ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5167 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Ectonucleotide pyrophosphatase/phosphodiesterase 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ENPP1 |
SynonymsGene synonyms aliases
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ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1 |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6q23.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1044498 |
A>C,G |
Risk-factor, benign |
Coding sequence variant, missense variant |
rs7754561 |
A>G |
Benign, risk-factor |
3 prime UTR variant |
rs73541508 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs121908248 |
G>C,T |
Pathogenic |
Missense variant, coding sequence variant |
rs121908249 |
A>C,G |
Pathogenic |
Missense variant, coding sequence variant |
rs121918023 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs121918024 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
rs121918025 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121918026 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
rs142835743 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs149828062 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs267606784 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
rs373044722 |
C>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs374270497 |
C>A,T |
Uncertain-significance, pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs387906673 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
rs397518475 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs397518476 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
rs397518477 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
rs548504035 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs587776797 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
rs753851892 |
G>A |
Pathogenic |
Splice donor variant |
rs756541266 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs763922486 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs777367269 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
rs1554203715 |
CAGCTTCCTAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554278189 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554278331 |
G>- |
Pathogenic |
Splice donor variant, coding sequence variant |
rs1562523328 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1585841844 |
A>T |
Pathogenic |
Splice acceptor variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P22413 |
Protein name |
Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E-NPP 1) (Alkaline phosphodiesterase I) (EC 3.1.4.1) (Membrane component chromosome 6 surface marker 1) (Nucleotide diphosphatase) (Nucleotide pyrophosphatase) (NPPase) (EC 3.6.1.9) (Phosph |
Protein function |
Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by |
PDB |
2YS0
,
6WET
,
6WEU
,
6WEV
,
6WEW
,
6WFJ
,
8GHR
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01033 |
Somatomedin_B |
106 → 143 |
Somatomedin B domain |
Family |
PF01033 |
Somatomedin_B |
147 → 187 |
Somatomedin B domain |
Family |
PF01663 |
Phosphodiest |
212 → 538 |
Type I phosphodiesterase / nucleotide pyrophosphatase |
Family |
PF01223 |
Endonuclease_NS |
663 → 905 |
DNA/RNA non-specific endonuclease |
Domain |
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Sequence |
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Sequence length |
925 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Arterial calcification |
Arterial calcification of infancy, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, Generalized arterial calcification of infancy |
rs72653706, rs72664209, rs63750759, rs63750273, rs121918023, rs1554203715, rs121918024, rs121918025, rs121918026, rs121908248, rs267606784, rs1401810953, rs374270497, rs387906673, rs753851892, rs67561842, rs387906859, rs72650700, rs387906860, rs72653794, rs373044722, rs1562523328, rs1585841844 |
20016754, 15605415, 20016754, 16315058, 27467858, 15940697, 12881724, 22209248, 23430823 |
Coronary sclerosis |
Coronary Sclerosis, Medial, of Infancy |
rs121918025, rs756541266 |
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Craniosynostosis |
Craniosynostosis |
rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350 |
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Diabetes mellitus |
Diabetes Mellitus, Non-Insulin-Dependent |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 |
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Hearing loss |
Sensorineural Hearing Loss (disorder) |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 |
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Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
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Hypophosphatemic rickets |
Hypophosphatemic Rickets, Hypophosphatemic Rickets, Autosomal Recessive, 2, Autosomal recessive hypophosphatemic rickets |
rs104894347, rs28937882, rs587776696, rs587776697, rs587776698, rs121908248, rs587776797, rs121908249, rs193922701, rs193922702, rs886041227, rs886041363, rs886041296, rs886041369, rs866429868, rs1556025994, rs1064793847, rs1556128253, rs1554278331, rs899142959, rs373044722 |
20137772, 20137773, 15605415, 25741938 |
Hypophosphatemic vitamin d refractory rickets, x-linked |
Autosomal recessive hypophosphatemic vitamin D refractory rickets |
rs2146979490, rs137853268, rs137853269, rs137853270, rs137853271, rs151340626, rs193922454, rs193922455, rs193922456, rs193922457, rs193922458, rs193922459, rs193922460, rs797044808, rs875989883, rs886039583, rs886041361, rs886041364, rs886041368, rs886041372, rs886041227, rs886041223, rs886041695, rs886041363, rs886041225, rs886041631, rs886041446, rs886041362, rs886041839, rs886041367, rs886041374, rs886041529, rs886041359, rs886041224, rs886041369, rs886041226, rs1057517799, rs1057517798, rs866429868, rs770573978, rs1057521800, rs1064793956, rs1064793228, rs1064795106, rs1064796845, rs1131691731, rs1131691841, rs1131691645, rs151306376, rs1556010757, rs1556012055, rs202074612, rs770630990, rs1556012100, rs1556012094, rs1556014263, rs1556014287, rs1556020460, rs1556020474, rs1556020485, rs1556020752, rs1556020798, rs1556020818, rs771208171, rs1556023495, rs1556023503, rs1556023505, rs1556023528, rs1556024541, rs1556025314, rs1556025936, rs1556025968, rs1556026027, rs1556026042, rs1556029499, rs1556029516, rs1556029519, rs1556030465, rs1556030487, rs1556030502, rs1556036014, rs754449807, rs375593493, rs1269067103, rs1556070724, rs1556070890, rs1556071086, rs1556071123, rs1556071138, rs1064796928, rs1556091855, rs1556128043, rs1556128253, rs1556135308, rs1556135467, rs1556135477, rs772130004, rs886041296, rs1556138407, rs1556138590, rs1556138742, rs1556148392, rs1556148532, rs748792378, rs1240767654, rs1556151004, rs1556151071, rs1556151137, rs1556151545, rs1556200989, rs1556201034, rs1556201217, rs1556205815, rs1057517981, rs1556206093, rs1556206335, rs1556206403, rs1556138769, rs1556026033, rs1556020770, rs1400504292, rs1569442206, rs1602240890, rs1602240926, rs1602241023, rs1602244836, rs1602273900, rs1602274883, rs1602274893, rs1602274929, rs1602274950, rs1602288211, rs1602290398, rs1602292528, rs1556025994, rs1602303865, rs1602304005, rs1602307078, rs1602307094, rs1602307107, rs1602324484, rs1602324630, rs1602354302, rs1602363343, rs1602363550, rs1602395717, rs1602402229, rs1602402258, rs1602405079, rs1602405176, rs1602405239, rs1602405375, rs1602411514, rs1602439597, rs1602439611, rs1602439662, rs1602442819, rs1602442871, rs1602273769, rs1602244774, rs1602244810, rs915608304 |
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Hypopigmentation-punctate palmoplantar keratoderma syndrome |
Hypopigmentation-punctate palmoplantar keratoderma syndrome |
rs397518475, rs397518476, rs397518477 |
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Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 |
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Mitral valve prolapse |
Mitral Valve Prolapse Syndrome |
rs768737101 |
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Myocardial infarction |
Myocardial Infarction |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
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Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
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Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
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Osteochondrodysplasia |
Osteochondrodysplasias |
rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061 |
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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 |
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Pseudoxanthoma elasticum |
Pseudoxanthoma Elasticum |
rs72653706, rs72664209, rs60791294, rs63750427, rs72664233, rs63750759, rs387906352, rs63750459, rs28939701, rs72653744, rs63750273, rs28939702, rs63751325, rs63749856, rs63749823, rs63749796, rs67561842, rs387906859, rs72650700, rs146405172, rs797045078, rs63750622, rs63750473, rs767359198, rs72653772, rs63750457, rs72650699, rs72653794, rs67470842, rs1064793538, rs72664207, rs772434460, rs63750874, rs72664280, rs72653751, rs1006994885, rs1333662666, rs72664239, rs72664238, rs74315109, rs1448934731, rs72664222, rs947230593, rs63750700, rs1555506740, rs63751241, rs66913554, rs67791546, rs72664237, rs63750018, rs63751111, rs63750414, rs72653750, rs780887287, rs63751318, rs72664236, rs63750410, rs63750494, rs63750446, rs72664214, rs1297171898, rs1555507893, rs1555507903, rs72653749, rs72664234, rs1311228469, rs1555507925, rs1555507927, rs72664220, rs281865557, rs72653748, rs72653747, rs72653746, rs63750402, rs779018991, rs72653745, rs63751001, rs63751215, rs72664212, rs1555508604, rs1555508630, rs72664210, rs72664211, rs72653743, rs63749807, rs72664232, rs63750987, rs72664231, rs63749794, rs60975032, rs72657695, rs72657694, rs72653705, rs72657692, rs74315152, rs72664219, rs72653704, rs765405352, rs1481200467, rs67867306, rs72653703, rs72653797, rs72653796, rs72653793, rs111113625, rs1555512419, rs72653792, rs72664229, rs66492417, rs72653789, rs776513864, rs769405586, rs72653788, rs72653787, rs72653786, rs111113624, rs66616070, rs72653785, rs1555513085, rs72650701, rs1357894483, rs114303883, rs72653783, rs72653782, rs72664227, rs72653781, rs74315130, rs72653780, rs1555513222, rs1438851867, rs1555513581, rs72664218, rs72653777, rs72653776, rs1555514439, rs1555514467, rs1313008538, rs1264741133, rs72664217, rs368017088, rs1555514927, rs72653769, rs72653768, rs1555517253, rs376518465, rs72653764, rs387906353, rs72653759, rs72650698, rs72653758, rs72664204, rs72664205, rs1555518824, rs72664226, rs78678589, rs72664216, rs72650697, rs763591743, rs1343632105, rs1315925055, rs72653755, rs72653754, rs1555520991, rs1474063386, rs72653753, rs879956688, rs1002088882, rs1555522983, rs1555522997, rs72664203, rs1555523429, rs74315110, rs1555523438, rs72664223, rs1555523535, rs72657702, rs1555523841, rs1596649191, rs1596678798, rs1596687174, rs2046997344 |
25615550 |
Restrictive cardiomyopathy |
Restrictive cardiomyopathy |
rs104894729, rs397516153, rs727503513, rs727503499, rs727503504, rs730880231, rs1554401403, rs1563005534, rs1420394583 |
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Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Skeletal dysplasia |
Skeletal dysplasia |
rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Acne |
Acne |
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Angioid streaks |
Angioid Streaks |
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Atherosclerosis |
Atherosclerosis |
rs699947, rs59439148 |
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Atrophy |
Linear atrophy |
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Cole disease |
Cole disease |
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28964717, 26617416, 24075184, 19380683 |
Congestive heart failure |
Congestive heart failure |
rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 |
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Dwarfism |
Dwarfism |
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Endometrioma |
Endometrioma |
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20864642 |
Endometriosis |
Endometriosis |
rs1800629, rs1143634 |
20864642 |
Enthesitis |
Enthesitis |
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Hemiplegia/hemiparesis |
Hemiplegia/hemiparesis |
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High palate |
Byzanthine arch palate |
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Hyperkeratosis |
Hyperkeratosis |
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Hypoplasia of teeth |
Hypoplasia of teeth |
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Malabsorption syndrome |
Malabsorption Syndrome |
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Medullary nephrocalcinosis |
Medullary nephrocalcinosis |
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Multiple lipomata |
Multiple lipomata |
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Nephrocalcinosis |
Nephrocalcinosis |
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Ossification of the posterior longitudinal ligament of spine |
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE |
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10453738 |
Osteosclerosis |
Osteosclerosis |
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Phosphate diabetes |
Phosphate Diabetes |
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Polyarthritis |
Polyarthritis |
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Pulmonary stenosis |
Pulmonary Stenosis |
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Renal hypophosphatemia |
Renal hypophosphatemia |
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Retinal diseases |
Retinal Diseases |
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Rickets |
Adult Rickets |
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