FBXL4 (F-box and leucine rich repeat protein 4)

Gene

• Entrez ID: 26235
• Gene name: F-box and leucine rich repeat protein 4
• Gene symbol: FBXL4
• Synonyms (NCBI Gene): FBL4, FBL5, MTDPS13
• Disease Acronyms (UniProt): MTDPS13
• Chromosome: 6
• Chromosome location: 6q16.1-q16.2
• Summary: 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT619238	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT619237	hsa-miR-4513	HITS-CLIP	23824327
MIRT619236	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT619235	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT619234	hsa-miR-5189-3p	HITS-CLIP	23824327
MIRT619233	hsa-miR-4474-5p	HITS-CLIP	23824327
MIRT619232	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT619231	hsa-miR-573	HITS-CLIP	23824327
MIRT619230	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT619229	hsa-miR-4439	HITS-CLIP	23824327
MIRT440664	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440664	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT619238	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT619237	hsa-miR-4513	HITS-CLIP	23824327
MIRT619236	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT619235	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT619234	hsa-miR-5189-3p	HITS-CLIP	23824327
MIRT619233	hsa-miR-4474-5p	HITS-CLIP	23824327
MIRT619232	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT619231	hsa-miR-573	HITS-CLIP	23824327
MIRT619230	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT619229	hsa-miR-4439	HITS-CLIP	23824327
MIRT991129	hsa-miR-1178	CLIP-seq
MIRT991130	hsa-miR-129-5p	CLIP-seq
MIRT991131	hsa-miR-137	CLIP-seq
MIRT991132	hsa-miR-153	CLIP-seq
MIRT991133	hsa-miR-4302	CLIP-seq
MIRT991134	hsa-miR-448	CLIP-seq
MIRT991135	hsa-miR-450b-5p	CLIP-seq
MIRT991136	hsa-miR-4733-5p	CLIP-seq
MIRT991137	hsa-miR-507	CLIP-seq
MIRT991138	hsa-miR-548aa	CLIP-seq
MIRT991139	hsa-miR-557	CLIP-seq
MIRT1993910	hsa-miR-1279	CLIP-seq
MIRT1993911	hsa-miR-570	CLIP-seq
MIRT2227948	hsa-miR-3121-5p	CLIP-seq
MIRT2227949	hsa-miR-3647-3p	CLIP-seq
MIRT2227950	hsa-miR-4326	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	TAS	10531035
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005758	Component	Mitochondrial intermembrane space	IDA	23993194
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	10531035
GO:0016607	Component	Nuclear speck	IDA
GO:0019005	Component	SCF ubiquitin ligase complex	IBA	21873635
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0043687	Process	Post-translational protein modification	TAS

Other IDs

• MIM: 605654
• HGNC: 13601
• e!Ensembl: ENSG00000112234

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

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, kidney, liver, lung, pancreas, and placenta, but not in skeletal muscle. {ECO:0000269|PubMed:10531037}.
• Sequence:

  MSPVFPMLTVLTMFYYICLRRRARTATRGEMMNTHRAIESNSQTSPLNAEVVQYAKEVVD
  FSSHYGSENSMSYTMWNLAGVPNVFPSSGDFTQTAVFRTYGTWWDQCPSASLPFKRTPPN
  FQSQDYVELTFEQQVYPTAVHVLETYHPGAVIRILACSANPYSPNPPAEVRWEILWSERP
  TKVNASQARQFKPCIKQINFPTNLIRLEVNSSLLEYYTELDAVVLHGVKDKPVLSLKTSL
  IDMNDIEDDAYAEKDGCGMDSLNKKFSSAVLGEGPNNGYFDKLPYELIQLILNHLTLPDL
  CRLAQTCKLLSQHCCDPLQYIHLNLQPYWAKLDDTSLEFLQSRCTLVQWLNLSWTGNRGF
  ISVAGFSRFLKVCGSELVRLELSCSHFLNETCLEVISEMCPNLQALNLSSCDKLPPQAFN
  HIAKLCSLKRLVLYRTKVEQTALLSILNFCSELQHLSLGSCVMIEDYDVIASMIGAKCKK
  LRTLDLWRCKNITENGIAELASGCPLLEELDLGWCPTLQSSTGCFTRLAHQLPNLQKLFL
  TANRSVCDTDIDELACNCTRLQQLDILGTRMVSPASLRKLLESCKDLSLLDVSFCSQIDN
  RAVLELNASFPKVFIKKSFTQ

• Sequence length: 621

Pathways

Reactome:

Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease term	Disease name	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 term	Disease name	Evidence	References	Source
Mitochondrial DNA Depletion Syndrome	mitochondrial DNA depletion syndrome 13			GenCC
Leigh Syndrome	Leigh syndrome			GenCC
Mental Depression	Mental Depression			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis	Associate	32779419
Acidosis Lactic	Associate	23993193, 25868664, 31442532, 32779419
Atrophy	Associate	23993194
Brain Diseases	Associate	23993193, 25868664, 32779419
Cardiomegaly	Associate	31442532
Cardiomyopathies	Associate	31442532
Developmental Disabilities	Associate	32779419
Facial Dysmorphism with Multiple Malformations	Associate	25868664
Feeding and Eating Disorders	Associate	32779419
Hand Foot and Mouth Disease	Associate	32634583
Mitochondrial Diseases	Associate	23993193, 23993194, 25735936, 31442532, 32559514
Mitochondrial Encephalomyopathies	Associate	23993194, 31442532
Mitochondrial encephalopathy	Associate	23993193
Muscle Hypotonia	Associate	25868664, 32779419
Neoplasm Metastasis	Associate	28698647
Neoplasms	Associate	28698647
Prostatic Neoplasms	Associate	28698647
Seizures	Associate	23993194
Sleep Initiation and Maintenance Disorders	Associate	23993193, 25868664
ST Elevation Myocardial Infarction	Stimulate	26367242
Succinate Coa Ligase Deficiency	Associate	37102372
Visceral myopathy familial external ophthalmoplegia	Associate	23993193, 31442532