CDK10 (cyclin dependent kinase 10)

Gene

• Entrez ID: 8558
• Gene name: Cyclin dependent kinase 10
• Gene symbol: CDK10
• Synonyms (NCBI Gene): ALSAS, PISSLRE
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs767176610	G>A	Pathogenic	Splice acceptor variant
rs771066826	G>A,T	Pathogenic	Splice donor variant
rs772157816	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs1060499745	C>G,T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, coding sequence variant, missense variant
rs1555516716	G>-	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1597864006	CTGGCCC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003168	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT004208	hsa-miR-197-3p	Microarray	16822819
MIRT880201	hsa-miR-1273g	CLIP-seq
MIRT880202	hsa-miR-1285	CLIP-seq
MIRT880203	hsa-miR-1324	CLIP-seq
MIRT880204	hsa-miR-151-5p	CLIP-seq
MIRT880205	hsa-miR-151b	CLIP-seq
MIRT880206	hsa-miR-1915	CLIP-seq
MIRT880207	hsa-miR-1972	CLIP-seq
MIRT880208	hsa-miR-1976	CLIP-seq
MIRT880209	hsa-miR-296-5p	CLIP-seq
MIRT880210	hsa-miR-3127-5p	CLIP-seq
MIRT880211	hsa-miR-3166	CLIP-seq
MIRT880212	hsa-miR-3182	CLIP-seq
MIRT880213	hsa-miR-3187-5p	CLIP-seq
MIRT880214	hsa-miR-378g	CLIP-seq
MIRT880215	hsa-miR-3918	CLIP-seq
MIRT880216	hsa-miR-4310	CLIP-seq
MIRT880217	hsa-miR-4314	CLIP-seq
MIRT880218	hsa-miR-4436b-3p	CLIP-seq
MIRT880219	hsa-miR-4474-3p	CLIP-seq
MIRT880220	hsa-miR-4474-5p	CLIP-seq
MIRT880221	hsa-miR-4486	CLIP-seq
MIRT880222	hsa-miR-4488	CLIP-seq
MIRT880223	hsa-miR-4519	CLIP-seq
MIRT880224	hsa-miR-4667-5p	CLIP-seq
MIRT880225	hsa-miR-4685-5p	CLIP-seq
MIRT880226	hsa-miR-4697-5p	CLIP-seq
MIRT880227	hsa-miR-4700-5p	CLIP-seq
MIRT880228	hsa-miR-4711-5p	CLIP-seq
MIRT880229	hsa-miR-4726-3p	CLIP-seq
MIRT880230	hsa-miR-4751	CLIP-seq
MIRT880231	hsa-miR-486-3p	CLIP-seq
MIRT880232	hsa-miR-493	CLIP-seq
MIRT880233	hsa-miR-612	CLIP-seq
MIRT880234	hsa-miR-637	CLIP-seq
MIRT1960783	hsa-miR-150	CLIP-seq
MIRT880206	hsa-miR-1915	CLIP-seq
MIRT1960784	hsa-miR-2355-3p	CLIP-seq
MIRT1960785	hsa-miR-3909	CLIP-seq
MIRT880228	hsa-miR-4711-5p	CLIP-seq
MIRT1960786	hsa-miR-483-3p	CLIP-seq
MIRT1960787	hsa-miR-676	CLIP-seq
MIRT2197443	hsa-miR-1301	CLIP-seq
MIRT880206	hsa-miR-1915	CLIP-seq
MIRT880207	hsa-miR-1972	CLIP-seq
MIRT880208	hsa-miR-1976	CLIP-seq
MIRT880220	hsa-miR-4474-5p	CLIP-seq
MIRT2197444	hsa-miR-4660	CLIP-seq
MIRT880225	hsa-miR-4685-5p	CLIP-seq
MIRT2197445	hsa-miR-4690-3p	CLIP-seq
MIRT880229	hsa-miR-4726-3p	CLIP-seq
MIRT2197446	hsa-miR-5047	CLIP-seq
MIRT2197447	hsa-miR-766	CLIP-seq
MIRT2385845	hsa-miR-1225-3p	CLIP-seq
MIRT880206	hsa-miR-1915	CLIP-seq
MIRT880207	hsa-miR-1972	CLIP-seq
MIRT2385846	hsa-miR-3192	CLIP-seq
MIRT2385847	hsa-miR-3943	CLIP-seq
MIRT2385848	hsa-miR-4300	CLIP-seq
MIRT880229	hsa-miR-4726-3p	CLIP-seq
MIRT2385849	hsa-miR-920	CLIP-seq
MIRT2500781	hsa-miR-1184	CLIP-seq
MIRT880202	hsa-miR-1285	CLIP-seq
MIRT2500782	hsa-miR-1288	CLIP-seq
MIRT880206	hsa-miR-1915	CLIP-seq
MIRT880207	hsa-miR-1972	CLIP-seq
MIRT2500783	hsa-miR-2277-3p	CLIP-seq
MIRT880209	hsa-miR-296-5p	CLIP-seq
MIRT2500784	hsa-miR-3130-3p	CLIP-seq
MIRT880212	hsa-miR-3182	CLIP-seq
MIRT880213	hsa-miR-3187-5p	CLIP-seq
MIRT2500785	hsa-miR-3199	CLIP-seq
MIRT880214	hsa-miR-378g	CLIP-seq
MIRT880217	hsa-miR-4314	CLIP-seq
MIRT880221	hsa-miR-4486	CLIP-seq
MIRT2500786	hsa-miR-4534	CLIP-seq
MIRT2500787	hsa-miR-4652-5p	CLIP-seq
MIRT2500788	hsa-miR-4691-3p	CLIP-seq
MIRT880229	hsa-miR-4726-3p	CLIP-seq
MIRT2500789	hsa-miR-4781-5p	CLIP-seq
MIRT2500790	hsa-miR-4786-5p	CLIP-seq
MIRT880232	hsa-miR-493	CLIP-seq
MIRT880233	hsa-miR-612	CLIP-seq
MIRT2500791	hsa-miR-769-5p	CLIP-seq
MIRT2500792	hsa-miR-888	CLIP-seq
MIRT880202	hsa-miR-1285	CLIP-seq
MIRT2500782	hsa-miR-1288	CLIP-seq
MIRT880206	hsa-miR-1915	CLIP-seq
MIRT880207	hsa-miR-1972	CLIP-seq
MIRT2500783	hsa-miR-2277-3p	CLIP-seq
MIRT880209	hsa-miR-296-5p	CLIP-seq
MIRT880212	hsa-miR-3182	CLIP-seq
MIRT880213	hsa-miR-3187-5p	CLIP-seq
MIRT2500785	hsa-miR-3199	CLIP-seq
MIRT880214	hsa-miR-378g	CLIP-seq
MIRT880217	hsa-miR-4314	CLIP-seq
MIRT880221	hsa-miR-4486	CLIP-seq
MIRT2500787	hsa-miR-4652-5p	CLIP-seq
MIRT880229	hsa-miR-4726-3p	CLIP-seq
MIRT2500789	hsa-miR-4781-5p	CLIP-seq
MIRT880232	hsa-miR-493	CLIP-seq
MIRT880233	hsa-miR-612	CLIP-seq
MIRT2500792	hsa-miR-888	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	27104747
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	18242510, 22158035, 22939624, 27104747
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	11006117
GO:0005737	Component	Cytoplasm	IEA
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0007089	Process	Traversing start control point of mitotic cell cycle	TAS	8208557
GO:0007346	Process	Regulation of mitotic cell cycle	IBA	21873635
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	8208557
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	27104747
GO:0030030	Process	Cell projection organization	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	27104747
GO:0036064	Component	Ciliary basal body	IDA	27104747
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:1902018	Process	Negative regulation of cilium assembly	IMP	27104747

Other IDs

• MIM: 603464
• HGNC: 1770
• e!Ensembl: ENSG00000185324

Protein

• UniProt ID: Q15131
• Protein name: Cyclin-dependent kinase 10 (EC 2.7.11.22) (Cell division protein kinase 10) (Serine/threonine-protein kinase PISSLRE)
• Protein function: Cyclin-dependent kinase that phosphorylates the transcription factor ETS2 (in vitro) and positively controls its proteasomal degradation (in cells) (PubMed:24218572). Involved in the regulation of actin cytoskeleton organization through the phos
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	39 → 323	Protein kinase domain	Domain

• Sequence:

  MAEPDLECEQIRLKCIRKEGFFTVPPEHRLGRCRSVKEFEKLNRIGEGTYGIVYRARDTQ
  TDEIVALKKVRMDKEKDGIPISSLREITLLLRLRHPNIVELKEVVVGNHLESIFLVMGYC
  EQDLASLLENMPTPFSEAQVKCIVLQVLRGLQYLHRNFIIHRDLKVSNLLMTDKGCVKTA
  DFGLARAYGVPVKPMTPKVVTLWYRAPELLLGTTTQTTSIDMWAVGCILAELLAHRPLLP
  GTSEIHQIDLIVQLLGTPSENIWPGFSKLPLVGQYSLRKQPYNNLKHKFPWLSEAGLRLL
  HFLFMYDPKKRATAGDCLESSYFKEKPLPCEPELMPTFPHHRNKRAAPATSEGQSKRCKP
  

• Sequence length: 360

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Al kaissi syndrome	AL KAISSI SYNDROME	rs767176610, rs1555516716, rs771066826, rs1597864006	28886341
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
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	24980573, 19578364, 28212542, 21926416, 21983787, 21706340
Mental retardation	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	28886341
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

Unknown
Disease term	Disease name	Evidence	References	Source
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes.	20512145	ClinVar, CBGDA
AL KAISSI SYNDROME	Al Kaissi syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Corpus Callosum	Associate	29130579
Al Gazali Syndrome	Associate	34369103
Alzheimer Disease	Stimulate	36988771
Biliary Tract Neoplasms	Associate	22209942
Breast Neoplasms	Associate	18242507, 18242510, 19846932, 26209438, 33686962
Capillary Malformation Arteriovenous Malformation	Associate	34369103
Carcinoma Basal Cell	Associate	33248005
Carcinoma Non Small Cell Lung	Associate	40007122
Ciliopathies	Associate	29130579
Colorectal Neoplasms	Associate	32345988
Deafness	Associate	29130579
Developmental Disabilities	Associate	34369103
Embolic Stroke	Associate	37248226
Growth Disorders	Associate	28744006
Hypertensive Retinopathy	Associate	29130579
Lung Neoplasms	Associate	12878869
Lymphoma Follicular	Associate	11756183
Melanoma	Associate	19578364, 23393597, 33248005
Neoplasms	Inhibit	18242510, 22209942, 26209438
Pigmentation Disorders	Associate	33248005
Squamous Cell Carcinoma of Head and Neck	Associate	26683928
Tertiary Lymphoid Structures	Associate	32345988
Toe Syndactyly Telecanthus and Anogenital and Renal Malformations	Associate	27104747, 29130579, 34369103