LAMB3 (laminin subunit beta 3)

Gene

• Entrez ID: 3914
• Gene name: Laminin subunit beta 3
• Gene symbol: LAMB3
• Synonyms (NCBI Gene): AI1A, BM600-125KDA, JEB1A, JEB1B, LAM5, LAMNB1
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bul

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356680	G>A	Pathogenic	Coding sequence variant, stop gained
rs80356681	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs80356682	G>A	Pathogenic	Coding sequence variant, stop gained
rs121912482	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912483	G>A,C	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs121912484	C>T	Pathogenic	Stop gained, coding sequence variant
rs121912485	G>A	Pathogenic	Stop gained, coding sequence variant
rs121912486	C>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121912487	T>G	Pathogenic	Missense variant, coding sequence variant
rs200672750	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs201551805	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs370148688	T>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs371267954	T>C	Likely-pathogenic	Splice acceptor variant
rs587776812	C>T	Likely-benign, pathogenic	Intron variant
rs587776813	A>G	Pathogenic	Intron variant
rs587776814	C>T	Pathogenic	Splice acceptor variant
rs747916314	G>A	Pathogenic	Stop gained, coding sequence variant
rs753711190	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs759518184	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs763559509	G>-	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs769151482	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs769967565	TG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs770302956	C>T	Pathogenic, likely-pathogenic	Intron variant
rs772421306	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs774174881	A>C	Pathogenic	Coding sequence variant, stop gained
rs774472247	C>T	Likely-pathogenic	Splice acceptor variant
rs776537364	->A	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, intron variant
rs777292177	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs777672897	->G	Pathogenic	Coding sequence variant, frameshift variant
rs778372285	C>A	Likely-pathogenic	Splice acceptor variant
rs786201004	->C	Pathogenic	Coding sequence variant, frameshift variant
rs786205094	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205095	ACACG>-	Pathogenic	Coding sequence variant, frameshift variant
rs869320671	G>T	Pathogenic	Coding sequence variant, stop gained
rs886045870	TG>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516219	->C	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1057516241	CT>-	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516249	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516316	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516399	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1057516400	AC>-	Likely-pathogenic	Frameshift variant, stop lost, terminator codon variant
rs1057516539	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057516675	A>C	Likely-pathogenic	Splice donor variant
rs1057516693	C>A	Likely-pathogenic	Splice acceptor variant
rs1057516756	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516759	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516809	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516884	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516947	C>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057517096	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1057517258	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057517290	->AC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517312	A>G	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1057517395	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064793896	G>A	Pathogenic	Stop gained, coding sequence variant
rs1085307994	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1186161867	C>A,T	Likely-pathogenic	Splice donor variant
rs1418276828	C>T	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1464038626	A>G,T	Likely-pathogenic	Splice donor variant
rs1553275034	CCAGTCCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553275070	C>T	Pathogenic	Splice acceptor variant
rs1553275195	C>A	Pathogenic	Coding sequence variant, stop gained
rs1553275219	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553276110	C>T	Likely-pathogenic	Splice donor variant
rs1553277072	C>A	Likely-pathogenic	Splice donor variant
rs1553277267	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553277432	CCTACTCACGGTGGCAGCCC>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1553277686	CA>-	Likely-pathogenic	Coding sequence variant, inframe indel, stop gained
rs1553277702	->TTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCC	Pathogenic	Frameshift variant, coding sequence variant
rs1553279044	C>G,T	Likely-pathogenic	Splice donor variant
rs1553279073	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553281291	A>C,G	Likely-pathogenic	Splice donor variant
rs1553281335	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1558148080	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558163550	C>T	Pathogenic	Stop gained, coding sequence variant
rs1571796718	C>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1571803654	TTAGGAAGTCCCGGACCTG>-	Likely-pathogenic	Splice donor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001062	hsa-miR-218-5p	qRT-PCR, Western blot, Northern blot	17998940
MIRT001062	hsa-miR-218-5p	Luciferase reporter assay	17998940
MIRT023092	hsa-miR-124-3p	Microarray	18668037
MIRT031939	hsa-miR-16-5p	Proteomics	18668040
MIRT001062	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	23483249
MIRT001062	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	23159910
MIRT736577	hsa-miR-24-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	32039003
MIRT1103274	hsa-miR-2053	CLIP-seq
MIRT1103275	hsa-miR-499-3p	CLIP-seq
MIRT1103276	hsa-miR-499a-3p	CLIP-seq
MIRT1103277	hsa-miR-579	CLIP-seq
MIRT2028231	hsa-miR-24	CLIP-seq
MIRT2452856	hsa-miR-4484	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	NAS	7550320
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	19275936
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005610	Component	Laminin-5 complex	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008544	Process	Epidermis development	TAS	7774918
GO:0030154	Process	Cell differentiation	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0050873	Process	Brown fat cell differentiation	IEA

Other IDs

• MIM: 150310
• HGNC: 6490
• e!Ensembl: ENSG00000196878

Protein

• UniProt ID: Q13751
• Protein name: Laminin subunit beta-3 (Epiligrin subunit bata) (Kalinin B1 chain) (Kalinin subunit beta) (Laminin B1k chain) (Laminin-5 subunit beta) (Nicein subunit beta)
• Protein function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00055	Laminin_N	26 → 248	Laminin N-terminal (Domain VI)	Family
  PF00053	Laminin_EGF	250 → 313	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	316 → 376	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	379 → 428	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	431 → 478	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	481 → 531	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	534 → 588	Laminin EGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in the basement membranes (major component).
• Sequence:

  MRPFFLLCFALPGLLHAQQACSRGACYPPVGDLLVGRTRFLRASSTCGLTKPETYCTQYG
  EWQMKCCKCDSRQPHNYYSHRVENVASSSGPMRWWQSQNDVNPVSLQLDLDRRFQLQEVM
  MEFQGPMPAGMLIERSSDFGKTWRVYQYLAADCTSTFPRVRQGRPQSWQDVRCQSLPQRP
  NARLNGGKVQLNLMDLVSGIPATQSQKIQEVGEITNLRVNFTRLAPVPQRGYHPPSAYYA
  VSQLRLQGSCFCHGHADRCAPKPGASAGPSTAVQVHDVCVCQHNTAGPNCERCAPFYNNR
  PWRPAEGQDAHECQRCDCNGHSETCHFDPAVFAASQGAYGGVCDNCRDHTEGKNCERCQL
  HYFRNRRPGASIQETCISCECDPDGAVPGAPCDPVTGQCVCKEHVQGERCDLCKPGFTGL
  TYANPQGCHRCDCNILGSRRDMPCDEESGRCLCLPNVVGPKCDQCAPYHWKLASGQGCEP
  CACDPHNSLSPQCNQFTGQCPCREGFGGLMCSAAAIRQCPDRTYGDVATGCRACDCDFRG
  TEGPGCDKASGRCLCRPGLTGPRCDQCQRGYCNRYPVCVACHPCFQTYDADLREQALRFG
  RLRNATASLWSGPGLEDRGLASRILDAKSKIEQIRAVLSSPAVTEQEVAQVASAILSLRR
  TLQGLQLDLPLEEETLSLPRDLESLDRSFNGLLTMYQRKREQFEKISSADPSGAFRMLST
  AYEQSAQAAQQVSDSSRLLDQLRDSRREAERLVRQAGGGGGTGSPKLVALRLEMSSLPDL
  TPTFNKLCGNSRQMACTPISCPGELCPQDNGTACGSRCRGVLPRAGGAFLMAGQVAEQLR
  GFNAQLQRTRQMIRAAEESASQIQSSAQRLETQVSASRSQMEEDVRRTRLLIQQVRDFLT
  DPDTDAATIQEVSEAVLALWLPTDSATVLQKMNEIQAIAARLPNVDLVLSQTKQDIARAR
  RLQAEAEEARSRAHAVEGQVEDVVGNLRQGTVALQEAQDTMQGTSRSLRLIQDRVAEVQQ
  VLRPAEKLVTSMTKQLGDFWTRMEELRHQARQQGAEAVQAQQLAEGASEQALSAQEGFER
  IKQKYAELKDRLGQSSMLGEQGARIQSVKTEAEELFGETMEMMDRMKDMELELLRGSQAI
  MLRSADLTGLEKRVEQIRDHINGRVLYYATCK

• Sequence length: 1172

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer

Reactome:

Degradation of the extracellular matrix
Assembly of collagen fibrils and other multimeric structures
Anchoring fibril formation
Laminin interactions
Type I hemidesmosome assembly
MET activates PTK2 signaling

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	rs145464247, rs2102424525	RCV001814457 RCV001814467	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta	Pathogenic	rs2464737467	RCV003883507	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta type 1A	Likely pathogenic; Pathogenic	rs112988476, rs113077137, rs1666431089, rs1666824858, rs767847211, rs1666753666, rs1553275034, rs869320671, rs786201004, rs146794392, rs201551805, rs769967565, rs776537364, rs756743929, rs369131781, rs1558150761, rs2464758865, rs2464746180, rs770302956, rs886045870, rs2464831946, rs2464752818, rs80356682, rs80356680, rs121912482, rs769151482, rs2464785458, rs2464753059, rs80356681, rs1057516675, rs774174881, rs772421306, rs1553275070, rs1553275195, rs1064793896, rs747916314, rs1553277072, rs753711190, rs1186161867, rs1558163550, rs777672897, rs778026407	RCV001332296 RCV005014510 RCV005005924 RCV005006111 RCV005016464 RCV002247709 RCV000157635 RCV000157636 RCV000157637 RCV005016515 RCV005016511 RCV005016514 RCV002492690 RCV005011218 RCV005019560 RCV005019571 RCV003154640 RCV003224081 RCV002494799 RCV005016687 RCV005022008 RCV005014764 RCV000762876 RCV000762879 RCV005016269 RCV005016270 RCV005014839 RCV005014930 RCV005394172 RCV005010291 RCV000762878 RCV002481270 RCV000519434 RCV000520930 RCV005018797 RCV002490897 RCV005010667 RCV005019111 RCV000762877 RCV005021148 RCV002493427 RCV002481890	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa	Pathogenic	rs2102403618	RCV004798922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex 1A, generalized severe	Likely pathogenic; Pathogenic	rs1057516822	RCV006253942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Junctional epidermolysis bullosa	Pathogenic; Likely pathogenic	rs1666320034, rs1666434871, rs1464871076, rs749842554, rs768303931, rs532875477, rs759084687, rs370148688, rs770302956, rs766177957, rs80356682, rs121912482, rs786205095, rs769151482, rs2464797223, rs80356681, rs1057516759, rs1057517096, rs1057516539, rs1064793896, rs747916314, rs759518184, rs1418276828, rs1571803654, rs778026407, rs749069550, rs369555024	RCV001352732 RCV001352731 RCV001352729 RCV002271647 RCV003230699 RCV003317558 RCV003403841 RCV005406877 RCV000778964 RCV005429437 RCV000778963 RCV003155026 RCV002228028 RCV002509160 RCV005637001 RCV001201255 RCV001449796 RCV000778965 RCV002469140 RCV001269275 RCV002468942 RCV001352730 RCV003226366 RCV000826114 RCV001779106 RCV001193782 RCV002271627	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa gravis of Herlitz	Likely pathogenic; Pathogenic	rs749842554, rs113077137, rs1571810782, rs1666431089, rs778372285, rs768303931, rs2102438650, rs2102467762, rs1666824858, rs767847211, rs2464954336, rs2464855992, rs2464785754, rs2464791514, rs2464879272, rs2464898853, rs2464801036, rs2464752372, rs2464879558, rs2464757224, rs2464814471, rs2464797493, rs2464831167, rs2464832505, rs2464867276, rs2464954277, rs2464880318, rs2464880702, rs2464837989, rs2464953951, rs2464763815, rs2464898978, rs2464786761, rs2464764779, rs2464849694, rs552611500, rs748475714, rs200607251, rs2464880797, rs2464790714, rs2464764083, rs2464880004, rs146794392, rs201551805, rs769967565, rs370148688, rs776537364, rs371267954, rs756743929, rs369131781, rs1558150761, rs770302956, rs886041893, rs1666247177, rs886045870, rs763559509, rs2464831946, rs2464752818, rs80356682, rs80356680, rs121912482, rs121912483, rs121912484, rs121912485, rs769151482, rs2464785458, rs2464753059, rs80356681, rs1057516400, rs1057516759, rs1057516756, rs777292177, rs1057516838, rs1057516486, rs1057517207, rs1057516822, rs1057516219, rs1057517096, rs1057517290, rs1057516316, rs1057517395, rs1057516249, rs1057516809, rs1057516539, rs1057516693, rs1057516947, rs1057516399, rs1057516241, rs1057517258, rs1057516675, rs1057517312, rs1057516884, rs774174881, rs772421306, rs1553275070, rs1064793896, rs747916314, rs759518184, rs1553277267, rs1178041263, rs1553279044, rs1553279073, rs774472247, rs1553276216, rs1553276430, rs1418276828, rs1375506940, rs1186161867, rs1553277072, rs1553275219, rs753711190, rs1553276110, rs1553276268, rs1464038626, rs1553281291, rs1553276488, rs1553277432, rs1553277686, rs1558163550, rs777672897, rs1571796718, rs778026407, rs757145297, rs1666408900, rs1350303547, rs1666014535, rs1666017894, rs1666039804, rs1666422338, rs1666432128, rs1666482613, rs1447665931, rs1666505168, rs1666507638, rs766227083, rs769748910, rs1666615300, rs779681550, rs1666646272, rs1666731883, rs1666736220, rs1666819553, rs565416040, rs2076427827	RCV001374699 RCV005014510 RCV002283544 RCV005005924 RCV001810505 RCV001805757 RCV001823655 RCV001823693 RCV005006111 RCV005016464 RCV002306533 RCV002306542 RCV002306611 RCV002306709 RCV002306736 RCV002309697 RCV002309768 RCV002309939 RCV002309983 RCV002308031 RCV002308087 RCV002308236 RCV002308369 RCV002309121 RCV002309188 RCV002309202 RCV002309243 RCV002309439 RCV002309527 RCV002306890 RCV002306930 RCV002307075 RCV002307094 RCV002307116 RCV002310095 RCV002310193 RCV002310240 RCV002310261 RCV002310398 RCV002310474 RCV002310479 RCV002308404 RCV000169424 RCV000169086 RCV000169387 RCV001810431 RCV000169311 RCV000169049 RCV005011218 RCV005019560 RCV005019571 RCV002494799 RCV000665799 RCV003337732 RCV000675161 RCV000409820 RCV005022008 RCV005014764 RCV000015638 RCV000015641 RCV005016269 RCV000015645 RCV000015646 RCV000015647 RCV000015649 RCV005014839 RCV005014930 RCV000020223 RCV000408972 RCV000411623 RCV000410367 RCV000410326 RCV000410456 RCV000410707 RCV000410937 RCV000411821 RCV000410580 RCV000411684 RCV000410525 RCV000412071 RCV000410143 RCV000412191 RCV000409210 RCV000411875 RCV000410699 RCV000411405 RCV000410915 RCV000411400 RCV000409301 RCV000412253 RCV000411435 RCV000409851 RCV000412261 RCV000762878 RCV000984194 RCV005018740 RCV005018797 RCV002490897 RCV000984193 RCV000626233 RCV000672296 RCV000668741 RCV000664862 RCV000666475 RCV000668707 RCV000665739 RCV000674594 RCV000664480 RCV000670229 RCV000672331 RCV000668635 RCV000666564 RCV000668519 RCV000666447 RCV000666381 RCV000666343 RCV000671158 RCV000674996 RCV000674106 RCV000674753 RCV000669255 RCV005021148 RCV000781492 RCV001004139 RCV002481890 RCV001174997 RCV004794497 RCV001290301 RCV001263938 RCV001263939 RCV001263940 RCV001263941 RCV001263942 RCV001263943 RCV001263944 RCV001263945 RCV001264105 RCV001264106 RCV001264107 RCV001264108 RCV001264109 RCV001264110 RCV001264111 RCV001264112 RCV001264231 RCV001264232 RCV001264233	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa, non-Herlitz type	Likely pathogenic; Pathogenic	rs113077137, rs1666431089, rs778372285, rs2102403618, rs1666824858, rs767847211, rs1666753666, rs2464954336, rs2464855992, rs2464785754, rs2464791514, rs2464879272, rs2464898853, rs2464801036, rs2464752372, rs2464879558, rs2464757224, rs2464814471, rs2464797493, rs2464831167, rs2464832505, rs2464867276, rs2464954277, rs2464880318, rs2464880702, rs2464837989, rs2464953951, rs2464763815, rs2464898978, rs2464786761, rs2464764779, rs2464849694, rs552611500, rs748475714, rs200607251, rs2464880797, rs2464790714, rs2464764083, rs2464880004, rs747341006, rs146794392, rs201551805, rs769967565, rs370148688, rs776537364, rs756743929, rs369131781, rs1558150761, rs371462192, rs770302956, rs886045870, rs2464831946, rs2464752818, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs769151482, rs587776813, rs121912487, rs587776814, rs2464785458, rs2464753059, rs2464849823, rs2464820641, rs80356681, rs1057517096, rs1057516675, rs774174881, rs772421306, rs1553275070, rs1064793896, rs747916314, rs1553281335, rs1553277072, rs753711190, rs1186161867, rs1558163550, rs777672897, rs778026407	RCV005014510 RCV005005924 RCV001810505 RCV001733642 RCV005006111 RCV005016464 RCV002244290 RCV002306533 RCV002306542 RCV002306611 RCV002306709 RCV002306736 RCV002309697 RCV002309768 RCV002309939 RCV002309983 RCV002308031 RCV002308087 RCV002308236 RCV002308369 RCV002309121 RCV002309188 RCV002309202 RCV002309243 RCV002309439 RCV002309527 RCV002306890 RCV002306930 RCV002307075 RCV002307094 RCV002307116 RCV002310095 RCV002310193 RCV002310240 RCV002310261 RCV002310398 RCV002310474 RCV002310479 RCV002308404 RCV002468740 RCV005016515 RCV005016511 RCV000586480 RCV001810431 RCV002492690 RCV005011218 RCV005019560 RCV005019571 RCV003149118 RCV002494799 RCV005016687 RCV005022008 RCV005014764 RCV000015639 RCV000762879 RCV000015643 RCV000015644 RCV000015648 RCV005016270 RCV000015652 RCV000015653 RCV000015654 RCV005014839 RCV005014930 RCV003990621 RCV003990755 RCV005394172 RCV003114525 RCV005010291 RCV000762878 RCV000780371 RCV005018740 RCV005018797 RCV002490897 RCV000585707 RCV005010667 RCV005019111 RCV000762877 RCV005021148 RCV002245666 RCV002481890	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LAMB3-related disorder	Likely pathogenic; Pathogenic	rs1571810782, rs80356682, rs80356680, rs777672897	RCV003928869 RCV003952359 RCV003904843 RCV003928269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IA	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE	—	HPO	★★☆☆☆ 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
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA NON-HERLITZ TYPE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUNCTIONAL EPIDERMOLYSIS BULLOSA HERLITZ TYPE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUNCTIONAL EPIDERMOLYSIS BULLOSA MITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	CLINVAR_DG	11023379, 16473856, 22931927, 23278291		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	UNIPROT_DG	17476356, 9767254		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	27220909, 9856855		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	23632796, 23958762, 25769099, 30120606, 30905256	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	23958762, 25769099, 27220909, 30838594, 30905256		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	BEFREE	23632796, 25769099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	ORPHANET_DG	23632796		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	23632796, 25769099, 30046887, 30120606	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IA	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	27220909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IA	Amelogenesis imperfecta	BEFREE	30046887		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IA	Amelogenesis imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	30905256	Associate	★☆☆☆☆ Found in Text Mining only
Ankyloglossia	Ankyloglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	15373767, 30046887	Associate	★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30850586		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34456632	Associate	★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	35178765	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly type C	Brachydactyly	BEFREE	30887508		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29940887		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39300389, 39340434	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	27078887	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10964684, 23441154, 27698189		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32005189, 34007003	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16358814	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20163849		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	20163849, 23320911		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38114514	Stimulate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	30887508		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15363037		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37086961	Associate	★☆☆☆☆ Found in Text Mining only
Congenital localized absence of skin	Congenital localized absence of skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital thrombotic disease due to Protein C deficiency	Congenital thrombotic thrombocytopenic purpura	Pubtator	35428170	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	34064633	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30598261		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	30598261	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental enamel hypoplasia	Pubtator	23958762	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	27220909		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	9457915, 9759651		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27431458		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	21856934	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	39408909	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	10367729, 17476356, 20574443, 27062385, 7774918		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	11023379, 17476356, 20574443, 30544381, 33921969, 36578049	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	10469327, 10577906, 10951252, 11023379, 11296269, 11564184, 15311214, 15373767, 17476356, 23632796, 23958762, 25363238, 25769099, 27120332, 27375110, 27827380, 29946029, 30544381, 30905256, 32222156, 34064633, 35178765, 35234826, 38157931, 39615637, 7706759, 7706760, 8618020, 8618058, 9242513, 9326326, 9457915, 9579554	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Progressiva	Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Pruriginosa	Dystrophic epidermolysis bullosa	Pubtator	36578049	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	33921969	Associate	★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)	Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	39256753	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Stricture	Esophageal Stricture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	29138824		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	9242513	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	29138824	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	35893033	Associate	★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	CLINVAR_DG	11023379, 11298117, 11451332, 11689492, 11810295, 12813757, 15373767, 15538630, 15725250, 16473856, 16971478, 17476356, 21801158, 22931927, 23278291, 24947307, 25525159, 25708563, 25950805, 27480391, 28392661, 28561256, 7550237, 7698759, 8824879, 8983017, 9160387, 9242513, 9326326, 9457915, 9690563, 9856852		★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	UNIPROT_DG	7550237		★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	BEFREE	9579554, 9583749		★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	GENOMICS_ENGLAND_DG	9856855		★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	22898004	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic amelogenesis imperfecta	Hypoplastic Amelogenesis Imperfecta	Orphanet			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30122422		★☆☆☆☆ 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	10951252, 11023379, 12447669, 15311214, 15373767, 15663509, 17115047, 17476356, 21357940, 23278291, 23632796, 25769099, 27120332, 27827380, 28087116, 28561256, 30122422, 30544381, 30905256, 7633458, 7698759, 7706759, 7706760, 7774918, 8618020, 8618058, 8824879, 9085255, 9205497, 9209887, 9242513, 9326326, 9457915, 9501007, 9579554, 9690563, 9759651, 9767254		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	LHGDN	15373767, 16147969, 18387282		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	9856855		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional split	Junctional split	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngostenosis	Laryngostenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23615186		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	35178765	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27698189, 36380607	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23778407	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	34166375	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29940887		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10964684, 23441154, 27698189		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30850586		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14695140, 23778407, 30850586		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21345334		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29317832, 29426928		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25337271, 30850586		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20163849		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28553955		★☆☆☆☆ Found in Text Mining only
Microphthalmia, syndromic 2	Syndromic microphthalmia	BEFREE	30046887		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_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
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	18570662	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36947579	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14973053, 25867809		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10964684		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	27431458		★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	35052464	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34512203	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30850586		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32005189, 32235821, 34007003, 36311789	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35428170	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25867809, 29426928		★☆☆☆☆ Found in Text Mining only
Paronychia Inflammation	Paronychia Inflammation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	36430582	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23778407, 30850586		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23778407	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38286613	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe generalized junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Erosion	Skin Erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10964684		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15363037		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18331784, 25337271		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30414703		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21345334		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	8780383	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29426928	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	39205691	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29317832, 29426928		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29317832, 29426928		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26800519, 37694778	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36305754	Associate	★☆☆☆☆ Found in Text Mining only