KRT5 (keratin 5)

Gene

• Entrez ID: 3852
• Gene name: Keratin 5
• Gene symbol: KRT5
• Synonyms (NCBI Gene): CK5, DDD, DDD1, EBS1, EBS2, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F, K5, KRT5A
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs57348201	T>A,G	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs57499817	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57599352	A>G	Pathogenic	Missense variant, coding sequence variant
rs57890479	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58058996	A>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs58072617	A>G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58163069	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58619430	C>T	Pathogenic	Missense variant, coding sequence variant
rs58751565	G>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs59115483	C>T	Pathogenic	Missense variant, coding sequence variant
rs59190510	C>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs59730172	G>A,T	Not-provided, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs60271599	A>G	Pathogenic	Missense variant, coding sequence variant
rs60586163	G>A,C,T	Not-provided, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs60715293	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61126080	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs61297109	G>A,C,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61348424	->T	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs61348633	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs111448623	T>C,G	Likely-pathogenic	Intron variant
rs121912474	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs121912475	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121912476	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs267607448	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs267607451	C>G	Pathogenic	Missense variant, coding sequence variant
rs267607456	C>A,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs754242209	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs763608512	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs886039403	C>T	Pathogenic	Splice donor variant
rs1064793977	T>C	Pathogenic	Missense variant, initiator codon variant
rs1131691471	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1294665232	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1555156076	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555156100	TGTTCCTGGCATCCTTGAGGGCCAGCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555156480	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1565593355	C>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1592193619	->T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000221	hsa-miR-196a-5p	Review	20026422
MIRT003353	hsa-miR-196b-5p	Review	20026422
MIRT000221	hsa-miR-196a-5p	Luciferase reporter assay, qRT-PCR	19342367
MIRT017843	hsa-miR-335-5p	Microarray	18185580
MIRT732780	hsa-let-7a-5p	Luciferase reporter assay, Western blotting	32965722
MIRT1101320	hsa-let-7a	CLIP-seq
MIRT1101321	hsa-let-7b	CLIP-seq
MIRT1101322	hsa-let-7c	CLIP-seq
MIRT1101323	hsa-let-7d	CLIP-seq
MIRT1101324	hsa-let-7e	CLIP-seq
MIRT1101325	hsa-let-7f	CLIP-seq
MIRT1101326	hsa-let-7g	CLIP-seq
MIRT1101327	hsa-let-7i	CLIP-seq
MIRT1101328	hsa-miR-103a	CLIP-seq
MIRT1101329	hsa-miR-107	CLIP-seq
MIRT1101330	hsa-miR-127-5p	CLIP-seq
MIRT1101331	hsa-miR-1299	CLIP-seq
MIRT1101332	hsa-miR-1301	CLIP-seq
MIRT1101333	hsa-miR-1343	CLIP-seq
MIRT1101334	hsa-miR-196a	CLIP-seq
MIRT1101335	hsa-miR-196b	CLIP-seq
MIRT1101336	hsa-miR-1976	CLIP-seq
MIRT1101337	hsa-miR-2682	CLIP-seq
MIRT1101338	hsa-miR-3122	CLIP-seq
MIRT1101339	hsa-miR-3164	CLIP-seq
MIRT1101340	hsa-miR-3170	CLIP-seq
MIRT1101341	hsa-miR-3202	CLIP-seq
MIRT1101342	hsa-miR-342-5p	CLIP-seq
MIRT1101343	hsa-miR-34a	CLIP-seq
MIRT1101344	hsa-miR-34c-5p	CLIP-seq
MIRT1101345	hsa-miR-3614-5p	CLIP-seq
MIRT1101346	hsa-miR-3675-5p	CLIP-seq
MIRT1101347	hsa-miR-3689d	CLIP-seq
MIRT1101348	hsa-miR-3714	CLIP-seq
MIRT1101349	hsa-miR-3913-5p	CLIP-seq
MIRT1101350	hsa-miR-4282	CLIP-seq
MIRT1101351	hsa-miR-4283	CLIP-seq
MIRT1101352	hsa-miR-4325	CLIP-seq
MIRT1101353	hsa-miR-4458	CLIP-seq
MIRT1101354	hsa-miR-4489	CLIP-seq
MIRT1101355	hsa-miR-4492	CLIP-seq
MIRT1101356	hsa-miR-4498	CLIP-seq
MIRT1101357	hsa-miR-449a	CLIP-seq
MIRT1101358	hsa-miR-449b	CLIP-seq
MIRT1101359	hsa-miR-449c	CLIP-seq
MIRT1101360	hsa-miR-4500	CLIP-seq
MIRT1101361	hsa-miR-4505	CLIP-seq
MIRT1101362	hsa-miR-450b-3p	CLIP-seq
MIRT1101363	hsa-miR-4533	CLIP-seq
MIRT1101364	hsa-miR-4646-5p	CLIP-seq
MIRT1101365	hsa-miR-4651	CLIP-seq
MIRT1101366	hsa-miR-4664-5p	CLIP-seq
MIRT1101367	hsa-miR-4782-5p	CLIP-seq
MIRT1101368	hsa-miR-4786-5p	CLIP-seq
MIRT1101369	hsa-miR-5047	CLIP-seq
MIRT1101370	hsa-miR-516b	CLIP-seq
MIRT1101371	hsa-miR-564	CLIP-seq
MIRT1101372	hsa-miR-608	CLIP-seq
MIRT1101373	hsa-miR-762	CLIP-seq
MIRT1101374	hsa-miR-769-3p	CLIP-seq
MIRT1101375	hsa-miR-890	CLIP-seq
MIRT1101376	hsa-miR-98	CLIP-seq
MIRT1556602	hsa-miR-1909	CLIP-seq
MIRT1556603	hsa-miR-214	CLIP-seq
MIRT1556604	hsa-miR-3619-5p	CLIP-seq
MIRT1556605	hsa-miR-4291	CLIP-seq
MIRT1556606	hsa-miR-4648	CLIP-seq
MIRT1556607	hsa-miR-4654	CLIP-seq
MIRT1556608	hsa-miR-4769-5p	CLIP-seq
MIRT1556609	hsa-miR-761	CLIP-seq
MIRT1556610	hsa-miR-922	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Unknown	16241993;19882246
SP1	Activation	12024040
TFAP2A	Activation	12024040

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	7520042
GO:0005515	Function	Protein binding	IPI	10727209, 10852826, 15671067, 15731013, 22705788, 24940650, 25416956, 31995743, 32296183, 37671092
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IDA	20128788, 22170488
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IDA	10852826
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	TAS	7520042
GO:0008544	Process	Epidermis development	TAS	7520042
GO:0009612	Process	Response to mechanical stimulus	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030334	Process	Regulation of cell migration	ISS
GO:0031424	Process	Keratinization	IBA
GO:0032880	Process	Regulation of protein localization	ISS
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IDA	7679677, 22705788
GO:0045095	Component	Keratin filament	IEA
GO:0045107	Process	Intermediate filament polymerization	ISS
GO:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0097110	Function	Scaffold protein binding	IPI	10852826

Other IDs

• MIM: 148040
• HGNC: 6442
• e!Ensembl: ENSG00000186081

Protein

• UniProt ID: P13647
• Protein name: Keratin, type II cytoskeletal 5 (58 kDa cytokeratin) (Cytokeratin-5) (CK-5) (Keratin-5) (K5) (Type-II keratin Kb5)
• Protein function: Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress (By similarity). Regulates the recruitment of Langerhans cells to the epidermis, potentially
• PDB: 3TNU, 6JFV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	16 → 164	Keratin type II head	Family
  PF00038	Filament	167 → 480	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in corneal epithelium (at protein level) (PubMed:26758872). Expressed in keratinocytes (at protein level) (PubMed:20128788, PubMed:31302245). {ECO:0000269|PubMed:20128788, ECO:0000269|PubMed:26758872, ECO:0000269|PubMed:31302
• Sequence:

  MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGGFGRVSLAGACGVGGY
  GSRSLYNLGGSKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSGFGFGGGAGGGFGLGGG
  AGFGGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPSIQRVRTEEREQIKTLNNKFA
  SFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRL
  DSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDAAYMNKVELEAKVDALMDEI
  NFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIANRSRTEAESW
  YQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQR
  GELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECR
  LSGEGVGPVNISVVTSSVSSGYGSGSGYGGGLGGGLGGGLGGGLAGGSSGSYYSSSSGGV
  GLGGGLSVGGSGFSASSGRGLGVGFGSGGGSSSSVKFVSTTSSSRKSFKS

• Sequence length: 590

Pathways

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
Dowling-Degos disease 1	Likely pathogenic; Pathogenic	rs2498407244, rs58751565, rs61348424, rs61297109	RCV003225775 RCV000015753 RCV000015762 RCV003333731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa	Pathogenic; Likely pathogenic	rs58766676, rs56729325	RCV001823714 RCV005234961	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex	Likely pathogenic; Pathogenic	rs1938615785, rs1938635857, rs1938645889, rs1938666838, rs1938667202, rs376462752, rs57599352, rs60586163, rs57499817, rs121912475, rs61126080, rs59115483, rs59190510, rs1565593355, rs267607458, rs59243757, rs62642056, rs267607456, rs267607457, rs59840738, rs57142010	RCV001352784 RCV001352779 RCV001352778 RCV001352777 RCV001352775 RCV001352724 RCV001352783 RCV001352776 RCV001352721 RCV001352726 RCV001352788 RCV001352723 RCV001352787 RCV000761247 RCV001352781 RCV001352782 RCV001352785 RCV001352722 RCV001352725 RCV001352774 RCV005250007 RCV001352780	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex 1A, generalized severe	Likely pathogenic; Pathogenic	rs1938679596, rs60715293, rs59190510, rs56922686, rs60586163	RCV001808117 RCV000015756 RCV000020296 RCV002247452 RCV002247453	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex 1C, localized	Pathogenic	rs58058996, rs59190510, rs61297109	RCV001813990 RCV000988857 RCV000503703	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex 2A, generalized severe	Pathogenic	rs886039403, rs61348633, rs57890479, rs59190510	RCV001731190 RCV001731187 RCV001731188 RCV001731189 RCV001811191	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex 2B, generalized intermediate	Likely pathogenic; Pathogenic	rs2498519756, rs57599352, rs58163069, rs121912474, rs121912475, rs57348201, rs59190510, rs56922686, rs59840738	RCV002281636 RCV001731290 RCV001731294 RCV001731296 RCV001731298 RCV001731299 RCV005867789 RCV004786330 RCV004786331	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex 2C, localized	Pathogenic	rs58058996, rs58072617, rs59730172, rs60586163, rs59115483, rs57187183	RCV001731291 RCV001731292 RCV001731293 RCV001731295 RCV001731300 RCV002284185	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE	Pathogenic	rs763608512	RCV001733890	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE	Pathogenic; Likely pathogenic	rs2120471876, rs1565593355	RCV001733891 RCV001759447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	Likely pathogenic	rs59115483	RCV003328115	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex with migratory circinate erythema	Pathogenic	rs2120468389, rs2120475630, rs2120468268, rs61126080	RCV001823944 RCV001823945 RCV001823946 RCV000015761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex with mottled pigmentation	Pathogenic; Likely pathogenic	rs57499817, rs61126080, rs59190510, rs59092197	RCV000015754 RCV001814959 RCV001270733 RCV003152677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex, Koebner type	Pathogenic; Likely pathogenic	rs58072617, rs1555156076	RCV001197083 RCV000505555	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KRT5-related disorder	Likely pathogenic; Pathogenic	rs1555156480, rs58058996, rs58072617, rs57499817, rs61126080, rs59115483, rs59190510, rs60720877, rs58107458, rs56729325	RCV003404584 RCV003914846 RCV003894805 RCV003415710 RCV003894806 RCV003894807 RCV004752716 RCV004730868 RCV003398646 RCV003894912	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOWLING-DEGOS DISEASE	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex 2C, localized, modifier of	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA	—	GWAS catalog, HPO GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX HERPETIFORMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX WITH CIRCINATE MIGRATORY ERYTHEMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ 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
Acute pancreatitis	Pancreatitis	BEFREE	29307825		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16575619, 20068475, 24166777, 24324581, 28417484		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18064689, 18833821		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26603857, 29069744		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	25497672, 29299119, 29330226, 30222204		★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	21577319	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	28390135	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	23234252	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	20233794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angina Unstable	Angina pectoris	Pubtator	35437049	Associate	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	21356322		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	30594571		★☆☆☆☆ 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
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30304036		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	19342367		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	25855136, 27539887, 31174203		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	25855136, 27539887, 31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	25855136, 27539887, 31174203		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19415693, 27612592, 28074276		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	25961909, 32927888, 34643242, 35247839, 7534039, 9804357	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	30613307	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	25644510		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14871808, 15990899, 16530420, 17105822, 19882246, 20190683, 21566082, 22751729, 23184698, 23548208, 23708665, 25116921, 26096934, 26330357, 28439082, 28692043, 30538542, 31307407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25330770		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	12429812, 16941011, 17263897, 18275599, 18536655, 18752049, 19434314, 19855377, 20104967, 20482762, 20492711, 20665103, 20818337, 21427063, 21596841, 21914172, 22751729, 22791584, 23082819, 23184698, 23702728, 24008056, 24427357, 24937677, 25005788, 25012653, 25742793, 25999348, 26137966, 26248960, 26339367, 28470571, 28692043, 29553968, 29884220, 31307407, 34055036, 35255911, 35639459	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	15990899	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	28798244		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	26090004	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10454586, 15753378, 17460449, 31494492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	28528398	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	1383350, 18752048, 19578363, 29135512, 31047981, 33893132, 37752769	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	33650041	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	21118480, 23778411, 26397772, 27116088, 32467291	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	29434341	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19415693, 27612592, 28074276		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24324581		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26495758	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36459568	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27031776	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35417384	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12946229, 26124082	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	1379783, 16415794, 17348440, 19578363, 20855955, 22748473, 24327102, 28099906, 28528398, 30484070, 31752667, 31880186, 32170368, 32843061, 32977822, 35093316, 36776865	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27399691	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	1689541	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	12235001, 12773389, 19578363, 28403527, 31580512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	19578363, 20871598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28147318		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	30231971		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	23299965		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16575619		★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	23548208		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29986652		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11355179		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28658301		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	30222204		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	21356322		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	30787169	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	17039244, 23075809, 25830653, 30099737, 30240119		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29383814, 30637921, 31278258		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29808503		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28403359	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29307825, 29808503		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31615341	Associate	★☆☆☆☆ Found in Text Mining only
Dowling Degos Disease	Dowling degos disease	Pubtator	16465624, 16917491, 24372084, 25157627	Associate	★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	16465624, 16917491, 20199538, 20222933, 20332593, 21569119, 23666529, 23684010, 25157627, 28287404, 29091214, 29421736, 30179838, 31692218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dowling-degos disease	Dowling-Degos Disease	ORPHANET_DG	16465624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dowling-degos disease	Dowling-Degos Disease	GENOMICS_ENGLAND_DG	16465624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dowling-Degos disease	Dowling-Degos Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dowling-degos disease	Dowling-Degos Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dowling-Degos disease 1	Dowling-Degos Disease	GENOMICS_ENGLAND_DG	16465624		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dowling-Degos disease 1	Dowling-Degos Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dowling-Degos disease 1	Dowling-Degos Disease	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskinesias	Dyskinesia	Pubtator	33225657	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	24143938	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24238509		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	18567994	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	28104354	Stimulate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	16465624		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa	Epidermolysis Bullosa	LHGDN	17855059		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	1977802, 36578049, 38368142	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	20571545, 27941563		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Herpetiformis Dowling-Meara	Epidermolysis Bullosa	UNIPROT_DG	10730767, 12655565, 1372711, 16786515, 16882168, 21623745, 8757772, 9036937, 9406827, 9989794		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Herpetiformis Dowling-Meara	Epidermolysis Bullosa	BEFREE	29932457, 30099737, 30382914, 30515866, 31772641		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Herpetiformis Dowling-Meara	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG			★☆☆☆☆ 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, 10782015, 11407989, 11408584, 11480251, 11973334, 12648226, 12655565, 12925204, 14723728, 14987259, 15102078, 15324323, 15347343, 15647384, 15827748, 16786515, 16882168, 17039244, 17101470, 1718160, 1720261, 18713255, 19220453, 19267394, 20030639, 20055872, 20060687, 20128788, 20151404, 20199538, 20849457, 21326298, 21375516, 21593775, 21716320, 22639907, 24981776, 25830653, 25961909, 26432462, 28425111, 28561874, 28647894, 29080682, 30078200, 30933721, 31078522, 31302245, 31579952, 7520042, 7534039, 7537780, 7539246, 7686424, 8586658, 8799157, 8820401, 9406827, 9740251, 9804357, 9989794		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	10383750, 10733662, 11407988, 11407989, 11710919, 11973334, 12648226, 12925204, 15102078, 15647384, 15982306, 16098032, 16417221, 17039244, 21490615, 22747925, 23894602, 24964947, 25961909, 26432462, 28561874, 29080682, 29932457, 30382914, 30933721, 34046686, 34643242, 34680898, 35247839, 38368142, 7534039, 7537780, 7688477, 8601736, 8799157, 9036937, 9406827, 9740251, 9804355, 9804357, 9989794	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	LHGDN	12655565, 15647384, 16098032, 16786515, 17039244, 17229601		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	CLINVAR_DG	16465624, 20199538		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	UNIPROT_DG	11407988, 16882168, 21623745, 7534039, 7686424, 9740251, 9989794		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	BEFREE	17040498, 31078522, 31302245		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG			★☆☆☆☆ 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 circinate migratory erythema	Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema	Epidermolysis Bullosa Simplex With Migratory Circinate Erythema	BEFREE	12925204, 16417221		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema	Epidermolysis Bullosa Simplex With Migratory Circinate Erythema	ORPHANET_DG	12925204		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema	Epidermolysis bullosa	Pubtator	16417221, 24104543	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema	Epidermolysis Bullosa Simplex With Migratory Circinate Erythema	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema	Epidermolysis Bullosa Simplex With Migratory Circinate Erythema	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	BEFREE	10494094, 15982306, 16417221, 16581562, 17229601, 20923750, 23889190, 9129237		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	UNIPROT_DG	10494094, 16882168, 21623745, 8799157		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis bullosa	Pubtator	15982306, 9129237	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)	Epidermolysis Bullosa Simplex	BEFREE	31302245		★☆☆☆☆ Found in Text Mining only
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	UNIPROT_DG	11973334		★☆☆☆☆ 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	30933721	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29573052		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	24148581, 27472239	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21076459	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	11407989		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	12648226	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	21702904	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29136617		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	9036937	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	27423691	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27967234		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35608953, 35681516, 37230801, 37758700	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24001612		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	21356322		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	9449260		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	13679202		★☆☆☆☆ Found in Text Mining only
Localized epidermolysis bullosa simplex	Epidermolysis bullosa simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	37758700	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	33859634	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31854219, 31880186	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21396129	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23359191, 25724181, 35255911	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	25497672		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14519755, 14871808, 15930334, 15990899, 19882246, 20190683, 20665103, 21566082, 22751729, 23184698, 23708665, 25116921, 26096934, 28439082, 28692043, 30538542, 31307407		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24238509		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24324581, 30718697		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	13679202		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28147318		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19415693, 27612592, 28074276		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	13679202, 25542188, 28692043, 29069744		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	23827819		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12466114		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27499099		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25330770		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19578363, 33441834, 35054979	Associate	★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type II	Nephrotic syndrome	BEFREE	18224273		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	28403527		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	12194995, 15608393, 16056246, 16415794, 16554731, 18567994, 23041828	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	18064689		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21574263, 28414091		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	12194995, 28922567, 36557076	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	25400801	Stimulate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	33225657	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	35673812	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	26771137		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	24632568	Stimulate	★☆☆☆☆ 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
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28367237		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32382038	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	38065913	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12235001, 15328174, 15990899, 16340309, 20665103, 21901395, 23548208, 23597566, 23650517, 23827819, 23928991, 28342317, 30231971, 30367623, 30676333, 30816919		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28417484		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20068475, 21791943, 22399565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	11745672		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	11355179		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26096934		★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	29217752		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28147318		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28147318	Associate	★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36788090	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29307825		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	10454586		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	21076459	Associate	★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	BEFREE	23666529		★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	BEFREE	8961879		★☆☆☆☆ Found in Text Mining only
Progressive reticulate hyperpigmentation	Reticulate Hyperpigmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	9033282	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38065913	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38286613	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	37758700	Associate	★☆☆☆☆ Found in Text Mining only
Punctate palmoplantar hyperkeratosis	Punctate palmoplantar hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	28692043		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	30111796		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	28632777, 30699951	Associate	★☆☆☆☆ Found in Text Mining only
Reticulate acropigmentation of Kitamura	Reticulate Acropigmentation Of Kitamura	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28692043		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	12946229	Associate	★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	25989286	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases Vesiculobullous	Skin disease	Pubtator	15647384	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	15057277		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	10454586, 19058256		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18064689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	23597566, 23827819, 24166777, 26708602, 29069744, 29187465, 30231971, 30546464, 30914778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31615341		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28528398, 32468250	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24001612		★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	BEFREE	16417221		★☆☆☆☆ Found in Text Mining only
Subcutaneous hemorrhage	Subcutaneous hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	28798244		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21496280, 21693047, 22638807, 22828374, 23392436, 23443971, 24390667, 24632568, 25179840, 25887482, 26930401, 26968553, 28294120, 28470571, 29475913, 29725243, 29884220, 30335837, 33753865, 36870308, 37012444	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23082819	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25179840, 26009308, 28294120, 28470571, 28648939, 30335837, 30367623, 30538542		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25966200	Stimulate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	35563543	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	12778082, 29242529, 29587848, 29941343, 32546765, 33435173	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	28632777, 35563543	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26990746		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	27399691	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	1379783, 32843061	Associate	★☆☆☆☆ Found in Text Mining only
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	UNIPROT_DG	10782015, 12655565, 12707098, 14723728, 15140024, 15347343, 16786515, 16882168, 21623745, 7506097, 7520042, 7688477, 8595431, 8807337, 9804357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	BEFREE	14723728, 15347343, 17549391, 19797037, 30240119, 7520042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations