NHERF1 (NHERF family PDZ scaffold protein 1)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9368 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
NHERF family PDZ scaffold protein 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
NHERF1 |
SynonymsGene synonyms aliases
|
EBP50, NHE-RF, NHERF, NHERF-1, NPHLOP2, SLC9A3R1 |
ChromosomeChromosome number
|
17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
17q25.1 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs119486097 |
G>A |
Pathogenic, likely-benign, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001726 |
Component |
Ruffle |
IEA |
|
GO:0002009 |
Process |
Morphogenesis of an epithelium |
NAS |
25775275 |
GO:0003096 |
Process |
Renal sodium ion transport |
IEA |
|
GO:0005102 |
Function |
Signaling receptor binding |
IBA |
21873635 |
GO:0005102 |
Function |
Signaling receptor binding |
IPI |
16456542 |
GO:0005515 |
Function |
Protein binding |
IPI |
9430655, 9671706, 11285285, 12444019, 12471024, 15020681, 15523054, 16456542, 16615918, 17110338, 17242191, 17244609, 17895247, 17911601, 19027007, 19555689, 19615732, 20395446, 20442317, 20937695, 21804599, 22506049, 23397142, 23414517, 24012959, 29568061, 32296183 |
GO:0005634 |
Component |
Nucleus |
IDA |
17895247 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
17895247, 20736378 |
GO:0005902 |
Component |
Microvillus |
IDA |
17242191 |
GO:0007009 |
Process |
Plasma membrane organization |
ISS |
25775275 |
GO:0007097 |
Process |
Nuclear migration |
IMP |
24862762 |
GO:0007191 |
Process |
Adenylate cyclase-activating dopamine receptor signaling pathway |
IEA |
|
GO:0007605 |
Process |
Sensory perception of sound |
IEA |
|
GO:0008013 |
Function |
Beta-catenin binding |
IPI |
17242191 |
GO:0008285 |
Process |
Negative regulation of cell population proliferation |
IDA |
20012548 |
GO:0008285 |
Process |
Negative regulation of cell population proliferation |
IMP |
20736378 |
GO:0008360 |
Process |
Regulation of cell shape |
IMP |
24862762 |
GO:0008361 |
Process |
Regulation of cell size |
IMP |
24862762 |
GO:0010642 |
Process |
Negative regulation of platelet-derived growth factor receptor signaling pathway |
ISS |
|
GO:0012505 |
Component |
Endomembrane system |
IEA |
|
GO:0014067 |
Process |
Negative regulation of phosphatidylinositol 3-kinase signaling |
ISS |
|
GO:0015185 |
Function |
Gamma-aminobutyric acid transmembrane transporter activity |
ISS |
|
GO:0015629 |
Component |
Actin cytoskeleton |
TAS |
9430655 |
GO:0016020 |
Component |
Membrane |
IDA |
20736378 |
GO:0016055 |
Process |
Wnt signaling pathway |
IEA |
|
GO:0016324 |
Component |
Apical plasma membrane |
IBA |
21873635 |
GO:0016324 |
Component |
Apical plasma membrane |
IDA |
22855531, 24862762, 25775275 |
GO:0017081 |
Function |
Chloride channel regulator activity |
IDA |
12881487 |
GO:0019902 |
Function |
Phosphatase binding |
IPI |
16456542 |
GO:0022612 |
Process |
Gland morphogenesis |
IMP |
24862762 |
GO:0030033 |
Process |
Microvillus assembly |
IMP |
20937695 |
GO:0030036 |
Process |
Actin cytoskeleton organization |
IEA |
|
GO:0030165 |
Function |
PDZ domain binding |
IPI |
16236806 |
GO:0030175 |
Component |
Filopodium |
IEA |
|
GO:0030336 |
Process |
Negative regulation of cell migration |
IEA |
|
GO:0030643 |
Process |
Cellular phosphate ion homeostasis |
IEA |
|
GO:0031526 |
Component |
Brush border membrane |
IEA |
|
GO:0031528 |
Component |
Microvillus membrane |
ISS |
|
GO:0031698 |
Function |
Beta-2 adrenergic receptor binding |
IPI |
9560162 |
GO:0031799 |
Function |
Type 2 metabotropic glutamate receptor binding |
IPI |
28392297 |
GO:0031800 |
Function |
Type 3 metabotropic glutamate receptor binding |
IPI |
28392297 |
GO:0031982 |
Component |
Vesicle |
HDA |
19190083 |
GO:0032415 |
Process |
Regulation of sodium:proton antiporter activity |
NAS |
9560162 |
GO:0032416 |
Process |
Negative regulation of sodium:proton antiporter activity |
IEA |
|
GO:0032426 |
Component |
Stereocilium tip |
IEA |
|
GO:0032782 |
Process |
Bile acid secretion |
ISS |
|
GO:0034635 |
Process |
Glutathione transport |
ISS |
|
GO:0034767 |
Process |
Positive regulation of ion transmembrane transport |
IEA |
|
GO:0043495 |
Function |
Protein-membrane adaptor activity |
IBA |
21873635 |
GO:0043621 |
Function |
Protein self-association |
IDA |
17242191 |
GO:0044062 |
Process |
Regulation of excretion |
IEA |
|
GO:0044782 |
Process |
Cilium organization |
ISS |
25775275 |
GO:0044877 |
Function |
Protein-containing complex binding |
IEA |
|
GO:0045121 |
Component |
Membrane raft |
IEA |
|
GO:0045159 |
Function |
Myosin II binding |
IEA |
|
GO:0045198 |
Process |
Establishment of epithelial cell apical/basal polarity |
IMP |
24862762 |
GO:0045199 |
Process |
Maintenance of epithelial cell apical/basal polarity |
IMP |
25775275 |
GO:0045199 |
Process |
Maintenance of epithelial cell apical/basal polarity |
ISS |
25775275 |
GO:0045859 |
Process |
Regulation of protein kinase activity |
ISS |
|
GO:0045930 |
Process |
Negative regulation of mitotic cell cycle |
IMP |
24862762 |
GO:0047485 |
Function |
Protein N-terminus binding |
IEA |
|
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IDA |
24862762 |
GO:0050780 |
Function |
Dopamine receptor binding |
IEA |
|
GO:0051683 |
Process |
Establishment of Golgi localization |
IMP |
24862762 |
GO:0051898 |
Process |
Negative regulation of protein kinase B signaling |
IMP |
20736378 |
GO:0051939 |
Process |
Gamma-aminobutyric acid import |
ISS |
|
GO:0060088 |
Process |
Auditory receptor cell stereocilium organization |
IEA |
|
GO:0060158 |
Process |
Phospholipase C-activating dopamine receptor signaling pathway |
IEA |
|
GO:0065003 |
Process |
Protein-containing complex assembly |
TAS |
9430655 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867, 19199708, 20458337, 23533145 |
GO:0070293 |
Process |
Renal absorption |
ISS |
|
GO:0070373 |
Process |
Negative regulation of ERK1 and ERK2 cascade |
IDA |
20012548 |
GO:0070851 |
Function |
Growth factor receptor binding |
IPI |
17242191 |
GO:0071944 |
Component |
Cell periphery |
IDA |
17895247 |
GO:0072659 |
Process |
Protein localization to plasma membrane |
IBA |
21873635 |
GO:0072659 |
Process |
Protein localization to plasma membrane |
IMP |
24862762 |
GO:0090090 |
Process |
Negative regulation of canonical Wnt signaling pathway |
IMP |
24862762 |
GO:0090660 |
Process |
Cerebrospinal fluid circulation |
ISS |
25775275, 28392297 |
GO:0097225 |
Component |
Sperm midpiece |
ISS |
|
GO:0097291 |
Process |
Renal phosphate ion absorption |
IMP |
18784102 |
GO:0098739 |
Process |
Import across plasma membrane |
ISS |
|
GO:0098797 |
Component |
Plasma membrane protein complex |
ISS |
|
GO:0150104 |
Process |
Transport across blood-brain barrier |
NAS |
30280653 |
GO:2001244 |
Process |
Positive regulation of intrinsic apoptotic signaling pathway |
IDA |
20012548 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
Protein
|
UniProt ID |
O14745 |
Protein name |
Na(+)/H(+) exchange regulatory cofactor NHE-RF1 (NHERF-1) (Ezrin-radixin-moesin-binding phosphoprotein 50) (EBP50) (Regulatory cofactor of Na(+)/H(+) exchanger) (Sodium-hydrogen exchanger regulatory factor 1) (Solute carrier family 9 isoform A3 regulatory |
Protein function |
Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized AD |
PDB |
1G9O
,
1GQ4
,
1GQ5
,
1I92
,
1SGH
,
2D10
,
2JXO
,
2KJD
,
2KRG
,
2M0T
,
2M0U
,
2M0V
,
2OZF
,
4JL7
,
4LMM
,
4MPA
,
4N6X
,
4PQW
,
4Q3H
,
6RQR
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF17820 |
PDZ_6 |
38 → 92 |
PDZ domain |
Domain |
PF00595 |
PDZ |
154 → 231 |
PDZ domain |
Domain |
PF09007 |
EBP50_C |
235 → 358 |
EBP50, C-terminal |
Domain |
|
Sequence |
|
Sequence length |
358 |
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
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Hypophosphatemia with nephrolithiasis or osteoporosis |
Dominant hypophosphatemia with nephrolithiasis or osteoporosis |
rs121918610, rs200893951, rs1554095568 |
|
Marfan syndrome |
Mammary Ductal Carcinoma |
rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946 |
28235801 |
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Invasive duct and lobular carcinoma |
Invasive Ductal Breast Carcinoma |
|
28235801 |
Nephrolithiasis |
Nephrolithiasis |
|
|
Nephrolithiasis-osteoporosis, hypophosphatemic |
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 |
|
18784102, 22506049, 19073985 |
Osteopenia |
Osteopenia |
|
|
Phosphate diabetes |
Phosphate Diabetes |
|
|
|
|
|