KRT5 (keratin 5)

Gene

• Entrez ID: 3852
• Gene name: Keratin 5
• Gene symbol: KRT5
• Synonyms: CK5, DDD, DDD1, EBS1, EBS2, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F, K5, KRT5A
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs57348201	T>A,G	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs57499817	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57599352	A>G	Pathogenic	Missense variant, coding sequence variant
rs57890479	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58058996	A>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs58072617	A>G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58163069	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58619430	C>T	Pathogenic	Missense variant, coding sequence variant
rs58751565	G>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs59115483	C>T	Pathogenic	Missense variant, coding sequence variant
rs59190510	C>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs59730172	G>A,T	Not-provided, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs60271599	A>G	Pathogenic	Missense variant, coding sequence variant
rs60586163	G>A,C,T	Not-provided, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs60715293	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61126080	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs61297109	G>A,C,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61348424	->T	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs61348633	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs111448623	T>C,G	Likely-pathogenic	Intron variant
rs121912474	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs121912475	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121912476	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs267607448	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs267607451	C>G	Pathogenic	Missense variant, coding sequence variant
rs267607456	C>A,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs754242209	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs763608512	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs886039403	C>T	Pathogenic	Splice donor variant
rs1064793977	T>C	Pathogenic	Missense variant, initiator codon variant
rs1131691471	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1294665232	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1555156076	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555156100	TGTTCCTGGCATCCTTGAGGGCCAGCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555156480	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1565593355	C>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1592193619	->T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000221	hsa-miR-196a-5p	Review	20026422
MIRT003353	hsa-miR-196b-5p	Review	20026422
MIRT000221	hsa-miR-196a-5p	Luciferase reporter assay, qRT-PCR	19342367
MIRT017843	hsa-miR-335-5p	Microarray	18185580
MIRT732780	hsa-let-7a-5p	Luciferase reporter assay, Western blotting	32965722
MIRT1101320	hsa-let-7a	CLIP-seq
MIRT1101321	hsa-let-7b	CLIP-seq
MIRT1101322	hsa-let-7c	CLIP-seq
MIRT1101323	hsa-let-7d	CLIP-seq
MIRT1101324	hsa-let-7e	CLIP-seq
MIRT1101325	hsa-let-7f	CLIP-seq
MIRT1101326	hsa-let-7g	CLIP-seq
MIRT1101327	hsa-let-7i	CLIP-seq
MIRT1101328	hsa-miR-103a	CLIP-seq
MIRT1101329	hsa-miR-107	CLIP-seq
MIRT1101330	hsa-miR-127-5p	CLIP-seq
MIRT1101331	hsa-miR-1299	CLIP-seq
MIRT1101332	hsa-miR-1301	CLIP-seq
MIRT1101333	hsa-miR-1343	CLIP-seq
MIRT1101334	hsa-miR-196a	CLIP-seq
MIRT1101335	hsa-miR-196b	CLIP-seq
MIRT1101336	hsa-miR-1976	CLIP-seq
MIRT1101337	hsa-miR-2682	CLIP-seq
MIRT1101338	hsa-miR-3122	CLIP-seq
MIRT1101339	hsa-miR-3164	CLIP-seq
MIRT1101340	hsa-miR-3170	CLIP-seq
MIRT1101341	hsa-miR-3202	CLIP-seq
MIRT1101342	hsa-miR-342-5p	CLIP-seq
MIRT1101343	hsa-miR-34a	CLIP-seq
MIRT1101344	hsa-miR-34c-5p	CLIP-seq
MIRT1101345	hsa-miR-3614-5p	CLIP-seq
MIRT1101346	hsa-miR-3675-5p	CLIP-seq
MIRT1101347	hsa-miR-3689d	CLIP-seq
MIRT1101348	hsa-miR-3714	CLIP-seq
MIRT1101349	hsa-miR-3913-5p	CLIP-seq
MIRT1101350	hsa-miR-4282	CLIP-seq
MIRT1101351	hsa-miR-4283	CLIP-seq
MIRT1101352	hsa-miR-4325	CLIP-seq
MIRT1101353	hsa-miR-4458	CLIP-seq
MIRT1101354	hsa-miR-4489	CLIP-seq
MIRT1101355	hsa-miR-4492	CLIP-seq
MIRT1101356	hsa-miR-4498	CLIP-seq
MIRT1101357	hsa-miR-449a	CLIP-seq
MIRT1101358	hsa-miR-449b	CLIP-seq
MIRT1101359	hsa-miR-449c	CLIP-seq
MIRT1101360	hsa-miR-4500	CLIP-seq
MIRT1101361	hsa-miR-4505	CLIP-seq
MIRT1101362	hsa-miR-450b-3p	CLIP-seq
MIRT1101363	hsa-miR-4533	CLIP-seq
MIRT1101364	hsa-miR-4646-5p	CLIP-seq
MIRT1101365	hsa-miR-4651	CLIP-seq
MIRT1101366	hsa-miR-4664-5p	CLIP-seq
MIRT1101367	hsa-miR-4782-5p	CLIP-seq
MIRT1101368	hsa-miR-4786-5p	CLIP-seq
MIRT1101369	hsa-miR-5047	CLIP-seq
MIRT1101370	hsa-miR-516b	CLIP-seq
MIRT1101371	hsa-miR-564	CLIP-seq
MIRT1101372	hsa-miR-608	CLIP-seq
MIRT1101373	hsa-miR-762	CLIP-seq
MIRT1101374	hsa-miR-769-3p	CLIP-seq
MIRT1101375	hsa-miR-890	CLIP-seq
MIRT1101376	hsa-miR-98	CLIP-seq
MIRT1556602	hsa-miR-1909	CLIP-seq
MIRT1556603	hsa-miR-214	CLIP-seq
MIRT1556604	hsa-miR-3619-5p	CLIP-seq
MIRT1556605	hsa-miR-4291	CLIP-seq
MIRT1556606	hsa-miR-4648	CLIP-seq
MIRT1556607	hsa-miR-4654	CLIP-seq
MIRT1556608	hsa-miR-4769-5p	CLIP-seq
MIRT1556609	hsa-miR-761	CLIP-seq
MIRT1556610	hsa-miR-922	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Unknown	16241993;19882246
SP1	Activation	12024040
TFAP2A	Activation	12024040

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	7520042
GO:0005515	Function	Protein binding	IPI	10727209, 10852826, 15671067, 15731013, 22705788, 25416956, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IDA	22170488
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IDA	10852826
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0008544	Process	Epidermis development	TAS	7520042
GO:0016020	Component	Membrane	HDA	19946888
GO:0031424	Process	Keratinization	TAS
GO:0031581	Process	Hemidesmosome assembly	TAS
GO:0045095	Component	Keratin filament	IDA	7679677
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070268	Process	Cornification	TAS
GO:0097110	Function	Scaffold protein binding	IPI	10852826

Other IDs

• MIM: 148040
• HGNC: 6442
• e!Ensembl: ENSG00000186081

Protein

• UniProt ID: P13647
• Protein name: Keratin, type II cytoskeletal 5 (58 kDa cytokeratin) (Cytokeratin-5) (CK-5) (Keratin-5) (K5) (Type-II keratin Kb5)
• Protein function: Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress (By similarity). Regulates the recruitment of Langerhans cells to the epidermis, potentially
• PDB: 3TNU, 6JFV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	16 → 164	Keratin type II head	Family
  PF00038	Filament	167 → 480	Intermediate filament protein	Coiled-coil

• Sequence:

  MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGGFGRVSLAGACGVGGY
  GSRSLYNLGGSKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSGFGFGGGAGGGFGLGGG
  AGFGGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPSIQRVRTEEREQIKTLNNKFA
  SFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRL
  DSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDAAYMNKVELEAKVDALMDEI
  NFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIANRSRTEAESW
  YQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQR
  GELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECR
  LSGEGVGPVNISVVTSSVSSGYGSGSGYGGGLGGGLGGGLGGGLAGGSSGSYYSSSSGGV
  GLGGGLSVGGSGFSASSGRGLGVGFGSGGGSSSSVKFVSTTSSSRKSFKS

• Sequence length: 590

Pathways

Reactome:

Type I hemidesmosome assembly
Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	25855136, 27539887, 31174203
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, rs10520699, rs11852999, 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	Carcinoma, Basal cell carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma, Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259	12376462, 25855136, 27539887, 31174203, 20871598, 19578363
Dowling-degos disease	dowling-degos disease, Dowling-Degos disease 1	rs398123038, rs886041033, rs587777293, rs587777294, rs587777295, rs587777296, rs1569152303	16465624
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	16465624, 9989794, 10730767, 21623745, 8757772, 1372711, 16882168, 16786515, 12655565, 9406827, 9036937, 16882168, 9989794, 7534039, 11407988, 21623745, 9740251, 7686424, 11973334
Epidermolysis bullosa simplex	Epidermolysis Bullosa Simplex, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder), 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	20199538, 16465624, 7688477, 12707098, 12655565, 21623745, 16786515, 15140024, 15347343, 9804357, 16882168, 14723728, 10782015, 7520042, 8595431, 8807337, 7506097
Epidermolysis bullosa simplex with migratory circinate erythema	Epidermolysis Bullosa Simplex with Migratory Circinate Erythema	rs61126080	12925204
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	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
Reticulate acropigmentation of kitamura	Reticulate acropigmentation of Kitamura	rs483352913, rs483352914, rs483352915, rs483352916

Unknown
Disease name	Disease term	dbSNP ID	References
Anaplastic carcinoma	Anaplastic carcinoma		12376462
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		25330770
Epidermolysis bullosa simplex with circinate migratory erythema	Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis bullosa simplex with mottled pigmentation		16882168, 8799157, 10494094, 21623745
Hypopigmentation disorder	Hypopigmentation disorder
Leukoplakia	Leukoplakia, Oral
Nail diseases	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Nail dysplasia	Nail dysplasia
Nail dystrophy	Dystrophia unguium
Onychogryposis	Onychogryposis
Palmoplantar keratosis	Palmoplantar Keratosis
Ptosis	Blepharoptosis, Ptosis	rs139920573
Punctate palmoplantar hyperkeratosis	Punctate palmoplantar hyperkeratosis
Reticulate hyperpigmentation	Progressive reticulate hyperpigmentation
Salivary gland neoplasm	Salivary Gland Neoplasms		16762588
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland		16762588
Skin carcinoma	Squamous cell carcinoma of skin
Subcutaneous hemorrhage	Subcutaneous hemorrhage