KRT14 (keratin 14)

Gene

• Entrez ID: 3861
• Gene name: Keratin 14
• Gene symbol: KRT14
• Synonyms (NCBI Gene): CK14, EBS1, EBS1A, EBS1B, EBS1C, EBS1D, EBS3, EBS4, K14, NFJ
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskele

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28928893	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs56974573	CCT>-	Pathogenic, not-provided	Inframe deletion, coding sequence variant
rs57121345	T>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57278315	GC>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs57358989	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57364972	A>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58330629	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58380626	A>G	Pathogenic	Missense variant, coding sequence variant
rs58645163	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58762773	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59629244	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59966597	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60090257	C>T	Pathogenic	Stop gained, coding sequence variant
rs60171927	T>C	Pathogenic	Missense variant, coding sequence variant
rs60231560	A>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs60399023	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60725382	A>G,T	Pathogenic, not-provided	Synonymous variant, stop gained, coding sequence variant
rs60831116	G>A,T	Pathogenic, benign, not-provided	Synonymous variant, stop gained, coding sequence variant
rs61027685	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61371557	A>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61664582	C>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs200779504	T>G	Not-provided, pathogenic	Splice acceptor variant
rs267607390	C>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs267607391	G>A	Not-provided, pathogenic	Stop gained, coding sequence variant
rs267607400	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064794983	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555571791	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555571799	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567738332	T>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1597798429	GGAGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023065	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023354	hsa-miR-122-5p	Microarray	17612493
MIRT1101140	hsa-miR-4722-5p	CLIP-seq
MIRT1101141	hsa-miR-4768-3p	CLIP-seq
MIRT1101142	hsa-miR-635	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SMAD7	Repression	15023526
SP1	Repression	22911849

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	7525408
GO:0005515	Function	Protein binding	IPI	10852826, 11684708, 15671067, 15731013, 22705788, 24940650, 27798626, 30021884, 31995743, 32296183, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	11724817
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	11724817, 20346438, 32179842
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005882	Component	Intermediate filament	IDA	10852826
GO:0005882	Component	Intermediate filament	IEA
GO:0008544	Process	Epidermis development	TAS	7525408
GO:0009314	Process	Response to radiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IBA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0042633	Process	Hair cycle	IDA	21916889
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IDA	7679677, 22705788
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045110	Process	Intermediate filament bundle assembly	IMP	11724817
GO:0045178	Component	Basal part of cell	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0071944	Component	Cell periphery	IEA
GO:1990254	Function	Keratin filament binding	IPI	20346438

Other IDs

• MIM: 148066
• HGNC: 6416
• e!Ensembl: ENSG00000186847

Protein

• UniProt ID: P02533
• Protein name: Keratin, type I cytoskeletal 14 (Cytokeratin-14) (CK-14) (Keratin-14) (K14)
• Protein function: The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.
• PDB: 3TNU, 6JFV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00038	Filament	114 → 425	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the corneal epithelium (at protein level) (PubMed:26758872). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stra
• Sequence:

  MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSG
  GACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQ
  NLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTAT
  VDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
  SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRK
  DAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLE
  ETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLE
  GEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN

• Sequence length: 472

Pathways

KEGG:

Estrogen signaling pathway
Staphylococcus aureus infection

Reactome:

Type I hemidesmosome assembly
Keratinization
Formation of the cornified envelope

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 skin	Pathogenic	rs60231560	RCV001814040	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatopathia pigmentosa reticularis	Likely pathogenic; Pathogenic	rs752374133, rs28928893, rs58330629, rs60831116, rs61263401	RCV002249091 RCV002249092 RCV003137528 RCV000015731 RCV002247454	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex	Pathogenic	rs1907395416, rs1907400034, rs1907401835, rs773920224, rs60399023, rs267607389, rs59442925, rs60338701, rs60470268, rs61027685, rs267607406, rs61371557	RCV001352835 RCV001352832 RCV001352831 RCV001352830 RCV000679886 RCV001352833 RCV001352834 RCV001352789 RCV001352937 RCV001352828 RCV001352829 RCV003993782	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex 1A, generalized severe	Pathogenic; Likely pathogenic	rs2144582186, rs2508734157, rs59629244, rs60399023, rs58330629, rs28928893, rs57364972, rs60171927, rs61371557, rs58393329, rs58357841, rs60090257	RCV001775534 RCV003388735 RCV003387723 RCV000015716 RCV000015717 RCV000015723 RCV000015727 RCV000015733 RCV003989195 RCV003338401 RCV001778696 RCV005862961 RCV003989311	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex 1C, localized	Pathogenic; Likely pathogenic	rs57358989, rs58762773, rs56974573, rs61536893, rs58393329, rs58330629	RCV000015724 RCV001731186 RCV000015719 RCV001777147 RCV001823105 RCV005862961	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	Pathogenic; Likely pathogenic	rs528295894, rs57121345, rs60725382, rs58393329, rs57278315, rs58330629, rs200779504, rs61371557, rs60090257, rs60231560	RCV002052092 RCV000015718 RCV000015720 RCV003338402 RCV000015732 RCV005862961 RCV000015722 RCV005256559 RCV006252605 RCV000015729	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex, Koebner type	Likely pathogenic; Pathogenic	rs59629244, rs60399023, rs61371557, rs58380626, rs61664582, rs61263401, rs58330629, rs58560979	RCV000015715 RCV002243645 RCV000015721 RCV001731185 RCV001778695 RCV001778697 RCV005862961 RCV001807773	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KRT14-related disorder	Pathogenic	rs60399023, rs58330629, rs28928893	RCV003924837 RCV003407339 RCV004754262	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Naegeli-Franceschetti-Jadassohn syndrome	Pathogenic	rs267607390, rs267607391	RCV000015730 RCV000415603	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar blistering	Pathogenic	rs59966597	RCV000626696	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Pathogenic	rs60231560	RCV001291416	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin fragility with non-scarring blistering	Pathogenic	rs59966597	RCV000626696	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX, INTERMEDIATE FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX, SEVERE FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE GENERALIZED EBS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ 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
EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE	—	Disgenet, GenCC, HPO Disgenet, GenCC, HPO Disgenet, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX HERPETIFORMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN-LARSSON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONGUE NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEBER-COCKAYNE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	21791943		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	28152077, 9129700		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	28390135		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	28390135	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	35437049	Associate	★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	20563874	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	29784039	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	17217540	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12165543, 20655706		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	12165543		★☆☆☆☆ Found in Text Mining only
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	Epidermolysis Bullosa Simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant generalized epidermolysis bullosa simplex, severe form	Epidermolysis Bullosa Simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive generalized epidermolysis bullosa simplex	Epidermolysis Bullosa Simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	19190970		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	19394325		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25728352, 28721490, 28793245, 28911924, 29350066		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	17039244, 1721080, 19847192, 25961909, 32927888, 34643242, 35490743, 7561171, 9284105, 9804357	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	28199407	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15447982, 16033833, 19590950, 20482762, 20552547, 22997041, 24332913, 26390986, 28258354, 29924804		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15990899	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	16941011, 1705754, 17217540, 17263897, 18275599, 18510725, 18536655, 19855377, 20426817, 20482762, 21801876, 25012653, 30236106, 31829259	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	28721490, 29350066, 31494492, 8760013, 8950218		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	28152077	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	1383350, 17217540, 18752048, 23702728, 29135512, 31047981, 33538412	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	11487275, 7535804	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	17187659, 33650041	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	1705754, 30236106	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	34247629	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25728352, 28721490, 28793245, 29350066		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31320708		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16989503, 20614292, 21897749, 23106579, 24168496, 25961909, 32170368, 33658703, 9516889, 9930073	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26084998	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	9516889	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12037031		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10463597		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	16373961		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10463597, 29532467		★☆☆☆☆ Found in Text Mining only
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	BEFREE	27923499		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	28569788		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21177983	Stimulate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	30787169	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31121178		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	11973334, 17039244, 19267394, 20030639, 25830653, 30240119, 9804327, 9989794		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	40140985	Associate	★☆☆☆☆ Found in Text Mining only
Dermatopathia pigmentosa reticularis	Dermatopathia Pigmentosa Reticularis	GENOMICS_ENGLAND_DG	16098032, 16960809, 7561171, 9804355		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatopathia pigmentosa reticularis	Dermatopathia Pigmentosa Reticularis	BEFREE	16960809, 19040520		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatopathia pigmentosa reticularis	Dermatopathia Pigmentosa Reticularis	ORPHANET_DG	16960809		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatopathia pigmentosa reticularis	Dermatopathia pigmentosa reticularis	Pubtator	16960809	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatopathia pigmentosa reticularis	Dermatopathia Pigmentosa Reticularis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatopathia pigmentosa reticularis	Dermatopathia Pigmentosa Reticularis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	25446319	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28403359	Inhibit	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	16960809	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	18049449		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	18049449		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31121178		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	28104354	Stimulate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	14987259, 17476356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	16960809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	17476356, 36578049	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa	Epidermolysis Bullosa	LHGDN	17659012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Herpetiformis Dowling-Meara	Epidermolysis Bullosa	UNIPROT_DG	10583131, 10730767, 10733662, 10820403, 11710919, 12603865, 12655565, 12707098, 14987259, 16786515, 16882168, 1717157, 7561171, 7688405, 8601736, 9804355, 9989794		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Herpetiformis Dowling-Meara	Epidermolysis Bullosa	BEFREE	14987259, 16439965, 28888469, 29932457, 30099737, 30382914, 31772641, 7688405		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Herpetiformis Dowling-Meara	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	16098032, 7561171, 9804355		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Herpetiformis Dowling-Meara	Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Herpetiformis Dowling-Meara	Epidermolysis Bullosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	10234505, 10383750, 10494094, 10733662, 10971341, 11480251, 11710919, 11869205, 11918708, 11990248, 12558637, 12930305, 1372711, 14578178, 14987259, 15060141, 15647384, 16786515, 16882168, 16960809, 17039244, 1720261, 18713255, 19267394, 20030639, 20060687, 20128788, 20151404, 20199538, 20571545, 21375516, 21593775, 21623745, 21967011, 22277943, 22363617, 22639907, 23528216, 24981776, 25830653, 25961909, 26432462, 28561874, 29080682, 30078200, 31302245, 7525408, 7526933, 7539246, 7561171, 7688405, 8586658, 8601736, 8867769, 8875963, 9028791, 9284105, 9406827, 9804355, 9989794		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	10383750, 10733662, 11407988, 11407989, 11710919, 11973334, 1371287, 14660619, 15647384, 16098032, 16439965, 16960809, 17039244, 1721080, 19847192, 21326298, 21490615, 21593775, 21844930, 22363617, 23894602, 24940650, 25961909, 26432462, 27889290, 28561874, 28888469, 29080682, 29932457, 30382914, 32179493, 34046686, 34509171, 34643242, 34680898, 35334406, 35691363, 39976599, 7525407, 7525408, 7561171, 7682695, 7688405, 8601736, 8799157, 9284105, 9406827, 9804355, 9804357, 9833037, 9989794	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	LHGDN	12655565, 12930305, 15654986, 16098032, 16786515, 17039244		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	CLINVAR_DG	20151404		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex Autosomal Recessive	Epidermolysis bullosa	Pubtator	11918708, 14578178, 7525408	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	UNIPROT_DG	10733662, 10820403, 11710919, 16786515, 1720261, 7526926, 7682883, 9989794		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	BEFREE	12101866, 21967011, 31001817, 31078522, 9554744		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	16098032, 7561171		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	ORPHANET_DG	16601668		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis bullosa	Pubtator	9129237	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)	Epidermolysis Bullosa Simplex	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	16098032, 7561171		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1	Epidermolysis Bullosa	UNIPROT_DG	7526933		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1	Epidermolysis Bullosa	ORPHANET_DG	7526933		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1	Epidermolysis Bullosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	21844930	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	17187659	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27797221, 31048097	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibroadenoma	Fibroadenoma	BEFREE	28685877		★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 3 (disorder)	Gaucher Disease	BEFREE	30013199		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	36002796	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	9011570	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	21890681	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	9804355		★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	39909126	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	28569788		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	26390052, 27423691	Associate	★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	CTD_human_DG	16960809		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	28569788		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	36240204	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG	9804355		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Diffuse	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	12230511		★☆☆☆☆ Found in Text Mining only
Leukokeratosis, Hereditary Mucosal	Leukokeratosis	BEFREE	7686226		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Localized epidermolysis bullosa simplex	Epidermolysis bullosa simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases Interstitial	Lung disease	Pubtator	28199407	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28199407		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23106579	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19089296	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16033833, 20482762, 22997041, 24332913, 28258354, 29924804		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31320708		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	CTD_human_DG	16543248		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25728352, 28721490, 28793245, 29350066		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10795747, 28911924, 29184166, 31320708		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10463597		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18275599		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	9584135		★☆☆☆☆ Found in Text Mining only
Meibomian gland dysfunction	Meibomian Gland Dysfunction	BEFREE	27569371		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29377892, 31673075, 36553569	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	2414994	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	25731627		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	19776502	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	12677430		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Naegeli syndrome	Naegeli-Franceschetti-Jadassohn syndrome	GENOMICS_ENGLAND_DG	16098032, 16960809, 7561171, 9804355		★☆☆☆☆ Found in Text Mining only
Naegeli syndrome	Naegeli-Franceschetti-Jadassohn syndrome	BEFREE	16960809, 18049449		★☆☆☆☆ Found in Text Mining only
Naegeli syndrome	Naegeli-Franceschetti-Jadassohn syndrome	CTD_human_DG	16960809		★☆☆☆☆ Found in Text Mining only
Naegeli syndrome	Naegeli-Franceschetti-Jadassohn syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Naegeli syndrome	Naegeli-Franceschetti-Jadassohn syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Naegeli-Franceschetti-Jadassohn syndrome	Naegeli-Franceschetti-Jadassohn Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25972552		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10449779, 10786689, 12971413, 1382846, 15166090, 15447982, 16033833, 16429394, 16518415, 18375895, 19190332, 19435901, 19626033, 20552547, 22777354, 23208589, 23573331, 24569264, 25728352, 26390986, 26831077, 27556695, 28938159, 29924804, 30044853, 30287243		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21791943		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	12037031, 28685877		★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31315664, 32512936	Associate	★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	BEFREE	14987259		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	16990761, 19435901		★☆☆☆☆ Found in Text Mining only
Papilloma, Squamous Cell	Papilloma	BEFREE	8950218		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	36446780	Associate	★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	CTD_human_DG	16960809		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	9033282	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	9033282		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23839044		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	12230511, 24453242		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	29784039	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	16616289	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	29130490	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases Vesiculobullous	Skin disease	Pubtator	15647384	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11 autosomal recessive	Spastic paraplegia	Pubtator	1689541	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16357510, 16518415, 24791743, 28721490		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	16543248		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	16543248		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17187659, 21498718		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16080511, 32468250	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcutaneous hemorrhage	Subcutaneous hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36438899	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	CTD_human_DG	16543248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	20482762		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	19855377, 30335837, 32266539, 36446780	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30335837		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22308455	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28721490		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	1379783	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	21890681	Associate	★☆☆☆☆ Found in Text Mining only
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	UNIPROT_DG	10733662, 12603865, 12655565, 12707098, 14987259, 16786515, 16882168, 7506097, 7506606, 7561171, 9284105, 9804357, 9989794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	GENOMICS_ENGLAND_DG	16098032, 7561171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations