rs775990266, rs1011303295, rs1575233692, rs318240759, rs773036759, rs561503117	RCV005014540 RCV005606957 RCV005025545 RCV005017009 RCV000004716 RCV005016239 RCV001814131 RCV001275115 RCV002503967 RCV000477883 RCV005355978 RCV001275114 RCV000763071 RCV005019061 RCV001835029 RCV005628840 RCV005606701 RCV002507361 RCV001275113 RCV002497378 RCV001828648	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tooth agenesis, selective, 4	Likely pathogenic; Pathogenic	rs746813123, rs2106010718, rs2106011673, rs886055642, rs561173643, rs2106016170, rs2106016375, rs2106018205, rs2106018239, rs1559416138, rs2106018397, rs1203128182, rs2106018559, rs2106018717, rs1944675271, rs2106016293, rs2106011732, rs1221516695, rs1306584103, rs1249944381, rs2106018668, rs781237311, rs2106016227, rs2469036249, rs1559412676, rs2469037358, rs572942384, rs121908118, rs121908119, rs121908121, rs121908122, rs111314129, rs756946393, rs968817879, rs1220645831, rs2469037478, rs2470312895, rs2470313345, rs373870453, rs2469037169, rs2470312303, rs2470312717, rs2469037164, rs372993798, rs886039453, rs886039454, rs1197751092, rs750190755, rs777307167, rs530717943, rs761182689, rs1559414928, rs2470301392, rs2470312288, rs2470301204, rs915439029, rs763506612, rs2469037138, rs2470301479, rs749297006, rs1575233692, rs2470312297, rs2469037067, rs2470303448, rs750260671, rs1060499588, rs1085308031, rs1268725013, rs543063101, rs762739726, rs764658964, rs1434390821, rs775990266, rs1371718238, rs318240759, rs1944636041, rs773036759, rs1944671913, rs893127185, rs1156948793, rs377416834, rs561503117, rs1332945612, rs1944678383	RCV001378317 RCV001390604 RCV001382583 RCV001388708 RCV001388812 RCV001386230 RCV001382570 RCV001387650 RCV001389202 RCV001386374 RCV001389023 RCV001384812 RCV001387962 RCV001910237 RCV001910291 RCV001923484 RCV002037900 RCV001963872 RCV002002481 RCV002005566 RCV001956186 RCV001901602 RCV001929713 RCV002286330 RCV002510236 RCV003051281 RCV003075306 RCV001851651 RCV000030650 RCV000030651 RCV003764526 RCV002580474 RCV002590808 RCV002681329 RCV002889159 RCV002898625 RCV002894342 RCV002877108 RCV002937282 RCV002979218 RCV002994875 RCV003048075 RCV003056185 RCV000804067 RCV000823047 RCV001855007 RCV003323310 RCV003323312 RCV003323313 RCV003324106 RCV003324107 RCV003780037 RCV003780038 RCV003792702 RCV003806984 RCV003791517 RCV003804038 RCV003804194 RCV003804248 RCV003799669 RCV003801220 RCV003809292 RCV003810061 RCV003812882 RCV003802505 RCV001232141 RCV000477883 RCV005355978 RCV001379319 RCV000525525 RCV000551493 RCV000639735 RCV000639737 RCV001868287 RCV000686716 RCV000792132 RCV000818549 RCV000811807 RCV001044079 RCV001044035 RCV001047325 RCV001069353 RCV001211943 RCV001204324 RCV001205643 RCV001228664 RCV001241317	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WNT10A-related disorder	Likely pathogenic; Pathogenic	rs121908119, rs886039453, rs2470312725, rs318240759	RCV000779308 RCV004535236 RCV004539484 RCV004542736	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the dentition	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthralgia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypohidrotic ectodermal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Palmoplantar keratoderma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHOPF-SCHULZ-PASSARGE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Selective tooth agenesis	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stiff skin	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth agenesis	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog, GenCC Disgenet, GWAS catalog, GenCC Disgenet, GWAS catalog, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tooth agenesis, selective, 2	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne Vulgaris	Acne	GWASCAT_DG	30542056		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	21547848		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	35537890	Associate	★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	24352509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	20979233, 21771270		★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	19471313, 22581971, 23227268, 23991204, 24312213, 24631698, 24700731, 26964878, 27049303, 27665865, 27881089, 28813618, 28944914, 30046887, 31652981, 31914153, 35537890, 36017684, 37005710, 38280992	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	Pubtator	26964878	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	BEFREE	30569517		★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apocrine adenoma	Apocrine Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apocrine cystadenoma	Apocrine Cystadenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34118813	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	11605000		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23372744	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	36605938	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17767013, 24631698	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23094073	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23094073	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29163692		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	39831920	Stimulate	★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	20979233, 21771270, 24312213, 31796081		★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	29356097		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11605000, 30881490		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	20979233		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23094073, 30881490		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	28944914	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive	Deafness	Pubtator	30046887	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 98	Deafness	BEFREE	30046887		★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	22581971, 24043634, 24449199, 27650966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental absence of tooth	Anodontia	GWASCAT_DG	29364747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dry Eye Syndromes	Dry eye syndrome	Pubtator	19471313	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	17847007, 19559398, 24043634, 24700731, 25356970, 28105635		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	17847007		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	17847007, 19559398, 24700731, 26964878, 27049303, 27881089, 28944914, 30974434, 31796081, 34118813, 36421794	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	19559398, 20979233, 21834823, 23401279, 24700731, 24702986, 24902757, 28589954, 28944914, 29271000		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia 1 Anhidrotic	Ectodermal dysplasia	Pubtator	24312213, 38280992	Associate	★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	24312213, 31310406, 31796081		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	24312213, 31310406, 31796081		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	24312213, 31310406, 31796081		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	24312213, 31310406, 31796081		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Ectodermal dysplasia	Pubtator	30974434	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	Ectodermal dysplasia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23135473		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	11605000		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	11605000		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27832641		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	37566620	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhidrosis Palmaris Et Plantaris	Hyperhidrosis Palmaris Et Plantaris	BEFREE	24458874		★☆☆☆☆ Found in Text Mining only
Hyperhidrosis Palmaris Et Plantaris	Hyperhidrosis Palmaris Et Plantaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	19471313, 19559398, 21484994, 22581971, 23401279, 23991204, 24312213, 24449199, 24458874, 24487376, 24798981, 26387593, 27050986, 27650966, 28105635, 29178643, 30426266, 30809714, 31103801		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	GWASCAT_DG	29364747		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia Oligodontia with Orofacial Cleft	Hypodontia Oligodontia With Orofacial Cleft	GWASCAT_DG	29364747		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	28944914		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	28944914	Associate	★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39519277	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33090383	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	26049155		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	26049155, 33988693	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23094073		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25054240	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	17767013, 37885041	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30535384		★☆☆☆☆ Found in Text Mining only
Lymphoma, Lymphocytic, Intermediate	Lymphoma, Lymphocytic, Intermediate	CTD_human_DG	18787224		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	18787224		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	CTD_human_DG	18787224		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23135473		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	11605000		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29163692		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11494032, 11605000		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11605000, 23135473, 25795715		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	BEFREE	21484994		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 2	Microphthalmia	Pubtator	30046887	Associate	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21874048, 25054240, 27771714, 30911276		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	25054240	Associate	★☆☆☆☆ Found in Text Mining only
Odonto-onycho-dermal dysplasia	Odontoonychodermal dysplasia	BEFREE	17847007, 19471313, 21484994, 24458874, 24700731, 28105635, 30569517		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Odonto-onycho-dermal dysplasia	Odontoonychodermal dysplasia	ORPHANET_DG	17847007, 24458874		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Odonto-onycho-dermal dysplasia	Odontoonychodermal dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Odontoonychodermal dysplasia	Odontoonychodermal dysplasia	UNIPROT_DG	17847007, 19471313, 19559398, 24458874, 28589954		★☆☆☆☆ Found in Text Mining only
Odontoonychodermal dysplasia	Odontoonychodermal dysplasia	ORPHANET_DG	17847007, 24458874		★☆☆☆☆ Found in Text Mining only
Odontoonychodermal dysplasia	Odontoonychodermal dysplasia	CLINVAR_DG	19471313, 19559398, 20163410, 20979233, 21143469, 22670871, 23167694, 24398796, 24702986, 24902757, 25545742, 25629078, 28981473		★☆☆☆☆ Found in Text Mining only
Odontoonychodermal dysplasia	Odontoonychodermal dysplasia	BEFREE	19559398, 24398796, 30569517		★☆☆☆☆ Found in Text Mining only
Odontoonychodermal dysplasia	Odontoonychodermal dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Odontoonychodermal dysplasia	Odontoonychodermal dysplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	19559398, 23401279, 24312213, 24449199, 24487376, 26387593, 27650966, 28105635, 29178643, 30426266, 30809714, 31103801		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	GWASCAT_DG	29364747		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	BEFREE	24957471, 31155400		★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	23864140		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30315998		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29163692		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28677753		★☆☆☆☆ Found in Text Mining only
Poroma	Poroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31541181		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23094073, 30881490		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	25054240		★☆☆☆☆ Found in Text Mining only
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)	Schopf-Schulz-Passarge Syndrome	BEFREE	19559398, 21834823, 24312213, 24398796, 24902757, 28105635, 29271000		★☆☆☆☆ Found in Text Mining only
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)	Schopf-Schulz-Passarge Syndrome	ORPHANET_DG	19559398		★☆☆☆☆ Found in Text Mining only
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)	Schopf-Schulz-Passarge Syndrome	UNIPROT_DG	19559398, 21143469		★☆☆☆☆ Found in Text Mining only
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)	Schopf-Schulz-Passarge Syndrome	CLINVAR_DG	19559398, 23167694, 24398796, 24702986, 24902757, 25629078		★☆☆☆☆ Found in Text Mining only
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)	Schopf-Schulz-Passarge Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)	Schopf-Schulz-Passarge Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
	Schopf-Schulz-Passarge Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Scoliosis	Scoliosis	Pubtator	34440365	Associate	★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	28944914	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	19559398		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	19559398	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25795715		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11494032, 11605000		★☆☆☆☆ Found in Text Mining only
Succedaneous Teeth, Agenesis Of	Tooth agenesis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	37208504	Inhibit	★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	19559398	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Agenesis Selective 4	Tooth agenesis	Pubtator	24700731, 30046887	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Familial	Tooth Agenesis	GWASCAT_DG	29364747		★☆☆☆☆ Found in Text Mining only
TOOTH AGENESIS, SELECTIVE, 4 (disorder)	Tooth Agenesis	CLINVAR_DG	19471313, 19559398, 20163410, 20979233, 21143469, 22670871, 23167694, 24398796, 24702986, 24902757, 25545742, 25629078, 28981473		★☆☆☆☆ Found in Text Mining only
TOOTH AGENESIS, SELECTIVE, 4 (disorder)	Tooth Agenesis	UNIPROT_DG	20979233, 21484994, 22581971, 23401279, 24311251, 24449199, 27657131, 29178643		★☆☆☆☆ Found in Text Mining only
TOOTH AGENESIS, SELECTIVE, 4 (disorder)	Tooth Agenesis	BEFREE	30046887		★☆☆☆☆ Found in Text Mining only
TOOTH AGENESIS, SELECTIVE, 4 (disorder)	Tooth Agenesis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
TOOTH AGENESIS, SELECTIVE, 9	Tooth Agenesis	GWASCAT_DG	29364747		★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Selective, With Orofacial Cleft	Tooth Agenesis	GWASCAT_DG	29364747		★☆☆☆☆ Found in Text Mining only
Tooth development and eruption disorder	Tooth Development And Eruption Disorder	GWASCAT_DG	29364747		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	29356097, 31155400		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26722457	Associate	★☆☆☆☆ Found in Text Mining only
Witkop syndrome	Witkop syndrome	Pubtator	19559398	Associate	★☆☆☆☆ Found in Text Mining only
Zlotogora-Ogur syndrome	Cleft lip/palate-ectodermal dysplasia syndrome	BEFREE	17847007, 24458874		★☆☆☆☆ Found in Text Mining only