SPINK5 (serine peptidase inhibitor Kazal type 5)

Gene

• Entrez ID: 11005
• Gene name: Serine peptidase inhibitor Kazal type 5
• Gene symbol: SPINK5
• Synonyms (NCBI Gene): LEKTI, LETKI, NETS, NS, VAKTI
• Chromosome: 5
• Chromosome location: 5q32
• Summary: This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908387	C>T	Pathogenic	Stop gained, coding sequence variant
rs142227576	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142558269	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs181639116	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199757347	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs201269335	A>T	Pathogenic	Intron variant
rs367958902	C>T	Pathogenic	Coding sequence variant, stop gained
rs368134354	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant
rs373463881	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs565782662	AAA>-,A,AA,AAAA,AAAAAAA	Pathogenic	Coding sequence variant, frameshift variant, inframe deletion
rs587777749	A>T	Pathogenic	Splice acceptor variant
rs748978134	->A	Pathogenic	Coding sequence variant, frameshift variant
rs752777832	T>C,G	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs752941297	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant
rs753621591	C>T	Pathogenic	Stop gained, coding sequence variant
rs756874525	->GTGC	Pathogenic	Frameshift variant, coding sequence variant
rs759255682	G>A	Pathogenic	Splice acceptor variant
rs761490126	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs766028970	C>T	Pathogenic	Coding sequence variant, stop gained
rs766978225	T>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, stop gained
rs769519367	T>-	Conflicting-interpretations-of-pathogenicity	Stop lost, intron variant, terminator codon variant, frameshift variant
rs775341740	G>A	Pathogenic	Splice donor variant
rs886039547	C>T	Pathogenic	Coding sequence variant, stop gained
rs886041508	A>T	Pathogenic	Coding sequence variant, stop gained
rs1057518067	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057518161	T>C	Pathogenic	Splice donor variant
rs1057520643	T>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1057524476	G>A	Pathogenic	Splice acceptor variant
rs1131691490	T>A	Pathogenic	Splice donor variant, 5 prime UTR variant
rs1131691815	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1362009010	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1419297868	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554104853	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554105045	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554105205	GAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561680487	TTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561684604	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561686960	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561695740	TTCTTGTGAGTGGGCGGCAGCCACTG>CT	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1561701382	G>A	Likely-pathogenic	Splice donor variant
rs1581064755	TGTGGCACAGATGGGAA>GACAACATATGACAACAGATGAC	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1581074967	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581096271	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581109809	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018086	hsa-miR-335-5p	Microarray	18185580
MIRT755526	hsa-miR-5100	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC), in vitro cullelar assays, Immunofluorescence	35705923
MIRT1384454	hsa-miR-3174	CLIP-seq
MIRT1384455	hsa-miR-4276	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002787	Process	Negative regulation of antibacterial peptide production	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA	21873635
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	10419450, 15680911
GO:0005576	Component	Extracellular region	IDA	15680911
GO:0005576	Component	Extracellular region	NAS	10419450
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IDA	12915442
GO:0005783	Component	Endoplasmic reticulum	IDA	15680911
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	15680911
GO:0005829	Component	Cytosol	IDA	15680911
GO:0005938	Component	Cell cortex	IDA	12915442
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007417	Process	Central nervous system development	IBA	21873635
GO:0009913	Process	Epidermal cell differentiation	IDA	12915442
GO:0016525	Process	Negative regulation of angiogenesis	TAS	15680911
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030198	Process	Extracellular matrix organization	TAS	15680911
GO:0030855	Process	Epithelial cell differentiation	TAS	12915442
GO:0035315	Process	Hair cell differentiation	TAS	12915442
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045580	Process	Regulation of T cell differentiation	TAS	12915442
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15680911
GO:0050777	Process	Negative regulation of immune response	TAS	12915442
GO:0051884	Process	Regulation of timing of anagen	TAS	12915442
GO:0070268	Process	Cornification	TAS
GO:0097209	Component	Epidermal lamellar body	IDA	15675955
GO:1900004	Process	Negative regulation of serine-type endopeptidase activity	IEA
GO:1902572	Process	Negative regulation of serine-type peptidase activity	IBA	21873635

Other IDs

• MIM: 605010
• HGNC: 15464
• e!Ensembl: ENSG00000133710

Protein

• UniProt ID: Q9NQ38
• Protein name: Serine protease inhibitor Kazal-type 5 (Lympho-epithelial Kazal-type-related inhibitor) (LEKTI) [Cleaved into: Hemofiltrate peptide HF6478; Hemofiltrate peptide HF7665]
• Protein function: Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating
• PDB: 1H0Z, 1HDL, 1UUC, 1UVF, 1UVG, 5YHN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07648	Kazal_2	106 → 151	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	161 → 211	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	225 → 273	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	297 → 348	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	437 → 487	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	496 → 548	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	631 → 684	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	707 → 758	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	774 → 826	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	916 → 962	Kazal-type serine protease inhibitor domain	Domain
  PF00050	Kazal_1	993 → 1046	Kazal-type serine protease inhibitor domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the thymus and stratum corneum. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate. {ECO:0000269|PubMed:
• Sequence:

  MKIATVSVLLPLALCLIQDAASKNEDQEMCHEFQAFMKNGKLFCPQDKKFFQSLDGIMFI
  NKCATCKMILEKEAKSQKRARHLARAPKATAPTELNCDDFKKGERDGDFICPDYYEAVCG
  TDGKTYDNRCALCAENAKTGSQIGVKSEGECKSSNPEQDVCSAFRPFVRDGRLGCTREND
  PVLGPDGKTHGNKCAMCAELFLKEAENAKREGETRIRRNAEKDFCKEYEKQVRNGRLFCT
  RESDPVRGPDGRMHGNKCALCAEIFKQRFSEENSKTDQNLGKAEEKTKVKREIVKLCSQY
  QNQAKNGILFCTRENDPIRGPDGKMHGNLCSMCQAYFQAENEEKKKAEARARNKRESGKA
  TSYAELCSEYRKLVRNGKLACTRENDPIQGPDGKVHGNTCSMCEVFFQAEEEEKKKKEGK
  SRNKRQSKSTASFEELCSEYRKSRKNGRLFCTRENDPIQGPDGKMHGNTCSMCEAFFQQE
  ERARAKAKREAAKEICSEFRDQVRNGTLICTREHNPVRGPDGKMHGNKCAMCASVFKLEE
  EEKKNDKEEKGKVEAEKVKREAVQELCSEYRHYVRNGRLPCTRENDPIEGLDGKIHGNTC
  SMCEAFFQQEAKEKERAEPRAKVKREAEKETCDEFRRLLQNGKLFCTRENDPVRGPDGKT
  HGNKCAMCKAVFQKENEERKRKEEEDQRNAAGHGSSGGGGGNTQDECAEYREQMKNGRLS
  CTRESDPVRDADGKSYNNQCTMCKAKLEREAERKNEYSRSRSNGTGSESGKDTCDEFRSQ
  MKNGKLICTRESDPVRGPDGKTHGNKCTMCKEKLEREAAEKKKKEDEDRSNTGERSNTGE
  RSNDKEDLCREFRSMQRNGKLICTRENNPVRGPYGKMHINKCAMCQSIFDREANERKKKD
  EEKSSSKPSNNAKDECSEFRNYIRNNELICPRENDPVHGADGKFYTNKCYMCRAVFLTEA
  LERAKLQEKPSHVRASQEEDSPDSFSSLDSEMCKDYRVLPRIGYLCPKDLKPVCGDDGQT
  YNNPCMLCHENLIRQTNTHIRSTGKCEESSTPGTTAASMPPSDE

• Sequence length: 1064

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Netherton syndrome	Ichthyosis linearis circumflexa, Netherton syndrome	rs121908387, rs587777749, rs565782662, rs201269335, rs748978134, rs199757347, rs1057518067, rs1057518161, rs368134354, rs775341740, rs752941297, rs1057520643, rs756874525, rs1131691490, rs373463881, rs766978225, rs761490126, rs367958902, rs1554105045, rs1554104853, rs1561701382, rs1561684604, rs753621591, rs1561680487, rs1561695740, rs1561686960, rs1581064755, rs1419297868, rs1581074967, rs752777832, rs1581096271, rs1362009010, rs759255682, rs1394583450, rs1366194827, rs1212676320, rs749828824, rs771730802, rs1752706120, rs1753397877	10835624, 28289593, 22377713, 22089833, 11841556, 11511292, 25665175, 20657595, 26865388
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881

Unknown
Disease term	Disease name	Evidence	References	Source
Acanthosis nigricans	Acanthosis Nigricans			ClinVar
Asthma	Asthma			ClinVar
Dental caries	Dental caries			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Allergic Fungal Sinusitis	Associate	18588753
alpha 1 Antitrypsin Deficiency Autosomal Recessive	Associate	16628198
alpha 1 Antitrypsin Deficiency Autosomal Recessive	Inhibit	16628198
Asthma	Associate	16519819, 19534795, 24831437
Blood Coagulation Disorders Inherited	Associate	39501396
Brain Diseases	Associate	26732982
Carcinogenesis	Associate	16670719
Carcinogenesis	Stimulate	24763828
Carcinoma Hepatocellular	Associate	26517370, 37990105
Carcinoma Non Small Cell Lung	Associate	35368958
Carcinoma Renal Cell	Associate	16670719
Cataract and congenital ichthyosis	Associate	33807935
Chickenpox	Stimulate	30270115
Coronary Artery Disease	Associate	35069582
Coxsackievirus Infections	Associate	25614593
Dementia	Associate	26329378, 26732982, 28230174
Dermatitis	Associate	31450277
Dermatitis Atopic	Associate	19534795, 27769847, 29926005, 31450277, 37239440
Dermatitis Atopic 1	Associate	19534795
Diabetes Mellitus Type 1	Associate	35069582
Disease Susceptibility	Associate	30477583
Drug Hypersensitivity	Associate	29875205
Eosinophilia	Associate	19534795
Eosinophilic Esophagitis	Inhibit	28712126
Epilepsy	Associate	28230174
Essential Tremor	Associate	36183486
Familial encephalopathy with neuroserpin inclusion bodies	Associate	26329378, 32375228
Fibula Fractures	Associate	31450277
Food Hypersensitivity	Associate	22299310
Growth Disorders	Associate	17989726
Hair Diseases	Associate	29926005
Hyperkeratotic Cutaneous Capillary Venous Malformations Associated With Cerebral Capillary Malformations	Associate	27769847
Hypersensitivity Immediate	Associate	21997416
Ichthyosis	Associate	29926005, 33807935
Ichthyosis Lamellar	Associate	11874482, 17989726, 25526335
Ichthyosis X Linked	Associate	27478344
Ige Responsiveness Atopic	Associate	19534795, 29926005, 37239440
Immunologic Deficiency Syndromes	Associate	19683336
Infections	Associate	17989726
Inflammation	Associate	21697885, 35069582, 35487308
Job Syndrome	Associate	31990481
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Associate	11841556, 25526335, 25710899, 31450277
Leukemia	Associate	27374947
Lupus Erythematosus Systemic	Associate	16519819
Lymphatic Metastasis	Associate	35368958
Mouth Neoplasms	Associate	25029526
Musculoskeletal Abnormalities	Associate	34390440
Nasal Polyps	Inhibit	18588753
Neoplasms	Associate	16670719, 17494866, 21443540, 26517370, 27374947, 35368958
Neoplasms	Stimulate	24763828
Netherton Syndrome	Associate	10712206, 11511292, 11841556, 11874482, 15304086, 16374478, 16628198, 17989726, 19534795, 19683336, 21697885, 21997416, 22089833, 25526335, 25710899, 26825155, 29926005, 30016041, 30270115, 30477583, 31450277, 31990481, 33452875, 33534181, 33556917, 34888090, 37011863, 37239440, 38607195, 40159127
Netherton Syndrome	Inhibit	15675955, 19190773
Neurodegenerative Diseases	Associate	26329378
Pathological Conditions Anatomical	Associate	21697885
Peeling Skin Syndrome	Associate	30032785
Polyps	Inhibit	18588753
Psoriasis	Associate	16519819
Pyoderma	Associate	30270115
Rhinitis Allergic	Associate	19534795
Rosacea	Stimulate	30270115
Skin Diseases	Associate	19534795, 22936986, 36569942
Skin Diseases	Stimulate	31501002
Skin Diseases Genetic	Associate	16374478
Skin Diseases Infectious	Associate	30270115
Spondyloepiphyseal dysplasia Omani type	Associate	34888090
Squamous Cell Carcinoma of Head and Neck	Inhibit	18254958
Squamous Cell Carcinoma of Head and Neck	Associate	21443540, 30226546, 37185487
Status Asthmaticus	Stimulate	28552993
Stomach Neoplasms	Associate	24763828
Trichorrhexis nodosa syndrome	Associate	11841556, 31450277