IDS (iduronate 2-sulfatase)
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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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3423 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Iduronate 2-sulfatase |
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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IDS |
SynonymsGene synonyms aliases
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ID2S, MPS2, SIDS |
ChromosomeChromosome number
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X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xq28 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutati |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs61736892 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, non coding transcript variant, missense variant |
rs104894853 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs104894856 |
G>C,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs104894860 |
G>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, synonymous variant |
rs104894861 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs104894862 |
C>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs104894863 |
C>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs113993945 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs113993946 |
C>A,G,T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs113993947 |
C>G,T |
Pathogenic |
Splice acceptor variant |
rs113993948 |
G>A |
Pathogenic |
Coding sequence variant, synonymous variant, genic downstream transcript variant, downstream transcript variant |
rs113993949 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
rs113993951 |
T>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs113993952 |
T>A |
Pathogenic |
Intron variant |
rs113993953 |
T>A,C |
Pathogenic, benign |
Coding sequence variant, non coding transcript variant, missense variant |
rs113993955 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
rs138918423 |
C>T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant |
rs144081417 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
rs146458524 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, benign |
Missense variant, non coding transcript variant, coding sequence variant |
rs146846763 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
rs147108245 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, coding sequence variant |
rs193302904 |
C>T |
Pathogenic-likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs193302906 |
A>T |
Pathogenic |
Downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
rs193302907 |
C>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs193302908 |
G>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs193302910 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs193302911 |
G>C,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs193302912 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs193302913 |
AG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs199422227 |
G>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant |
rs199422228 |
C>G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs199422229 |
A>C,G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs199422230 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs199422231 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs201905166 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
rs398123247 |
C>G |
Pathogenic |
Splice donor variant |
rs398123248 |
A>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs398123249 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, intron variant, coding sequence variant |
rs398123250 |
A>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs398123251 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs483352904 |
GT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs483352905 |
GAG>- |
Pathogenic |
Non coding transcript variant, inframe deletion, coding sequence variant |
rs781997631 |
A>G,T |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant |
rs782347729 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
rs782738754 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
rs797044502 |
G>- |
Pathogenic |
Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
rs797044671 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
rs797044703 |
->TTGA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs797044750 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs797044770 |
->CCCTTAAACATCTT |
Pathogenic |
Stop gained, inframe indel, non coding transcript variant, coding sequence variant |
rs797044782 |
A>C |
Pathogenic |
Intron variant, downstream transcript variant, genic downstream transcript variant |
rs864622771 |
A>G |
Pathogenic |
Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
rs864622772 |
G>A,T |
Likely-pathogenic, pathogenic |
Stop gained, missense variant, genic downstream transcript variant, coding sequence variant |
rs864622773 |
T>C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs864622774 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs864622775 |
AGAGAAGGCCTCGGCC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
rs864622776 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs864622777 |
C>T |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
rs864622778 |
C>T |
Pathogenic |
Splice donor variant |
rs864622779 |
C>G,T |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs869025301 |
C>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
rs869025302 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs869025303 |
T>G |
Likely-pathogenic |
Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
rs869025304 |
AA>CCAGCTATACGG |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs869025305 |
ACCTCGGGATCGGG>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs869025306 |
AA>- |
Pathogenic |
Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
rs869025307 |
A>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs869025308 |
C>A |
Pathogenic |
Splice donor variant |
rs886044835 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs886044837 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
rs1085308006 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs1174495581 |
G>A,C |
Pathogenic |
Non coding transcript variant, coding sequence variant, synonymous variant, stop gained |
rs1557338127 |
G>A,T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, stop gained, downstream transcript variant |
rs1557338131 |
T>A |
Pathogenic |
Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant |
rs1557338153 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant |
rs1557338581 |
C>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1557339507 |
T>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1557339887 |
GAT>- |
Pathogenic |
Non coding transcript variant, inframe deletion, coding sequence variant |
rs1557339927 |
C>T |
Pathogenic |
Splice acceptor variant |
rs1557340221 |
TT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1557340280 |
G>A |
Pathogenic |
Intron variant, missense variant, non coding transcript variant, coding sequence variant |
rs1557340286 |
G>A,T |
Pathogenic |
Intron variant, non coding transcript variant, synonymous variant, coding sequence variant, stop gained |
rs1557340403 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
rs1557340558 |
CTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCG |
Pathogenic |
Initiator codon variant, 5 prime UTR variant, non coding transcript variant, upstream transcript variant |
rs1569560392 |
G>C |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant |
rs1569560489 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1569560527 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, synonymous variant |
rs1569560528 |
C>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
rs1602725543 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs1602730439 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant |
rs1602734459 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1602740912 |
T>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs1602742620 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant |
rs1602742854 |
GGCA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1602745838 |
C>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs1602748255 |
C>G |
Pathogenic |
Splice donor variant |
rs1602750400 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR 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 |
P22304 |
Protein name |
Iduronate 2-sulfatase (EC 3.1.6.13) (Alpha-L-iduronate sulfate sulfatase) (Idursulfase) [Cleaved into: Iduronate 2-sulfatase 42 kDa chain; Iduronate 2-sulfatase 14 kDa chain] |
Protein function |
Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate. |
PDB |
5FQL
,
6IOZ
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00884 |
Sulfatase |
37 → 416 |
Sulfatase |
Family |
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Sequence |
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Sequence length |
550 |
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 |
Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
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Hydrocephalus |
Hydrocephalus |
rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546 |
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Intestinal pseudoobstruction |
Intestinal Pseudo-Obstruction |
rs587776966, rs765907815 |
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Lung cancer |
Malignant neoplasm of lung |
rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 |
27935865 |
Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
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Mucopolysaccharidosis |
Mucopolysaccharidosis II, Mucopolysaccharidosis type 2, attenuated form, Mucopolysaccharidosis type 2, severe form |
rs118204435, rs118204437, rs118204438, rs118204439, rs118204441, rs118204442, rs118204448, rs118204443, rs118204444, rs118204449, rs118204446, rs118204447, rs118203939, rs118203941, rs431905493, rs431905494, rs118203942, rs118203943, rs118203944, rs431905495, rs431905496, rs121918172, rs121918173, rs121918174, rs121918177, rs121918179, rs377519272, rs121918183, rs786200863, rs121918180, rs121918181, rs121918182, rs121918184, rs121918185, rs72555360, rs72555390, rs28934274, rs72555362, rs72555391, rs72555363, rs587776525, rs72555364, rs72555366, rs72555367, rs72555372, rs72555368, rs72555392, rs587776526, rs193066451, rs483352894, rs121908282, rs121908283, rs483352895, rs483352896, rs121908286, rs104894590, rs104894591, rs104894592, rs483352897, rs104894594, rs104894595, rs104894597, rs104894598, rs118204024, rs118204025, rs104894596, rs104894601, rs34788341, rs34159654, rs119461974, rs483352898, rs119461975, rs483352899, rs483352900, rs104894635, rs104894636, rs104894641, rs104894637, rs104894638, rs104894639, rs104894640, rs104894643, rs199422227, rs104894853, rs199422228, rs104894856, rs104894860, rs113993948, rs199422229, rs104894861, rs199422230, rs483352904, rs199422231, rs113993946, rs2124007227, rs483352905, rs121965019, rs121965020, rs121965021, rs121965022, rs121965023, rs121965025, rs121965026, rs121965027, rs387906504, rs786200915, rs121965029, rs121965032, rs121965033, rs267606838, rs104894862, rs199794428, rs138504221, rs483352908, rs34901902, rs281865037, rs34946266, rs35878526, rs398123123, rs398123125, rs398123248, rs113993949, rs398123249, rs398123250, rs368454909, rs398123256, rs398123258, rs398123259, rs398123260, rs200726100, rs398123281, rs398123429, rs398123430, rs372893383, rs398123437, rs398123438, rs398123439, rs398123440, rs398124544, rs398124545, rs587779400, rs527236038, rs527236037, rs199801029, rs727503809, rs727503952, rs797044502, rs727503967, rs727504028, rs201101343, rs794726877, rs794727165, rs797044671, rs794727240, rs797044703, rs189115557, rs794727840, rs778700037, rs797044782, rs746756997, rs796052122, rs864622773, rs113993951, rs864622772, rs864622777, rs193302906, rs864622771, rs193302912, rs193302913, rs193302907, rs864622778, rs113993945, rs864622779, rs193302904, rs113993947, rs193302908, rs864622776, rs193302910, rs193302911, rs781997631, rs113993955, rs864622775, rs869025307, rs869025306, rs869025303, rs869025308, rs869025302, rs869025305, rs869025304, rs869025301, rs1557340558, rs777295041, rs762411583, rs869025584, rs764196171, rs758452450, rs747981483, rs761850746, rs370717845, rs376710410, rs148789453, rs753355844, rs770053354, rs146093755, rs143947056, rs886039894, rs886039895, rs886039914, rs144143780, rs886041370, rs121965031, rs777956287, rs199638097, rs376663785, rs886044835, rs886044837, rs886043347, rs752914124, rs886043792, rs757926581, rs781439830, rs766938111, rs753520553, rs376090795, rs374621913, rs745386663, rs779703983, rs753666460, rs1057517927, rs1057518644, rs750531880, rs1057521801, rs145798311, rs1064793027, rs1064795109, rs1085307112, rs776327443, rs1085307880, rs1085308006, rs762614315, rs1052471595, rs1555620827, rs1557339887, rs1196325597, rs1255777033, rs1554032122, rs749465732, rs1554032196, rs1554032220, rs766772376, rs1557339507, rs1553917209, rs1557338581, rs765711776, rs371886102, rs1488660868, rs1553917754, rs1554032243, rs1434169374, rs1244655820, rs991104525, rs794727896, rs772416503, rs1557340221, rs1053785648, rs1557340286, rs755710040, rs770947426, rs761607612, rs149239881, rs1028668536, rs1209154325, rs948490589, rs746776254, rs1557340403, rs148881970, rs555145190, rs745864233, rs537013895, rs1555621662, rs529855742, rs1264013707, rs755832705, rs775732598, rs1308500116, rs1557340233, rs1557340280, rs1557339927, rs759384989, rs1553607014, rs776098539, rs1230096882, rs762903007, rs1340421020, rs398123254, rs761793564, rs1249951282, rs779762183, rs746766617, rs1445719596, rs1553917428, rs192732174, rs1553917733, rs745915863, rs746936485, rs778700089, rs1553917756, rs780615798, rs794727701, rs1293215555, rs1553917044, rs762779421, rs1033313360, rs1430681871, rs994902207, rs1553917566, rs1553917192, rs1553917216, rs1214495121, rs776787370, rs750496798, rs919151683, rs756572099, rs754949360, rs991612107, rs1553917699, rs1553914737, rs1553914762, rs1553914740, rs1553914935, rs1554531744, rs775078211, rs1554537612, rs1554537807, rs1554532283, rs762402992, rs1447092074, rs1554533211, rs766835582, rs1554537613, rs1554537841, rs1554526454, rs749568919, rs747240928, rs1013345784, rs1555621448, rs1555621442, rs1431589133, rs1555621454, rs756865833, rs770684838, rs1555622019, rs1555622441, rs1555622351, rs1555622488, rs1555622545, rs1555622443, rs1555622559, rs751203469, rs1555621402, rs1555621432, rs1445294968, rs1555622002, rs1358994052, rs768918822, rs1180591588, rs781572815, rs1555622242, rs904672363, rs1424242431, rs1555620141, rs768814260, rs1555621984, rs1323958195, rs1555622354, rs200909691, rs1555621659, rs1555622533, rs1195831432, rs1555621397, rs777267343, rs764057581, rs1430122594, rs758785463, rs764134891, rs753472891, rs1555621425, rs1555621971, rs778336949, rs1555624080, rs1555622000, rs1555622250, rs1485628563, rs114625063, rs138387856, rs1250949842, rs778021009, rs1396150639, rs992677795, rs762031686, rs1555622505, rs763299645, rs1364203992, rs1555620214, rs774010006, rs1555622888, rs1555624111, rs1250300189, rs772311757, rs1174495581, rs1554069655, rs1554069660, rs1310996698, rs1251438062, rs771113472, rs1554069668, rs1554069669, rs1211360114, rs1209412483, rs769996056, rs200188234, rs555785323, rs1171277553, rs1554069786, rs1554069791, rs1554069793, rs1554069808, rs1554074118, rs771296632, rs1554074124, rs200793396, rs1554074132, rs1554074135, rs781510986, rs746396210, rs1554079265, rs1554079268, rs1554079284, rs1554079296, rs756671977, rs79970603, rs1554079302, rs1554079312, rs773492223, rs1554079318, rs1554079320, rs891298440, rs749989641, rs1408739927, rs779378413, rs147495977, rs1554086368, rs1554086370, rs1554086402, rs749015246, rs1554086414, rs1554086417, rs778868348, rs1554087395, rs1554087406, rs773460207, rs1554087423, rs1554087439, rs1554087441, rs1554087445, rs1484763838, rs1554088002, rs757061042, rs746206847, rs766914147, rs1554088079, rs1554088081, rs1554088099, rs768802200, rs1554089838, rs1554032090, rs1554032094, rs751010538, rs1554032110, rs1554032118, rs1299207831, rs1554032129, rs1554032131, rs750845916, rs1554032134, rs1554032145, rs1554032153, rs397514441, rs1554032155, rs1554032160, rs1179935748, rs1554032216, rs1554032217, rs1554032222, rs1028653411, rs1554032252, rs1559401428, rs754966840, rs756310864, rs1567538216, rs200374326, rs1557338127, rs1569560489, rs1567891258, rs1238361161, rs1567890328, rs1451709678, rs1567914459, rs1554032099, rs1567526805, rs1567893399, rs147036053, rs935464108, rs772656696, rs1569560392, rs1569560527, rs1569560528, rs1165218506, rs1369704445, rs369090960, rs1365770233, rs1599253805, rs1598738369, rs1598738720, rs1479831530, rs1598758001, rs1602725543, rs782347729, rs1602725808, rs1602740912, rs1602742620, rs1602742854, rs193302909, rs1577544451, rs748454316, rs752939204, rs1356329915, rs753767675, rs1577508778, rs1577508801, rs1167459660, rs1580121683, rs1328983959, rs1598749661, rs1598749984, rs1602734459, rs1602750400, rs4690223, rs773746427, rs1602748255, rs1264172545, rs760300454, rs1597575641, rs761725425, rs1599253815, rs1602745838, rs1602730439, rs1577541504, rs1353058781, rs774605197, rs1715086654, rs1715123409, rs931627770, rs1715188461, rs1386109118, rs1715237631, rs1220371654, rs1715290919, rs727503966, rs1355071930, rs1747989303, rs1910636198, rs1288895691, rs1422505598, rs1967935603, rs1305299665, rs2089305017, rs2089342939, rs2089378583, rs2089436271, rs750645480, rs911877265, rs1245939928, rs1557339532, rs2089306467, rs1967935882, rs1910631809, rs1910973930, rs559063128, rs1912009292, rs1478665723, rs746949976 |
12794697, 15314824, 14728992, 8829647, 10447264, 16505002, 9452044, 10215411, 27896113, 26693516, 1303211, 10671065, 11731225, 8364592, 9875019, 16699754, 9762601, 1284597, 10838181, 8830188, 28077157, 7599640, 9660053, 17063374, 28207863, 27246110, 7887413, 7728156, 9950361, 16480701, 11683780, 24125893, 27604308, 7981716, 18500569, 16133661, 21829674, 10814710, 10220152, 9501270, 9266380, 12655569, 1639384, 8940265, 9375851, 22990955, 24268528, 7866405, 21291454, 27351199, 17284421, 7581397, 8566953, 9222763, 8664909, 9573369, 8281149, 15614569, 17391447, 24780617, 27146977, 26762690, 11015461, 26407519, 9921913, 25681085 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital exomphalos |
Congenital exomphalos |
|
|
Congestive heart failure |
Congestive heart failure |
rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 |
|
Dolichocephaly |
Long narrow head |
|
|
Dwarfism |
Dwarfism |
|
|
Hunter`s syndrome |
Hunter`s syndrome, severe form, Hunter`s syndrome, mild form |
|
|
Hypertrichosis |
Hypertrichosis |
|
|
Lung neoplasms |
Lung Neoplasms |
|
27935865 |
Macroglossia |
Macroglossia |
|
|
Otitis media |
Recurrent otitis media |
rs601338, rs1047781, rs1800028 |
|
Papilledema |
Papilledema |
|
|
Pfaundler-hurler syndrome |
Pfaundler-Hurler Syndrome |
|
|
Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
|
Scaphocephaly |
Scaphycephaly |
|
|
Sleep apnea |
Sleep Apnea, Obstructive |
|
|
Sulfoiduronate sulfatase deficiency |
Sulfoiduronate Sulfatase Deficiency |
|
|
Tracheobronchomalacia |
Tracheobronchomalacia |
|
|
|
|
|