KRT14 (keratin 14)

Gene

• Entrez ID: 3861
• Gene name: Keratin 14
• Gene symbol: KRT14
• Synonyms (NCBI Gene): CK14, EBS1, EBS1A, EBS1B, EBS1C, EBS1D, EBS3, EBS4, K14, NFJ
• Disease Acronyms (UniProt): EBS1A, EBS1B, EBS1C, EBS1D, EBS3, EBS4
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskele

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28928893	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs56974573	CCT>-	Pathogenic, not-provided	Inframe deletion, coding sequence variant
rs57121345	T>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57278315	GC>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs57358989	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57364972	A>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58330629	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58380626	A>G	Pathogenic	Missense variant, coding sequence variant
rs58645163	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58762773	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59629244	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59966597	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60090257	C>T	Pathogenic	Stop gained, coding sequence variant
rs60171927	T>C	Pathogenic	Missense variant, coding sequence variant
rs60231560	A>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs60399023	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60725382	A>G,T	Pathogenic, not-provided	Synonymous variant, stop gained, coding sequence variant
rs60831116	G>A,T	Pathogenic, benign, not-provided	Synonymous variant, stop gained, coding sequence variant
rs61027685	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61371557	A>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61664582	C>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs200779504	T>G	Not-provided, pathogenic	Splice acceptor variant
rs267607390	C>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs267607391	G>A	Not-provided, pathogenic	Stop gained, coding sequence variant
rs267607400	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064794983	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555571791	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555571799	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567738332	T>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1597798429	GGAGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023065	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023354	hsa-miR-122-5p	Microarray	17612493
MIRT1101140	hsa-miR-4722-5p	CLIP-seq
MIRT1101141	hsa-miR-4768-3p	CLIP-seq
MIRT1101142	hsa-miR-635	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SMAD7	Repression	15023526
SP1	Repression	22911849

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	7525408
GO:0005515	Function	Protein binding	IPI	10852826, 11684708, 15671067, 15731013, 22705788, 27798626, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	11724817
GO:0005737	Component	Cytoplasm	IDA	11724817, 20346438
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IDA	10852826
GO:0007568	Process	Aging	IDA	21916889
GO:0008544	Process	Epidermis development	TAS	7525408
GO:0010043	Process	Response to zinc ion	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0031424	Process	Keratinization	TAS
GO:0031581	Process	Hemidesmosome assembly	TAS
GO:0042633	Process	Hair cycle	IDA	21916889
GO:0045095	Component	Keratin filament	IDA	7679677
GO:0045110	Process	Intermediate filament bundle assembly	IMP	11724817
GO:0045178	Component	Basal part of cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070268	Process	Cornification	TAS
GO:0071944	Component	Cell periphery	IEA
GO:1990254	Function	Keratin filament binding	IPI	20346438

Other IDs

• MIM: 148066
• HGNC: 6416
• e!Ensembl: ENSG00000186847

Protein

• UniProt ID: P02533
• Protein name: Keratin, type I cytoskeletal 14 (Cytokeratin-14) (CK-14) (Keratin-14) (K14)
• Protein function: The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.
• PDB: 3TNU, 6JFV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00038	Filament	114 → 425	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the corneal epithelium (at protein level) (PubMed:26758872). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stra
• Sequence:

  MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSG
  GACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQ
  NLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTAT
  VDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
  SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRK
  DAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLE
  ETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLE
  GEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN

• Sequence length: 472

Pathways

KEGG:

Estrogen signaling pathway
Staphylococcus aureus infection

Reactome:

Type I hemidesmosome assembly
Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	25330770
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	25330770
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	16543248
Dermatopathia pigmentosa reticularis	Dermatopathia pigmentosa reticularis	rs58330629, rs60831116, rs61263401	16960809, 16098032, 7561171, 9804355
Ectodermal dysplasia	Ectodermal Dysplasia	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157
Epidermolysis bullosa	Epidermolysis Bullosa, Epidermolysis Bullosa Herpetiformis Dowling-Meara, Epidermolysis Bullosa Simplex Kobner, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1	rs137852757, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs587776813, rs121912487, rs587776814, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs118203901, rs1558088792, rs121912466, rs2147483647, rs746056280, rs121912832, rs121912833, rs121912834, rs121912836, rs121912837, rs759990189, rs121912839, rs121912844, rs121912845, rs1575495784, rs121912848, rs121912849, rs121912851, rs121912852, rs121912853, rs121912854, rs121912855, rs121912769, rs1564673127, rs121912770, rs753898533, rs121912771, rs1589562891, rs2134563935, rs2134581672, rs121912772, rs121912773, rs121912774, rs121912856, rs201551805, rs769967565, rs786204774, rs797045084, rs886039330, rs886039412, rs1553277702, rs886041187, rs368007918, rs886041186, rs766902987, rs886041555, rs752657203, rs757415879, rs886058642, rs752317971, rs201307156, rs1057517096, rs774133746, rs772421306, rs758886532, rs144023803, rs1057517723, rs760063197, rs916512411, rs772381373, rs768128088, rs374718902, rs762162799, rs1064793916, rs780623622, rs747522386, rs1064793760, rs775196743, rs1131691385, rs201940939, rs200972872, rs139318843, rs1368134215, rs1203706188, rs772038362, rs1553281335, rs1181742615, rs1553853022, rs1553612928, rs1055680335, rs1057517023, rs760094345, rs1560241522, rs199527325, rs751535193, rs767539005, rs775244527, rs769808745, rs1032335328, rs1478395810, rs777672897, rs1575466699, rs776841521, rs1589572214, rs761388039, rs769294243, rs761927109, rs754621187	16960809, 7688405, 11710919, 16786515, 8601736, 12603865, 14987259, 10733662, 16098032, 9804355, 16882168, 10820403, 9989794, 10583131, 7561171, 12655565, 10730767, 12707098, 1717157, 1720261, 7526926, 7682883, 7526933
Epidermolysis bullosa simplex	Epidermolysis Bullosa Simplex, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder), Autosomal recessive generalized epidermolysis bullosa simplex, Autosomal dominant generalized epidermolysis bullosa simplex, severe form, Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form, Weber-Cockayne Syndrome, Localized epidermolysis bullosa simplex	rs1565118389, rs121918354, rs1558193923, rs786205251, rs786205253, rs786205254, rs80338756, rs864309671, rs137853160, rs864309672, rs137853161, rs59629244, rs60399023, rs58330629, rs57121345, rs60725382, rs61371557, rs28928893, rs57358989, rs58380626, rs57364972, rs58762773, rs60171927, rs57599352, rs58058996, rs58072617, rs58163069, rs60586163, rs121912474, rs57499817, rs60715293, rs121912475, rs57348201, rs61126080, rs59115483, rs59190510, rs864309674, rs387906801, rs387906802, rs201045495, rs267607458, rs59243757, rs62642056, rs56922686, rs267607456, rs267607457, rs59840738, rs57142010, rs61297109, rs56974573, rs61536893, rs58393329, rs61664582, rs267607389, rs59442925, rs58357841, rs57278315, rs60338701, rs61263401, rs60470268, rs61027685, rs200779504, rs267607406, rs58560979, rs60090257, rs60231560, rs374419983, rs886037957, rs886037956, rs749309384, rs1057515580, rs1555156076, rs1553275192, rs1565593355, rs1571564381, rs1571557821	20151404, 7506097, 12655565, 10733662, 14987259, 7561171, 12603865, 16786515, 16882168, 7506606, 9284105, 9989794, 9804357, 12707098, 16098032
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	16543248
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	25330770
Myasthenia gravis	Myasthenias	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262
Palmoplantar keratoderma	Keratoderma, Palmoplantar, Diffuse, Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561	9804355

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Epidermolysis Bullosa Simplex	epidermolysis bullosa simplex 1C, localized, epidermolysis bullosa simplex 1B, generalized intermediate, epidermolysis bullosa simplex 1A, generalized severe, epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, epidermolysis bullosa simplex 2F, with mottled pigmentation, epidermolysis bullosa simplex			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	32861330
Acute Disease	Associate	24335474
Adenocarcinoma	Associate	9930073
Adenocarcinoma of Lung	Associate	38240936
Allergic Fungal Sinusitis	Stimulate	21177983
Ameloblastoma	Associate	28390135
Angina Unstable	Associate	35437049
Anus Neoplasms	Associate	20563874
Arthritis Psoriatic	Associate	29784039
Astrocytoma	Associate	17217540
Blister	Associate	17039244, 1721080, 19847192, 25961909, 32927888, 34643242, 35490743, 7561171, 9284105, 9804357
Brain Injuries Diffuse	Associate	28199407
Breast Neoplasms	Stimulate	15990899
Breast Neoplasms	Associate	16941011, 1705754, 17217540, 17263897, 18275599, 18510725, 18536655, 19855377, 20426817, 20482762, 21801876, 25012653, 30236106, 31829259
Calcinosis Cutis	Associate	17217540
Carcinoma Adenoid Cystic	Associate	28152077
Carcinoma Basal Cell	Associate	1383350, 17217540, 18752048, 23702728, 29135512, 31047981, 33538412
Carcinoma Ductal	Associate	11487275, 7535804
Carcinoma in Situ	Associate	17187659, 33650041
Carcinoma Intraductal Noninfiltrating	Associate	1705754, 30236106
Carcinoma Mucoepidermoid	Associate	34247629
Carcinoma Signet Ring Cell	Associate	23573317
Carcinoma Squamous Cell	Associate	16989503, 20614292, 21897749, 23106579, 24168496, 25961909, 32170368, 33658703, 9516889, 9930073
Carcinoma Squamous Cell	Inhibit	26084998
Carcinoma Transitional Cell	Associate	9516889
Cardiomyopathy infantile histiocytoid	Associate	19843013
Cystic Fibrosis	Stimulate	21177983
Death	Stimulate	21801876
Dermatitis Atopic	Associate	30787169
Dermatomyositis	Associate	40140985
Dermatopathia pigmentosa reticularis	Associate	16960809
Diabetes Mellitus	Associate	25446319
Diabetes Mellitus	Inhibit	28403359
Drug Related Side Effects and Adverse Reactions	Associate	14660619
Ectodermal Dysplasia	Associate	16960809
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	11407989, 21326298, 34680898
Eosinophilic Esophagitis	Stimulate	28104354
Epidermal Cyst	Associate	2458356
Epidermolysis Bullosa	Associate	17476356, 36578049
Epidermolysis Bullosa Simplex	Associate	10383750, 10733662, 11407988, 11407989, 11710919, 11973334, 1371287, 14660619, 15647384, 16098032, 16439965, 16960809, 17039244, 1721080, 19847192, 21326298, 21490615, 21593775, 21844930, 22363617, 23894602, 24940650, 25961909, 26432462, 27889290, 28561874, 28888469, 29080682, 29932457, 30382914, 32179493, 34046686, 34509171, 34643242, 34680898, 35334406, 35691363, 39976599, 7525407, 7525408, 7561171, 7682695, 7688405, 8601736, 8799157, 9284105, 9406827, 9804355, 9804357, 9833037, 9989794
Epidermolysis Bullosa Simplex Autosomal Recessive	Associate	11918708, 14578178, 7525408
Epidermolysis bullosa simplex with mottled pigmentation	Associate	9129237
Epidermolysis bullosa with pyloric atresia	Associate	21844930
Esophageal Squamous Cell Carcinoma	Stimulate	17187659
Esophageal Squamous Cell Carcinoma	Associate	27797221, 31048097
Food Hypersensitivity	Associate	30787169
Genetic Diseases Inborn	Associate	7688477, 8799157
Glaucoma Open Angle	Associate	36002796
Glucose Galactose Malabsorption	Associate	25633990
Hepatitis Chronic	Associate	9011570
Histiocytoma Benign Fibrous	Associate	2479695
HIV Infections	Associate	22747944
Hyperglycemia	Associate	21890681
Hypospadias	Associate	39909126
Idiopathic Pulmonary Fibrosis	Associate	26390052, 27423691
Idiopathic subglottic tracheal stenosis	Stimulate	35141889
Infections	Associate	19153227
Inflammatory Breast Neoplasms	Associate	18230143
Keratoconus	Associate	36240204
Laryngotracheal Stenosis Progressive with Short Stature and Arthropathy	Associate	35141889
Leukoplakia	Associate	15995578
Lichen Planus Oral	Associate	15995578, 19776502, 24608215
Lichenoid Eruptions	Associate	15764042
Lung Diseases Interstitial	Associate	28199407
Lung Neoplasms	Associate	23106579
Lupus Erythematosus Systemic	Associate	19089296
Lymphoma Non Hodgkin	Inhibit	26084998
Melanoma	Associate	29377892, 31673075, 36553569
Mesothelioma	Associate	2414994
Mouth Diseases	Associate	19776502
Naegeli syndrome	Associate	16960809, 18049449
Neoplasm Invasiveness	Associate	18536655
Neoplasm Metastasis	Stimulate	17217540
Neoplasm Metastasis	Associate	21801876, 28152077, 35054979
Neoplasms	Associate	11487275, 15990899, 15995578, 16050957, 16989503, 17263897, 18036263, 18275599, 21801876, 22073364, 22308455, 23330018, 23573331, 2466404, 25972552, 26606927, 29164474, 31307407, 31500577, 35361846, 36115836, 36438899, 38553309, 7538149, 7678716, 9516889
Neoplasms	Stimulate	17217540
Neoplasms Glandular and Epithelial	Associate	23264211
Neoplasms Squamous Cell	Associate	23827819
Neoplastic Syndromes Hereditary	Associate	32283594
Non Muscle Invasive Bladder Neoplasms	Associate	31500577, 33538412, 33650041, 34707176
Odontoma	Associate	28390135, 38133085
Ovarian Neoplasms	Associate	31315664, 32512936
Periapical Diseases	Associate	23264211
Peritonitis	Associate	36446780
Prostatic Intraepithelial Neoplasia	Associate	9033282
Psoriasis	Associate	29784039
Pyruvate Carboxylase Deficiency Disease	Associate	38133771
Reflex Abnormal	Associate	9804355
Retinal Dysplasia	Associate	17187659
Sarcoma Kaposi	Associate	16616289
Sensation Disorders	Associate	11487275
Skin Diseases	Associate	29130490
Skin Diseases Vesiculobullous	Associate	15647384
Spastic paraplegia 11 autosomal recessive	Associate	1689541
Squamous Cell Carcinoma of Head and Neck	Associate	16080511, 32468250
Thyroid Cancer Papillary	Associate	36438899
Tinea	Associate	17392834
Trichilemmal Cyst 1	Associate	17091763
Triple Negative Breast Neoplasms	Associate	19855377, 30335837, 32266539, 36446780
Tubular Sweat Gland Adenomas	Associate	16222893
Urethral Neoplasms	Associate	23106579, 26606927, 29249035
Urinary Bladder Neoplasms	Associate	22308455
Uterine Cervical Neoplasms	Associate	1379783
Vascular Diseases	Associate	21890681
Virus Diseases	Associate	22685561