Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5660 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Prosaposin |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PSAP |
SynonymsGene synonyms aliases
|
GLBA, PARK24, PSAPD, SAP1, SAP2 |
ChromosomeChromosome number
|
10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q22.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly i |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121918103 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs121918104 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
rs121918105 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
rs121918106 |
T>A,C |
Pathogenic |
Missense variant, initiator codon variant |
rs121918107 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
rs121918108 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
rs121918109 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs121918110 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs150177878 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs200319381 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs377027316 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs558427025 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs574280149 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs757687480 |
AAC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
rs1431844269 |
CTT>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
rs1554879741 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1554879785 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1554880848 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1564815053 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1589446748 |
T>C |
Pathogenic |
Splice acceptor variant |
rs1589448124 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1589451049 |
C>A |
Pathogenic |
Splice acceptor variant |
rs1589451050 |
T>C |
Pathogenic |
Splice acceptor 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:0002020 |
Function |
Protease binding |
IPI |
24872419 |
GO:0002576 |
Process |
Platelet degranulation |
TAS |
|
GO:0004565 |
Function |
Beta-galactosidase activity |
IDA |
1454804 |
GO:0005515 |
Function |
Protein binding |
IPI |
16713569, 20709014, 22431521, 24872419, 26370502, 32296183, 32814053 |
GO:0005543 |
Function |
Phospholipid binding |
IDA |
14674747 |
GO:0005576 |
Component |
Extracellular region |
HDA |
27068509 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005615 |
Component |
Extracellular space |
HDA |
16502470, 20551380 |
GO:0005615 |
Component |
Extracellular space |
IBA |
21873635 |
GO:0005615 |
Component |
Extracellular space |
IDA |
1454804 |
GO:0005615 |
Component |
Extracellular space |
ISS |
22261194 |
GO:0005764 |
Component |
Lysosome |
IBA |
21873635 |
GO:0005764 |
Component |
Lysosome |
IDA |
22431521, 26370502, 28541286 |
GO:0005765 |
Component |
Lysosomal membrane |
TAS |
|
GO:0005770 |
Component |
Late endosome |
IDA |
26370502 |
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0006687 |
Process |
Glycosphingolipid metabolic process |
TAS |
|
GO:0006869 |
Process |
Lipid transport |
TAS |
1454804 |
GO:0007041 |
Process |
Lysosomal transport |
IDA |
26370502 |
GO:0007041 |
Process |
Lysosomal transport |
IMP |
28541286, 28835281 |
GO:0007186 |
Process |
G protein-coupled receptor signaling pathway |
TAS |
|
GO:0007193 |
Process |
Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway |
IBA |
21873635 |
GO:0008047 |
Function |
Enzyme activator activity |
TAS |
2717620 |
GO:0008289 |
Function |
Lipid binding |
TAS |
1454804 |
GO:0010506 |
Process |
Regulation of autophagy |
TAS |
22949512 |
GO:0019216 |
Process |
Regulation of lipid metabolic process |
IBA |
21873635 |
GO:0035577 |
Component |
Azurophil granule membrane |
TAS |
|
GO:0042803 |
Function |
Protein homodimerization activity |
IDA |
18462685 |
GO:0043202 |
Component |
Lysosomal lumen |
TAS |
|
GO:0043231 |
Component |
Intracellular membrane-bounded organelle |
IDA |
|
GO:0043312 |
Process |
Neutrophil degranulation |
TAS |
|
GO:0050790 |
Process |
Regulation of catalytic activity |
IEA |
|
GO:0060736 |
Process |
Prostate gland growth |
IBA |
21873635 |
GO:0060742 |
Process |
Epithelial cell differentiation involved in prostate gland development |
IBA |
21873635 |
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
HDA |
27559042 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867, 23533145 |
GO:1905572 |
Process |
Ganglioside GM1 transport to membrane |
IDA |
1454804 |
GO:1905573 |
Function |
Ganglioside GM1 binding |
IDA |
1454804 |
GO:1905574 |
Function |
Ganglioside GM2 binding |
IDA |
1454804 |
GO:1905575 |
Function |
Ganglioside GM3 binding |
IDA |
1454804 |
GO:1905576 |
Function |
Ganglioside GT1b binding |
IDA |
1454804 |
GO:1905577 |
Function |
Ganglioside GP1c binding |
IDA |
1454804 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P07602 |
Protein name |
Prosaposin (Proactivator polypeptide) [Cleaved into: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sphingolipid activator protein 1) (SAP-1) (Sulfatide/GM1 activator); Saposin-C (A1 activator) (Co-bet |
Protein function |
Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic li |
PDB |
1M12
,
1N69
,
1SN6
,
2DOB
,
2GTG
,
2QYP
,
2R0R
,
2R1Q
,
2RB3
,
2Z9A
,
3BQP
,
3BQQ
,
4DDJ
,
4UEX
,
4V2O
,
6SLR
,
8EQU
,
9AVS
,
9AXG
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02199 |
SapA |
22 → 54 |
Saposin A-type domain |
Family |
PF05184 |
SapB_1 |
61 → 98 |
Saposin-like type B, region 1 |
Domain |
PF03489 |
SapB_2 |
104 → 138 |
Saposin-like type B, region 2 |
Family |
PF05184 |
SapB_1 |
196 → 234 |
Saposin-like type B, region 1 |
Domain |
PF03489 |
SapB_2 |
239 → 271 |
Saposin-like type B, region 2 |
Family |
PF05184 |
SapB_1 |
313 → 350 |
Saposin-like type B, region 1 |
Domain |
PF03489 |
SapB_2 |
355 → 388 |
Saposin-like type B, region 2 |
Family |
PF05184 |
SapB_1 |
407 → 444 |
Saposin-like type B, region 1 |
Domain |
PF03489 |
SapB_2 |
449 → 482 |
Saposin-like type B, region 2 |
Family |
PF02199 |
SapA |
492 → 524 |
Saposin A-type domain |
Family |
|
Sequence |
|
Sequence length |
524 |
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.
|
|
Associated diseases
|
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 |
|
Asthma |
Childhood asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
23829686 |
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 |
|
Developmental regression |
Developmental regression |
rs1224421127 |
|
Encephalopathy |
Encephalopathy due to prosaposin deficiency |
rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1555202947, rs1555203557, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs563025075, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842 |
|
Gaucher disease |
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY, Atypical Gaucher disease due to saposin C deficiency |
rs121908295, rs79653797, rs80356769, rs1064651, rs77369218, rs80356771, rs77829017, rs74500255, rs381737, rs387906315, rs121908310, rs121908298, rs76539814, rs397518433, rs121908299, rs75822236, rs121908302, rs364897, rs121908303, rs121908304, rs121908305, rs121908306, rs121908307, rs1141814, rs397518434, rs121908308, rs74598136, rs78198234, rs121908309, rs121908311, rs78973108, rs80356763, rs121908312, rs121908313, rs121908314, rs1571964338, rs121918105, rs121918106, rs121918108, rs121918109, rs121918110, rs80356772, rs1064644, rs439898, rs104886460, rs398123527, rs398123528, rs421016, rs398123530, rs398123532, rs61748906, rs381418, rs409652, rs80356768, rs794727908, rs747506979, rs878853317, rs878853320, rs878853315, rs878853321, rs878853314, rs1553217946, rs1553333346, rs1553217314, rs1553217879, rs1553217009, rs1553217294, rs1553216985, rs149171124, rs1553217626, rs772548282, rs1557901325, rs754743440, rs773409311, rs867929413, rs749714463, rs79796061, rs1237637353, rs761621516, rs1571969643, rs755265316, rs1571965880, rs765633380, rs1671890998 |
2060627, 17919309, 10682309, 27604308 |
Leukodystrophy |
Leukodystrophy, Infantile Globoid Cell Leukodystrophy |
rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417 |
15773042 |
Metachromatic leukodystrophy |
Metachromatic leukodystrophy, juvenile type, Metachromatic Leukodystrophy, Infant, Metachromatic Leukodystrophy, Adult-Type (disorder), Metachromatic leukodystrophy, adult form, Metachromatic leukodystrophy, late infantile form, Metachromatic leukodystrophy, juvenile form |
rs118203941, rs118203943, rs80338815, rs28940893, rs74315455, rs74315456, rs74315457, rs80338820, rs74315460, rs74315463, rs74315467, rs74315470, rs74315471, rs74315472, rs74315473, rs74315474, rs74315475, rs74315476, rs74315477, rs74315478, rs74315479, rs1569077723, rs74315481, rs28940894, rs74315483, rs28940895, rs74315485, rs759960679, rs121918110, rs74315458, rs80338819, rs199476391, rs199476380, rs199476351, rs199476352, rs60504011, rs199476358, rs199476373, rs199476375, rs199476365, rs199476345, rs199476341, rs199476366, rs199476384, rs199476367, rs199476342, rs199476355, rs199476349, rs199476389, rs199476359, rs199476360, rs199476356, rs199476382, rs398123411, rs398123414, rs398123415, rs398123416, rs398123418, rs398123419, rs774153480, rs765905826, rs754722529, rs786204673, rs786204599, rs80338823, rs768028181, rs886041911, rs761860059, rs1057517237, rs1057517036, rs1057516887, rs1057516638, rs1057517073, rs1057516373, rs1057516907, rs762284875, rs1057517429, rs1057517346, rs1057517044, rs1057516730, rs745884435, rs1057516595, rs1057516288, rs148092995, rs755635209, rs761606317, rs1085308016, rs1135401757, rs1135401756, rs1135401755, rs763880042, rs1135401754, rs551472773, rs750030142, rs1375757476, rs769892461, rs1555900849, rs761555167, rs1555900678, rs74315270, rs1555900900, rs753415648, rs1555900191, rs1555901056, rs1555901108, rs1555901112, rs1555900463, rs769152137, rs1555900623, rs1555901083, rs1227301119, rs1555900150, rs776748338, rs1555900989, rs1555901170, rs1431844269, rs1561197425, rs1569081823, rs1603444908, rs1603445026, rs2082644196, rs2082663514, rs74315459, rs751026400, rs2082689435, rs2082690324, rs2082676596, rs74315468, rs770171865, rs121918106, rs2082657747, rs1188592346, rs754898479, rs2082684340, rs146371968 |
24478108 |
Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 |
|
Polyneuropathy |
Polyneuropathy |
rs1597597437 |
|
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
|
Seizure |
Tonic - clonic seizures |
rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130 |
|
Sphingolipid activator protein 1 deficiency |
Metachromatic Leukodystrophy due to Saposin B Deficiency |
rs121918103, rs759960679, rs121918104, rs121918106, rs1589451049, rs121918107, rs1589446748, rs1589451050, rs1589448124, rs1554880848, rs1564815053, rs1431844269, rs770171865 |
2302219, 2019586, 24357685, 10682309, 30632081, 10196694, 17919309, 2320574, 27604308 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Bowel incontinence |
Fecal Incontinence |
|
|
Central nervous system demyelination |
Central nervous system demyelination |
|
|
Cholecystitis |
Cholecystitis |
|
|
Clonic seizures |
Generalized clonic seizures |
|
|
Combined saposin deficiency |
Combined Saposin Deficiency |
|
11309366, 19955343, 27604308, 1371116, 10682309, 17919309, 249900 |
Delusions |
Delusions |
|
|
Dementia |
Dementia |
|
|
Dysarthria |
Dysarthria |
|
|
Dysphagia |
Deglutition Disorders |
|
|
Neoplasm of gallbladder |
gallbladder neoplasm |
|
|
Hallucinations |
Hallucinations |
|
|
Hypoplasia of corpus callosum |
Hypoplasia of corpus callosum |
|
|
Krabbe disease |
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY, Infantile Krabbe disease |
|
24357685, 15773042, 27604308, 10682309, 17919309 |
Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
|
Mood swings |
Mood swings |
|
|
Movement disorders |
Movement Disorders |
|
15773042, 20484222, 19955343, 26831127 |
Osteopenia |
Osteopenia |
|
|
Respiratory failure |
Respiratory Failure |
|
|
Sensorineural hearing loss |
Sensorineural hearing loss, bilateral |
|
|
Sleep apnea |
Sleep Apnea, Central |
|
|
Spastic tetraparesis |
Spastic tetraparesis |
rs35077384 |
|
|
|
|