NCAPH (non-SMC condensin I complex subunit H)

Gene

• Entrez ID: 23397
• Gene name: Non-SMC condensin I complex subunit H
• Gene symbol: NCAPH
• Synonyms (NCBI Gene): BRRN1, CAP-H, CAPH, MCPH23, NCAPH1
• Disease Acronyms (UniProt): MCPH23
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553446603	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016393	hsa-miR-193b-3p	Microarray	20304954
MIRT024329	hsa-miR-215-5p	Microarray	19074876
MIRT026338	hsa-miR-192-5p	Microarray	19074876
MIRT049342	hsa-miR-92a-3p	CLASH	23622248
MIRT041751	hsa-miR-484	CLASH	23622248
MIRT041751	hsa-miR-484	CLASH	23622248
MIRT041751	hsa-miR-484	CLASH	23622248
MIRT573284	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT573283	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT573282	hsa-miR-3126-5p	PAR-CLIP	20371350
MIRT573281	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT573279	hsa-miR-4419a	PAR-CLIP	20371350
MIRT573280	hsa-miR-4510	PAR-CLIP	20371350
MIRT573278	hsa-miR-6127	PAR-CLIP	20371350
MIRT573277	hsa-miR-6129	PAR-CLIP	20371350
MIRT573276	hsa-miR-6130	PAR-CLIP	20371350
MIRT573275	hsa-miR-6133	PAR-CLIP	20371350
MIRT573274	hsa-miR-4434	PAR-CLIP	20371350
MIRT573273	hsa-miR-4516	PAR-CLIP	20371350
MIRT573272	hsa-miR-5703	PAR-CLIP	20371350
MIRT573270	hsa-miR-4266	PAR-CLIP	20371350
MIRT573271	hsa-miR-6834-5p	PAR-CLIP	20371350
MIRT573284	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT573283	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT573282	hsa-miR-3126-5p	PAR-CLIP	20371350
MIRT573281	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT573279	hsa-miR-4419a	PAR-CLIP	20371350
MIRT573280	hsa-miR-4510	PAR-CLIP	20371350
MIRT573278	hsa-miR-6127	PAR-CLIP	20371350
MIRT573277	hsa-miR-6129	PAR-CLIP	20371350
MIRT573276	hsa-miR-6130	PAR-CLIP	20371350
MIRT573275	hsa-miR-6133	PAR-CLIP	20371350
MIRT573274	hsa-miR-4434	PAR-CLIP	20371350
MIRT573273	hsa-miR-4516	PAR-CLIP	20371350
MIRT573272	hsa-miR-5703	PAR-CLIP	20371350
MIRT573270	hsa-miR-4266	PAR-CLIP	20371350
MIRT573271	hsa-miR-6834-5p	PAR-CLIP	20371350
MIRT1175892	hsa-miR-1179	CLIP-seq
MIRT1175893	hsa-miR-1224-3p	CLIP-seq
MIRT1175894	hsa-miR-1237	CLIP-seq
MIRT1175895	hsa-miR-1246	CLIP-seq
MIRT1175896	hsa-miR-1252	CLIP-seq
MIRT1175897	hsa-miR-1260	CLIP-seq
MIRT1175898	hsa-miR-1260b	CLIP-seq
MIRT1175899	hsa-miR-1272	CLIP-seq
MIRT1175900	hsa-miR-1276	CLIP-seq
MIRT1175901	hsa-miR-1280	CLIP-seq
MIRT1175902	hsa-miR-1322	CLIP-seq
MIRT1175903	hsa-miR-298	CLIP-seq
MIRT1175904	hsa-miR-3065-5p	CLIP-seq
MIRT1175905	hsa-miR-31	CLIP-seq
MIRT1175906	hsa-miR-3125	CLIP-seq
MIRT1175907	hsa-miR-3154	CLIP-seq
MIRT1175908	hsa-miR-3171	CLIP-seq
MIRT1175909	hsa-miR-3177-5p	CLIP-seq
MIRT1175910	hsa-miR-3614-3p	CLIP-seq
MIRT1175911	hsa-miR-3653	CLIP-seq
MIRT1175912	hsa-miR-3658	CLIP-seq
MIRT1175913	hsa-miR-3916	CLIP-seq
MIRT1175914	hsa-miR-3924	CLIP-seq
MIRT1175915	hsa-miR-3928	CLIP-seq
MIRT1175916	hsa-miR-4303	CLIP-seq
MIRT1175917	hsa-miR-4438	CLIP-seq
MIRT1175918	hsa-miR-4477a	CLIP-seq
MIRT1175919	hsa-miR-4682	CLIP-seq
MIRT1175920	hsa-miR-4729	CLIP-seq
MIRT1175921	hsa-miR-4733-5p	CLIP-seq
MIRT1175922	hsa-miR-4795-3p	CLIP-seq
MIRT1175923	hsa-miR-4802-3p	CLIP-seq
MIRT1175924	hsa-miR-490-5p	CLIP-seq
MIRT1175925	hsa-miR-495	CLIP-seq
MIRT1175926	hsa-miR-5095	CLIP-seq
MIRT1175927	hsa-miR-590-3p	CLIP-seq
MIRT1175928	hsa-miR-595	CLIP-seq
MIRT2050959	hsa-miR-1184	CLIP-seq
MIRT1175894	hsa-miR-1237	CLIP-seq
MIRT1175896	hsa-miR-1252	CLIP-seq
MIRT1175899	hsa-miR-1272	CLIP-seq
MIRT1175902	hsa-miR-1322	CLIP-seq
MIRT2050960	hsa-miR-1343	CLIP-seq
MIRT2050961	hsa-miR-1972	CLIP-seq
MIRT2050962	hsa-miR-3168	CLIP-seq
MIRT2050963	hsa-miR-371-5p	CLIP-seq
MIRT2050964	hsa-miR-380	CLIP-seq
MIRT2050965	hsa-miR-3934	CLIP-seq
MIRT2050966	hsa-miR-4265	CLIP-seq
MIRT2050967	hsa-miR-4277	CLIP-seq
MIRT2050968	hsa-miR-4296	CLIP-seq
MIRT1175916	hsa-miR-4303	CLIP-seq
MIRT2050969	hsa-miR-4322	CLIP-seq
MIRT2050970	hsa-miR-4417	CLIP-seq
MIRT2050971	hsa-miR-4418	CLIP-seq
MIRT1175917	hsa-miR-4438	CLIP-seq
MIRT2050972	hsa-miR-4641	CLIP-seq
MIRT2050973	hsa-miR-4650-5p	CLIP-seq
MIRT1175919	hsa-miR-4682	CLIP-seq
MIRT2050974	hsa-miR-4757-5p	CLIP-seq
MIRT2050975	hsa-miR-509-3-5p	CLIP-seq
MIRT1175926	hsa-miR-5095	CLIP-seq
MIRT2050976	hsa-miR-509-5p	CLIP-seq
MIRT2050977	hsa-miR-552	CLIP-seq
MIRT2050959	hsa-miR-1184	CLIP-seq
MIRT2050960	hsa-miR-1343	CLIP-seq
MIRT2280035	hsa-miR-140-3p	CLIP-seq
MIRT2280036	hsa-miR-181a	CLIP-seq
MIRT2280037	hsa-miR-181b	CLIP-seq
MIRT2280038	hsa-miR-181c	CLIP-seq
MIRT2280039	hsa-miR-181d	CLIP-seq
MIRT2280040	hsa-miR-3127-5p	CLIP-seq
MIRT2050963	hsa-miR-371-5p	CLIP-seq
MIRT2280041	hsa-miR-378g	CLIP-seq
MIRT2280042	hsa-miR-3918	CLIP-seq
MIRT2280043	hsa-miR-4262	CLIP-seq
MIRT2050971	hsa-miR-4418	CLIP-seq
MIRT2280044	hsa-miR-4437	CLIP-seq
MIRT2280045	hsa-miR-4674	CLIP-seq
MIRT2050975	hsa-miR-509-3-5p	CLIP-seq
MIRT2050976	hsa-miR-509-5p	CLIP-seq
MIRT2280046	hsa-miR-543	CLIP-seq
MIRT2280047	hsa-miR-648	CLIP-seq
MIRT2050959	hsa-miR-1184	CLIP-seq
MIRT2050963	hsa-miR-371-5p	CLIP-seq
MIRT2050971	hsa-miR-4418	CLIP-seq
MIRT2050975	hsa-miR-509-3-5p	CLIP-seq
MIRT2050976	hsa-miR-509-5p	CLIP-seq
MIRT2465693	hsa-miR-2964a-5p	CLIP-seq
MIRT2465694	hsa-miR-3679-3p	CLIP-seq
MIRT2465695	hsa-miR-4450	CLIP-seq
MIRT2465696	hsa-miR-4463	CLIP-seq
MIRT2465697	hsa-miR-4667-5p	CLIP-seq
MIRT2465698	hsa-miR-4700-5p	CLIP-seq
MIRT2465699	hsa-miR-4740-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000796	Component	Condensin complex	IDA	11136719
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17268547, 21633354, 21730191, 24981860, 26496610
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0007076	Process	Mitotic chromosome condensation	IBA	21873635
GO:0007076	Process	Mitotic chromosome condensation	IDA	11136719, 11694586
GO:0007076	Process	Mitotic chromosome condensation	IMP	27737959
GO:0016020	Component	Membrane	HDA	19946888
GO:0044547	Function	DNA topoisomerase binding	IBA	21873635
GO:0051301	Process	Cell division	IEA
GO:0072587	Function	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activator activity	IBA	21873635
GO:2000373	Process	Positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity	IEA

Other IDs

• MIM: 602332
• HGNC: 1112
• e!Ensembl: ENSG00000121152

Protein

• UniProt ID: Q15003
• Protein name: Condensin complex subunit 2 (Barren homolog protein 1) (Chromosome-associated protein H) (hCAP-H) (Non-SMC condensin I complex subunit H) (XCAP-H homolog)
• Protein function: Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type
• PDB: 6IGX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05786	Cnd2	31 → 739	Condensin complex subunit 2	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed at low level. Expressed in proliferating cells. {ECO:0000269|PubMed:11694586}.
• Sequence:

  MGPPGPALPATMNNSSSETRGHPHSASSPSERVFPMPLPRKAPLNIPGTPVLEDFPQNDD
  EKERLQRRRSRVFDLQFSTDSPRLLASPSSRSIDISATIPKFTNTQITEHYSTCIKLSTE
  NKITTKNAFGLHLIDFMSEILKQKDTEPTNFKVAAGTLDASTKIYAVRVDAVHADVYRVL
  GGLGKDAPSLEEVEGHVADGSATEMGTTKKAVKPKKKHLHRTIEQNINNLNVSEADRKCE
  IDPMFQKTAASFDECSTAGVFLSTLHCQDYRSELLFPSDVQTLSTGEPLELPELGCVEMT
  DLKAPLQQCAEDRQICPSLAGFQFTQWDSETHNESVSALVDKFKKNDQVFDINAEVDESD
  CGDFPDGSLGDDFDANDEPDHTAVGDHEEFRSWKEPCQVQSCQEEMISLGDGDIRTMCPL
  LSMKPGEYSYFSPRTMSMWAGPDHWRFRPRRKQDAPSQSENKKKSTKKDFEIDFEDDIDF
  DVYFRKTKAATILTKSTLENQNWRATTLPTDFNYNVDTLVQLHLKPGTRLLKMAQGHRVE
  TEHYEEIEDYDYNNPNDTSNFCPGLQAADSDDEDLDDLFVGPVGNSDLSPYPCHPPKTAQ
  QNGDTPEAQGLDITTYGESNLVAEPQKVNKIEIHYAKTAKKMDMKKLKQSMWSLLTALSG
  KEADAEANHREAGKEAALAEVADEKMLSGLTKDLQRSLPPVMAQNLSIPLAFACLLHLAN
  EKNLKLEGTEDLSDVLVRQGD

• Sequence length: 741

Pathways

Reactome:

Condensation of Prometaphase Chromosomes

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Mental retardation	Moderate intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly, MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE	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	27737959

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	22952714
Adenocarcinoma of Lung	Stimulate	35688915
Breast Neoplasms	Associate	34768935, 36650758
Carcinogenesis	Associate	28824723, 29693178
Carcinoma Non Small Cell Lung	Associate	32945371
Chromosome Aberrations	Associate	31784646
Colorectal Neoplasms	Associate	28300828
Glioma	Associate	35676807
Melanoma	Associate	17611626
Neoplasms	Associate	28300828, 32945371, 35688915, 36650758, 37833711
Ovarian Neoplasms	Associate	29693178, 34399777
Pancreatic Neoplasms	Associate	31784646
Precancerous Conditions	Associate	36650758
Squamous Cell Carcinoma of Head and Neck	Associate	36650758
Thymoma	Stimulate	36650758