CDK5RAP2 (CDK5 regulatory subunit associated protein 2)

Gene

• Entrez ID: 55755
• Gene name: CDK5 regulatory subunit associated protein 2
• Gene symbol: CDK5RAP2
• Synonyms (NCBI Gene): C48, Cep215, MCPH3
• Disease Acronyms (UniProt): MCPH3
• Chromosome: 9
• Chromosome location: 9q33.2
• Summary: This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61756286	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Non coding transcript variant, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs61758368	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs143341041	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs145272328	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs199422126	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs373278668	G>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs374351172	C>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs387906274	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs398122971	C>A	Pathogenic	Stop gained, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs587783387	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587783390	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs587783392	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs587783393	TGCCT>-	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs747831095	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs752092703	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs754282058	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs772072816	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs786205660	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs797045441	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs869025200	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1554728351	->AC	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554730137	GA>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554755313	T>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564338190	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1588472215	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant
rs1588634016	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045392	hsa-miR-149-5p	CLASH	23622248
MIRT042896	hsa-miR-324-3p	CLASH	23622248
MIRT035984	hsa-miR-1301-3p	CLASH	23622248
MIRT881315	hsa-miR-1911	CLIP-seq
MIRT881316	hsa-miR-3064-5p	CLIP-seq
MIRT881317	hsa-miR-3919	CLIP-seq
MIRT881318	hsa-miR-3942-3p	CLIP-seq
MIRT881319	hsa-miR-4271	CLIP-seq
MIRT881320	hsa-miR-4318	CLIP-seq
MIRT881321	hsa-miR-4685-5p	CLIP-seq
MIRT881322	hsa-miR-4725-3p	CLIP-seq
MIRT881323	hsa-miR-4729	CLIP-seq
MIRT881324	hsa-miR-4756-3p	CLIP-seq
MIRT881325	hsa-miR-4786-3p	CLIP-seq
MIRT881326	hsa-miR-513c	CLIP-seq
MIRT881327	hsa-miR-514b-5p	CLIP-seq
MIRT881328	hsa-miR-548g	CLIP-seq
MIRT881329	hsa-miR-549	CLIP-seq
MIRT881330	hsa-miR-570	CLIP-seq
MIRT881331	hsa-miR-580	CLIP-seq
MIRT881332	hsa-miR-7	CLIP-seq
MIRT881333	hsa-miR-892b	CLIP-seq
MIRT1961029	hsa-miR-1324	CLIP-seq
MIRT1961030	hsa-miR-4659a-3p	CLIP-seq
MIRT1961031	hsa-miR-4659b-3p	CLIP-seq
MIRT881315	hsa-miR-1911	CLIP-seq
MIRT2197788	hsa-miR-1913	CLIP-seq
MIRT881316	hsa-miR-3064-5p	CLIP-seq
MIRT881319	hsa-miR-4271	CLIP-seq
MIRT881321	hsa-miR-4685-5p	CLIP-seq
MIRT881322	hsa-miR-4725-3p	CLIP-seq
MIRT2197789	hsa-miR-4749-3p	CLIP-seq
MIRT2197790	hsa-miR-4763-5p	CLIP-seq
MIRT2197791	hsa-miR-4766-5p	CLIP-seq
MIRT881325	hsa-miR-4786-3p	CLIP-seq
MIRT2197792	hsa-miR-524-3p	CLIP-seq
MIRT2197793	hsa-miR-525-3p	CLIP-seq
MIRT881332	hsa-miR-7	CLIP-seq
MIRT881333	hsa-miR-892b	CLIP-seq
MIRT2446717	hsa-miR-3121-3p	CLIP-seq
MIRT2446718	hsa-miR-3148	CLIP-seq
MIRT2446719	hsa-miR-3179	CLIP-seq
MIRT2446720	hsa-miR-4668-5p	CLIP-seq
MIRT2446717	hsa-miR-3121-3p	CLIP-seq
MIRT2446718	hsa-miR-3148	CLIP-seq
MIRT2446719	hsa-miR-3179	CLIP-seq
MIRT2446720	hsa-miR-4668-5p	CLIP-seq
MIRT1961029	hsa-miR-1324	CLIP-seq
MIRT2446717	hsa-miR-3121-3p	CLIP-seq
MIRT2501070	hsa-miR-3121-5p	CLIP-seq
MIRT2446718	hsa-miR-3148	CLIP-seq
MIRT2446719	hsa-miR-3179	CLIP-seq
MIRT2501071	hsa-miR-3187-3p	CLIP-seq
MIRT2501072	hsa-miR-3914	CLIP-seq
MIRT881317	hsa-miR-3919	CLIP-seq
MIRT881318	hsa-miR-3942-3p	CLIP-seq
MIRT2501073	hsa-miR-4435	CLIP-seq
MIRT1961030	hsa-miR-4659a-3p	CLIP-seq
MIRT1961031	hsa-miR-4659b-3p	CLIP-seq
MIRT2446720	hsa-miR-4668-5p	CLIP-seq
MIRT2501074	hsa-miR-4701-5p	CLIP-seq
MIRT881324	hsa-miR-4756-3p	CLIP-seq
MIRT881326	hsa-miR-513c	CLIP-seq
MIRT881327	hsa-miR-514b-5p	CLIP-seq
MIRT2501075	hsa-miR-548s	CLIP-seq
MIRT881329	hsa-miR-549	CLIP-seq
MIRT881330	hsa-miR-570	CLIP-seq
MIRT2501076	hsa-miR-588	CLIP-seq
MIRT2446717	hsa-miR-3121-3p	CLIP-seq
MIRT2446718	hsa-miR-3148	CLIP-seq
MIRT2446719	hsa-miR-3179	CLIP-seq
MIRT881317	hsa-miR-3919	CLIP-seq
MIRT881318	hsa-miR-3942-3p	CLIP-seq
MIRT2446720	hsa-miR-4668-5p	CLIP-seq
MIRT881324	hsa-miR-4756-3p	CLIP-seq
MIRT881326	hsa-miR-513c	CLIP-seq
MIRT881327	hsa-miR-514b-5p	CLIP-seq
MIRT881329	hsa-miR-549	CLIP-seq
MIRT881330	hsa-miR-570	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	TAS
GO:0000132	Process	Establishment of mitotic spindle orientation	IBA	21873635
GO:0000132	Process	Establishment of mitotic spindle orientation	ISS
GO:0000226	Process	Microtubule cytoskeleton organization	IDA	17959831
GO:0000242	Component	Pericentriolar material	IBA	21873635
GO:0000242	Component	Pericentriolar material	IDA	17959831
GO:0000922	Component	Spindle pole	IDA	17959831, 19282672
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	19282672
GO:0001578	Process	Microtubule bundle formation	IBA	21873635
GO:0001578	Process	Microtubule bundle formation	IDA	19553473
GO:0005515	Function	Protein binding	IPI	17959831, 19282672, 19553473, 20466722, 25503564, 26192437, 26297806, 26485573, 29162697
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005516	Function	Calmodulin binding	IDA	20466722
GO:0005737	Component	Cytoplasm	IDA	17959831, 19282672, 19553473
GO:0005794	Component	Golgi apparatus	IDA	20466722
GO:0005813	Component	Centrosome	IDA	14654843, 17959831, 18042621, 19282672, 19543530, 19553473, 20466722, 21399614, 25657325, 26485573, 29162697, 31974111
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	NAS	10721722
GO:0005874	Component	Microtubule	IDA	19553473
GO:0007059	Process	Chromosome segregation	IBA	21873635
GO:0007059	Process	Chromosome segregation	IMP	19282672
GO:0007098	Process	Centrosome cycle	IMP	18042621
GO:0007099	Process	Centriole replication	IBA	21873635
GO:0007099	Process	Centriole replication	IMP	26297806
GO:0007420	Process	Brain development	ISS
GO:0007420	Process	Brain development	NAS	10915792
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0008017	Function	Microtubule binding	IDA	14654843
GO:0008274	Component	Gamma-tubulin ring complex	IBA	21873635
GO:0008274	Component	Gamma-tubulin ring complex	IDA	29162697
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	TAS
GO:0015631	Function	Tubulin binding	IPI	17959831
GO:0019901	Function	Protein kinase binding	IBA	21873635
GO:0019901	Function	Protein kinase binding	IPI	10721722
GO:0022008	Process	Neurogenesis	ISS
GO:0030054	Component	Cell junction	IDA
GO:0031023	Process	Microtubule organizing center organization	IMP	26485573
GO:0031116	Process	Positive regulation of microtubule polymerization	IBA	21873635
GO:0031116	Process	Positive regulation of microtubule polymerization	IMP	29162697
GO:0035371	Component	Microtubule plus-end	IBA	21873635
GO:0035371	Component	Microtubule plus-end	IDA	26485573
GO:0043015	Function	Gamma-tubulin binding	IBA	21873635
GO:0043015	Function	Gamma-tubulin binding	IDA	29162697
GO:0045664	Process	Regulation of neuron differentiation	NAS	10721722
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	19282672
GO:0046600	Process	Negative regulation of centriole replication	IBA	21873635
GO:0046600	Process	Negative regulation of centriole replication	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IBA	21873635
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17959831
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0090266	Process	Regulation of mitotic cell cycle spindle assembly checkpoint	IBA	21873635
GO:0090266	Process	Regulation of mitotic cell cycle spindle assembly checkpoint	IDA	19282672
GO:0097431	Component	Mitotic spindle pole	IBA	21873635
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS

Other IDs

• MIM: 608201
• HGNC: 18672
• e!Ensembl: ENSG00000136861

Protein

• UniProt ID: Q96SN8
• Protein name: CDK5 regulatory subunit-associated protein 2 (CDK5 activator-binding protein C48) (Centrosome-associated protein 215)
• Protein function: Potential regulator of CDK5 activity via its interaction with CDK5R1 (PubMed:15164053). Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orient
• PDB: 6X0V, 8RX1, 9G40, 9H9P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07989	Cnn_1N	59 → 131	Centrosomin N-terminal motif 1	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:10721722}.
• Sequence:

  MMDLVLEEDVTVPGTLSGCSGLVPSVPDDLDGINPNAGLGNGLLPNVSEETVSPTRARNM
  KDFENQITELKKENFNLKLRIYFLEERMQQEFHGPTEHIYKTNIELKVEVESLKRELQER
  EQLLIKASKAVESLAEAGGSEIQRVKEDARKKVQQVEDLLTKRILLLEKDVTAAQAELEK
  AFAGTETEKALRLRLESKLSEMKKMHEGDLAMALVLDEKDRLIEELKLSLKSKEALIQCL
  KEEKSQMACPDENVSSGELRGLCAAPREEKERETEAAQMEHQKERNSFEERIQALEEDLR
  EKEREIATEKKNSLKRDKAIQGLTMALKSKEKKVEELNSEIEKLSAAFAKAREALQKAQT
  QEFQGSEDYETALSGKEALSAALRSQNLTKSTENHRLRRSIKKITQELSDLQQERERLEK
  DLEEAHREKSKGDCTIRDLRNEVEKLRNEVNEREKAMENRYKSLLSESNKKLHNQEQVIK
  HLTESTNQKDVLLQKFNEKDLEVIQQNCYLMAAEDLELRSEGLITEKCSSQQPPGSKTIF
  SKEKKQSSDYEELIQVLKKEQDIYTHLVKSLQESDSINNLQAELNKIFALRKQLEQDVLS
  YQNLRKTLEEQISEIRRREEESFSLYSDQTSYLSICLEENNRFQVEHFSQEELKKKVSDL
  IQLVKELYTDNQHLKKTIFDLSCMGFQGNGFPDRLASTEQTELLASKEDEDTIKIGEDDE
  INFLSDQHLQQSNEIMKDLSKGGCKNGYLRHTESKISDCDGAHAPGCLEEGAFINLLAPL
  FNEKATLLLESRPDLLKVVRELLLGQLFLTEQEVSGEHLDGKTEKTPKQKGELVHFVQTN
  SFSKPHDELKLSCEAQLVKAGEVPKVGLKDASVQTVATEGDLLRFKHEATREAWEEKPIN
  TALSAEHRPENLHGVPGWQAALLSLPGITNREAKKSRLPILIKPSRSLGNMYRLPATQEV
  VTQLQSQILELQGELKEFKTCNKQLHQKLILAEAVMEGRPTPDKTLLNAQPPVGAAYQDS
  PGEQKGIKTTSSVWRDKEMDSDQQRSYEIDSEICPPDDLASLPSCKENPEDVLSPTSVAT
  YLSSKSQPSAKVSVMGTDQSESINTSNETEYLKQKIHDLETELEGYQNFIFQLQKHSQCS
  EAIITVLCGTEGAQDGLSKPKNGSDGEEMTFSSLHQVRYVKHVKILGPLAPEMIDSRVLE
  NLKQQLEEQEYKLQKEQNLNMQLFSEIHNLQNKFRDLSPPRYDSLVQSQARELSLQRQQI
  KDGHGICVISRQHMNTMIKAFEELLQASDVDYCVAEGFQEQLNQCAELLEKLEKLFLNGK
  SVGVEMNTQNELMERIEEDNLTYQHLLPESPEPSASHALSDYETSEKSFFSRDQKQDNET
  EKTSVMVNSFSQDLLMEHIQEIRTLRKRLEESIKTNEKLRKQLERQGSEFVQGSTSIFAS
  GSELHSSLTSEIHFLRKQNQALNAMLIKGSRDKQKENDKLRESLSRKTVSLEHLQREYAS
  VKEENERLQKEGSEKERHNQQLIQEVRCSGQELSRVQEEVKLRQQLLSQNDKLLQSLRVE
  LKAYEKLDEEHRRLREASGEGWKGQDPFRDLHSLLMEIQALRLQLERSIETSSTLQSRLK
  EQLARGAEKAQEGALTLAVQAVSIPEVPLQPDKHDGDKYPMESDNSFDLFDSSQAVTPKS
  VSETPPLSGNDTDSLSCDSGSSATSTPCVSRLVTGHHLWASKNGRHVLGLIEDYEALLKQ
  ISQGQRLLAEMDIQTQEAPSSTSQELGTKGPHPAPLSKFVSSVSTAKLTLEEAYRRLKLL
  WRVSLPEDGQCPLHCEQIGEMKAEVTKLHKKLFEQEKKLQNTMKLLQLSKRQEKVIFDQL
  VVTHKILRKARGNLELRPGGAHPGTCSPSRPGS

• Sequence length: 1893

Pathways

Reactome:

Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
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
Mental retardation	Severe intellectual disability, 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, Primary Autosomal Recessive, 3, Autosomal Recessive Primary Microcephaly, Primary 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	28778786, 15793586, 27761245
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	24782177
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adrenocortical Carcinoma	Associate	36793283
Agenesis of Corpus Callosum	Associate	23587236, 26197979
Alzheimer Disease	Associate	29360470
Autosomal Recessive Primary Microcephaly	Associate	10677332, 17764569, 17959831, 19282672, 22887808, 23587236, 26197979, 26297806, 28004182, 32677750
Azoospermia	Associate	38008501
Cockayne Syndrome	Associate	31980658
Cognition Disorders	Associate	29360470
Colonic Neoplasms	Associate	38143740
Deafness	Associate	22887808
Ectodermal Dysplasia	Associate	26197979
Hearing Loss Sensorineural	Associate	22887808
Infertility Male	Associate	38008501
Lymphatic Metastasis	Associate	36774351
Microcephaly	Associate	17764569, 23587236, 26297806, 26485573, 28004182, 32677750, 35058575
Microcephaly Primary Autosomal Recessive 3	Associate	28004182
Neoplasms	Associate	19282672
Neoplasms Squamous Cell	Associate	36774351
Pathological Conditions Anatomical	Associate	22887808
Pre Eclampsia	Associate	35860693
Prostatic Hyperplasia	Associate	39694406
Prostatic Neoplasms	Associate	39694406
Squamous Cell Carcinoma of Head and Neck	Associate	36774351