FBXL4 (F-box and leucine rich repeat protein 4)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
26235 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
F-box and leucine rich repeat protein 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
FBXL4 |
SynonymsGene synonyms aliases
|
FBL4, FBL5, MTDPS13 |
ChromosomeChromosome number
|
6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6q16.1-q16.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in pho |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs200440128 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant |
| rs201889294 |
G>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, genic downstream transcript variant |
| rs201989042 |
T>G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
| rs368965675 |
C>A |
Pathogenic |
Splice acceptor variant |
| rs398123059 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
| rs398123060 |
C>G |
Pathogenic-likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
| rs398123061 |
G>A |
Pathogenic-likely-pathogenic, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
| rs398123062 |
T>C |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
| rs747536886 |
A>G,T |
Pathogenic, uncertain-significance |
Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
| rs747618415 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
| rs750973870 |
G>A |
Likely-pathogenic |
Intron variant, stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs751656896 |
T>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant |
| rs754142863 |
C>A,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
| rs758395213 |
G>A |
Pathogenic-likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs761215749 |
C>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs761902417 |
->T |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs761974928 |
G>A |
Likely-pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant |
| rs765882664 |
CA>- |
Pathogenic |
Coding sequence variant, stop gained, inframe indel, genic downstream transcript variant, non coding transcript variant |
| rs766892502 |
GAGTA>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs767543583 |
->AA |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs772037717 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
| rs773850151 |
C>G,T |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
| rs775768793 |
A>T |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs878853112 |
TGCTCTGCAGAGTTGGGC>- |
Likely-pathogenic |
Genic downstream transcript variant, inframe deletion, coding sequence variant, non coding transcript variant |
| rs879255542 |
->T |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs886041625 |
->AGTC |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant, intron variant |
| rs964532159 |
G>A |
Pathogenic |
5 prime UTR variant, stop gained, intron variant, coding sequence variant |
| rs995995791 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs1057519447 |
A>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
| rs1182326570 |
T>A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant |
| rs1187832552 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant |
| rs1227524799 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
| rs1240941970 |
T>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
| rs1257765682 |
C>G |
Likely-pathogenic |
Intron variant |
| rs1345325140 |
C>G,T |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant |
| rs1350566881 |
A>G |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant, intron variant |
| rs1391578014 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs1394080480 |
C>A,T |
Pathogenic |
Intron variant, splice donor variant |
| rs1411907961 |
A>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
| rs1443104983 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs1554215766 |
A>T |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1554215804 |
A>G |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1554215959 |
T>C |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1554215964 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
| rs1554215979 |
A>T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1554215986 |
CT>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs1554215998 |
T>G |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1554216735 |
TTAC>- |
Pathogenic |
Splice donor variant, genic downstream transcript variant, intron variant |
| rs1554218789 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant |
| rs1554218821 |
G>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1554219474 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1554221189 |
T>A |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant, intron variant |
| rs1554221191 |
C>G |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant, intron variant |
| rs1554221258 |
C>T |
Pathogenic |
Splice acceptor variant, intron variant |
| rs1554222122 |
G>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained |
| rs1554222130 |
G>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained |
| rs1582367960 |
T>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant |
| rs1582402094 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs1582425360 |
ATTTACT>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant |
| rs1582425406 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant, intron variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
| Protein
|
| UniProt ID |
Q9UKA2 |
| Protein name |
F-box/LRR-repeat protein 4 (F-box and leucine-rich repeat protein 4) (F-box protein FBL4/FBL5) |
| Protein function |
Substrate-recognition component of the mitochondria-localized SCF-FBXL4 ubiquitin E3 ligase complex that plays a role in the restriction of mitophagy by controlling the degradation of BNIP3 and NIX mitophagy receptors (PubMed:36896912, PubMed:38 |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00646 |
F-box |
279 → 323 |
F-box domain |
Domain |
|
Sequence |
MSPVFPMLTVLTMFYYICLRRRARTATRGEMMNTHRAIESNSQTSPLNAEVVQYAKEVVD
FSSHYGSENSMSYTMWNLAGVPNVFPSSGDFTQTAVFRTYGTWWDQCPSASLPFKRTPPN
FQSQDYVELTFEQQVYPTAVHVLETYHPGAVIRILACSANPYSPNPPAEVRWEILWSERP
TKVNASQARQFKPCIKQINFPTNLIRLEVNSSLLEYYTELDAVVLHGVKDKPVLSLKTSL
IDMNDIEDDAYAEKDGCGMDSLNKKFSSAVLGEGPNNGYFDKLPYELIQLILNHLTLPDL
CRLAQTCKLLSQHCCDPLQYIHLNLQPYWAKLDDTSLEFLQSRCTLVQWLNLSWTGNRGF
ISVAGFSRFLKVCGSELVRLELSCSHFLNETCLEVISEMCPNLQALNLSSCDKLPPQAFN
HIAKLCSLKRLVLYRTKVEQTALLSILNFCSELQHLSLGSCVMIEDYDVIASMIGAKCKK
LRTLDLWRCKNITENGIAELASGCPLLEELDLGWCPTLQSSTGCFTRLAHQLPNLQKLFL
TANRSVCDTDIDELACNCTRLQQLDILGTRMVSPASLRKLLESCKDLSLLDVSFCSQIDN
RAVLELNASFPKVFIKKSFTQ
|
|
| Sequence length |
621 |
| 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 |
| 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 |
27182039 |
| Epileptic encephalopathy |
Encephalopathies |
rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325 |
|
| Leukodystrophy |
Leukodystrophy |
rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417 |
|
| Mitochondrial dna depletion syndrome |
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome |
rs121918307, rs515726185, rs121918308, rs121918309, rs2137715433, rs113994161, rs121908537, rs121908538, rs118192101, rs137854429, rs137854431, rs113994099, rs121918046, rs113994098, rs121918050, rs121918056, rs267606959, rs121909721, rs121909722, rs121909723, rs121909724, rs121913036, rs797044454, rs121913037, rs149977726, rs786205097, rs797044455, rs786205098, rs121913038, rs28931613, rs767245071, rs121913039, rs121913040, rs121913041, rs267607097, rs267607099, rs786205871, rs267607098, rs113994093, rs397507438, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs267607267, rs267607260, rs267607268, rs281865499, rs138439950, rs281865489, rs281865507, rs281865493, rs281865492, rs281865494, rs137886900, rs281865501, rs201889294, rs398123060, rs398123061, rs398123062, rs515726180, rs515726181, rs515726196, rs201732356, rs796052888, rs200440128, rs797046017, rs777604559, rs138479499, rs863224914, rs1064792855, rs1054084896, rs1064792857, rs1064792858, rs749827433, rs891107196, rs1064792860, rs1064792861, rs1064792862, rs199901350, rs1064792863, rs1064792864, rs1064792865, rs1064792866, rs1064792867, rs1064792868, rs1064792870, rs866001342, rs1064792872, rs892141220, rs1060499532, rs1060499534, rs1064792874, rs764275775, rs11479, rs1064792876, rs770277446, rs1064792877, rs1064792878, rs1064792879, rs773785934, rs1064792880, rs1064792881, rs1556486467, rs1556486029, rs1064792885, rs1064792886, rs1064792887, rs1064792888, rs1060499535, rs1064792889, rs1064792890, rs1064792891, rs1064792892, rs772037717, rs879255542, rs878853112, rs765882664, rs886041625, rs139590686, rs766160589, rs1057519447, rs375401970, rs886044113, rs749361266, rs1064793178, rs1554215766, rs751656896, rs747618415, rs1554215804, rs1554215959, rs1554215964, rs1554215986, rs1443104983, rs1411907961, rs1227524799, rs1554216735, rs750973870, rs1554218789, rs754142863, rs758395213, rs773850151, rs1554218821, rs1187832552, rs1554219474, rs775768793, rs368965675, rs1257765682, rs1394080480, rs1554221189, rs1554221191, rs964532159, rs1350566881, rs1554221258, rs1345325140, rs761902417, rs767543583, rs761974928, rs761215749, rs1554222122, rs1554222130, rs766892502, rs747536886, rs1182326570, rs1556488264, rs761665644, rs775576189, rs1354582663, rs1423840146, rs113055360, rs1553383467, rs1553383480, rs1057524366, rs1471478620, rs796052053, rs775445970, rs1011464708, rs140992482, rs1308442327, rs1369567672, rs750388794, rs1180285291, rs1572542092, rs764792655, rs1582402094, rs1584622847, rs1572543564, rs1572542511, rs200938111, rs772370243, rs1572555080, rs1582425360, rs1251044974, rs1573369925, rs1573374828, rs1582425406, rs1593479845, rs1582367960, rs1203886148, rs1573369929, rs1389068504, rs765023287, rs1587178460, rs1587186073, rs761608162, rs760629248, rs1052593047, rs972696428 |
23993193, 27743463, 25868664, 23993194, 27099744, 27182039, 26633545, 27182309, 27290639, 27858371 |
| Mitochondrial encephalomyopathy |
Mitochondrial Encephalomyopathies |
rs121434462, rs199474661, rs121434456, rs207459999, rs387906731, rs387906736 |
|
|
| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Cerebral atrophy |
Cerebral atrophy |
|
27182039 |
| Congenital epicanthus |
Congenital Epicanthus |
|
|
| Dysmorphic features |
Dysmorphic features |
|
25868664, 27743463, 23993193, 23993194, 10531035, 28940506 |
| Dysphagia |
Deglutition Disorders |
|
|
| Gastroesophageal reflux disease |
Gastroesophageal reflux disease |
|
|
| Hypoplasia of corpus callosum |
Hypoplasia of corpus callosum |
|
|
| Hypospadias |
Hypospadias |
|
|
| Mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
|
|
|
|
|
