COL7A1 (collagen type VII alpha 1 chain)

Gene

• Entrez ID: 1294
• Gene name: Collagen type VII alpha 1 chain
• Gene symbol: COL7A1
• Synonyms (NCBI Gene): EBD1, EBDCT, EBR1, NDNC8
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs79378857	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs116005007	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121912828	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912829	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912830	G>A,T	Pathogenic, likely-benign	Non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs121912831	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs121912832	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912833	C>A,G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912834	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912835	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912836	C>A,T	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121912837	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912838	C>T	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121912839	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912840	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912842	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912843	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912844	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912846	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912847	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912848	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912849	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912850	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912851	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs121912852	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, intron variant
rs121912853	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, missense variant
rs121912854	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912855	G>A	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912856	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs139318843	G>A	Likely-pathogenic	Downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs142566193	G>A	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs144023803	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs147040026	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs149267939	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200972872	C>T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs201728948	C>T	Pathogenic	Missense variant, synonymous variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs368007918	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs368529673	C>T	Pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs387906605	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs573432153	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs730880286	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs745874032	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, genic downstream transcript variant
rs746056280	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs747081862	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs747522386	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs747912732	->C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs749256529	G>-,GG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs751535193	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs752558942	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs756217590	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs757406252	->A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs757415879	G>A,T	Pathogenic	Stop gained, non coding transcript variant, synonymous variant, coding sequence variant
rs757688782	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs758886532	G>A	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs759990189	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs760891216	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs761234904	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs762162799	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs765034336	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs765699235	TCCATGTAGGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs766902987	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs767182886	C>T	Pathogenic	Splice donor variant
rs767539005	C>T	Likely-pathogenic	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs768128088	->G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs768326843	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs770216458	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs772381373	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs772756089	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs773263825	A>C,G	Likely-pathogenic	Intron variant
rs774332349	C>T	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs775288140	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs775496394	G>-,GG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs776841521	C>A,T	Likely-pathogenic	Splice donor variant
rs778165989	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs780261665	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs780623622	G>-,GG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786204774	C>A	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs786205561	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs866061439	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886039328	C>T	Pathogenic	3 prime UTR variant, non coding transcript variant, synonymous variant, genic downstream transcript variant, missense variant, coding sequence variant
rs886039329	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs886039330	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs886039562	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886041186	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886041187	C>T	Pathogenic	Splice acceptor variant
rs886041189	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs886041417	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041885	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886044621	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886058642	C>T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs916512411	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs988031901	C>T	Pathogenic	Downstream transcript variant, intron variant, genic downstream transcript variant
rs1013627013	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs1055680335	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057517720	->TCCA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517721	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517722	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517724	C>G	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057517725	TC>AT	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057517726	T>C	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1057517969	C>G	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057518706	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs1057518863	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057520530	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520566	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520567	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520599	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520693	C>A	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064793904	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064793908	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1064793915	C>G	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064793916	G>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1064795917	->TGGT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797078	T>C	Pathogenic	Initiator codon variant, missense variant, non coding transcript variant
rs1064797079	->TCAG	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, inframe indel
rs1064797080	TTCG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797081	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064797082	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307849	GG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691385	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691559	C>G	Pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1203706188	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs1211890738	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1299648939	C>G,T	Pathogenic	Splice acceptor variant
rs1336602322	C>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant
rs1342522878	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, synonymous variant, downstream transcript variant
rs1342925232	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1349541188	C>A,T	Pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs1365148358	A>G	Likely-pathogenic	Splice donor variant
rs1368134215	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1553612617	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553612928	T>C	Likely-pathogenic	Splice acceptor variant
rs1553613303	->GTTCCTGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553613528	A>C,G	Pathogenic	Splice donor variant
rs1553614878	C>G	Pathogenic	Splice acceptor variant
rs1553849789	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1553851245	G>A	Pathogenic	Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, stop gained, 3 prime UTR variant, coding sequence variant
rs1553853012	TTCTCCTTTAGGTCCGACAGGGCCAGG>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, inframe deletion, coding sequence variant
rs1553853022	CCAGGTTCTCCTTTAG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1553854678	C>T	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs1553855868	C>A	Pathogenic	Splice acceptor variant
rs1553855974	->GGAGGCCC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553860378	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1553862581	C>T	Pathogenic	Splice donor variant
rs1559423385	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1559435706	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559444716	T>C	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant
rs1560219171	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1560241522	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575418015	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1575425011	G>-	Likely-pathogenic	Downstream transcript variant, frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575430201	C>T	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1575437481	C>AT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575439903	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575442301	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575442816	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575442885	C>T	Likely-pathogenic	Splice acceptor variant
rs1575466699	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575467199	C>A	Pathogenic	Splice donor variant
rs1575470363	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575472776	->TGAATATGTC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575494051	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575495784	C>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006382	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006382	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006382	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT053739	hsa-miR-29b-3p	Microarray	22942087
MIRT903179	hsa-miR-1207-5p	CLIP-seq
MIRT903180	hsa-miR-3126-5p	CLIP-seq
MIRT903181	hsa-miR-3170	CLIP-seq
MIRT903182	hsa-miR-4722-5p	CLIP-seq
MIRT903183	hsa-miR-4727-5p	CLIP-seq
MIRT903184	hsa-miR-4728-5p	CLIP-seq
MIRT903185	hsa-miR-4736	CLIP-seq
MIRT903186	hsa-miR-4755-3p	CLIP-seq
MIRT903187	hsa-miR-4763-3p	CLIP-seq
MIRT903188	hsa-miR-4769-3p	CLIP-seq
MIRT1967802	hsa-miR-29a	CLIP-seq
MIRT1967803	hsa-miR-29b	CLIP-seq
MIRT1967804	hsa-miR-29c	CLIP-seq
MIRT2506714	hsa-miR-1251	CLIP-seq
MIRT2506715	hsa-miR-191	CLIP-seq
MIRT1967802	hsa-miR-29a	CLIP-seq
MIRT1967803	hsa-miR-29b	CLIP-seq
MIRT1967804	hsa-miR-29c	CLIP-seq
MIRT903180	hsa-miR-3126-5p	CLIP-seq
MIRT903184	hsa-miR-4728-5p	CLIP-seq
MIRT2506716	hsa-miR-4731-3p	CLIP-seq
MIRT2506717	hsa-miR-4801	CLIP-seq
MIRT2506718	hsa-miR-574-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	10086338
RELA	Unknown	10086338
SMAD3	Unknown	9843964
SMAD4	Unknown	9843964
SP1	Unknown	10980546;9092567

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	19269366
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005590	Component	Collagen type VII trimer	TAS	9375848
GO:0005604	Component	Basement membrane	IBA
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	TAS	9375848
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0008544	Process	Epidermis development	TAS	8170945
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	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 28675934
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389

Other IDs

• MIM: 120120
• HGNC: 2214
• e!Ensembl: ENSG00000114270

Protein

• UniProt ID: Q02388
• Protein name: Collagen alpha-1(VII) chain (Long-chain collagen) (LC collagen)
• Protein function: Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collage
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00092	VWA	38 → 209	von Willebrand factor type A domain	Domain
  PF00041	fn3	233 → 318	Fibronectin type III domain	Domain
  PF00041	fn3	331 → 407	Fibronectin type III domain	Domain
  PF00041	fn3	419 → 492	Fibronectin type III domain	Domain
  PF00041	fn3	509 → 587	Fibronectin type III domain	Domain
  PF00041	fn3	599 → 677	Fibronectin type III domain	Domain
  PF00041	fn3	687 → 765	Fibronectin type III domain	Domain
  PF00041	fn3	777 → 855	Fibronectin type III domain	Domain
  PF00041	fn3	868 → 946	Fibronectin type III domain	Domain
  PF00092	VWA	1054 → 1227	von Willebrand factor type A domain	Domain
  PF01391	Collagen	1251 → 1310	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1296 → 1361	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1449 → 1504	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1489 → 1548	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2034 → 2099	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2099 → 2158	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2257 → 2321	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2317 → 2374	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2373 → 2430	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2407 → 2465	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2466 → 2524	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2526 → 2584	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2563 → 2639	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2617 → 2694	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2722 → 2787	Collagen triple helix repeat (20 copies)	Repeat
  PF00014	Kunitz_BPTI	2875 → 2930	Kunitz/Bovine pancreatic trypsin inhibitor domain	Domain

• Sequence:

  MTLRLLVAALCAGILAEAPRVRAQHRERVTCTRLYAADIVFLLDGSSSIGRSNFREVRSF
  LEGLVLPFSGAASAQGVRFATVQYSDDPRTEFGLDALGSGGDVIRAIRELSYKGGNTRTG
  AAILHVADHVFLPQLARPGVPKVCILITDGKSQDLVDTAAQRLKGQGVKLFAVGIKNADP
  EELKRVASQPTSDFFFFVNDFSILRTLLPLVSRRVCTTAGGVPVTRPPDDSTSAPRDLVL
  SEPSSQSLRVQWTAASGPVTGYKVQYTPLTGLGQPLPSERQEVNVPAGETSVRLRGLRPL
  TEYQVTVIALYANSIGEAVSGTARTTALEGPELTIQNTTAHSLLVAWRSVPGATGYRVTW
  RVLSGGPTQQQELGPGQGSVLLRDLEPGTDYEVTVSTLFGRSVGPATSLMARTDASVEQT
  LRPVILGPTSILLSWNLVPEARGYRLEWRRETGLEPPQKVVLPSDVTRYQLDGLQPGTEY
  RLTLYTLLEGHEVATPATVVPTGPELPVSPVTDLQATELPGQRVRVSWSPVPGATQYRII
  VRSTQGVERTLVLPGSQTAFDLDDVQAGLSYTVRVSARVGPREGSASVLTVRREPETPLA
  VPGLRVVVSDATRVRVAWGPVPGASGFRISWSTGSGPESSQTLPPDSTATDITGLQPGTT
  YQVAVSVLRGREEGPAAVIVARTDPLGPVRTVHVTQASSSSVTITWTRVPGATGYRVSWH
  SAHGPEKSQLVSGEATVAELDGLEPDTEYTVHVRAHVAGVDGPPASVVVRTAPEPVGRVS
  RLQILNASSDVLRITWVGVTGATAYRLAWGRSEGGPMRHQILPGNTDSAEIRGLEGGVSY
  SVRVTALVGDREGTPVSIVVTTPPEAPPALGTLHVVQRGEHSLRLRWEPVPRAQGFLLHW
  QPEGGQEQSRVLGPELSSYHLDGLEPATQYRVRLSVLGPAGEGPSAEVTARTESPRVPSI
  ELRVVDTSIDSVTLAWTPVSRASSYILSWRPLRGPGQEVPGSPQTLPGISSSQRVTGLEP
  GVSYIFSLTPVLDGVRGPEASVTQTPVCPRGLADVVFLPHATQDNAHRAEATRRVLERLV
  LALGPLGPQAVQVGLLSYSHRPSPLFPLNGSHDLGIILQRIRDMPYMDPSGNNLGTAVVT
  AHRYMLAPDAPGRRQHVPGVMVLLVDEPLRGDIFSPIREAQASGLNVVMLGMAGADPEQL
  RRLAPGMDSVQTFFAVDDGPSLDQAVSGLATALCQASFTTQPRPEPCPVYCPKGQKGEPG
  EMGLRGQVGPPGDPGLPGRTGAPGPQGPPGSATAKGERGFPGADGRPGSPGRAGNPGTPG
  APGLKGSPGLPGPRGDPGERGPRGPKGEPGAPGQVIGGEGPGLPGRKGDPGPSGPPGPRG
  PLGDPGPRGPPGLPGTAMKGDKGDRGERGPPGPGEGGIAPGEPGLPGLPGSPGPQGPVGP
  PGKKGEKGDSEDGAPGLPGQPGSPGEQGPRGPPGAIGPKGDRGFPGPLGEAGEKGERGPP
  GPAGSRGLPGVAGRPGAKGPEGPPGPTGRQGEKGEPGRPGDPAVVGPAVAGPKGEKGDVG
  PAGPRGATGVQGERGPPGLVLPGDPGPKGDPGDRGPIGLTGRAGPPGDSGPPGEKGDPGR
  PGPPGPVGPRGRDGEVGEKGDEGPPGDPGLPGKAGERGLRGAPGVRGPVGEKGDQGDPGE
  DGRNGSPGSSGPKGDRGEPGPPGPPGRLVDTGPGAREKGEPGDRGQEGPRGPKGDPGLPG
  APGERGIEGFRGPPGPQGDPGVRGPAGEKGDRGPPGLDGRSGLDGKPGAAGPSGPNGAAG
  KAGDPGRDGLPGLRGEQGLPGPSGPPGLPGKPGEDGKPGLNGKNGEPGDPGEDGRKGEKG
  DSGASGREGRDGPKGERGAPGILGPQGPPGLPGPVGPPGQGFPGVPGGTGPKGDRGETGS
  KGEQGLPGERGLRGEPGSVPNVDRLLETAGIKASALREIVETWDESSGSFLPVPERRRGP
  KGDSGEQGPPGKEGPIGFPGERGLKGDRGDPGPQGPPGLALGERGPPGPSGLAGEPGKPG
  IPGLPGRAGGVGEAGRPGERGERGEKGERGEQGRDGPPGLPGTPGPPGPPGPKVSVDEPG
  PGLSGEQGPPGLKGAKGEPGSNGDQGPKGDRGVPGIKGDRGEPGPRGQDGNPGLPGERGM
  AGPEGKPGLQGPRGPPGPVGGHGDPGPPGAPGLAGPAGPQGPSGLKGEPGETGPPGRGLT
  GPTGAVGLPGPPGPSGLVGPQGSPGLPGQVGETGKPGAPGRDGASGKDGDRGSPGVPGSP
  GLPGPVGPKGEPGPTGAPGQAVVGLPGAKGEKGAPGGLAGDLVGEPGAKGDRGLPGPRGE
  KGEAGRAGEPGDPGEDGQKGAPGPKGFKGDPGVGVPGSPGPPGPPGVKGDLGLPGLPGAP
  GVVGFPGQTGPRGEMGQPGPSGERGLAGPPGREGIPGPLGPPGPPGSVGPPGASGLKGDK
  GDPGVGLPGPRGERGEPGIRGEDGRPGQEGPRGLTGPPGSRGERGEKGDVGSAGLKGDKG
  DSAVILGPPGPRGAKGDMGERGPRGLDGDKGPRGDNGDPGDKGSKGEPGDKGSAGLPGLR
  GLLGPQGQPGAAGIPGDPGSPGKDGVPGIRGEKGDVGFMGPRGLKGERGVKGACGLDGEK
  GDKGEAGPPGRPGLAGHKGEMGEPGVPGQSGAPGKEGLIGPKGDRGFDGQPGPKGDQGEK
  GERGTPGIGGFPGPSGNDGSAGPPGPPGSVGPRGPEGLQGQKGERGPPGERVVGAPGVPG
  APGERGEQGRPGPAGPRGEKGEAALTEDDIRGFVRQEMSQHCACQGQFIASGSRPLPSYA
  ADTAGSQLHAVPVLRVSHAEEEERVPPEDDEYSEYSEYSVEEYQDPEAPWDSDDPCSLPL
  DEGSCTAYTLRWYHRAVTGSTEACHPFVYGGCGGNANRFGTREACERRCPPRVVQSQGTG
  TAQD

• Sequence length: 2944

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
COPII-mediated vesicle transport
Integrin cell surface interactions
Anchoring fibril formation
Laminin interactions
Cargo concentration in the ER
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
Abnormal blistering of the skin	Likely pathogenic; Pathogenic	rs121912855, rs780261665	RCV000626608 RCV000626602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the skin	Likely pathogenic; Pathogenic	rs2107667545, rs2044195570, rs2107755031, rs780261665, rs121912856, rs767539005	RCV001814535 RCV001814492 RCV001814565 RCV000626601 RCV000626605 RCV001814231	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL7A1-related disorder	Pathogenic; Likely pathogenic	rs759949767, rs765529435, rs1560232515, rs2107718927, rs759634066, rs748940147, rs2107671960, rs2107660525, rs2107633400, rs2107631988, rs2107641787, rs753368984, rs1261268687, rs757715378, rs2107661505, rs2107697174, rs1233025207, rs2044234082, rs143457874, rs760891216, rs886041186, rs766902987, rs2531047469, rs775288140, rs1575418015, rs121912844, rs745318365, rs2531333188, rs2530843515, rs757415879, rs886058642, rs2530977941, rs2531337541, rs1560204600, rs746056280, rs121912832, rs121912836, rs759990189, rs121912839, rs121912842, rs121912855, rs144023803, rs760063197, rs745874032, rs988031901, rs201728948, rs768128088, rs374718902, rs780261665, rs121912856, rs1064797079, rs757406252, rs200972872, rs139318843, rs1342522878, rs767539005, rs369034739, rs1342925232, rs2043645754	RCV003405591 RCV004528479 RCV004545222 RCV004531193 RCV003898367 RCV004545825 RCV005867173 RCV003900816 RCV003910990 RCV005868372 RCV003892879 RCV003911042 RCV004529068 RCV004752096 RCV003395313 RCV003896072 RCV005869755 RCV004731493 RCV004731298 RCV003920021 RCV004529454 RCV004751409 RCV004751410 RCV004529621 RCV004529632 RCV003408704 RCV003393109 RCV003404684 RCV003402947 RCV004536824 RCV004529559 RCV004751485 RCV004750916 RCV003893727 RCV003904619 RCV003964804 RCV003952360 RCV003924843 RCV003914853 RCV004545732 RCV003894814 RCV003894815 RCV003924844 RCV004751509 RCV003422380 RCV003932531 RCV003922667 RCV004751510 RCV003972555 RCV003409573 RCV004751512 RCV004751221 RCV005869506 RCV004751568 RCV004535558 RCV003925553 RCV003413548 RCV003965570 RCV004751698 RCV004545808 RCV004528411	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dominant dystrophic epidermolysis bullosa with absence of skin	Pathogenic	rs121912841, rs121912832, rs762162799	RCV000144373 RCV000018976 RCV004786689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa	Pathogenic; Likely pathogenic	rs756173722, rs121912842, rs1057517721, rs1553612617	RCV003401778 RCV005241255 RCV004596175 RCV003403367	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa dystrophica	Pathogenic; Likely pathogenic	rs2046013117, rs759579761, rs2043532784, rs2043545754, rs2043546624, rs2043632416, rs759949767, rs2043642775, rs757816953, rs113597796, rs2043678898, rs2043688497, rs2043716834, rs2043739526, rs762084565, rs2043771421, rs1465411279, rs2043785663, rs765529435, rs1249145909, rs2043856489, rs1247022294, rs1189942401, rs983476178, rs2043898537, rs2043899331, rs1800013, rs2044013947, rs1160109522, rs1397883643, rs373768300, rs200382597, rs2044077001, rs2044079243, rs1575434262, rs2044195570, rs2044208810, rs2044208947, rs2044219708, rs1410793870, rs2044224449, rs2044225406, rs2044233322, rs2044234082, rs2044247868, rs2044251759, rs746824716, rs2044302053, rs2044349915, rs2044350714, rs1186291778, rs767182886, rs2044485662, rs778035441, rs2044522375, rs2044523630, rs2044551330, rs1360704374, rs2044604844, rs2044929403, rs2044949727, rs1202682853, rs1401166141, rs2045046700, rs1156352791, rs2045124635, rs2045219860, rs2045220016, rs1241474192, rs2045289296, rs2045324382, rs1205027821, rs1575476280, rs2045388619, rs765353150, rs2045550860, rs1262422383, rs2045631974, rs2045711151, rs1482450152, rs757715378, rs2045866462, rs1235811820, rs1559441291, rs1012398135, rs2045987838, rs2044357264, rs2044681542, rs756897026, rs2045352552, rs2045393864, rs759455445, rs2045775921, rs2045934591, rs1001774733, rs1299648939, rs1333259313, rs759644973, rs371908708, rs753185460, rs1486141784, rs2045385688, rs2107710536, rs1221546428, rs2044175577, rs776841521, rs786204774, rs1654732346, rs1267995796, rs886039330, rs886041187, rs368007918, rs886041186, rs766902987, rs2531148361, rs2043693244, rs2531351123, rs757415879, rs886058642, rs773146110, rs1284183246, rs746056280, rs121912832, rs121912833, rs121912835, rs121912836, rs759990189, rs121912839, rs121912844, rs121912845, rs121912849, rs121912851, rs121912852, rs121912853, rs121912854, rs121912855, rs758886532, rs144023803, rs1057517723, rs760063197, rs916512411, rs772381373, rs768128088, rs374718902, rs762162799, rs121912856, rs1064793916, rs780623622, rs747522386, rs1131691385, rs200972872, rs1553613528, rs139318843, rs1368134215, rs1203706188, rs1211890738, rs1553612928, rs1055680335, rs1560241522, rs751535193, rs767539005, rs1032335328, rs1575466699, rs769294243, rs761927109, rs1295547257, rs765027608, rs770456964, rs746053763, rs2045798629, rs2045526309	RCV001310293 RCV001352717 RCV001352720 RCV001352719 RCV001352718 RCV001352716 RCV001352715 RCV001352713 RCV001352712 RCV001352873 RCV001352872 RCV001352871 RCV001352869 RCV001352868 RCV001352867 RCV001352866 RCV001352865 RCV001352864 RCV001352863 RCV001352862 RCV001352861 RCV001352860 RCV001352858 RCV001352827 RCV001352826 RCV001352825 RCV001352824 RCV001352823 RCV001352819 RCV001352818 RCV001352817 RCV001352816 RCV001352815 RCV001352814 RCV001352813 RCV001352771 RCV001352768 RCV001352767 RCV001352766 RCV001352764 RCV001352765 RCV001352762 RCV001352711 RCV001352710 RCV001352709 RCV001352707 RCV001352706 RCV001352705 RCV001352704 RCV001352703 RCV001352702 RCV001352701 RCV001352699 RCV001352698 RCV001352857 RCV001352856 RCV001352854 RCV001352853 RCV001352850 RCV001352846 RCV001352845 RCV001352844 RCV001352843 RCV001352842 RCV001352811 RCV001352810 RCV001352808 RCV001352807 RCV001352806 RCV001352805 RCV001352804 RCV001352802 RCV001352801 RCV001352800 RCV001352799 RCV001352757 RCV001352756 RCV001352755 RCV001352753 RCV001352752 RCV001352747 RCV001352746 RCV001352745 RCV001352744 RCV001352743 RCV001352697 RCV001352935 RCV001352934 RCV001352933 RCV001352932 RCV001352931 RCV001352929 RCV001352930 RCV001352928 RCV001831341 RCV001831360 RCV005614533 RCV001826179 RCV001826167 RCV001836392 RCV001826162 RCV005614667 RCV001844440 RCV005614736 RCV002221419 RCV002302616 RCV000169655 RCV005616513 RCV005616552 RCV001833297 RCV001352803 RCV001352754 RCV001352749 RCV001352748 RCV005616676 RCV005616679 RCV005616685 RCV000304634 RCV000271699 RCV005407206 RCV004018359 RCV001835630 RCV001831583 RCV001831584 RCV005614376 RCV001352763 RCV001826478 RCV001352821 RCV001352761 RCV001352849 RCV001352769 RCV001826479 RCV001831586 RCV001826480 RCV001352750 RCV001352770 RCV001352700 RCV000779414 RCV000778704 RCV001352848 RCV001249385 RCV001352820 RCV001352936 RCV001828378 RCV001352760 RCV000779415 RCV001833608 RCV001833603 RCV001833612 RCV001352751 RCV001148931 RCV005614416 RCV001352870 RCV001352708 RCV001829484 RCV005614422 RCV000603511 RCV000625955 RCV000714569 RCV001825505 RCV001352773 RCV000778703 RCV001352812 RCV001825596 RCV001352759 RCV001836091 RCV001833679 RCV001192887 RCV001828739 RCV001352851 RCV001352852 RCV001833792 RCV001352797	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa dystrophica inversa, autosomal recessive	Pathogenic; Likely pathogenic	rs143457874, rs760891216, rs757415879, rs121912847, rs121912854, rs121912855, rs1057517723, rs760063197, rs775288140, rs201728948, rs768128088, rs757688782, rs387906604, rs121912856, rs1131691385, rs200972872, rs767182886, rs773263825, rs761234904, rs772756089, rs377182638	RCV001275761 RCV001275768 RCV001272351 RCV001272359 RCV000019013 RCV000019015 RCV001272356 RCV001272357 RCV001273346 RCV001275769 RCV001272346 RCV001272362 RCV000022477 RCV000022479 RCV001273343 RCV001272350 RCV001272354 RCV001272363 RCV001272361 RCV001272342 RCV001278912	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant	Pathogenic; Likely pathogenic	rs121912833, rs201728948, rs121912856, rs200972872	RCV000018982 RCV000018980 RCV000018977 RCV000018979	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa pruriginosa	Likely pathogenic; Pathogenic	rs2107682264, rs1276620073, rs121912855, rs144023803, rs1057518863, rs780261665, rs121912856, rs1064793916, rs1575418015, rs377182638, rs761927109, rs1164917118, rs2043645754, rs2045079112, rs765027608, rs2107680342	RCV005252122 RCV003323340 RCV001199071 RCV004816640 RCV001198317 RCV001198316 RCV001197324 RCV002463680 RCV000991328 RCV000993563 RCV005359851 RCV001197904 RCV001199217 RCV001197322 RCV004789480 RCV001594415	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa pruriginosa, autosomal dominant	Pathogenic	rs121912834, rs121912837, rs121912848, rs1553853022	RCV000018986 RCV000018989 RCV000019006 RCV000018992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa pruriginosa, autosomal recessive	Pathogenic; Likely pathogenic	rs759990189, rs121912847, rs201728948, rs121912856, rs767182886	RCV000018991 RCV000019005 RCV000018981 RCV000018978 RCV000018990	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex 1A, generalized severe	Pathogenic	rs756897026	RCV006258553	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa, pretibial, autosomal recessive	Likely pathogenic; Pathogenic	rs121912845, rs1575495784	RCV000019002 RCV000019003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs200972872	RCV005899797	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Finger syndactyly	Likely pathogenic; Pathogenic	rs1057518863, rs780261665	RCV000415010 RCV000415386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized dominant dystrophic epidermolysis bullosa	Pathogenic; Likely pathogenic	rs2044225406, rs2045388619, rs1235811820, rs2045987838, rs2107671960, rs2107660525, rs2107717803, rs2107703081, rs2107697174, rs2107680342, rs2107675162, rs2107675136, rs2107675021, rs2107674937, rs2107674135, rs2107672816, rs2107672732, rs2107671950, rs2107636606, rs2107636603, rs2107680443, rs2107706848, rs765480571, rs2107659888, rs2107674192, rs866061439, rs766902987, rs121912846, rs121912829, rs746056280, rs121912832, rs121912836, rs121912839, rs121912842, rs121912843, rs121912844, rs121912850, rs121912855, rs144023803, rs768128088, rs1057517722, rs757688782, rs1057518706, rs762162799, rs1553854678, rs761234904, rs776841521, rs1342925232, rs749256529, rs770456964	RCV002276702 RCV002245975 RCV002245974 RCV002245973 RCV002276821 RCV001732867 RCV002277076 RCV002277077 RCV002277078 RCV002277079 RCV002277081 RCV002277082 RCV002277083 RCV002277084 RCV002277085 RCV002277086 RCV002277087 RCV002277089 RCV002277090 RCV002277091 RCV002225232 RCV002244182 RCV002244197 RCV002244235 RCV003994420 RCV002278257 RCV003318570 RCV003239282 RCV003985954 RCV000018970 RCV003318544 RCV004786274 RCV000018988 RCV000408804 RCV000018999 RCV000019000 RCV000019001 RCV000019004 RCV000019008 RCV001251179 RCV003318572 RCV002244860 RCV003318574 RCV003318573 RCV000415126 RCV002278660 RCV002279275 RCV002245038 RCV005253137 RCV002290496 RCV000991419 RCV002245880	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic	rs2530817264	RCV005928576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Pathogenic	rs767539005	RCV005909230	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs775288140	RCV005900652	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs767539005	RCV005897333	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nail dystrophy	Pathogenic	rs780261665, rs121912856	RCV000626601 RCV000626605	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic congenital nail disorder 4	Pathogenic	rs780261665, rs121912856	RCV000626603 RCV000626606	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic congenital nail disorder 8	Pathogenic; Likely pathogenic	rs121912841, rs121912834, rs121912840, rs121912839, rs780623622, rs761927109	RCV000256181 RCV000018985 RCV000022474 RCV000022473 RCV005359745 RCV005359851	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Palmoplantar blistering	Likely pathogenic; Pathogenic	rs1057518863, rs780261665	RCV000415010 RCV000415386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pretibial dystrophic epidermolysis bullosa	Pathogenic; Likely pathogenic	rs2107631937, rs2107671960, rs2107682264, rs2107661505, rs1262051629, rs886041186, rs756217590, rs1276620073, rs121912831, rs121912836, rs1211890738, rs1575418015, rs377182638, rs761927109	RCV005867005 RCV005237928 RCV005252122 RCV003314032 RCV002283913 RCV005252846 RCV005252847 RCV003323340 RCV000018975 RCV001192885 RCV002250661 RCV000991328 RCV000993563 RCV005359851	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recessive dystrophic epidermolysis bullosa	Likely pathogenic; Pathogenic	rs759579761, rs1294265690, rs762084565, rs765529435, rs1249145909, rs1189942401, rs983476178, rs1800013, rs1410793870, rs767182886, rs1156352791, rs2045388619, rs1262422383, rs1235811820, rs2045987838, rs1245411910, rs1333259313, rs370744140, rs1461012195, rs1560232515, rs371908708, rs759634066, rs369591910, rs748940147, rs2044195570, rs2107674323, rs2107731142, rs2107660525, rs1158674229, rs2107702819, rs2107637442, rs34040119, rs2107757949, rs2107706875, rs372166543, rs2045311247, rs2107631988, rs2107641787, rs2107642953, rs2107763474, rs1336686272, rs376588113, rs745691610, rs201597369, rs770304825, rs375539799, rs760460054, rs2107639823, rs753819164, rs146234310, rs2107682264, rs121912841, rs2107670544, rs1480404745, rs2107657132, rs749077987, rs2107631188, rs2107628480, rs2107788093, rs2107760970, rs1256976418, rs2107727475, rs2044824444, rs2107711734, rs2107682223, rs2107674627, rs2107663986, rs781720055, rs2107660536, rs1362309822, rs2107643652, rs2107638590, rs2107632563, rs2107632018, rs2107793500, rs2107661505, rs2107706848, rs765480571, rs2107659888, rs774890570, rs2043644681, rs2530913503, rs2531054735, rs730880285, rs730880286, rs2531155501, rs760891216, rs886039328, rs368007918, rs886041186, rs766902987, rs756217590, rs2530844081, rs1276620073, rs2531202927, rs121912853, rs2531335997, rs886044621, rs2530817264, rs2530879298, rs1002845719, rs2044058094, rs1423231619, rs2531113955, rs2043899331, rs561997536, rs2044200545, rs2531366088, rs2043530046, rs757415879, rs2531347823, rs1560204600, rs2531080753, rs2531148387, rs2531107840, rs1416352336, rs121912828, rs746056280, rs1575470363, rs121912830, rs1575442301, rs1575467199, rs121912836, rs121912840, rs121912839, rs121912843, rs121912844, rs121912845, rs121912847, rs121912849, rs121912851, rs121912852, rs121912854, rs121912855, rs2530892715, rs2530838087, rs1560231816, rs2530978135, rs2531234929, rs758886532, rs144023803, rs760063197, rs775288140, rs772381373, rs201728948, rs768128088, rs757688782, rs780261665, rs121912856, rs1064793916, rs1064797081, rs1064797082, rs1064797079, rs1064797078, rs200972872, rs1368134215, rs747081862, rs1553862581, rs770216458, rs1203706188, rs1553612617, rs1553851245, rs761234904, rs1055680335, rs1342522878, rs751535193, rs767539005, rs1560219171, rs1559423385, rs181430415, rs1032335328, rs1559435706, rs776841521, rs765699235, rs1336602322, rs1575494051, rs1575418015, rs749256529, rs377182638, rs780623622, rs752558942, rs761927109, rs770456964, rs746053763, rs121912833, rs2045526309, rs2044955528, rs2045013494, rs2043547588, rs2043715843, rs2107698884, rs2107717630, rs2107648492, rs1050797523	RCV003135992 RCV005634071 RCV002276707 RCV002276706 RCV002276705 RCV004579573 RCV002276704 RCV002276703 RCV003339611 RCV002276700 RCV001823199 RCV002245975 RCV005634101 RCV002245974 RCV002245973 RCV001823202 RCV002276720 RCV002051943 RCV003328102 RCV005635143 RCV002276722 RCV002276723 RCV005208166 RCV005635173 RCV003328126 RCV001714246 RCV001730025 RCV004798918 RCV002466270 RCV002466271 RCV001806296 RCV001807942 RCV001807956 RCV001808928 RCV001823507 RCV001823535 RCV001823611 RCV001823653 RCV003985860 RCV002276953 RCV002276954 RCV006262339 RCV002276924 RCV002276967 RCV004587247 RCV004699546 RCV004801111 RCV002276956 RCV002276957 RCV002052063 RCV005252122 RCV000225690 RCV002277044 RCV002277045 RCV002277046 RCV002277047 RCV002277049 RCV002277050 RCV002277051 RCV002277052 RCV002277053 RCV002277055 RCV002277057 RCV002277058 RCV002277061 RCV002277062 RCV002277063 RCV002277064 RCV002277065 RCV002277067 RCV002277068 RCV002277069 RCV002277072 RCV002277073 RCV002277075 RCV002277088 RCV002244182 RCV002244197 RCV002244235 RCV004785543 RCV002283712 RCV002283839 RCV002283981 RCV000157650 RCV000157651 RCV002468887 RCV001823128 RCV003989510 RCV001273339 RCV001267646 RCV002278256 RCV001261557 RCV003320014 RCV003323340 RCV003328116 RCV003328130 RCV003334418 RCV005632354 RCV003337846 RCV003338089 RCV003388736 RCV003388751 RCV003388810 RCV003985901 RCV004701730 RCV005407072 RCV005636993 RCV006269863 RCV006269864 RCV002278551 RCV004579622 RCV004011709 RCV006269934 RCV003985986 RCV003985988 RCV003985994 RCV003990517 RCV000018969 RCV000018971 RCV000018972 RCV000018973 RCV000018974 RCV000018983 RCV006261940 RCV000018993 RCV000018998 RCV000760150 RCV002243653 RCV005859470 RCV002276565 RCV000019007 RCV000019009 RCV000019010 RCV000019011 RCV000019014 RCV002276566 RCV004566635 RCV004577304 RCV004577413 RCV004578010 RCV004579644 RCV002278637 RCV000578166 RCV002278636 RCV000503323 RCV002278638 RCV005355702 RCV000454227 RCV002278635 RCV001273337 RCV000760149 RCV002250637 RCV000487447 RCV000487428 RCV000487456 RCV000487444 RCV002279273 RCV005252941 RCV002279308 RCV002279312 RCV002279310 RCV002279311 RCV000578178 RCV005632505 RCV000626021 RCV002245038 RCV000789046 RCV005860140 RCV001253741 RCV000761228 RCV000761301 RCV000761529 RCV005633676 RCV002051892 RCV000785757 RCV006257322 RCV000850363 RCV000987265 RCV000987266 RCV000991328 RCV000991419 RCV000993563 RCV003338900 RCV004789314 RCV005359851 RCV002245880 RCV003148946 RCV002225127 RCV004768965 RCV005633977 RCV001786459 RCV001261560 RCV001261559 RCV001261558 RCV001579314 RCV001580581 RCV001594414 RCV001580585	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature	Likely pathogenic; Pathogenic	rs1057518863, rs780261665	RCV000415010 RCV000415386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin erosion	Pathogenic	rs780261665, rs121912856	RCV000626601 RCV000626605	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2107799999	RCV005925521	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Toe syndactyly	Likely pathogenic; Pathogenic	rs1057518863, rs780261665	RCV000415010 RCV000415386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Transient bullous dermolysis of the newborn	Pathogenic; Likely pathogenic	rs2045631974, rs1235811820, rs2107672698, rs1560232515, rs2045393987, rs759634066, rs1002845719, rs760460054, rs1362309822, rs1050797523, rs2107662258, rs2107665131, rs121912849, rs2107674937, rs112850769, rs2107771861, rs774890570, rs2107741719, rs886039330, rs1276620073, rs121912834, rs121912835, rs1299648939, rs757688782, rs387906605, rs139318843, rs761927109	RCV002246333 RCV002246332 RCV006449390 RCV002246370 RCV002246371 RCV005232307 RCV002246499 RCV002246626 RCV002246697 RCV002249006 RCV002249007 RCV002249008 RCV002249009 RCV002249010 RCV002249012 RCV002249013 RCV002249828 RCV002249830 RCV004816465 RCV003323340 RCV000018984 RCV000018987 RCV000019012 RCV000477818 RCV000022478 RCV002248751 RCV002249671	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the thyroid gland	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ACRAL DYSTROPHIC EPIDERMOLYSIS BULLOSA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta type 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANONYCHIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT GENERALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE GENERALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, INTERMEDIATE FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE GENERALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, SEVERE FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL7A1-related epidermolysis bullosa	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA, ALBOPAPULAR TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane retraction syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSTROPHIA UNGUIUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSE TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTROPHIC EPIDERMOLYSIS BULLOSA NAILS ONLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTROPHIC EPIDERMOLYSIS BULLOSA, NAILS ONLY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermal nevus	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS	—	CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, PRETIBIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolytic ichthyosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLOPEAU-SIEMENS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	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
LOCALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, ACRAL FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOCALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, NAILS ONLY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOCALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA NON-HALLOPEAU SIEMENS TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-GENERALIZED OTHER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELF-IMPROVING DYSTROPHIC EPIDERMOLYSIS BULLOSA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin fragility with non-scarring blistering	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY OF FINGERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY OF THE TOES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOENAIL DYSTROPHY, ISOLATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acral dystrophic epidermolysis bullosa	Acral Dystrophic Epidermolysis Bullosa	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	25566895	Associate	★☆☆☆☆ Found in Text Mining only
amyloidosis IX	Amyloidosis	Pubtator	25566895	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	9284109	Associate	★☆☆☆☆ Found in Text Mining only
Ankyloglossia	Ankyloglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	12558638		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic valve disease	Pubtator	12558638	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	24252097		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant generalized dystrophic epidermolysis bullosa	Dystrophic Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	Dystrophic Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	Dystrophic Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blister	Blister	Pubtator	19726672, 20720561, 25569093, 27434145, 31578311, 35121199, 35163654, 36901775, 8288900, 8592061, 9242516, 9668111	Associate	★☆☆☆☆ Found in Text Mining only
Boerhaave syndrome	Boerhaave Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	1850773	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29499655		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32789468	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17853916, 35993054, 36901775, 37077084	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Centripetalis recessive dystrophic epidermolysis bullosa	Centripetalis Dystrophic Epidermolysis Bullosa	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Cheilitis	Cheilitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cockayne-Touraine Disease	Cockayne-Touraine Disease	BEFREE	10233777, 10836608, 11142768, 11260189, 12823310, 1347297, 15113589, 1680286, 16923137, 18558993, 19250433, 19486058, 21352278, 21574979, 22515571, 23624125, 24121392, 28008652, 7861014, 9347800, 9406826, 9718359, 9892921		★☆☆☆☆ Found in Text Mining only
Cockayne-Touraine Disease	Cockayne-Touraine Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18507500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Component 7 Deficiency	Complement Component Deficiency	BEFREE	30565945		★☆☆☆☆ Found in Text Mining only
Congenital localized absence of skin	Congenital localized absence of skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	12060403		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	10206718, 10408773, 10504458, 12244305, 15086338, 16439972, 16470588, 17229600, 28800953, 8592061, 9042157, 9242516		★☆☆☆☆ Found in Text Mining only
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	Generalized dominant dystrophic epidermolysis bullosa	UNIPROT_DG	10084325, 10232406, 10232407, 10232408, 10233777, 10836608, 11142768, 11874498, 20598510, 2653224, 7861014, 8170945, 9215684, 9668111, 9740253, 9856843		★☆☆☆☆ Found in Text Mining only
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	Generalized dominant dystrophic epidermolysis bullosa	GENOMICS_ENGLAND_DG	11781296, 23616197		★☆☆☆☆ Found in Text Mining only
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	Generalized dominant dystrophic epidermolysis bullosa	BEFREE	1377750, 15113589, 16923137, 19486058, 23624125, 24121392, 28008652, 9718359		★☆☆☆☆ Found in Text Mining only
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	Generalized dominant dystrophic epidermolysis bullosa	CLINVAR_DG	16965329		★☆☆☆☆ Found in Text Mining only
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	Generalized dominant dystrophic epidermolysis bullosa	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	Generalized dominant dystrophic epidermolysis bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22909362		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	19026465, 20507384, 26064063, 3771648		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	BEFREE	11260188, 15113589		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystrophia unguium	Nail dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystrophia unguium	Nail dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystrophic epidermolysis bullosa inversa	Dystrophic Epidermolysis Bullosa	Orphanet			★☆☆☆☆ Found in Text Mining only
Dystrophic epidermolysis bullosa pruriginosa	Dystrophic Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	10232407, 10367729, 1347297, 15113589, 15115517, 19486043, 20574443, 23616197, 27434145, 28493971, 29182795, 29272047, 30280950, 7706758, 7841548, 7883979, 7963683, 8088783, 8170945, 9740253		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	1347297, 20574443, 25569093, 27434145, 29182795, 30280950, 32142798, 33921969, 35163654, 35446444, 36430820, 36578049, 36901775, 38368142, 7706758, 7837248, 7883979, 8051117, 8088783, 8170945	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa	Epidermolysis Bullosa	LHGDN	16971478, 17106611, 17336503		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	BEFREE	10206718, 10233647, 10233777, 10367730, 10379704, 10504458, 10583163, 10836608, 10944088, 10980546, 11142768, 11260189, 11378329, 11903238, 11986329, 12207583, 12228020, 12426566, 12485454, 12823310, 1358979, 14616374, 14727126, 15294178, 15888141, 16185268, 16271705, 16439972, 16484981, 16965329, 17073998, 17229600, 17282977, 17425959, 18429782, 18450758, 18496702, 18558993, 19399267, 19681861, 19893033, 20184583, 20190017, 20523032, 21196708, 21275939, 21352278, 21382783, 21448560, 21681854, 21879237, 22058051, 22266148, 22515571, 22715415, 22909362, 23546949, 24170138, 25113066, 25800346, 27157667, 27434145, 27899325, 28973459, 29182795, 29272047, 29963685, 31167965, 31578311, 7738360, 7861014, 8088784, 8106757, 8275094, 8499916, 8592061, 8644730, 8755915, 8757758, 9008239, 9042157, 9182828, 9215684, 9242516, 9347800, 9375848, 9444387, 9666834, 9668111, 9740253, 9804332, 9856843, 9856844, 9881948, 9892921		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	10233777, 10383749, 10469327, 10504458, 11274208, 12485454, 12558638, 1281864, 12880418, 1358979, 16185268, 16189623, 16484981, 16557343, 16710310, 17282977, 17495952, 17853916, 18385758, 18450758, 19399267, 19435799, 19450397, 20169300, 20190017, 20574443, 20720561, 20818854, 20920254, 21124339, 21448560, 21753764, 21879237, 22002724, 22515571, 22564523, 23226319, 23546300, 24007552, 24147053, 24317394, 24577406, 25222259, 25308504, 26143532, 26380979, 27012560, 27434145, 27899325, 29182795, 29267469, 29326176, 29441510, 29963685, 30684555, 31065125, 31167965, 31578311, 32142798, 32537942, 32926178, 32947957, 33081018, 33333127, 33491668, 33609734, 33670258, 34046686, 34286919, 34435747, 34749770, 34884578, 34948168, 35077577, 35121199, 35163654, 35213017, 35225434, 35243691, 35304249, 35446444, 35464429, 35967298, 36253825, 36385635, 36901775, 37077084, 37148821, 37556444, 38255836, 38272206, 38366625, 38368142, 39628969, 39837388, 7593178, 7706758, 7738360, 7837248, 7861014, 7883979, 8037207, 8088783, 8106757, 8170945, 8288900, 8544200, 8592061, 8618004, 8618018, 8644730, 8755915, 8757758, 8900535, 9008239, 9083095, 9182828, 9215684, 9242516, 9284109, 9284110, 9326325, 9347800, 9562977, 9668111, 9740253, 9804332, 9856843, 9856844	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	CLINVAR_DG	10504458, 12653705, 12813757, 15816848, 15888141, 16439963, 16484981, 16971478, 17916216, 19439919, 19681861, 20357813, 20598510, 21471992, 22266148, 24032424, 24279917, 24947307, 25155989, 26102279, 26763448, 27544590, 27899325, 29130490, 7833933, 8755915, 9242516, 9326325		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	11781296, 23616197		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	LHGDN	12353709, 15774758, 15816848, 16470588, 16500083, 16923137, 17229600, 17425959, 17495952, 17900868, 18374850, 18429782, 18440202, 18450758, 18496702, 18558993		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	33509245	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Dystrophica Inversa Autosomal Recessive	Dystrophic epidermolysis bullosa	Pubtator	1431215	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive	Epidermolysis Bullosa Dystrophica Inversa	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive	Epidermolysis Bullosa Dystrophica Inversa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa dystrophica Pasini type	Dystrophic epidermolysis bullosa	Pubtator	10233777, 1347297, 1358979, 1377750, 15115517, 16189623, 16557343, 1680286, 19726672, 22515571, 7861014, 8170945, 8288900, 8644730, 9347800, 9406826, 9718359	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant	Epidermolysis Bullosa Dystrophica Inversa	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant	Epidermolysis Bullosa Dystrophica Inversa	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	10469327	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa pretibial	Junctional epidermolysis bullosa	Pubtator	16557343, 16971478, 36901775, 7738360, 8644729, 8900535, 9856843	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Pruriginosa	Epidermolysis Bullosa Pruriginosa	BEFREE	10383749, 12353709, 15115517, 16965329, 17434045, 19486043, 21574979, 21879237, 22515571, 25113066, 25222259, 25566895, 29272047, 29504492		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Pruriginosa	Epidermolysis Bullosa Pruriginosa	UNIPROT_DG	10383749, 11142768		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Pruriginosa	Dystrophic epidermolysis bullosa	Pubtator	10383749, 12353709, 15115517, 19197535, 21879237, 22515571, 25222259, 25566895, 36578049, 37676173, 9182828	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Pruriginosa	Epidermolysis Bullosa Pruriginosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Pruriginosa	Epidermolysis Bullosa Pruriginosa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Pruriginosa	Epidermolysis Bullosa Pruriginosa	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	33921969	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Superficialis	Epidermolysis Bullosa	ORPHANET_DG	11874498		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	11781296, 23616197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Epidermolysis Bullosa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Epidermolysis Bullosa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	34286919	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa, pretibial	Epidermolysis Bullosa	BEFREE	10583163, 23624125, 29500833, 7738360, 8541842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa, pretibial	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	11781296, 23616197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa, pretibial	Epidermolysis Bullosa	UNIPROT_DG	8541842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa, pretibial	Epidermolysis Bullosa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa, pretibial	Epidermolysis Bullosa	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa, pretibial	Epidermolysis Bullosa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa, pretibial	Epidermolysis Bullosa	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Stricture	Esophageal Stricture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor vii deficiency	Pubtator	29326176	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	40527859	Associate	★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	8618004, 8618018	Associate	★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	UNIPROT_DG	10084325, 10620140, 11167698, 12787275, 20598510, 8513326, 8592061, 8618018, 8757758, 9215684, 9326325, 9444387, 9740253, 9804332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	10206718, 10408773, 10980546, 11000732, 11378329, 12244305, 12558638, 15086338, 15113589, 16470588, 16500083, 16557343, 16710310, 17139264, 17229600, 17282977, 18030675, 18385758, 18440202, 18578710, 19435799, 19665875, 19893033, 20055845, 20169300, 20376098, 20485266, 20497034, 20574443, 20720561, 20854215, 20920254, 21113014, 21124339, 21182502, 21382783, 22564523, 23226319, 23320616, 23546300, 23546949, 23867500, 23947675, 24357722, 24599399, 24899116, 25308504, 25429056, 25429058, 26073463, 26083672, 26369723, 26763448, 26940370, 26994967, 27012560, 27328306, 27802546, 28027893, 28493971, 28549954, 28800953, 28892093, 28973459, 29473190, 29500833, 29653141, 29745997, 30019435, 30195791, 30247783, 30565945, 30816994, 30924923, 30930113, 31017019, 31148088, 31167965, 31326396, 31437443, 31670199, 7706758, 7837248, 7883979, 8088783, 8544200, 8618004, 8618018, 8644730, 8755915, 8757758, 8900535, 9042157, 9242516, 9284110, 9326325, 9375858, 9666834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	CLINVAR_DG	10944088, 12485454, 15888141, 16971478, 17495952, 18558993, 22266148, 8900535, 9668111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	GENOMICS_ENGLAND_DG	11781296, 23616197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32031203	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis Vulgaris	Ichthyosis Vulgaris	BEFREE	30549102		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	20523032		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38203769	Stimulate	★☆☆☆☆ Found in Text Mining only
Inguinal Hernia, Indirect	Inguinal Hernia	BEFREE	25800346		★☆☆☆☆ Found in Text Mining only
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	BEFREE	10469327		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Larsen syndrome	Larsen Syndrome	BEFREE	7485161		★☆☆☆☆ Found in Text Mining only
Larsen Syndrome	Larsen syndrome	Pubtator	7485161	Associate	★☆☆☆☆ Found in Text Mining only
Larsen syndrome, dominant type	Larsen syndrome	BEFREE	7485161		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	29499655	Inhibit	★☆☆☆☆ Found in Text Mining only
Localized dystrophic epidermolysis bullosa, acral form	Dystrophic Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Localized dystrophic epidermolysis bullosa, nails only	Epidermolysis Bullosa Simplex With Nail Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Localized dystrophic epidermolysis bullosa, pretibial form	Dystrophic Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	29499655		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	19435799		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16470588, 25429056		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22577832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microglossia	Microglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	7883979, 8051117	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
Neoplasms	Neoplasms	BEFREE	22577832		★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	30381462		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type VII	Osteogenesis imperfecta	Pubtator	16557343, 20720561, 24317394, 27434145, 27669223, 35121199, 36901775	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	BEFREE	11862187		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	8088783	Associate	★☆☆☆☆ Found in Text Mining only
Self-improving dystrophic epidermolysis bullosa	Dystrophic Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Diseases	Skin disease	Pubtator	29130490, 29326176	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases Vesiculobullous	Skin disease	Pubtator	18450758	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin Erosion	Skin Erosion	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin Neoplasms	Skin neoplasm	Pubtator	19435799, 29326176	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	7706758	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10232408, 18578710, 21182502, 25429056		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15774758		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18331784		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34999279	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	21182502, 24357722		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34512204	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35120467, 35774273	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of the toes	Syndactyly Of The Toes	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Toenail Dystrophy Isolated	Nail dystrophy	Pubtator	25566895	Associate	★☆☆☆☆ Found in Text Mining only
TOENAIL DYSTROPHY, ISOLATED	Nonsyndromic congenital nail disorder	UNIPROT_DG	11843659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOENAIL DYSTROPHY, ISOLATED	Nonsyndromic congenital nail disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOENAIL DYSTROPHY, ISOLATED	Nonsyndromic congenital nail disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient bullous dermolysis of the newborn	Dystrophic Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	11781296, 23616197		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transient bullous dermolysis of the newborn	Dystrophic Epidermolysis Bullosa	BEFREE	16225626, 9406826, 9856844		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transient bullous dermolysis of the newborn	Epidermolysis bullosa	Pubtator	9406826, 9856844	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transient bullous dermolysis of the newborn	Dystrophic Epidermolysis Bullosa	UNIPROT_DG	9856844		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transient bullous dermolysis of the newborn	Dystrophic Epidermolysis Bullosa	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transient bullous dermolysis of the newborn	Dystrophic Epidermolysis Bullosa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transient bullous dermolysis of the newborn	Dystrophic Epidermolysis Bullosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	7512792	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	7837248	Associate	★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	16439972		★☆☆☆☆ Found in Text Mining only