KRT1 (keratin 1)

Gene

• Entrez ID: 3848
• Gene name: Keratin 1
• Gene symbol: KRT1
• Synonyms (NCBI Gene): AEI2, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK
• 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
rs57695159	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57837128	A>G	Pathogenic	Missense variant, coding sequence variant
rs57959072	A>C,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57977969	T>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58420087	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58949162	C>A,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs59151464	G>A	Pathogenic	Missense variant, coding sequence variant
rs59169454	CC>T	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs59429455	G>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs60297570	G>A	Pathogenic	Missense variant, coding sequence variant
rs61218439	T>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61616632	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs137853224	C>G	Pathogenic	Coding sequence variant, missense variant
rs137853225	A>G	Pathogenic	Coding sequence variant, missense variant
rs139428176	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs199877663	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs267607422	C>A,G,T	Pathogenic, not-provided	Splice donor variant
rs1555171158	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555171247	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555171527	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592264179	CCGCCGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736922	hsa-miR-495-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	33675276
MIRT1101111	hsa-miR-103a	CLIP-seq
MIRT1101112	hsa-miR-107	CLIP-seq
MIRT1101113	hsa-miR-1266	CLIP-seq
MIRT1101114	hsa-miR-1301	CLIP-seq
MIRT1101115	hsa-miR-137	CLIP-seq
MIRT1101116	hsa-miR-208a	CLIP-seq
MIRT1101117	hsa-miR-208b	CLIP-seq
MIRT1101118	hsa-miR-25	CLIP-seq
MIRT1101119	hsa-miR-3133	CLIP-seq
MIRT1101120	hsa-miR-3150a-3p	CLIP-seq
MIRT1101121	hsa-miR-3153	CLIP-seq
MIRT1101122	hsa-miR-3175	CLIP-seq
MIRT1101123	hsa-miR-32	CLIP-seq
MIRT1101124	hsa-miR-330-3p	CLIP-seq
MIRT1101125	hsa-miR-363	CLIP-seq
MIRT1101126	hsa-miR-3658	CLIP-seq
MIRT1101127	hsa-miR-3664-3p	CLIP-seq
MIRT1101128	hsa-miR-3667-5p	CLIP-seq
MIRT1101129	hsa-miR-367	CLIP-seq
MIRT1101130	hsa-miR-4270	CLIP-seq
MIRT1101131	hsa-miR-4441	CLIP-seq
MIRT1101132	hsa-miR-4518	CLIP-seq
MIRT1101133	hsa-miR-499-5p	CLIP-seq
MIRT1101134	hsa-miR-5047	CLIP-seq
MIRT1101135	hsa-miR-545	CLIP-seq
MIRT1101136	hsa-miR-548p	CLIP-seq
MIRT1101137	hsa-miR-92a	CLIP-seq
MIRT1101138	hsa-miR-92b	CLIP-seq
MIRT1101139	hsa-miR-939	CLIP-seq
MIRT1101111	hsa-miR-103a	CLIP-seq
MIRT1101112	hsa-miR-107	CLIP-seq
MIRT1101114	hsa-miR-1301	CLIP-seq
MIRT1101115	hsa-miR-137	CLIP-seq
MIRT1101118	hsa-miR-25	CLIP-seq
MIRT1101123	hsa-miR-32	CLIP-seq
MIRT1101125	hsa-miR-363	CLIP-seq
MIRT1101129	hsa-miR-367	CLIP-seq
MIRT1101134	hsa-miR-5047	CLIP-seq
MIRT1101135	hsa-miR-545	CLIP-seq
MIRT1101136	hsa-miR-548p	CLIP-seq
MIRT1101137	hsa-miR-92a	CLIP-seq
MIRT1101138	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA	7543090
GO:0001533	Component	Cornified envelope	IEA
GO:0001867	Process	Complement activation, lectin pathway	IPI	11549596
GO:0005515	Function	Protein binding	IPI	11290596, 16923132, 20562859, 24940650, 25910212, 27595935, 32296183, 39009827
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IDA	32179842
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	TAS	1381288
GO:0005882	Component	Intermediate filament	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006979	Process	Response to oxidative stress	NAS	11549596
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	11290596
GO:0016020	Component	Membrane	IEA
GO:0018149	Process	Peptide cross-linking	IDA	7543090
GO:0030246	Function	Carbohydrate binding	IPI	11549596
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030280	Function	Structural constituent of skin epidermis	IDA	7543090
GO:0031424	Process	Keratinization	IBA
GO:0038023	Function	Signaling receptor activity	NAS	11290596
GO:0042730	Process	Fibrinolysis	NAS	11290596
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045095	Component	Keratin filament	IPI	27595935
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045765	Process	Regulation of angiogenesis	NAS	11290596
GO:0046982	Function	Protein heterodimerization activity	IDA	27595935
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0051290	Process	Protein heterotetramerization	IDA	27595935
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0070062	Component	Extracellular exosome	HDA	11487543, 19199708, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 139350
• HGNC: 6412
• e!Ensembl: ENSG00000167768

Protein

• UniProt ID: P04264
• Protein name: Keratin, type II cytoskeletal 1 (67 kDa cytokeratin) (Cytokeratin-1) (CK-1) (Hair alpha protein) (Keratin-1) (K1) (Type-II keratin Kb1)
• Protein function: May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK. {ECO:0000269|PubMed:
• PDB: 4ZRY, 6E2J, 6UUI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	16 → 176	Keratin type II head	Family
  PF00038	Filament	179 → 492	Intermediate filament protein	Coiled-coil
  PF16210	Keratin_2_tail	493 → 640	Keratin type II cytoskeletal 1 tail	Family

• Tissue specificity: TISSUE SPECIFICITY: The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis.
• Sequence:

  MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGG
  GFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFG
  GFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSRE
  REQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRR
  RVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD
  LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYED
  IAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS
  NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIA
  TYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYG
  SGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSG
  GRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR

• Sequence length: 644

Pathways

Reactome:

Neutrophil degranulation
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
Annular epidermolytic ichthyosis	Likely pathogenic; Pathogenic	rs57837128, rs1941559064, rs59429455	RCV000017262 RCV001270734 RCV001293646	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital reticular ichthyosiform erythroderma	Pathogenic	rs1555171158	RCV000662282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse nonepidermolytic palmoplantar keratoderma	Pathogenic	rs57977969, rs60447237, rs267607424	RCV000017261 RCV002284186 RCV001804161	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolytic hyperkeratosis 1	Pathogenic	rs2121000699, rs2498637710, rs59089201, rs59151464, rs267607422	RCV004594632 RCV003445237 RCV005246609 RCV005252724 RCV003389393	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolytic ichthyosis	Likely pathogenic; Pathogenic	rs58928370, rs137853224, rs57695159, rs58420087, rs57959072, rs59429455, rs2498629912, rs61616632	RCV001823798 RCV000017258 RCV000017259 RCV000017260 RCV000017264 RCV000017265 RCV003227463 RCV000505690	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis hystrix of Curth-Macklin	Pathogenic	rs2498629456, rs2498630516, rs59169454, rs58373389	RCV002444398 RCV002444399 RCV002051632 RCV002463435	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis, annular epidermolytic, 2	Likely pathogenic; Pathogenic	rs57837128, rs61218439, rs58928370	RCV002463993 RCV002463994 RCV003448255	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratosis palmoplantaris striata 3	Pathogenic	rs57650413	RCV002284187	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KRT1-related disorder	Likely pathogenic; Pathogenic	rs57837128, rs59429455	RCV004754263 RCV003390687	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar keratoderma, epidermolytic, 2	Pathogenic; Likely pathogenic	rs267607421, rs58928370	RCV003232986 RCV003761741	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the skin	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 11	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYTIC PALMOPLANTAR KERATODERMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary angioedema with normal C1Inh	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis, annular epidermolytic 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS OF GREITHER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS PALMOPLANTARIS STRIATA III	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Annular epidermolytic ichthyosis	Ichthyosis with epidermolytic hyperkeratosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29028840		★☆☆☆☆ Found in Text Mining only
Autosomal dominant epidermolytic ichthyosis	Epidermolytic Ichthyosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	11558869	Associate	★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	40453098	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28157321		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	31047981	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	18723014		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	30021014	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29734875		★☆☆☆☆ Found in Text Mining only
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	BEFREE	25774499, 26381864, 27664712, 31638346		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	CLINVAR_DG	25774499		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	ORPHANET_DG	25774499		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conjunctival hamartoma	Conjunctival hamartoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30548623		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28111259		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	8844119		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	23707441, 29028840, 8844119		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	8844119		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	17255957	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	11286630, 30152556	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	12648226, 9023700		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	12648226, 9856846	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	BEFREE	16417221		★☆☆☆☆ Found in Text Mining only
Epidermolytic palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolytic palmoplantar keratoderma of Vorner	Epidermolytic Palmoplantar Keratoderma Of Vorner	ORPHANET_DG	16439967		★☆☆☆☆ Found in Text Mining only
Epidermolytic palmoplantar keratoderma Vorner type	Epidermolytic palmoplantar keratoderma of Vorner	ORPHANET_DG	16439967		★☆☆☆☆ Found in Text Mining only
Epidermolytic palmoplantar keratoderma Vorner type	Epidermolytic palmoplantar keratoderma of Vorner	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Erythrokeratoderma, Reticular	Erythrokeratoderma	ORPHANET_DG	25774499		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10631907		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	10631907		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	10597140		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	9191074		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	10597140, 10631907, 11286616		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	10084317, 11558869, 12406346, 12648226, 14594577, 14708600, 17255957, 24346896, 26581228, 27617465, 28121638, 30152556, 30288772, 30859768, 32898404, 33081034, 33818988, 34199056, 34387055, 40453098, 7507150, 7507151, 7507152, 7508181, 7513736, 7532198, 7678607, 8751983, 9833037, 9856846	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	BEFREE	10084317, 10201536, 10232403, 10597140, 10688370, 10844506, 11204523, 11286630, 11531804, 11559215, 12406346, 12648226, 1381288, 14705805, 14708600, 15214894, 15663507, 16361731, 17101470, 17255957, 20500210, 21271994, 22250628, 22504942, 25808222, 28121638, 29277919, 30288772, 7507151, 7508181, 7509838, 7513736, 7678607, 8751983, 9856846		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	UNIPROT_DG	10232403, 10688370, 10844506, 11531804, 12406348, 1380725, 1381288, 21271994, 7507151, 7507152, 7512983, 9856846		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	GENOMICS_ENGLAND_DG	11286630, 17255957, 7528239		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	ORPHANET_DG	1380725, 7512983		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	LHGDN	16361731		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosiform Erythroderma Congenital	Congenital ichthyosiform erythroderma	Pubtator	11286630, 12406346	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	12406346, 17255957, 26581228, 33081034, 33562614, 7521372	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis Bullosa of Siemens	Ichthyosis Bullosa Of Siemens	BEFREE	11531804, 7521372		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS EXFOLIATIVA	Ichthyosis Exfoliativa	BEFREE	7521372		★☆☆☆☆ Found in Text Mining only
Ichthyosis hystrix of Curth-Macklin	Ichthyosis Hystrix	BEFREE	29689068		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis hystrix of Curth-Macklin	Ichthyosis Hystrix	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis hystrix of Curth-Macklin	Ichthyosis Hystrix	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis hystrix, Curth Macklin type	Ichthyosis Hystrix	GENOMICS_ENGLAND_DG	11286630, 7528239		★☆☆☆☆ Found in Text Mining only
Ichthyosis hystrix, Curth Macklin type	Ichthyosis Hystrix	BEFREE	16417221		★☆☆☆☆ Found in Text Mining only
Ichthyosis hystrix, Curth Macklin type	Ichthyosis Hystrix	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis hystrix, Curth Macklin type	Ichthyosis Hystrix	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	ORPHANET_DG	10053007		★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	UNIPROT_DG	10053007, 10597140		★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	GENOMICS_ENGLAND_DG	11286630, 7528239		★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	BEFREE	30152556		★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28111259		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	28111259		★☆☆☆☆ Found in Text Mining only
Keratoderma Palmoplantar Epidermolytic	Epidermolytic palmoplantar keratoderma	Pubtator	11286630, 12406346, 16439967, 25299193, 30288772, 31036554, 32898404, 34199056, 9833037	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma palmoplantar spastic paralysis	Keratoderma Palmoplantar Spastic Paralysis	ORPHANET_DG	27639257		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	10597140, 11286630, 11558869, 12234709, 12406346, 17255957, 19443303, 21271994, 24346896, 30288772, 31192455, 8666405, 9023700		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG	17255957		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Diffuse	Palmoplantar keratoderma	BEFREE	10631907, 19470048, 25429721, 30452289		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Diffuse	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG	11286630, 7528239		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Diffuse	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	BEFREE	11286630, 15214894, 16439967, 22262370, 23397986, 25299193, 29719290		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	ORPHANET_DG	16439967		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	8844119		★☆☆☆☆ Found in Text Mining only
Keratosis of Greither	Keratosis Of Greither	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis palmoplantaris striata 1	Keratosis palmoplantaris striata	Pubtator	11982762, 19157795	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis palmoplantaris striata 3	Keratosis Palmoplantaris Striata	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19089296	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29028840	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29028840		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	35964051	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28157321		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10631907		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	18572023		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29236289		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29734875		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33441834	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	35802752	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30191968		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22348822		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12010363, 25651379, 29742561, 30021014		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	15345369		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23707441		★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	BEFREE	17255957		★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia Congenita	BEFREE	9023700		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	Nonepidermolytic palmoplantar keratoderma	BEFREE	10631907, 30452289		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	Nonepidermolytic palmoplantar keratoderma	GENOMICS_ENGLAND_DG	11286630, 7528239		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	Nonepidermolytic palmoplantar keratoderma	UNIPROT_DG	11286630, 7528239		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	Nonepidermolytic palmoplantar keratoderma	ORPHANET_DG	29489036		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	Nonepidermolytic palmoplantar keratoderma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	Nonepidermolytic palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	Nonepidermolytic palmoplantar keratoderma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	Palmoplantar Keratoderma-Hereditary Motor And Sensory Neuropathy Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	BEFREE	22250628, 24346896		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	29541006		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	29028840	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	29028840	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	18572023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	22431489, 9484776		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	BEFREE	29853747		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	18572023		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31554264		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16101125		★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	ORPHANET_DG	11982762		★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	Orphanet			★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	BEFREE	16417221, 19018793		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29028840		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40595898	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28111259		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	31432509		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	12778082, 25050384	Associate	★☆☆☆☆ Found in Text Mining only