COL17A1 (collagen type XVII alpha 1 chain)

Gene

• Entrez ID: 1308
• Gene name: Collagen type XVII alpha 1 chain
• Gene symbol: COL17A1
• Synonyms (NCBI Gene): BA16H23.2, BP180, BPA-2, BPAG2, ERED, JEB4, LAD-1
• Chromosome: 10
• Chromosome location: 10q25.1
• Summary: This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912769	G>A	Pathogenic	Stop gained, coding sequence variant
rs121912770	G>A	Pathogenic	Stop gained, coding sequence variant
rs121912771	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912772	A>C	Pathogenic	Stop gained, coding sequence variant
rs121912773	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912774	G>A	Pathogenic	Stop gained, coding sequence variant
rs199527325	C>T	Likely-pathogenic	Splice donor variant
rs201940939	C>T	Likely-pathogenic	Intron variant
rs752317971	C>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs753898533	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs754289857	C>T	Pathogenic	Splice acceptor variant
rs760094345	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs760714959	G>A	Pathogenic	Coding sequence variant, synonymous variant
rs765243124	CTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs767083273	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs775196743	G>A	Pathogenic	Coding sequence variant, stop gained
rs775244527	A>-	Likely-pathogenic	Splice donor variant
rs775251483	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045084	CCCTCTGAAAAC>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs797045142	G>A	Pathogenic	Coding sequence variant, missense variant
rs886041555	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793760	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691753	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1210666598	CAGGGGGTC>C,G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1240465846	G>A	Pathogenic	Stop gained, coding sequence variant
rs1478395810	T>C	Likely-pathogenic	Splice acceptor variant
rs1554847822	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554849445	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554850239	C>T	Pathogenic	Stop gained, coding sequence variant
rs1589562891	C>A	Pathogenic	Splice acceptor variant
rs1589567772	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1589572214	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022276	hsa-miR-124-3p	Microarray	18668037
MIRT1967701	hsa-miR-3942-3p	CLIP-seq
MIRT2203520	hsa-miR-1197	CLIP-seq
MIRT2203521	hsa-miR-28-5p	CLIP-seq
MIRT2203522	hsa-miR-3139	CLIP-seq
MIRT2203523	hsa-miR-4652-3p	CLIP-seq
MIRT2203524	hsa-miR-708	CLIP-seq
MIRT2447429	hsa-miR-298	CLIP-seq
MIRT2447430	hsa-miR-4303	CLIP-seq
MIRT2447431	hsa-miR-4682	CLIP-seq
MIRT2447432	hsa-miR-4802-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12482924, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS	9012408
GO:0005911	Component	Cell-cell junction	TAS	9012408
GO:0007160	Process	Cell-matrix adhesion	TAS	9012408
GO:0008544	Process	Epidermis development	TAS	9012408
GO:0016020	Component	Membrane	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231
GO:0030056	Component	Hemidesmosome	IBA
GO:0030056	Component	Hemidesmosome	IDA	12482924
GO:0030056	Component	Hemidesmosome	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315
GO:0031012	Component	Extracellular matrix	IBA
GO:0031581	Process	Hemidesmosome assembly	IDA	12482924
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 113811
• HGNC: 2194
• e!Ensembl: ENSG00000065618

Protein

• UniProt ID: Q9UMD9
• Protein name: Collagen alpha-1(XVII) chain (180 kDa bullous pemphigoid antigen 2) (Bullous pemphigoid antigen 2) [Cleaved into: 120 kDa linear IgA disease antigen (120 kDa linear IgA dermatosis antigen) (Linear IgA disease antigen 1) (LAD-1); 97 kDa linear IgA disease
• Protein function: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.; The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal co
• PDB: 8IZS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	561 → 624	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	749 → 809	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1434 → 1488	Collagen triple helix repeat (20 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Detected in skin (PubMed:8618013). In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level) (PubMed:25676728). Stratified squamous epithelia. Foun
• Sequence:

  MDVTKKNKRDGTEVTERIVTETVTTRLTSLPPKGGTSNGYAKTASLGGGSRLEKQSLTHG
  SSGYINSTGSTRGHASTSSYRRAHSPASTLPNSPGSTFERKTHVTRHAYEGSSSGNSSPE
  YPRKEFASSSTRGRSQTRESEIRVRLQSASPSTRWTELDDVKRLLKGSRSASVSPTRNSS
  NTLPIPKKGTVETKIVTASSQSVSGTYDATILDANLPSHVWSSTLPAGSSMGTYHNNMTT
  QSSSLLNTNAYSAGSVFGVPNNMASCSPTLHPGLSTSSSVFGMQNNLAPSLTTLSHGTTT
  TSTAYGVKKNMPQSPAAVNTGVSTSAACTTSVQSDDLLHKDCKFLILEKDNTPAKKEMEL
  LIMTKDSGKVFTASPASIAATSFSEDTLKKEKQAAYNADSGLKAEANGDLKTVSTKGKTT
  TADIHSYGSSGGGGSGGGGGVGGAGGGPWGPAPAWCPCGSCCSWWKWLLGLLLTWLLLLG
  LLFGLIALAEEVRKLKARVDELERIRRSILPYGDSMDRIEKDRLQGMAPAAGADLDKIGL
  HSDSQEELWMFVRKKLMMEQENGNLRGSPGPKGDMGSPGPKGDRGFPGTPGIPGPLGHPG
  PQGPKGQKGSVGDPGMEGPMGQRGREGPMGPRGEAGPPGSGEKGERGAAGEPGPHGPPGV
  PGSVGPKGSSGSPGPQGPPGPVGLQGLRGEVGLPGVKGDKGPMGPPGPKGDQGEKGPRGL
  TGEPGMRGLPGAVGEPGAKGAMGPAGPDGHQGPRGEQGLTGMPGIRGPPGPSGDPGKPGL
  TGPQGPQGLPGTPGRPGIKGEPGAPGKIVTSEGSSMLTVPGPPGPPGAMGPPGPPGAPGP
  AGPAGLPGHQEVLNLQGPPGPPGPRGPPGPSIPGPPGPRGPPGEGLPGPPGPPGSFLSNS
  ETFLSGPPGPPGPPGPKGDQGPPGPRGHQGEQGLPGFSTSGSSSFGLNLQGPPGPPGPQG
  PKGDKGDPGVPGALGIPSGPSEGGSSSTMYVSGPPGPPGPPGPPGSISSSGQEIQQYISE
  YMQSDSIRSYLSGVQGPPGPPGPPGPVTTITGETFDYSELASHVVSYLRTSGYGVSLFSS
  SISSEDILAVLQRDDVRQYLRQYLMGPRGPPGPPGASGDGSLLSLDYAELSSRILSYMSS
  SGISIGLPGPPGPPGLPGTSYEELLSLLRGSEFRGIVGPPGPPGPPGIPGNVWSSISVED
  LSSYLHTAGLSFIPGPPGPPGPPGPRGPPGVSGALATYAAENSDSFRSELISYLTSPDVR
  SFIVGPPGPPGPQGPPGDSRLLSTDASHSRGSSSSSHSSSVRRGSSYSSSMSTGGGGAGS
  LGAGGAFGEAAGDRGPYGTDIGPGGGYGAAAEGGMYAGNGGLLGADFAGDLDYNELAVRV
  SESMQRQGLLQGMAYTVQGPPGQPGPQGPPGISKVFSAYSNVTADLMDFFQTYGAIQGPP
  GQKGEMGTPGPKGDRGPAGPPGHPGPPGPRGHKGEKGDKGDQVYAGRRRRRSIAVKP

• Sequence length: 1497

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Collagen biosynthesis and modifying enzymes
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Assembly of collagen fibrils and other multimeric structures
Type I hemidesmosome assembly
Collagen chain trimerization

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	Likely pathogenic; Pathogenic	rs1237394833	RCV001814335	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta	Pathogenic	rs1295957061, rs2086265807, rs2493339279	RCV003482917 RCV003883505 RCV003883506	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta - hypoplastic autosomal dominant - local	Likely pathogenic	rs531930614	RCV004527426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta type 1A	Likely pathogenic; Pathogenic	rs766864711, rs1224647778, rs771188543, rs2493278474, rs2134567157, rs765243124, rs2493375263, rs2493333188, rs751749614, rs2493307366, rs2493294655, rs2086331407, rs199527325, rs1564685400	RCV003314753 RCV003314764 RCV003314766 RCV003314767 RCV003314768 RCV003314770 RCV003314771 RCV003314772 RCV003314773 RCV003314774 RCV003314775 RCV003314776 RCV003314641 RCV003314672	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL17A1-related disorder	Likely pathogenic; Pathogenic	rs2086256572, rs766864711, rs2493327107, rs2493277518, rs147734242, rs121912771, rs765243124, rs775244527	RCV003399147 RCV004744636 RCV003399540 RCV003392893 RCV004742374 RCV004742230 RCV003396313 RCV004742630	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corneal dystrophy	Pathogenic	rs760714959	RCV003447515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa, junctional 4, intermediate	Likely pathogenic; Pathogenic	rs760697124, rs2086256572, rs773423028, rs754247557, rs766864711, rs1195164931, rs886041555, rs1380132254, rs2493277518, rs1295957061, rs373469159, rs2493312925, rs1215427707, rs369035370, rs112151584, rs752317971, rs113218289, rs147734242, rs1564677437, rs121912769, rs2493273125, rs1564673127, rs121912770, rs753898533, rs121912771, rs1589562891, rs2134563935, rs2134581672, rs121912772, rs121912773, rs121912774, rs2493300850, rs1064793760, rs201940939, rs1554848576, rs1210666598, rs760094345, rs199527325, rs765243124, rs775244527, rs1478395810	RCV003446917 RCV002291305 RCV002279944 RCV002285206 RCV005028339 RCV003142433 RCV003992256 RCV003323273 RCV005055218 RCV003444430 RCV005030115 RCV005030184 RCV005030211 RCV005030217 RCV005036998 RCV002279955 RCV005392710 RCV005025448 RCV003990326 RCV002279920 RCV002279921 RCV002279922 RCV002279923 RCV002279924 RCV002279925 RCV002279926 RCV002279927 RCV002279928 RCV002279929 RCV002279930 RCV002279931 RCV004547225 RCV003989535 RCV005208138 RCV005027698 RCV005027728 RCV003444654 RCV003333755 RCV005029404 RCV003989120 RCV002279941	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epithelial recurrent erosion dystrophy	Likely pathogenic; Pathogenic	rs760697124, rs1274167395, rs797045142, rs760714959, rs766864711, rs2493294749, rs373469159, rs2493312925, rs1215427707, rs369035370, rs112151584, rs113218289, rs147734242, rs121912771, rs1554848576, rs1210666598, rs199527325, rs765243124, rs775244527, rs768415627, rs1564685400	RCV005023253 RCV002249371 RCV000190896 RCV000190897 RCV005028339 RCV003333855 RCV005030115 RCV005030184 RCV005030211 RCV005030217 RCV005036998 RCV005392710 RCV005025448 RCV002247369 RCV005027698 RCV005027728 RCV005392335 RCV004596333 RCV005036089 RCV001197378 RCV001197379	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa	Pathogenic; Likely pathogenic	rs373469159, rs2086249404, rs751058779, rs2086256572, rs768705886, rs2086359795, rs2086520075, rs121912769, rs754289857, rs775196743, rs1554848576, rs1210666598, rs775244527, rs2086266709	RCV001352791 RCV001352790 RCV001352742 RCV001352740 RCV001352739 RCV001352738 RCV001352736 RCV001352741 RCV001824762 RCV005239089 RCV001352737 RCV000604168 RCV003235384 RCV001250156	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa, non-Herlitz type	Pathogenic; Likely pathogenic	rs1564684815, rs945600680, rs2134567157, rs763578030, rs2134611028, rs797045084, rs2493375635, rs752317971, rs1064793760, rs775196743, rs760094345, rs775244527, rs1478395810, rs1589572214	RCV001331280 RCV001528110 RCV001823566 RCV001823665 RCV002238740 RCV000190573 RCV003388764 RCV000376543 RCV000625554 RCV000991294 RCV000710066 RCV000761266 RCV000778270 RCV000991295	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMELOGENESIS IMPERFECTA, TYPE IA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA NON-HERLITZ TYPE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUNCTIONAL EPIDERMOLYSIS BULLOSA MITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Late-onset junctional epidermolysis bullosa	Uncertain significance	ClinVar Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA, NON-HERLITZ TYPE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOCALIZED NON-HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	8874389		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15609083		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	10577906, 10951237, 8669466		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	CLINVAR_DG	10636730, 11406649, 12813757, 14614394, 16354180, 19340010, 21357940, 9077475, 9204958		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	UNIPROT_DG	10652291, 10951237, 11912005, 8669466, 9199555		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	CTD_human_DG	24550734		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	31383286		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	16820943, 26502894, 27558265		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	26502894	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	8669466		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	31383286		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	28813618	Associate	★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	39376555	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	16820943		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	20471095	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24167818, 28101965, 29276517, 30904079, 8710911		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	28751461	Associate	★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	11406649, 11710917, 21685452, 22318390, 32235430, 33805154	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27891193, 32964046, 34293053, 37178414	Associate	★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	10417629, 10867809, 10959044, 11040070, 11916132, 12445194, 1324962, 14987253, 15008985, 1512461, 15175032, 15451475, 15725571, 15841177, 16403098, 1698819, 1748679, 17596158, 17657247, 17879094, 18400063, 19812601, 20713186, 21782980, 24167818, 25255430, 26603373, 27650606, 27709645, 27716903, 27829102, 28012821, 28101965, 28135772, 28207018, 28211077, 28247089, 28261030, 28273946, 28351660, 28590036, 28677172, 28833620, 29071428, 29276517, 29299596, 29335495, 29411416, 29423547, 29545809, 29588155, 29599777, 29607480, 29619029, 29686678, 29706950, 29868591, 29881377, 30042946, 30062977, 30219389, 30220011, 30315657, 30315782, 30325326, 30375213, 30394605, 30426510, 30762788, 30863396, 30904079, 30928465, 31175713, 31191560, 31211701, 31275298, 31297116, 31312206, 31474998, 31603994, 31824475, 8182134, 8250577, 8592065, 8884529, 9077469, 9326393, 9687525		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	LHGDN	14962097, 15734283, 16117787, 17657247, 17920818, 18571472		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	9424087	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	40379788	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27891193	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31449902	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	26603373, 30863396		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	15081423		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	24167818		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37803411	Associate	★☆☆☆☆ Found in Text Mining only
Congenital leukocyte adherence deficiency	Congenital Leukocyte Adherence Deficiency	BEFREE	10936446, 25514840		★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	8791519		★☆☆☆☆ Found in Text Mining only
Congenital pyloric atresia	Congenital pyloric atresia	BEFREE	10367729		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	27309958	Associate	★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	27309958, 31301286		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	24167818		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	16820943		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29866844		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	37540585	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	11040070, 12667682, 16906396, 25676728, 27709645, 28261030, 28833620, 29866844, 31474998, 9326393		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35958564	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31297116		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	16252234, 9038345	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	10367729, 16252234, 17476356, 17657247, 20574443, 26786512, 9254855, 9620484, 9804354		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	LHGDN	11912005, 15009107, 16354180, 16417243, 17657247		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	16252234, 17476356, 20574443, 21685452, 36578049, 39636096	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	24007552	Stimulate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	10330419, 10577906, 10636730, 10951237, 11851893, 15008985, 16354180, 21357940, 23958762, 33764477, 33805154, 35490295, 38157931, 38522573, 39636096, 8629821, 8669466, 9012408, 9038345, 9077469, 9077475, 9199555, 9204958, 9457913, 9457914, 9740252, 9804354	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	7883981	Inhibit	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Pruriginosa	Dystrophic epidermolysis bullosa	Pubtator	36578049	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	11851893, 12485428, 15377356, 1686013		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	11851893	Associate	★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)	Epidermolysis Bullosa	CTD_human_DG	24550734		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)	Epidermolysis Bullosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epithelial Recurrent Erosion Dystrophy	Epithelial Erosion Dystrophy	GENOMICS_ENGLAND_DG	14562173		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epithelial Recurrent Erosion Dystrophy	Epithelial Erosion Dystrophy	BEFREE	25676728, 26786512, 27309958, 29708937, 31301286		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epithelial Recurrent Erosion Dystrophy	Epithelial Erosion Dystrophy	ORPHANET_DG	25676728		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epithelial Recurrent Erosion Dystrophy	Epithelial Erosion Dystrophy	UNIPROT_DG	25676728		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epithelial recurrent erosion dystrophy	Epithelial Erosion Dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epithelial Recurrent Erosion Dystrophy	Epithelial Erosion Dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epithelial Recurrent Erosion Dystrophy	Epithelial Erosion Dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Excessive tearing	Excessive Tearing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	30320585		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29156757		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29156757		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	8791519		★☆☆☆☆ Found in Text Mining only
Hyperhidrosis Palmaris Et Plantaris	Hyperhidrosis Palmaris Et Plantaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28487959, 28787190		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	31330562		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27650606		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29545809, 29866844		★☆☆☆☆ Found in Text Mining only
Intermediate generalized junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	BEFREE	10330419, 10636730, 11168815, 11244233, 11406649, 11912005, 12631245, 14614394, 14962091, 15008985, 15009107, 15377356, 16172808, 16354180, 16820943, 17263807, 17596158, 21357940, 22318390, 28087116, 28365758, 30016581, 7550320, 7883981, 8669466, 8791519, 9012408, 9077475, 9199555, 9204958, 9284104, 9457913, 9457914, 9521865, 9640376, 9666835, 9690563, 9740252, 9804354		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	10577906, 10951237		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngo onycho cutaneous syndrome	Laryngo-onycho-cutaneous syndrome	Pubtator	38157931	Associate	★☆☆☆☆ Found in Text Mining only
Late-onset junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa	ORPHANET_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Late-onset junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	11040070, 11213799, 11753075, 19437145, 24338230, 25106692		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	9284104	Associate	★☆☆☆☆ Found in Text Mining only
Localized junctional epidermolysis bullosa	Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31713298	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31173193		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20713186, 26603373		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28723760, 31435021		★☆☆☆☆ Found in Text Mining only
Mixed Connective Tissue Disease	Mixed connective tissue disease	Pubtator	22053914	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	LHGDN	18992722		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30315782		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	33764477	Associate	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4	Nail Diseases	CLINVAR_DG			★☆☆☆☆ 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
Nasal Polyps	Nasal polyp	Pubtator	24167818	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11163115		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27650606		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31449902		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31173193		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28611293, 35722628, 36275722, 40486509	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26603373, 28677172		★☆☆☆☆ Found in Text Mining only
Pemphigoid Benign Mucous Membrane	Benign mucous membrane pemphigoid	Pubtator	22053914, 8592065	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	11710917, 12445194, 1324962, 14962097, 15008985, 16424234, 1846881, 20471095, 21488867, 23337823, 24167818, 25255430, 28273946, 28351660, 30484821, 30837635, 31474998, 31824475, 32399091, 35958564, 35958577, 35967298, 36430582, 39226901, 7790367, 8592065, 8710911, 8884529, 9077469, 9326393, 9854043	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigoid, Benign Mucous Membrane	Mucous membrane pemphigoid	BEFREE	11916132, 16403100, 8592065		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	22053914	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	28012821		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	22053914, 23936217, 31774569		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	23000144		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	19912557		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	25876705		★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	BEFREE	26786512, 27309958		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	14962097, 30837635, 31449902, 33805154	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases Vesiculobullous	Skin disease	Pubtator	8592065	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	29423547		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30837635		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	8874389		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27891193	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	8874389		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	16906396, 18633319		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39354571	Associate	★☆☆☆☆ Found in Text Mining only
Thiel-Behnke corneal dystrophy	Thiel-Behnke Corneal Dystrophy	BEFREE	14562173		★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	8669466	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31713298	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	27829102		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27891193	Associate	★☆☆☆☆ Found in Text Mining only