RMND1 (required for meiotic nuclear division 1 homolog)

Gene

• Entrez ID: 55005
• Gene name: Required for meiotic nuclear division 1 homolog
• Gene symbol: RMND1
• Synonyms (NCBI Gene): C6orf96, COXPD11, RMD1, bA351K16, bA351K16.3
• Disease Acronyms (UniProt): COXPD11
• Chromosome: 6
• Chromosome location: 6q25.1
• Summary: The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115079861	C>G,T	Benign, pathogenic	Non coding transcript variant, stop lost, terminator codon variant, synonymous variant
rs142521318	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs144972972	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs370863743	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs397515421	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs606231472	C>A	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs759477396	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs763658299	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs771894262	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs773470671	C>T	Pathogenic	Splice donor variant
rs886037771	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886037772	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886037773	C>A,G	Pathogenic	Splice donor variant
rs1057519299	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs1427212110	CAGA>-	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1554340243	A>G	Likely-pathogenic	Stop lost, terminator codon variant, non coding transcript variant
rs1562800908	C>T	Pathogenic	Splice donor variant, intron variant
rs1582957532	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1582970514	C>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT681418	hsa-miR-106a-5p	HITS-CLIP	23706177
MIRT681417	hsa-miR-106b-5p	HITS-CLIP	23706177
MIRT681416	hsa-miR-17-5p	HITS-CLIP	23706177
MIRT681415	hsa-miR-20a-5p	HITS-CLIP	23706177
MIRT681414	hsa-miR-20b-5p	HITS-CLIP	23706177
MIRT681413	hsa-miR-519d-3p	HITS-CLIP	23706177
MIRT681412	hsa-miR-526b-3p	HITS-CLIP	23706177
MIRT681411	hsa-miR-93-5p	HITS-CLIP	23706177
MIRT681410	hsa-miR-302a-3p	HITS-CLIP	23706177
MIRT681409	hsa-miR-302b-3p	HITS-CLIP	23706177
MIRT681408	hsa-miR-302c-3p	HITS-CLIP	23706177
MIRT681407	hsa-miR-302d-3p	HITS-CLIP	23706177
MIRT681406	hsa-miR-302e	HITS-CLIP	23706177
MIRT681405	hsa-miR-372-3p	HITS-CLIP	23706177
MIRT681404	hsa-miR-373-3p	HITS-CLIP	23706177
MIRT681403	hsa-miR-520a-3p	HITS-CLIP	23706177
MIRT681402	hsa-miR-520b	HITS-CLIP	23706177
MIRT681401	hsa-miR-520c-3p	HITS-CLIP	23706177
MIRT681400	hsa-miR-520d-3p	HITS-CLIP	23706177
MIRT681399	hsa-miR-520e	HITS-CLIP	23706177
MIRT681398	hsa-miR-4438	HITS-CLIP	23706177
MIRT681397	hsa-miR-512-3p	HITS-CLIP	23706177
MIRT681396	hsa-miR-6504-3p	HITS-CLIP	23706177
MIRT681395	hsa-miR-619-5p	HITS-CLIP	23706177
MIRT681394	hsa-miR-6506-5p	HITS-CLIP	23706177
MIRT681393	hsa-miR-1827	HITS-CLIP	23706177
MIRT681392	hsa-miR-4731-5p	HITS-CLIP	23706177
MIRT681391	hsa-miR-5589-5p	HITS-CLIP	23706177
MIRT681390	hsa-miR-5095	HITS-CLIP	23706177
MIRT681389	hsa-miR-7151-3p	HITS-CLIP	23706177
MIRT681388	hsa-miR-5089-5p	HITS-CLIP	23706177
MIRT681387	hsa-miR-6806-5p	HITS-CLIP	23706177
MIRT681418	hsa-miR-106a-5p	HITS-CLIP	23706177
MIRT681417	hsa-miR-106b-5p	HITS-CLIP	23706177
MIRT681416	hsa-miR-17-5p	HITS-CLIP	23706177
MIRT681415	hsa-miR-20a-5p	HITS-CLIP	23706177
MIRT681414	hsa-miR-20b-5p	HITS-CLIP	23706177
MIRT681413	hsa-miR-519d-3p	HITS-CLIP	23706177
MIRT681412	hsa-miR-526b-3p	HITS-CLIP	23706177
MIRT681411	hsa-miR-93-5p	HITS-CLIP	23706177
MIRT681410	hsa-miR-302a-3p	HITS-CLIP	23706177
MIRT681409	hsa-miR-302b-3p	HITS-CLIP	23706177
MIRT681408	hsa-miR-302c-3p	HITS-CLIP	23706177
MIRT681407	hsa-miR-302d-3p	HITS-CLIP	23706177
MIRT681406	hsa-miR-302e	HITS-CLIP	23706177
MIRT681405	hsa-miR-372-3p	HITS-CLIP	23706177
MIRT681404	hsa-miR-373-3p	HITS-CLIP	23706177
MIRT681403	hsa-miR-520a-3p	HITS-CLIP	23706177
MIRT681402	hsa-miR-520b	HITS-CLIP	23706177
MIRT681401	hsa-miR-520c-3p	HITS-CLIP	23706177
MIRT681400	hsa-miR-520d-3p	HITS-CLIP	23706177
MIRT681399	hsa-miR-520e	HITS-CLIP	23706177
MIRT681398	hsa-miR-4438	HITS-CLIP	23706177
MIRT681397	hsa-miR-512-3p	HITS-CLIP	23706177
MIRT681396	hsa-miR-6504-3p	HITS-CLIP	23706177
MIRT681395	hsa-miR-619-5p	HITS-CLIP	23706177
MIRT681394	hsa-miR-6506-5p	HITS-CLIP	23706177
MIRT681393	hsa-miR-1827	HITS-CLIP	23706177
MIRT681392	hsa-miR-4731-5p	HITS-CLIP	23706177
MIRT681391	hsa-miR-5589-5p	HITS-CLIP	23706177
MIRT681390	hsa-miR-5095	HITS-CLIP	23706177
MIRT681389	hsa-miR-7151-3p	HITS-CLIP	23706177
MIRT681388	hsa-miR-5089-5p	HITS-CLIP	23706177
MIRT681387	hsa-miR-6806-5p	HITS-CLIP	23706177
MIRT1308329	hsa-miR-1200	CLIP-seq
MIRT1308330	hsa-miR-1227	CLIP-seq
MIRT1308331	hsa-miR-1228	CLIP-seq
MIRT1308332	hsa-miR-1268	CLIP-seq
MIRT1308333	hsa-miR-1268b	CLIP-seq
MIRT1308334	hsa-miR-1273f	CLIP-seq
MIRT1308335	hsa-miR-143	CLIP-seq
MIRT1308336	hsa-miR-1976	CLIP-seq
MIRT1308337	hsa-miR-329	CLIP-seq
MIRT1308338	hsa-miR-362-3p	CLIP-seq
MIRT1308339	hsa-miR-4279	CLIP-seq
MIRT1308340	hsa-miR-4324	CLIP-seq
MIRT1308341	hsa-miR-4708-5p	CLIP-seq
MIRT1308342	hsa-miR-4722-3p	CLIP-seq
MIRT1308343	hsa-miR-4729	CLIP-seq
MIRT1308344	hsa-miR-4770	CLIP-seq
MIRT1308345	hsa-miR-4794	CLIP-seq
MIRT1308346	hsa-miR-544b	CLIP-seq
MIRT1553114	hsa-miR-197	CLIP-seq
MIRT1553115	hsa-miR-3170	CLIP-seq
MIRT1553116	hsa-miR-3187-3p	CLIP-seq
MIRT1553117	hsa-miR-431	CLIP-seq
MIRT1553118	hsa-miR-4435	CLIP-seq
MIRT1553119	hsa-miR-4701-5p	CLIP-seq
MIRT1553120	hsa-miR-4716-5p	CLIP-seq
MIRT1553121	hsa-miR-4755-3p	CLIP-seq
MIRT1553122	hsa-miR-4781-3p	CLIP-seq
MIRT1553123	hsa-miR-5096	CLIP-seq
MIRT1553124	hsa-miR-511	CLIP-seq
MIRT1553125	hsa-miR-548s	CLIP-seq
MIRT1553126	hsa-miR-588	CLIP-seq
MIRT1308329	hsa-miR-1200	CLIP-seq
MIRT2091445	hsa-miR-122	CLIP-seq
MIRT1308334	hsa-miR-1273f	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT1308335	hsa-miR-143	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT1308336	hsa-miR-1976	CLIP-seq
MIRT2091448	hsa-miR-3064-5p	CLIP-seq
MIRT2091449	hsa-miR-3135b	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT2091451	hsa-miR-3650	CLIP-seq
MIRT2091452	hsa-miR-3652	CLIP-seq
MIRT1308339	hsa-miR-4279	CLIP-seq
MIRT1308340	hsa-miR-4324	CLIP-seq
MIRT2091453	hsa-miR-4430	CLIP-seq
MIRT2091454	hsa-miR-4505	CLIP-seq
MIRT1308341	hsa-miR-4708-5p	CLIP-seq
MIRT1308342	hsa-miR-4722-3p	CLIP-seq
MIRT1308344	hsa-miR-4770	CLIP-seq
MIRT2091455	hsa-miR-4772-3p	CLIP-seq
MIRT1308346	hsa-miR-544b	CLIP-seq
MIRT2091445	hsa-miR-122	CLIP-seq
MIRT2316057	hsa-miR-1248	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT2316058	hsa-miR-146b-3p	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT2091448	hsa-miR-3064-5p	CLIP-seq
MIRT2091449	hsa-miR-3135b	CLIP-seq
MIRT2316059	hsa-miR-3157-3p	CLIP-seq
MIRT2316060	hsa-miR-3173-5p	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT2091451	hsa-miR-3650	CLIP-seq
MIRT2091452	hsa-miR-3652	CLIP-seq
MIRT2316061	hsa-miR-4423-5p	CLIP-seq
MIRT2091453	hsa-miR-4430	CLIP-seq
MIRT2091454	hsa-miR-4505	CLIP-seq
MIRT2316062	hsa-miR-4757-5p	CLIP-seq
MIRT2091455	hsa-miR-4772-3p	CLIP-seq
MIRT2316063	hsa-miR-874	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT1308329	hsa-miR-1200	CLIP-seq
MIRT2612093	hsa-miR-1208	CLIP-seq
MIRT2091445	hsa-miR-122	CLIP-seq
MIRT1308334	hsa-miR-1273f	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT1308335	hsa-miR-143	CLIP-seq
MIRT2316058	hsa-miR-146b-3p	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT1308336	hsa-miR-1976	CLIP-seq
MIRT2091448	hsa-miR-3064-5p	CLIP-seq
MIRT2091449	hsa-miR-3135b	CLIP-seq
MIRT2316059	hsa-miR-3157-3p	CLIP-seq
MIRT2316060	hsa-miR-3173-5p	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT2091451	hsa-miR-3650	CLIP-seq
MIRT2091452	hsa-miR-3652	CLIP-seq
MIRT1308339	hsa-miR-4279	CLIP-seq
MIRT1308340	hsa-miR-4324	CLIP-seq
MIRT2316061	hsa-miR-4423-5p	CLIP-seq
MIRT2091453	hsa-miR-4430	CLIP-seq
MIRT2091454	hsa-miR-4505	CLIP-seq
MIRT1308341	hsa-miR-4708-5p	CLIP-seq
MIRT1308342	hsa-miR-4722-3p	CLIP-seq
MIRT1308344	hsa-miR-4770	CLIP-seq
MIRT2091455	hsa-miR-4772-3p	CLIP-seq
MIRT1308346	hsa-miR-544b	CLIP-seq
MIRT2612094	hsa-miR-627	CLIP-seq
MIRT2316063	hsa-miR-874	CLIP-seq
MIRT2612095	hsa-miR-924	CLIP-seq
MIRT1308329	hsa-miR-1200	CLIP-seq
MIRT2612093	hsa-miR-1208	CLIP-seq
MIRT2091445	hsa-miR-122	CLIP-seq
MIRT1308334	hsa-miR-1273f	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT1308335	hsa-miR-143	CLIP-seq
MIRT2316058	hsa-miR-146b-3p	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT1308336	hsa-miR-1976	CLIP-seq
MIRT2091448	hsa-miR-3064-5p	CLIP-seq
MIRT2091449	hsa-miR-3135b	CLIP-seq
MIRT2316059	hsa-miR-3157-3p	CLIP-seq
MIRT2316060	hsa-miR-3173-5p	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT2091451	hsa-miR-3650	CLIP-seq
MIRT2091452	hsa-miR-3652	CLIP-seq
MIRT1308339	hsa-miR-4279	CLIP-seq
MIRT1308340	hsa-miR-4324	CLIP-seq
MIRT2316061	hsa-miR-4423-5p	CLIP-seq
MIRT2091453	hsa-miR-4430	CLIP-seq
MIRT2091454	hsa-miR-4505	CLIP-seq
MIRT1308341	hsa-miR-4708-5p	CLIP-seq
MIRT1308342	hsa-miR-4722-3p	CLIP-seq
MIRT1308344	hsa-miR-4770	CLIP-seq
MIRT2091455	hsa-miR-4772-3p	CLIP-seq
MIRT1308346	hsa-miR-544b	CLIP-seq
MIRT2612094	hsa-miR-627	CLIP-seq
MIRT2316063	hsa-miR-874	CLIP-seq
MIRT2612095	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005739	Component	Mitochondrion	IDA	25604853
GO:0006412	Process	Translation	IEA
GO:0070131	Process	Positive regulation of mitochondrial translation	IBA	21873635
GO:0070131	Process	Positive regulation of mitochondrial translation	IDA	25604853

Other IDs

• MIM: 614917
• HGNC: 21176
• e!Ensembl: ENSG00000155906

Protein

• UniProt ID: Q9NWS8
• Protein name: Required for meiotic nuclear division protein 1 homolog
• Protein function: Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02582	DUF155	226 → 403	Uncharacterised ACR, YagE family COG1723	Family

• Sequence:

  MPATLLRAVARSHHILSKAHQCRRIGHLMLKPLKEFENTTCSTLTIRQSLDLFLPDKTAS
  GLNKSQILEMNQKKSDTSMLSPLNAARCQDEKAHLPTMKSFGTHRRVTHKPNLLGSKWFI
  KILKRHFSSVSTETFVPKQDFPQVKRPLKASRTRQPSRTNLPVLSVNEDLMHCTAFATAD
  EYHLGNLSQDLASHGYVEVTSLPRDAANILVMGVENSAKEGDPGTIFFFREGAAVFWNVK
  DKTMKHVMKVLEKHEIQPYEIALVHWENEELNYIKIEGQSKLHRGEIKLNSELDLDDAIL
  EKFAFSNALCLSVKLAIWEASLDKFIESIQSIPEALKAGKKVKLSHEEVMQKIGELFALR
  HRINLSSDFLITPDFYWDRENLEGLYDKTCQFLSIGRRVKVMNEKLQHCMELTDLMRNHL
  NEKRALRLEWMIVILITIEVMFELGRVFF

• Sequence length: 449

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	29915430
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29915430
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, Combined oxidative phosphorylation defect type 11	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774	23022099, 23022098, 25604853, 26238252, 27604308, 25058219
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
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	29915430
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease term	Disease name	Evidence	References	Source
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia			ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar
Mitochondrial Diseases	mitochondrial disease			GenCC
Uterine Fibroids	Uterine Fibroids			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	25604853
Brain Diseases	Associate	23022098
Breast Neoplasms	Stimulate	21552322
Cardiomyopathy Dilated	Associate	27350610
Combined Oxidative Phosphorylation Deficiency 1	Associate	32911714
Deafness	Associate	25058219, 25604853, 27350610
Gonadal dysgenesis XX type deafness	Associate	32911714
Hearing Loss	Associate	25604853, 32911714
Hypoaldosteronism	Associate	37450011
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	25058219, 32911714
Kidney Failure Chronic	Associate	27350610
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	21540461, 31237926
Malocclusion Angle Class II	Associate	31568715, 32911714
Mitochondrial Complex II Deficiency	Associate	31568715
Mitochondrial Diseases	Associate	23022098, 27350610, 31568715, 37450011
Multiple System Atrophy	Associate	32911714
Muscular Diseases	Associate	25604853
Muscular dystrophy congenital with central nervous system involvement	Associate	27350610
Primary Dysautonomias	Associate	25604853
Renal Insufficiency	Associate	25604853, 27350610
Renal Insufficiency Chronic	Associate	27350610
Thrombosis	Associate	37450011
Tunglang Savage Bellman syndrome	Associate	37450011