ALOXE3 (arachidonate epidermal lipoxygenase 3)

Gene

• Entrez ID: 59344
• Gene name: Arachidonate epidermal lipoxygenase 3
• Gene symbol: ALOXE3
• Synonyms (NCBI Gene): ARCI3, E-LOX, LI5, eLOX-3, eLOX3
• Disease Acronyms (UniProt): ARCI3
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trieno

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434232	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434233	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs121434234	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs139375856	T>C	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs141340759	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs147149459	G>A	Pathogenic	Missense variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs370031870	G>A,T	Pathogenic	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs745480657	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs765682032	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs781631629	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant, downstream transcript variant
rs786205120	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1296095311	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1311967606	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs1355284797	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1567999245	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1568005543	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1598209965	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT778925	hsa-miR-1255a	CLIP-seq
MIRT778926	hsa-miR-1255b	CLIP-seq
MIRT778927	hsa-miR-2110	CLIP-seq
MIRT778928	hsa-miR-3126-5p	CLIP-seq
MIRT778929	hsa-miR-3150a-3p	CLIP-seq
MIRT778930	hsa-miR-3175	CLIP-seq
MIRT778931	hsa-miR-3605-5p	CLIP-seq
MIRT778932	hsa-miR-4419a	CLIP-seq
MIRT778933	hsa-miR-4510	CLIP-seq
MIRT778934	hsa-miR-4535	CLIP-seq
MIRT778935	hsa-miR-4659a-3p	CLIP-seq
MIRT778936	hsa-miR-4659b-3p	CLIP-seq
MIRT778937	hsa-miR-4776-5p	CLIP-seq
MIRT778938	hsa-miR-492	CLIP-seq
MIRT778939	hsa-miR-939	CLIP-seq
MIRT1929926	hsa-miR-647	CLIP-seq
MIRT778925	hsa-miR-1255a	CLIP-seq
MIRT778926	hsa-miR-1255b	CLIP-seq
MIRT778927	hsa-miR-2110	CLIP-seq
MIRT778928	hsa-miR-3126-5p	CLIP-seq
MIRT778929	hsa-miR-3150a-3p	CLIP-seq
MIRT778930	hsa-miR-3175	CLIP-seq
MIRT778931	hsa-miR-3605-5p	CLIP-seq
MIRT778932	hsa-miR-4419a	CLIP-seq
MIRT778933	hsa-miR-4510	CLIP-seq
MIRT778939	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	22622417, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0006665	Process	Sphingolipid metabolic process	IDA	21558561
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	20921226, 20923767
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	12881489
GO:0019233	Process	Sensory perception of pain	ISS
GO:0019369	Process	Arachidonic acid metabolic process	IBA	21873635
GO:0019369	Process	Arachidonic acid metabolic process	IDA	12881489, 17045234
GO:0019372	Process	Lipoxygenase pathway	IBA	21873635
GO:0019372	Process	Lipoxygenase pathway	IDA	20921226
GO:0019372	Process	Lipoxygenase pathway	TAS
GO:0035357	Process	Peroxisome proliferator activated receptor signaling pathway	ISS
GO:0043651	Process	Linoleic acid metabolic process	IBA	21873635
GO:0043651	Process	Linoleic acid metabolic process	IDA	12881489, 17045234
GO:0045444	Process	Fat cell differentiation	ISS
GO:0046513	Process	Ceramide biosynthetic process	ISS
GO:0050486	Function	Intramolecular transferase activity, transferring hydroxy groups	IDA	20923767, 21558561
GO:0051120	Function	Hepoxilin A3 synthase activity	IBA	21873635
GO:0051120	Function	Hepoxilin A3 synthase activity	IDA	12881489, 17045234
GO:0051120	Function	Hepoxilin A3 synthase activity	TAS
GO:0051122	Process	Hepoxilin biosynthetic process	IBA	21873635
GO:0051122	Process	Hepoxilin biosynthetic process	IDA	12881489, 17045234
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0106255	Function	Hydroperoxy icosatetraenoate isomerase activity	IEA
GO:0106256	Function	Hydroperoxy icosatetraenoate dehydratase activity	IEA

Other IDs

• MIM: 607206
• HGNC: 13743
• e!Ensembl: ENSG00000179148

Protein

• UniProt ID: Q9BYJ1
• Protein name: Hydroperoxide isomerase ALOXE3 (Epidermis-type lipoxygenase 3) (Epidermal LOX-3) (e-LOX-3) (eLOX-3) (Hydroperoxy dehydratase ALOXE3) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152) (Hydroperoxy icosatetraenoate isomerase) (EC 5.4.4.7)
• Protein function: Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity (PubMed:12881489, PubMed:17045234, PubMed:20921226, PubMed:20923767). The hydroperoxide
• PDB: 6VB2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01477	PLAT	4 → 113	PLAT/LH2 domain	Domain
  PF00305	Lipoxygenase	211 → 697	Lipoxygenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in skin.
• Sequence:

  MAVYRLCVTTGPYLRAGTLDNISVTLVGTCGESPKQRLDRMGRDFAPGSVQKYKVRCTAE
  LGELLLLRVHKERYAFFRKDSWYCSRICVTEPDGSVSHFPCYQWIEGYCTVELRPGTART
  ICQDSLPLLLDHRTRELRARQECYRWKIYAPGFPCMVDVNSFQEMESDKKFALTKTTTCV
  DQGDSSGNRYLPGFPMKIDIPSLMYMEPNVRYSATKTISLLFNAIPASLGMKLRGLLDRK
  GSWKKLDDMQNIFWCHKTFTTKYVTEHWCEDHFFGYQYLNGVNPVMLHCISSLPSKLPVT
  NDMVAPLLGQDTCLQTELERGNIFLADYWILAEAPTHCLNGRQQYVAAPLCLLWLSPQGA
  LVPLAIQLSQTPGPDSPIFLPTDSEWDWLLAKTWVRNSEFLVHENNTHFLCTHLLCEAFA
  MATLRQLPLCHPIYKLLLPHTRYTLQVNTIARATLLNPEGLVDQVTSIGRQGLIYLMSTG
  LAHFTYTNFCLPDSLRARGVLAIPNYHYRDDGLKIWAAIESFVSEIVGYYYPSDASVQQD
  SELQAWTGEIFAQAFLGRESSGFPSRLCTPGEMVKFLTAIIFNCSAQHAAVNSGQHDFGA
  WMPNAPSSMRQPPPQTKGTTTLKTYLDTLPEVNISCNNLLLFWLVSQEPKDQRPLGTYPD
  EHFTEEAPRRSIAAFQSRLAQISRDIQERNQGLALPYTYLDPPLIENSVSI

• Sequence length: 711

Pathways

KEGG:

Arachidonic acid metabolism
Metabolic pathways

Reactome:

Synthesis of 12-eicosatetraenoic acid derivatives

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital ichthyosis	Congenital ichthyosis, Collodion Fetus	rs118203935, rs118203936, rs118203937, rs199422216, rs199422217, rs1561831582, rs28940268, rs28940269, rs28940568, rs28940270, rs387906284, rs387906285, rs137853289, rs267606622, rs121434232, rs121434233, rs121434234, rs137852931, rs137852932, rs137853131, rs387906349, rs137853023, rs137853024, rs2139023508, rs121918719, rs121918728, rs121918716, rs121918717, rs121918718, rs121918720, rs121918721, rs121918722, rs121918723, rs2139018490, rs121918725, rs121918726, rs121918727, rs121918730, rs121918731, rs121918732, rs398122900, rs397514522, rs398122901, rs878853259, rs397514523, rs397514524, rs397514525, rs143473912, rs398122902, rs398122903, rs398122904, rs398122905, rs397514526, rs397514527, rs397514528, rs397514529, rs1598181810, rs397514532, rs199766569, rs397514533, rs786205120, rs745480657, rs1355284797, rs1561864453, rs1561853847, rs587776996, rs762679102, rs141340759, rs587777262, rs587777263, rs199545653, rs863223405, rs370031870, rs864321707, rs753798494, rs114863111, rs11891778, rs780990272, rs886039654, rs752509098, rs750066836, rs142634031, rs886041250, rs886041950, rs200491579, rs147149459, rs531800013, rs781006633, rs370356566, rs201868387, rs1057517836, rs904122716, rs151054393, rs531650682, rs139208806, rs959284348, rs1170446813, rs781053760, rs369445146, rs922934422, rs202128350, rs745368359, rs139375856, rs199503269, rs1064794422, rs367699137, rs762667660, rs1114167426, rs1114167425, rs1114167424, rs762765702, rs1131692156, rs1555643304, rs775524204, rs1554138062, rs771820315, rs1555306238, rs760429286, rs1553520468, rs774363396, rs1555305836, rs1220151696, rs1555306172, rs140000324, rs752349623, rs1555305725, rs1555305783, rs1555306113, rs779287673, rs1437822062, rs776068111, rs1555306117, rs1322979131, rs199678720, rs1211601030, rs147916609, rs1156392436, rs773303931, rs1044429462, rs1555306089, rs1555306102, rs1296165092, rs1199770893, rs972054392, rs201432046, rs758568142, rs118091316, rs369811073, rs1568357749, rs773886415, rs1382435790, rs770500550, rs776275777, rs1568360348, rs1568360387, rs1568360475, rs1568360526, rs1568360554, rs1568361250, rs751937099, rs768098854, rs767352854, rs755885838, rs370734976, rs1568362605, rs1568362644, rs769229606, rs201129618, rs1568364101, rs1568364107, rs1568364117, rs200581968, rs144961059, rs1568365205, rs1167473603, rs1360295659, rs1187032187, rs1559120651, rs200806519, rs1566380103, rs1182312612, rs761068277, rs764355087, rs1559134341, rs1561831443, rs373501601, rs1373230987, rs533584507, rs1582086407, rs746575171, rs538068583, rs1566377068, rs1202280089, rs1381998109, rs543521135, rs1247223599, rs773777400, rs1230140208, rs1566381457, rs1567644030, rs1567980596, rs746723399, rs1028050037, rs1567985231, rs1567985261, rs1311967606, rs1296095311, rs765682032, rs1568005543, rs1449980834, rs745942843, rs112419023, rs1566378425, rs1581262988, rs1581265561, rs775903553, rs900769357, rs371608909, rs777992589, rs1581271869, rs1581272003, rs1212378071, rs1027052344, rs375688767, rs1581272834, rs886060339, rs1581273254, rs1452328130, rs1581269752, rs1581271844, rs1207879599, rs1582078740, rs766188849, rs753687060, rs1594571148, rs1598181642, rs1574984736, rs1596772428, rs867950920, rs1594568541, rs760428119	21739938
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Ichthyosis with hypotrichosis	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2	rs1114167426, rs1114167425, rs1114167424, rs762765702, rs530109812, rs774363396, rs760309815, rs140526640, rs1303127476	19890349, 19131948, 16116617, 15629692, 25998749, 11773004
Keratitis	Keratitis	rs587776571
Lamellar ichthyosis	ICHTHYOSIS, LAMELLAR, 5, Lamellar ichthyosis	rs118203935, rs118203937, rs199422216, rs199422217, rs28940270, rs137853289, rs137853134, rs121918716, rs121918717, rs121918718, rs121918720, rs121918722, rs121918723, rs121918725, rs121918731, rs121918732, rs397514525, rs143473912, rs397514532, rs199766569, rs587779765, rs587776384, rs370031870, rs757520757, rs752509098, rs142634031, rs886041250, rs200491579, rs147149459, rs781006633, rs370356566, rs781053760, rs199503269, rs367699137, rs938583000, rs1554138062, rs771820315, rs760429286, rs781631629, rs760309815, rs779287673, rs1322979131, rs1296165092, rs118091316, rs369811073, rs1382435790, rs768098854, rs767352854, rs769229606, rs1567982673, rs761068277, rs538068583, rs543521135, rs1230140208, rs1311967606, rs1296095311, rs375688767
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
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
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	22919386
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Chronic otitis media			ClinVar
Congenital Ichthyosis	autosomal recessive congenital ichthyosis 3			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Alopecia	Associate	26370990
Hyperkeratosis Epidermolytic	Associate	26370990, 29935003
Ichthyosiform Erythroderma Congenital	Associate	27025581
Ichthyosis	Associate	27025581
Lamellar ichthyosis type 3	Associate	17139268, 19131948, 26578203, 30600594
Prostatic Neoplasms	Associate	30678711
Self Healing Collodion Baby	Associate	19890349
Skin Diseases	Associate	26370990, 29130490
Trichophyton infection	Associate	26370990