TOP3A (DNA topoisomerase III alpha)

Gene

• Entrez ID: 7156
• Gene name: DNA topoisomerase III alpha
• Gene symbol: TOP3A
• Synonyms: MGRISCE2, PEOB5, TOP3, ZGRF7
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200944917	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs376902371	T>C	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs752838075	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1288928564	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1555568139	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1597981046	TA>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046639	hsa-miR-222-3p	CLASH	23622248
MIRT044415	hsa-miR-320a	CLASH	23622248
MIRT680154	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT680153	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT680152	hsa-miR-4324	HITS-CLIP	23824327
MIRT680151	hsa-miR-544b	HITS-CLIP	23824327
MIRT680150	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT680149	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT680148	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT680146	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT680147	hsa-miR-1976	HITS-CLIP	23824327
MIRT680145	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT680144	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT680143	hsa-miR-1200	HITS-CLIP	23824327
MIRT680142	hsa-miR-4279	HITS-CLIP	23824327
MIRT680141	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT680154	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT680153	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT680152	hsa-miR-4324	HITS-CLIP	23824327
MIRT680151	hsa-miR-544b	HITS-CLIP	23824327
MIRT680150	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT680149	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT680148	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT680146	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT680147	hsa-miR-1976	HITS-CLIP	23824327
MIRT680145	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT680144	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT680143	hsa-miR-1200	HITS-CLIP	23824327
MIRT680142	hsa-miR-4279	HITS-CLIP	23824327
MIRT680141	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT1447307	hsa-miR-1281	CLIP-seq
MIRT1447308	hsa-miR-138	CLIP-seq
MIRT1447309	hsa-miR-141	CLIP-seq
MIRT1447310	hsa-miR-200a	CLIP-seq
MIRT1447311	hsa-miR-24	CLIP-seq
MIRT1447312	hsa-miR-3180-5p	CLIP-seq
MIRT1447313	hsa-miR-3614-5p	CLIP-seq
MIRT1447314	hsa-miR-3670	CLIP-seq
MIRT1447315	hsa-miR-3909	CLIP-seq
MIRT1447316	hsa-miR-4260	CLIP-seq
MIRT1447317	hsa-miR-4269	CLIP-seq
MIRT1447318	hsa-miR-4283	CLIP-seq
MIRT1447319	hsa-miR-4284	CLIP-seq
MIRT1447320	hsa-miR-4456	CLIP-seq
MIRT1447321	hsa-miR-4489	CLIP-seq
MIRT1447322	hsa-miR-4514	CLIP-seq
MIRT1447323	hsa-miR-4532	CLIP-seq
MIRT1447324	hsa-miR-4692	CLIP-seq
MIRT1447325	hsa-miR-4742-5p	CLIP-seq
MIRT1447326	hsa-miR-4772-3p	CLIP-seq
MIRT1447327	hsa-miR-498	CLIP-seq
MIRT1447328	hsa-miR-512-3p	CLIP-seq
MIRT1447329	hsa-miR-513a-3p	CLIP-seq
MIRT1447330	hsa-miR-665	CLIP-seq
MIRT2133726	hsa-miR-1234	CLIP-seq
MIRT2133727	hsa-miR-1275	CLIP-seq
MIRT1447307	hsa-miR-1281	CLIP-seq
MIRT2133728	hsa-miR-214	CLIP-seq
MIRT2133729	hsa-miR-302a	CLIP-seq
MIRT2133730	hsa-miR-302b	CLIP-seq
MIRT2133731	hsa-miR-302c	CLIP-seq
MIRT2133732	hsa-miR-302d	CLIP-seq
MIRT2133733	hsa-miR-302e	CLIP-seq
MIRT2133734	hsa-miR-3120-3p	CLIP-seq
MIRT2133735	hsa-miR-3130-3p	CLIP-seq
MIRT2133736	hsa-miR-3164	CLIP-seq
MIRT2133737	hsa-miR-3189-3p	CLIP-seq
MIRT2133738	hsa-miR-3619-5p	CLIP-seq
MIRT2133739	hsa-miR-362-5p	CLIP-seq
MIRT1447314	hsa-miR-3670	CLIP-seq
MIRT2133740	hsa-miR-372	CLIP-seq
MIRT2133741	hsa-miR-373	CLIP-seq
MIRT2133742	hsa-miR-4252	CLIP-seq
MIRT1447317	hsa-miR-4269	CLIP-seq
MIRT2133743	hsa-miR-4291	CLIP-seq
MIRT2133744	hsa-miR-4419a	CLIP-seq
MIRT2133745	hsa-miR-4438	CLIP-seq
MIRT2133746	hsa-miR-4510	CLIP-seq
MIRT1447322	hsa-miR-4514	CLIP-seq
MIRT2133747	hsa-miR-4519	CLIP-seq
MIRT2133748	hsa-miR-4520a-5p	CLIP-seq
MIRT2133749	hsa-miR-4520b-5p	CLIP-seq
MIRT1447323	hsa-miR-4532	CLIP-seq
MIRT2133750	hsa-miR-4665-5p	CLIP-seq
MIRT1447324	hsa-miR-4692	CLIP-seq
MIRT2133751	hsa-miR-4731-5p	CLIP-seq
MIRT1447325	hsa-miR-4742-5p	CLIP-seq
MIRT1447326	hsa-miR-4772-3p	CLIP-seq
MIRT1447327	hsa-miR-498	CLIP-seq
MIRT2133752	hsa-miR-500b	CLIP-seq
MIRT2133753	hsa-miR-5095	CLIP-seq
MIRT1447328	hsa-miR-512-3p	CLIP-seq
MIRT2133754	hsa-miR-520a-3p	CLIP-seq
MIRT2133755	hsa-miR-520b	CLIP-seq
MIRT2133756	hsa-miR-520c-3p	CLIP-seq
MIRT2133757	hsa-miR-520d-3p	CLIP-seq
MIRT2133758	hsa-miR-520e	CLIP-seq
MIRT2133759	hsa-miR-615-5p	CLIP-seq
MIRT2133760	hsa-miR-646	CLIP-seq
MIRT2133761	hsa-miR-661	CLIP-seq
MIRT2133762	hsa-miR-761	CLIP-seq
MIRT2133763	hsa-miR-922	CLIP-seq
MIRT2133764	hsa-miR-941	CLIP-seq
MIRT2354878	hsa-miR-1207-3p	CLIP-seq
MIRT2354879	hsa-miR-1228	CLIP-seq
MIRT2133726	hsa-miR-1234	CLIP-seq
MIRT1447307	hsa-miR-1281	CLIP-seq
MIRT2354880	hsa-miR-1288	CLIP-seq
MIRT2354881	hsa-miR-129-5p	CLIP-seq
MIRT2354882	hsa-miR-139-5p	CLIP-seq
MIRT2354883	hsa-miR-197	CLIP-seq
MIRT2133735	hsa-miR-3130-3p	CLIP-seq
MIRT2354884	hsa-miR-3149	CLIP-seq
MIRT2354885	hsa-miR-3199	CLIP-seq
MIRT2354886	hsa-miR-33a	CLIP-seq
MIRT2354887	hsa-miR-33b	CLIP-seq
MIRT2354888	hsa-miR-3618	CLIP-seq
MIRT1447314	hsa-miR-3670	CLIP-seq
MIRT2354889	hsa-miR-411	CLIP-seq
MIRT2133742	hsa-miR-4252	CLIP-seq
MIRT1447317	hsa-miR-4269	CLIP-seq
MIRT2133745	hsa-miR-4438	CLIP-seq
MIRT1447322	hsa-miR-4514	CLIP-seq
MIRT1447323	hsa-miR-4532	CLIP-seq
MIRT1447324	hsa-miR-4692	CLIP-seq
MIRT2354890	hsa-miR-4716-5p	CLIP-seq
MIRT2133751	hsa-miR-4731-5p	CLIP-seq
MIRT2354891	hsa-miR-4735-5p	CLIP-seq
MIRT1447325	hsa-miR-4742-5p	CLIP-seq
MIRT2354892	hsa-miR-4775	CLIP-seq
MIRT1447327	hsa-miR-498	CLIP-seq
MIRT2354893	hsa-miR-502-5p	CLIP-seq
MIRT2133753	hsa-miR-5095	CLIP-seq
MIRT2354894	hsa-miR-5096	CLIP-seq
MIRT1447328	hsa-miR-512-3p	CLIP-seq
MIRT2354895	hsa-miR-590-3p	CLIP-seq
MIRT2133761	hsa-miR-661	CLIP-seq
MIRT2354896	hsa-miR-767-5p	CLIP-seq
MIRT2133764	hsa-miR-941	CLIP-seq
MIRT2396209	hsa-miR-3121-5p	CLIP-seq
MIRT1447314	hsa-miR-3670	CLIP-seq
MIRT1447317	hsa-miR-4269	CLIP-seq
MIRT1447322	hsa-miR-4514	CLIP-seq
MIRT1447324	hsa-miR-4692	CLIP-seq
MIRT1447325	hsa-miR-4742-5p	CLIP-seq
MIRT1447307	hsa-miR-1281	CLIP-seq
MIRT1447323	hsa-miR-4532	CLIP-seq
MIRT1447327	hsa-miR-498	CLIP-seq
MIRT1447307	hsa-miR-1281	CLIP-seq
MIRT1447323	hsa-miR-4532	CLIP-seq
MIRT1447327	hsa-miR-498	CLIP-seq
MIRT1447307	hsa-miR-1281	CLIP-seq
MIRT1447323	hsa-miR-4532	CLIP-seq
MIRT1447327	hsa-miR-498	CLIP-seq
MIRT2648632	hsa-miR-1184	CLIP-seq
MIRT2648633	hsa-miR-1205	CLIP-seq
MIRT2354878	hsa-miR-1207-3p	CLIP-seq
MIRT2354879	hsa-miR-1228	CLIP-seq
MIRT2648634	hsa-miR-1252	CLIP-seq
MIRT2648635	hsa-miR-125a-3p	CLIP-seq
MIRT2648636	hsa-miR-1271	CLIP-seq
MIRT2648637	hsa-miR-128	CLIP-seq
MIRT1447307	hsa-miR-1281	CLIP-seq
MIRT2354880	hsa-miR-1288	CLIP-seq
MIRT2354881	hsa-miR-129-5p	CLIP-seq
MIRT1447308	hsa-miR-138	CLIP-seq
MIRT2648638	hsa-miR-182	CLIP-seq
MIRT1447311	hsa-miR-24	CLIP-seq
MIRT2396209	hsa-miR-3121-5p	CLIP-seq
MIRT2133735	hsa-miR-3130-3p	CLIP-seq
MIRT2354884	hsa-miR-3149	CLIP-seq
MIRT2648639	hsa-miR-3158-5p	CLIP-seq
MIRT2648640	hsa-miR-3160-5p	CLIP-seq
MIRT2648641	hsa-miR-3189-5p	CLIP-seq
MIRT2648642	hsa-miR-3192	CLIP-seq
MIRT2354885	hsa-miR-3199	CLIP-seq
MIRT1447313	hsa-miR-3614-5p	CLIP-seq
MIRT2648643	hsa-miR-3665	CLIP-seq
MIRT1447316	hsa-miR-4260	CLIP-seq
MIRT1447318	hsa-miR-4283	CLIP-seq
MIRT1447319	hsa-miR-4284	CLIP-seq
MIRT2648644	hsa-miR-4292	CLIP-seq
MIRT2648645	hsa-miR-4300	CLIP-seq
MIRT2648646	hsa-miR-4417	CLIP-seq
MIRT1447320	hsa-miR-4456	CLIP-seq
MIRT1447321	hsa-miR-4489	CLIP-seq
MIRT1447323	hsa-miR-4532	CLIP-seq
MIRT2354891	hsa-miR-4735-5p	CLIP-seq
MIRT2648647	hsa-miR-4758-3p	CLIP-seq
MIRT2354892	hsa-miR-4775	CLIP-seq
MIRT2648648	hsa-miR-4778-3p	CLIP-seq
MIRT2648649	hsa-miR-4794	CLIP-seq
MIRT1447327	hsa-miR-498	CLIP-seq
MIRT1447328	hsa-miR-512-3p	CLIP-seq
MIRT2648650	hsa-miR-544	CLIP-seq
MIRT2354895	hsa-miR-590-3p	CLIP-seq
MIRT2648651	hsa-miR-657	CLIP-seq
MIRT2354896	hsa-miR-767-5p	CLIP-seq
MIRT2648652	hsa-miR-920	CLIP-seq
MIRT2648653	hsa-miR-96	CLIP-seq
MIRT2648632	hsa-miR-1184	CLIP-seq
MIRT2648633	hsa-miR-1205	CLIP-seq
MIRT2354879	hsa-miR-1228	CLIP-seq
MIRT2648634	hsa-miR-1252	CLIP-seq
MIRT2648635	hsa-miR-125a-3p	CLIP-seq
MIRT2648636	hsa-miR-1271	CLIP-seq
MIRT2648637	hsa-miR-128	CLIP-seq
MIRT1447307	hsa-miR-1281	CLIP-seq
MIRT2354881	hsa-miR-129-5p	CLIP-seq
MIRT1447308	hsa-miR-138	CLIP-seq
MIRT2648638	hsa-miR-182	CLIP-seq
MIRT1447311	hsa-miR-24	CLIP-seq
MIRT2396209	hsa-miR-3121-5p	CLIP-seq
MIRT2354884	hsa-miR-3149	CLIP-seq
MIRT2648639	hsa-miR-3158-5p	CLIP-seq
MIRT2648640	hsa-miR-3160-5p	CLIP-seq
MIRT2648641	hsa-miR-3189-5p	CLIP-seq
MIRT2648642	hsa-miR-3192	CLIP-seq
MIRT1447313	hsa-miR-3614-5p	CLIP-seq
MIRT2648643	hsa-miR-3665	CLIP-seq
MIRT2354889	hsa-miR-411	CLIP-seq
MIRT1447316	hsa-miR-4260	CLIP-seq
MIRT1447318	hsa-miR-4283	CLIP-seq
MIRT1447319	hsa-miR-4284	CLIP-seq
MIRT2648644	hsa-miR-4292	CLIP-seq
MIRT2648645	hsa-miR-4300	CLIP-seq
MIRT2648646	hsa-miR-4417	CLIP-seq
MIRT1447320	hsa-miR-4456	CLIP-seq
MIRT1447321	hsa-miR-4489	CLIP-seq
MIRT1447323	hsa-miR-4532	CLIP-seq
MIRT2354891	hsa-miR-4735-5p	CLIP-seq
MIRT2648647	hsa-miR-4758-3p	CLIP-seq
MIRT2354892	hsa-miR-4775	CLIP-seq
MIRT2648648	hsa-miR-4778-3p	CLIP-seq
MIRT2648649	hsa-miR-4794	CLIP-seq
MIRT1447327	hsa-miR-498	CLIP-seq
MIRT1447328	hsa-miR-512-3p	CLIP-seq
MIRT2648650	hsa-miR-544	CLIP-seq
MIRT2354895	hsa-miR-590-3p	CLIP-seq
MIRT2648651	hsa-miR-657	CLIP-seq
MIRT2648652	hsa-miR-920	CLIP-seq
MIRT2648653	hsa-miR-96	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
USF1	Activation	9748294
USF2	Activation	11557042
YY1	Activation	9748294

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	TAS	8622991
GO:0003697	Function	Single-stranded DNA binding	IDA	29290614
GO:0003916	Function	DNA topoisomerase activity	IBA	21873635
GO:0003917	Function	DNA topoisomerase type I (single strand cut, ATP-independent) activity	IDA	20445207
GO:0005515	Function	Protein binding	IPI	10728666, 15775963, 16537486, 20360068, 20711169, 20826342, 23509288, 24509834
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006260	Process	DNA replication	TAS
GO:0006265	Process	DNA topological change	IBA	21873635
GO:0006265	Process	DNA topological change	IDA	20445207
GO:0008270	Function	Zinc ion binding	IEA
GO:0016605	Component	PML body	IDA	10728666
GO:0032042	Process	Mitochondrial DNA metabolic process	IMP	29290614
GO:0051304	Process	Chromosome separation	IMP	30057030
GO:0051321	Process	Meiotic cell cycle	TAS	8622991
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS

Other IDs

• MIM: 601243
• HGNC: 11992
• e!Ensembl: ENSG00000177302

Protein

• UniProt ID: Q13472
• Protein name: DNA topoisomerase 3-alpha (EC 5.6.2.1) (DNA topoisomerase III alpha)
• Protein function: Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a targ
• PDB: 4CGY, 4CHT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01751	Toprim	36 → 181	Toprim domain	Family
  PF01131	Topoisom_bac	195 → 607	DNA topoisomerase	Family
  PF01396	zf-C4_Topoisom	655 → 694	Topoisomerase DNA binding C4 zinc finger	Family
  PF06839	zf-GRF	811 → 852	GRF zinc finger	Domain
  PF06839	zf-GRF	895 → 939	GRF zinc finger	Domain

• Sequence:

  MIFPVARYALRWLRRPEDRAFSRAAMEMALRGVRKVLCVAEKNDAAKGIADLLSNGRMRR
  REGLSKFNKIYEFDYHLYGQNVTMVMTSVSGHLLAHDFQMQFRKWQSCNPLVLFEAEIEK
  YCPENFVDIKKTLERETRQCQALVIWTDCDREGENIGFEIIHVCKAVKPNLQVLRARFSE
  ITPHAVRTACENLTEPDQRVSDAVDVRQELDLRIGAAFTRFQTLRLQRIFPEVLAEQLIS
  YGSCQFPTLGFVVERFKAIQAFVPEIFHRIKVTHDHKDGIVEFNWKRHRLFNHTACLVLY
  QLCVEDPMATVVEVRSKPKSKWRPQALDTVELEKLASRKLRINAKETMRIAEKLYTQGYI
  SYPRTETNIFPRDLNLTVLVEQQTPDPRWGAFAQSILERGGPTPRNGNKSDQAHPPIHPT
  KYTNNLQGDEQRLYEFIVRHFLACCSQDAQGQETTVEIDIAQERFVAHGLMILARNYLDV
  YPYDHWSDKILPVYEQGSHFQPSTVEMVDGETSPPKLLTEADLIALMEKHGIGTDATHAE
  HIETIKARMYVGLTPDKRFLPGHLGMGLVEGYDSMGYEMSKPDLRAELEADLKLICDGKK
  DKFVVLRQQVQKYKQVFIEAVAKAKKLDEALAQYFGNGTELAQQEDIYPAMPEPIRKCPQ
  CNKDMVLKTKKNGGFYLSCMGFPECRSAVWLPDSVLEASRDSSVCPVCQPHPVYRLKLKF
  KRGSLPPTMPLEFVCCIGGCDDTLREILDLRFSGGPPRASQPSGRLQANQSLNRMDNSQH
  PQPADSRQTGSSKALAQTLPPPTAAGESNSVTCNCGQEAVLLTVRKEGPNRGRQFFKCNG
  GSCNFFLWADSPNPGAGGPPALAYRPLGASLGCPPGPGIHLGGFGNPGDGSGSGTSCLCS
  QPSVTRTVQKDGPNKGRQFHTCAKPREQQCGFFQWVDENTAPGTSGAPSWTGDRGRTLES
  EARSKRPRASSSDMGSTAKKPRKCSLCHQPGHTRPFCPQNR

• Sequence length: 1001

Pathways

KEGG:

Homologous recombination
Fanconi anemia pathway

Reactome:

HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microcephaly, growth restriction, and increased sister chromatid exchange	MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2	rs1288928564, rs752838075, rs1555568139	30057030
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	27386562
Progressive external ophthalmoplegia with mitochondrial dna deletions	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	rs111033572, rs111033573, rs111033574, rs111033575, rs111033576, rs111033577, rs28937887, rs111033579, rs80356543, rs267606682, rs104894632, rs121918310, rs104893631, rs137854431, rs113994099, rs113994095, rs121918044, rs121918045, rs113994098, rs121918051, rs121918054, rs121918055, rs104893873, rs104893874, rs104893876, rs28999114, rs515726199, rs515726201, rs137886900, rs281865495, rs397514659, rs1568079613, rs796052888, rs144500145, rs769410130, rs863223949, rs863224209, rs763615602, rs762550967, rs879255617, rs769827124, rs766294940, rs373442996, rs1057517675, rs1554887097, rs1554887213, rs200944917, rs376902371, rs1555453538, rs1567186779, rs758026634, rs1597981046, rs1596352300, rs775260762	29290614

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
Dwarfism	Dwarfism
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders
Intrauterine growth restriction, congenital multiple caf -au-lait macules-increased sister chromatid exchange syndrome	Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Mitochondrial diseases	Mitochondrial Diseases		29290614
Progressive external ophthalmoplegia	Chronic progressive external ophthalmoplegia	rs515726194, rs387906891, rs387906892, rs1556423295, rs2072267
Ptosis	Blepharoptosis, Ptosis	rs139920573
Sensory neuropathy	Sensory neuropathy