LIPA (lipase A, lysosomal acid type)
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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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3988 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Lipase A, lysosomal acid type |
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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LIPA |
SynonymsGene synonyms aliases
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CESD, LAL |
ChromosomeChromosome number
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10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q23.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman diseas |
SNPsSNP information provided by dbSNP.
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| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs2228159 |
A>C,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs116928232 |
C>G,T |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Synonymous variant, missense variant, coding sequence variant |
| rs121965086 |
A>G |
Pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
| rs121965087 |
G>C |
Pathogenic |
Intron variant, stop gained, coding sequence variant |
| rs139282720 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs143930279 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
| rs145066614 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
| rs145163592 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs147493628 |
T>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs200186130 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs200420117 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs201603238 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs267607218 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs367664486 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs369755163 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs371133960 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, synonymous variant |
| rs529668674 |
C>A,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs534838107 |
T>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs587778878 |
C>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
| rs747214463 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs747508159 |
T>A,C |
Likely-pathogenic |
Splice acceptor variant |
| rs748267444 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs749180806 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, missense variant |
| rs749625288 |
A>C,G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs751625944 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs753796180 |
->GG |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant, initiator codon variant |
| rs754124986 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs754964952 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs756016704 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs756310979 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs760901300 |
A>G,T |
Likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
| rs762559980 |
T>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs762960877 |
C>T |
Likely-pathogenic |
Splice donor variant, intron variant |
| rs766062562 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs766364179 |
G>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, 5 prime UTR variant |
| rs767688436 |
G>C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
| rs768411839 |
T>A,C |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs768826988 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs770074196 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs771904218 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs772137750 |
T>C |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs772684869 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs773533216 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
| rs776294856 |
A>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs776472526 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs779712562 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
| rs780495201 |
->A |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs797045094 |
G>A,T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant, missense variant |
| rs912441212 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1011619050 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, 5 prime UTR variant |
| rs1204744283 |
C>G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs1306336545 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1326903845 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1393039920 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1423914418 |
T>C,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1446626293 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1457072724 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1554864404 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1554865199 |
A>G |
Likely-pathogenic |
Splice donor variant |
| rs1554865206 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1554865214 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1554865576 |
A>C |
Pathogenic |
Stop gained, coding sequence variant |
| rs1554866004 |
C>T |
Likely-pathogenic |
Splice donor variant |
| rs1554866097 |
A>T |
Conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, missense variant, coding sequence variant |
| rs1554869292 |
A>C |
Likely-pathogenic |
Intron variant, splice donor variant |
| rs1564751995 |
C>T |
Pathogenic |
Splice donor variant |
| rs1564752665 |
TTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1564754574 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1564755287 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1589548972 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589553174 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589556901 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589558062 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589558169 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589558218 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589558414 |
T>C |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense 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 |
P38571 |
| Protein name |
Lysosomal acid lipase/cholesteryl ester hydrolase (Acid cholesteryl ester hydrolase) (LAL) (EC 3.1.1.13) (Cholesteryl esterase) (Diacylglycerol lipase) (Lipase A) (Sterol esterase) (Triacylglycerol ester hydrolase) (Triacylglycerol lipase) |
| Protein function |
Catalyzes the deacylation of cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol (PubMed:15269241, PubMed:1718995, PubMed:7204383, PubMed:8112342, PubMed:9633819). Hydrolyzes triglyc |
| PDB |
6V7N
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00561 |
Abhydrolase_1 |
80 → 381 |
alpha/beta hydrolase fold |
Domain |
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Sequence |
|
| Sequence length |
399 |
| 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 |
| Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
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| Cholestasis |
Cholestasis |
rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 |
8254026 |
| Coronary artery disease |
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
23202125, 28714975, 26343387, 21378988, 29212778 |
| 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 |
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| Hydrops fetalis |
Hydrops Fetalis |
rs28935477, rs1131691986 |
12666227 |
| Hypercholesterolemia |
Hypercholesterolemia, NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia |
rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs751141, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255 |
|
| Liver failure |
Liver Failure |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 |
|
| Myocardial infarction |
Myocardial Infarction |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
26343387 |
| Niemann-pick disease |
Niemann-Pick Disease, Type C |
rs28942105, rs120074130, rs797044431, rs28942106, rs120074131, rs80358257, rs80358259, rs80358254, rs120074134, rs786200877, rs28942108, rs786200878, rs120074136, rs786200879, rs120074117, rs120074119, rs267607073, rs120074120, rs120074121, rs120074123, rs120074124, rs387906289, rs120074125, rs120074126, rs120074127, rs120074128, rs267607075, rs267607074, rs80358260, rs80358268, rs80358266, rs11694, rs104894457, rs104894458, rs80358253, rs80358258, rs80358262, rs80358263, rs80358267, rs80358264, rs80358265, rs398123474, rs398123476, rs182812968, rs398123478, rs398123479, rs281860677, rs587779408, rs483352886, rs483352888, rs483352893, rs727504166, rs727504165, rs727504167, rs543206298, rs369368181, rs786204506, rs786204733, rs786204694, rs786204514, rs753508874, rs370129081, rs758902805, rs200444084, rs786204455, rs143124972, rs786204512, rs139751448, rs372030650, rs794727252, rs120074118, rs769904764, rs797044797, rs747143343, rs875989833, rs875989835, rs875989832, rs875989837, rs875989834, rs771336819, rs879253740, rs377130051, rs770321568, rs886043098, rs759826138, rs1057516949, rs1057516722, rs1057517098, rs1057516931, rs868423827, rs1057517086, rs1057517195, rs748165078, rs989639224, rs120074122, rs750779804, rs1057517345, rs1057516432, rs1057516454, rs1057517390, rs1057516854, rs1057517200, rs943924098, rs373940701, rs1057516403, rs369098773, rs376213990, rs1057517455, rs762124334, rs1057516462, rs759075595, rs1057517826, rs757475924, rs1057517978, rs1554935254, rs750323164, rs886044580, rs1554935136, rs774943545, rs780592540, rs1342372980, rs756366019, rs773941375, rs1554934193, rs1428599096, rs1225462507, rs1554934212, rs1554934309, rs764317969, rs1554935555, rs1554935600, rs1554935610, rs281860663, rs1428487333, rs1554933746, rs750157176, rs1422720020, rs1554935273, rs1554935669, rs751269562, rs757934797, rs1554935439, rs756031857, rs1554935746, rs1205990349, rs1554933751, rs1554933780, rs1554934210, rs1423504237, rs1554934406, rs1554935285, rs1437508852, rs1555345616, rs1555346368, rs777654308, rs1555345873, rs1555346369, rs753419933, rs746715353, rs1555632003, rs753768576, rs202140203, rs749012588, rs1261939149, rs1555635957, rs377515417, rs794727629, rs745777805, rs765729815, rs770962157, rs1564923612, rs759389193, rs201550531, rs281860665, rs767899043, rs768299417, rs750292546, rs1590735238, rs1590735307, rs781535659, rs1590739350, rs1018556947, rs752148586, rs1470998208, rs755160837, rs779528546, rs748411156, rs1848015403, rs1319643225, rs2086689501 |
20557099 |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension |
rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954 |
|
| Sphingomyelinase deficiency |
Niemann-Pick Disease, Type D, Niemann-Pick Disease, Type C1 |
rs28940897, rs28942105, rs797044431, rs28942106, rs80358257, rs80358259, rs80358254, rs120074134, rs120074135, rs28942107, rs786200877, rs80358252, rs28942108, rs786200878, rs120074136, rs786200879, rs387906289, rs104894458, rs80358253, rs80358258, rs398123284, rs483352883, rs483352885, rs483352886, rs483352879, rs483352887, rs483352888, rs483352889, rs483352890, rs483352882, rs483352881, rs483352884, rs483352880, rs543206298, rs730880963, rs369368181, rs758902805, rs200444084, rs786204455, rs786204586, rs143124972, rs786204714, rs786204641, rs786204512, rs764472245, rs139751448, rs372030650, rs794727897, rs863224902, rs777286835, rs876661319, rs377130051, rs768999208, rs751951695, rs886041356, rs886042268, rs886042270, rs770321568, rs759826138, rs750095738, rs369098773, rs1057516647, rs1057517149, rs1057517194, rs781261962, rs1057516603, rs550562774, rs376213990, rs1057517197, rs1057517455, rs1057517077, rs1057516813, rs1057516950, rs756853895, rs762124334, rs1057516260, rs752409181, rs1057516749, rs1057517186, rs1057516462, rs759075595, rs1057517005, rs778878523, rs1057518613, rs757475924, rs1057517978, rs113371321, rs372445155, rs1057518711, rs917070773, rs1064794009, rs750323164, rs886044580, rs1064795718, rs1555638409, rs1555637255, rs1555631982, rs1555632994, rs774943545, rs780592540, rs775629081, rs1298238512, rs1555633454, rs1555631998, rs773941375, rs1555637139, rs1428599096, rs1555637232, rs1555632971, rs1555633361, rs753419933, rs1555631653, rs1555631888, rs1555631957, rs746715353, rs775915490, rs1555633309, rs1555631571, rs758231839, rs1555634513, rs1555634690, rs1555632003, rs1555632977, rs753768576, rs1555634236, rs202140203, rs1555637164, rs749012588, rs1555641027, rs770580241, rs1555645630, rs1555633118, rs1555633326, rs1555634422, rs1055204017, rs1555642347, rs1555631610, rs1555631642, rs1555632182, rs771806960, rs761910746, rs1261939149, rs1555634508, rs1555635957, rs377515417, rs1555638833, rs1555642296, rs751249367, rs745777805, rs1567977251, rs765729815, rs1567965488, rs756366019, rs1598954455, rs772898831, rs768299417, rs750292546, rs1169032037, rs1160114136, rs1599011473, rs1598942578, rs755160837, rs2058596611, rs2058574038, rs2058616798, rs2058768195, rs2058769608, rs2058949697, rs2059233403, rs2058678962, rs2059231880, rs144973225 |
20557099 |
| Wolman disease |
Wolman Disease, Acid cholesteryl ester hydrolase deficiency, type 2 |
rs121965086, rs267607218, rs780495201, rs1564751995, rs121965087, rs587778878, rs116928232, rs756016704, rs1554865576, rs1457072724, rs753796180, rs1554866097, rs776472526, rs1204744283, rs762559980, rs766364179, rs779712562, rs1554865206, rs1554865214, rs772684869, rs770074196, rs762960877, rs1446626293, rs754964952, rs756310979, rs748267444, rs1423914418, rs1589558414, rs797045094, rs768411839, rs1410809018, rs1172318248 |
28502515, 9684740, 10562460, 25624737, 9367797, 11441129, 12666227, 21291321, 25620107, 8617513, 22227072, 21757691, 26252914, 31180157, 23583223, 24993530, 8254026, 9554751, 25525159, 10627498, 7499245, 22138108, 24792990, 2129132, 7833918, 21963785, 8598644, 24048164, 23424026, 23485521, 8146180, 8894696, 23430518, 7759067, 27604308, 24072694, 9633819, 8864960, 12666227, 8254026 |
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| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Adrenal calcification |
Adrenal calcification |
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| Arteriosclerosis |
Arteriosclerosis |
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| Cholesterol ester storage disease |
Cholesterol Ester Storage Disease, Cholesteryl ester storage disease |
|
8254026, 27604308, 24295952, 22227072 |
| Cirrhosis |
Cirrhosis |
rs119465999, rs144369314, rs8056684, rs112053857, rs75998507 |
|
| Coronary arteriosclerosis |
Coronary Arteriosclerosis |
|
21378988 |
| Coronary heart disease |
Coronary heart disease |
rs9289231, rs281864746 |
21606135, 21378988, 21966275 |
| Esophageal varix |
Esophageal Varices |
|
|
| Fatty liver |
Fatty Liver, Steatohepatitis |
|
|
| Liver fibrosis |
Fibrosis, Liver |
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| Malnutrition |
Malnutrition |
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|
|
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