Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57822
Gene name	Grainyhead like transcription factor 3
Gene symbol	GRHL3
Synonyms (NCBI Gene)	SOMTFCP2L4VWS2
Chromosome	1
Chromosome location	1p36.11
Summary	This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encod

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs752673677	G>A	Pathogenic	Coding sequence variant, missense variant
rs770938921	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs797044857	C>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs879255243	GGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs879255244	G>T	Pathogenic	Splice donor variant
rs879255245	C>T	Pathogenic	Missense variant, coding sequence variant
rs879255573	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs886037767	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs886037768	G>T	Pathogenic	Splice donor variant
rs886037769	->C	Pathogenic	Frameshift variant, coding sequence variant
rs886037770	T>-	Pathogenic	Splice donor variant
rs1553172687	G>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017699	hsa-miR-335-5p	Microarray	18185580
MIRT1034113	hsa-miR-1266	CLIP-seq
MIRT1034114	hsa-miR-1297	CLIP-seq
MIRT1034115	hsa-miR-1305	CLIP-seq
MIRT1034116	hsa-miR-147	CLIP-seq
MIRT1034117	hsa-miR-1827	CLIP-seq
MIRT1034118	hsa-miR-185	CLIP-seq
MIRT1034119	hsa-miR-194	CLIP-seq
MIRT1034120	hsa-miR-26a	CLIP-seq
MIRT1034121	hsa-miR-26b	CLIP-seq
MIRT1034122	hsa-miR-335	CLIP-seq
MIRT1034123	hsa-miR-3910	CLIP-seq
MIRT1034124	hsa-miR-3911	CLIP-seq
MIRT1034125	hsa-miR-4270	CLIP-seq
MIRT1034126	hsa-miR-4306	CLIP-seq
MIRT1034127	hsa-miR-4441	CLIP-seq
MIRT1034128	hsa-miR-4465	CLIP-seq
MIRT1034129	hsa-miR-4491	CLIP-seq
MIRT1034130	hsa-miR-4518	CLIP-seq
MIRT1034131	hsa-miR-4644	CLIP-seq
MIRT1034132	hsa-miR-4649-3p	CLIP-seq
MIRT1034133	hsa-miR-4657	CLIP-seq
MIRT1034134	hsa-miR-4747-5p	CLIP-seq
MIRT1034135	hsa-miR-498	CLIP-seq
MIRT1034136	hsa-miR-642a	CLIP-seq
MIRT1034137	hsa-miR-644	CLIP-seq
MIRT1034138	hsa-miR-802	CLIP-seq
MIRT1034139	hsa-miR-1207-5p	CLIP-seq
MIRT1034140	hsa-miR-1236	CLIP-seq
MIRT1034113	hsa-miR-1266	CLIP-seq
MIRT1034114	hsa-miR-1297	CLIP-seq
MIRT1034116	hsa-miR-147	CLIP-seq
MIRT1034117	hsa-miR-1827	CLIP-seq
MIRT1034118	hsa-miR-185	CLIP-seq
MIRT1034119	hsa-miR-194	CLIP-seq
MIRT1034120	hsa-miR-26a	CLIP-seq
MIRT1034121	hsa-miR-26b	CLIP-seq
MIRT1034141	hsa-miR-3127-5p	CLIP-seq
MIRT1034142	hsa-miR-3612	CLIP-seq
MIRT1034123	hsa-miR-3910	CLIP-seq
MIRT1034125	hsa-miR-4270	CLIP-seq
MIRT1034126	hsa-miR-4306	CLIP-seq
MIRT1034143	hsa-miR-4420	CLIP-seq
MIRT1034144	hsa-miR-4427	CLIP-seq
MIRT1034127	hsa-miR-4441	CLIP-seq
MIRT1034128	hsa-miR-4465	CLIP-seq
MIRT1034145	hsa-miR-4468	CLIP-seq
MIRT1034129	hsa-miR-4491	CLIP-seq
MIRT1034130	hsa-miR-4518	CLIP-seq
MIRT1034131	hsa-miR-4644	CLIP-seq
MIRT1034132	hsa-miR-4649-3p	CLIP-seq
MIRT1034133	hsa-miR-4657	CLIP-seq
MIRT1034146	hsa-miR-4711-5p	CLIP-seq
MIRT1034147	hsa-miR-4736	CLIP-seq
MIRT1034134	hsa-miR-4747-5p	CLIP-seq
MIRT1034148	hsa-miR-4763-3p	CLIP-seq
MIRT1034135	hsa-miR-498	CLIP-seq
MIRT1034136	hsa-miR-642a	CLIP-seq
MIRT1034149	hsa-miR-650	CLIP-seq
MIRT1034138	hsa-miR-802	CLIP-seq
MIRT2006735	hsa-miR-1539	CLIP-seq
MIRT2006736	hsa-miR-3193	CLIP-seq
MIRT1034114	hsa-miR-1297	CLIP-seq
MIRT2239098	hsa-miR-132	CLIP-seq
MIRT2239099	hsa-miR-212	CLIP-seq
MIRT1034120	hsa-miR-26a	CLIP-seq
MIRT1034121	hsa-miR-26b	CLIP-seq
MIRT2239100	hsa-miR-3132	CLIP-seq
MIRT2239101	hsa-miR-3182	CLIP-seq
MIRT2239102	hsa-miR-4314	CLIP-seq
MIRT1034128	hsa-miR-4465	CLIP-seq
MIRT1034135	hsa-miR-498	CLIP-seq
MIRT1034138	hsa-miR-802	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	23685552
GO:0001736	Process	Establishment of planar polarity	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	23455924, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21081122
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007398	Process	Ectoderm development	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0008544	Process	Epidermis development	ISS
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0031490	Function	Chromatin DNA binding	IDA	21081122
GO:0032956	Process	Regulation of actin cytoskeleton organization	IGI	20643356
GO:0042060	Process	Wound healing	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23685552
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0061029	Process	Eyelid development in camera-type eye	IEA
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA

MIM	HGNC	e!Ensembl
608317	25839	ENSG00000158055

Q8TE85

Protein name

Grainyhead-like protein 3 homolog (Sister of mammalian grainyhead) (Transcription factor CP2-like 4)

Protein function

Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting a

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04516	CP2	213 → 421	CP2 transcription factor	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, colon, pancreas, placenta and kidney. Isoform 1 is expressed in lung and tonsil. Isoform 2 is prostate-specific. {ECO:0000269|PubMed:12549979}.

Sequence

MSNELDFRSVRLLKNDPVNLQKFSYTSEDEAWKTYLENPLTAATKAMMRVNGDDDSVAAL
SFLYDYYMGPKEKRILSSSTGGRNDQGKRYYHGMEYETDLTPLESPTHLMKFLTENVSGT
PEYPDLLKKNNLMSLEGALPTPGKAAPLPAGPSKLEAGSVDSYLLPTTDMYDNGSLNSLF
ESIHGVPPTQRWQPDSTFKDDPQESMLFPDILKTSPEPPCPEDYPSLKSDFEYTLGSPKA
IHIKSGESPMAYLNKGQFYPVTLRTPAGGKGLALSSNKVKSVVMVVFDNEKVPVEQLRFW
KHWHSRQPTAKQRVIDVADCKENFNTVEHIEEVAYNALSFVWNVNEEAKVFIGVNCLSTD
FSSQKGVKGVPLNLQIDTYDCGLGTERLVHRAVCQIKIFCDKGAERKMRDDERKQFRRKV
KCPDSSNSGVKGCLLSGFRGNETTYLRPETDLETPPVLFIPNVHFSSLQRSGGAAPSAGP
SSSNRLPLKRTCSPFTEEFEPLPSKQAKEGDLQRVLLYVRRETEEVFDALMLKTPDLKGL
RNAISEKYGFPEENIYKVYKKCKRGETSLLHPRLSRHPPPDCLECSHPVTQVRNMGFGDG
FWRQRDLDSNPSPTTVNSLHFTVNSE

Sequence length

626

Interactions

View interactions

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
GRHL3-related disorder	Likely pathogenic	rs2522621962	RCV003979740	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated cleft palate	Likely pathogenic; Pathogenic	rs2148651821, rs1315515436, rs886037768, rs886037769, rs886037770	RCV001847296 RCV001847298 RCV001847915 RCV001847916 RCV001847917	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome 2	Pathogenic; Likely pathogenic	rs879255244, rs879255573, rs879255243, rs752673677, rs879255245, rs2522582333, rs2522646617, rs2522608482, rs1553172687	RCV001380488 RCV000087749 RCV000087750 RCV000087751 RCV000087752 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIFID UVULA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT OF HARD PALATE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE, ISOLATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT SOFT PALATE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van der Woude syndrome	Uncertain significance	ClinVar ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Van der Woude syndrome 1	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (85)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acrania	Acrania	CTD_human_DG	6635991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	26889815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	17083351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	28758857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31275123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31275123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	29906417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Branchio-Oculo-Facial Syndrome	Branchiooculofacial Syndrome	BEFREE	26332872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24363083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	26837418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	27159391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	26889815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	27129939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	27459192, 31172578, 34459660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Soft Palate	Cleft Soft Palate	ORPHANET_DG	27018472, 27018475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Soft Palate	Cleft Soft Palate	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft uvula	Cleft Uvula	ORPHANET_DG	27018472, 27018475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	31332962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital lip pits	Congenital Lip Pits	BEFREE	26332872, 27459192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	6635991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	BEFREE	29242584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30624469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	6635991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	31332962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	30189017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	6635991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	29930282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28735013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31140326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	6635991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	31275123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28714958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	26889815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	30691800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30624469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28674519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	24360809, 28276201, 28886269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23200674, 27159391, 29238073, 29301499, 7723281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	14608380, 23166514, 27324558, 29397878, 29587534, 30189017, 31332962		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	6635991		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	6635991		★★★★★ ★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	28758857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	31669562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial cleft	Orofacial Cleft	BEFREE	24360809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	27018475, 27459192, 34459660, 36901693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical syndrome	Pubtator	36901693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	22614019		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Receptive language delay	Receptive language delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	9416849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30318409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	29702134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	29301499	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	29301499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	28276201, 29397878, 30189017, 31332962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	6635991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	22614019, 29238073, 29702134, 30341279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	31669562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	ORPHANET_DG	27018472, 27018475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft palate	Submucosal cleft palate	ORPHANET_DG	27018472, 27018475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft soft palate	Submucous cleft of soft and hard palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	30624469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	6635991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	29930282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	BEFREE	29930282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24363083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	29930282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	24360809, 27018475, 27459192, 29702134, 31172578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	24360809, 26332872, 26692521, 27018475, 27129939, 27459192, 28697314, 28732181, 28767310		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Van der Woude syndrome	Van Der Woude Syndrome	ORPHANET_DG	24360809		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Van der Woude syndrome	Van Der Woude Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Van der Woude syndrome	Van der woude syndrome	Pubtator	27018475, 27459192, 36901693	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Van der Woude syndrome	Van Der Woude Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VAN DER WOUDE SYNDROME 1	Van der Woude syndrome	GENOMICS_ENGLAND_DG	24360809		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VAN DER WOUDE SYNDROME 1	Van der Woude syndrome	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Van der Woude syndrome 2	Van Der Woude Syndrome	UNIPROT_DG	24360809		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome 2	Van der woude syndrome	Pubtator	36901693	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome 2	Van Der Woude Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome 2	Van Der Woude Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome 2	Van Der Woude Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

GRHL3 (grainyhead like transcription factor 3)