Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	153241
Gene name Gene Name - the full gene name approved by the HGNC.	Centrosomal protein 120
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CEP120
Synonyms (NCBI Gene) Gene synonyms aliases	CCDC100, JBTS31, SRTD13
Disease Acronyms (UniProt) Disease acronyms from UniProt database	JBTS31, SRTD13
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q23.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in ne

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114280473	G>A	Pathogenic, benign	Coding sequence variant, non coding transcript variant, missense variant
rs367600930	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs757499322	G>A,C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs759125480	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs775080726	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1131691279	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691280	C>A,G	Likely-pathogenic	Splice donor variant
rs1554098663	A>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs1554102026	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554103267	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, intron variant
rs1554104276	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant

Show/Hide all(253)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026036	hsa-miR-196a-5p	Sequencing	20371350
MIRT032139	hsa-let-7d-5p	Sequencing	20371350
MIRT050547	hsa-miR-20a-5p	CLASH	23622248
MIRT494306	hsa-miR-548aa	PAR-CLIP	23592263
MIRT494305	hsa-miR-548ap-3p	PAR-CLIP	23592263
MIRT494304	hsa-miR-548t-3p	PAR-CLIP	23592263
MIRT494303	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT494302	hsa-miR-548at-3p	PAR-CLIP	23592263
MIRT494301	hsa-miR-548ay-3p	PAR-CLIP	23592263
MIRT494300	hsa-miR-548a-5p	PAR-CLIP	23592263
MIRT494299	hsa-miR-548ab	PAR-CLIP	23592263
MIRT494298	hsa-miR-548ad-5p	PAR-CLIP	23592263
MIRT494297	hsa-miR-548ae-5p	PAR-CLIP	23592263
MIRT494296	hsa-miR-548ak	PAR-CLIP	23592263
MIRT494295	hsa-miR-548am-5p	PAR-CLIP	23592263
MIRT494294	hsa-miR-548ap-5p	PAR-CLIP	23592263
MIRT494293	hsa-miR-548aq-5p	PAR-CLIP	23592263
MIRT494292	hsa-miR-548ar-5p	PAR-CLIP	23592263
MIRT494291	hsa-miR-548as-5p	PAR-CLIP	23592263
MIRT494290	hsa-miR-548au-5p	PAR-CLIP	23592263
MIRT494289	hsa-miR-548ay-5p	PAR-CLIP	23592263
MIRT494288	hsa-miR-548b-5p	PAR-CLIP	23592263
MIRT494287	hsa-miR-548bb-5p	PAR-CLIP	23592263
MIRT494286	hsa-miR-548c-5p	PAR-CLIP	23592263
MIRT494285	hsa-miR-548d-5p	PAR-CLIP	23592263
MIRT494284	hsa-miR-548h-5p	PAR-CLIP	23592263
MIRT494283	hsa-miR-548i	PAR-CLIP	23592263
MIRT494282	hsa-miR-548j-5p	PAR-CLIP	23592263
MIRT494281	hsa-miR-548o-5p	PAR-CLIP	23592263
MIRT494280	hsa-miR-548w	PAR-CLIP	23592263
MIRT494279	hsa-miR-548y	PAR-CLIP	23592263
MIRT494278	hsa-miR-559	PAR-CLIP	23592263
MIRT494277	hsa-miR-548av-5p	PAR-CLIP	23592263
MIRT494276	hsa-miR-548k	PAR-CLIP	23592263
MIRT494275	hsa-miR-8054	PAR-CLIP	23592263
MIRT494274	hsa-miR-548l	PAR-CLIP	23592263
MIRT494273	hsa-miR-5692a	PAR-CLIP	23592263
MIRT494272	hsa-miR-3156-5p	PAR-CLIP	23592263
MIRT494271	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT494270	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT494269	hsa-miR-4302	PAR-CLIP	23592263
MIRT494268	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT494267	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT494266	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT494265	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT494264	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT032139	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT494263	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT494262	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT494261	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT494260	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT494258	hsa-miR-4458	PAR-CLIP	23592263
MIRT494259	hsa-miR-4500	PAR-CLIP	23592263
MIRT494257	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT494255	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT494256	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT494254	hsa-miR-8085	PAR-CLIP	23592263
MIRT494253	hsa-miR-4648	PAR-CLIP	23592263
MIRT494252	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT494251	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT494250	hsa-miR-4654	PAR-CLIP	23592263
MIRT494249	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT494248	hsa-miR-3671	PAR-CLIP	23592263
MIRT494247	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT494246	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT494245	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT494306	hsa-miR-548aa	PAR-CLIP	23592263
MIRT494305	hsa-miR-548ap-3p	PAR-CLIP	23592263
MIRT494304	hsa-miR-548t-3p	PAR-CLIP	23592263
MIRT494303	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT494302	hsa-miR-548at-3p	PAR-CLIP	23592263
MIRT494301	hsa-miR-548ay-3p	PAR-CLIP	23592263
MIRT494300	hsa-miR-548a-5p	PAR-CLIP	23592263
MIRT494299	hsa-miR-548ab	PAR-CLIP	23592263
MIRT494298	hsa-miR-548ad-5p	PAR-CLIP	23592263
MIRT494297	hsa-miR-548ae-5p	PAR-CLIP	23592263
MIRT494296	hsa-miR-548ak	PAR-CLIP	23592263
MIRT494295	hsa-miR-548am-5p	PAR-CLIP	23592263
MIRT494294	hsa-miR-548ap-5p	PAR-CLIP	23592263
MIRT494293	hsa-miR-548aq-5p	PAR-CLIP	23592263
MIRT494292	hsa-miR-548ar-5p	PAR-CLIP	23592263
MIRT494291	hsa-miR-548as-5p	PAR-CLIP	23592263
MIRT494290	hsa-miR-548au-5p	PAR-CLIP	23592263
MIRT494289	hsa-miR-548ay-5p	PAR-CLIP	23592263
MIRT494288	hsa-miR-548b-5p	PAR-CLIP	23592263
MIRT494287	hsa-miR-548bb-5p	PAR-CLIP	23592263
MIRT494286	hsa-miR-548c-5p	PAR-CLIP	23592263
MIRT494285	hsa-miR-548d-5p	PAR-CLIP	23592263
MIRT494284	hsa-miR-548h-5p	PAR-CLIP	23592263
MIRT494283	hsa-miR-548i	PAR-CLIP	23592263
MIRT494282	hsa-miR-548j-5p	PAR-CLIP	23592263
MIRT494281	hsa-miR-548o-5p	PAR-CLIP	23592263
MIRT494280	hsa-miR-548w	PAR-CLIP	23592263
MIRT494279	hsa-miR-548y	PAR-CLIP	23592263
MIRT494278	hsa-miR-559	PAR-CLIP	23592263
MIRT494277	hsa-miR-548av-5p	PAR-CLIP	23592263
MIRT494276	hsa-miR-548k	PAR-CLIP	23592263
MIRT494275	hsa-miR-8054	PAR-CLIP	23592263
MIRT494274	hsa-miR-548l	PAR-CLIP	23592263
MIRT494273	hsa-miR-5692a	PAR-CLIP	23592263
MIRT494272	hsa-miR-3156-5p	PAR-CLIP	23592263
MIRT494271	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT494270	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT494269	hsa-miR-4302	PAR-CLIP	23592263
MIRT494268	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT494267	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT494266	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT494265	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT494264	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT032139	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT494263	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT494262	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT494261	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT494260	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT494258	hsa-miR-4458	PAR-CLIP	23592263
MIRT494259	hsa-miR-4500	PAR-CLIP	23592263
MIRT494257	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT494255	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT494256	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT494254	hsa-miR-8085	PAR-CLIP	23592263
MIRT494253	hsa-miR-4648	PAR-CLIP	23592263
MIRT494252	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT494251	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT494250	hsa-miR-4654	PAR-CLIP	23592263
MIRT494249	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT494248	hsa-miR-3671	PAR-CLIP	23592263
MIRT494247	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT494246	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT494245	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT885567	hsa-let-7a	CLIP-seq
MIRT885568	hsa-let-7b	CLIP-seq
MIRT885569	hsa-let-7c	CLIP-seq
MIRT885570	hsa-let-7d	CLIP-seq
MIRT885571	hsa-let-7e	CLIP-seq
MIRT885572	hsa-let-7f	CLIP-seq
MIRT885573	hsa-let-7g	CLIP-seq
MIRT885574	hsa-let-7i	CLIP-seq
MIRT885575	hsa-miR-105	CLIP-seq
MIRT885576	hsa-miR-106a	CLIP-seq
MIRT885577	hsa-miR-106b	CLIP-seq
MIRT885578	hsa-miR-1276	CLIP-seq
MIRT885579	hsa-miR-130a	CLIP-seq
MIRT885580	hsa-miR-130b	CLIP-seq
MIRT885581	hsa-miR-1324	CLIP-seq
MIRT885582	hsa-miR-17	CLIP-seq
MIRT885583	hsa-miR-181a	CLIP-seq
MIRT885584	hsa-miR-181b	CLIP-seq
MIRT885585	hsa-miR-181c	CLIP-seq
MIRT885586	hsa-miR-181d	CLIP-seq
MIRT885587	hsa-miR-2052	CLIP-seq
MIRT885588	hsa-miR-20a	CLIP-seq
MIRT885589	hsa-miR-20b	CLIP-seq
MIRT885590	hsa-miR-217	CLIP-seq
MIRT885591	hsa-miR-24	CLIP-seq
MIRT885592	hsa-miR-301a	CLIP-seq
MIRT885593	hsa-miR-301b	CLIP-seq
MIRT885594	hsa-miR-3065-5p	CLIP-seq
MIRT885595	hsa-miR-3134	CLIP-seq
MIRT885596	hsa-miR-320a	CLIP-seq
MIRT885597	hsa-miR-320b	CLIP-seq
MIRT885598	hsa-miR-320c	CLIP-seq
MIRT885599	hsa-miR-320d	CLIP-seq
MIRT885600	hsa-miR-338-5p	CLIP-seq
MIRT885601	hsa-miR-3609	CLIP-seq
MIRT885602	hsa-miR-3653	CLIP-seq
MIRT885603	hsa-miR-3658	CLIP-seq
MIRT885604	hsa-miR-3664-5p	CLIP-seq
MIRT885605	hsa-miR-3666	CLIP-seq
MIRT885606	hsa-miR-410	CLIP-seq
MIRT885607	hsa-miR-4262	CLIP-seq
MIRT885608	hsa-miR-4279	CLIP-seq
MIRT885609	hsa-miR-4284	CLIP-seq
MIRT885610	hsa-miR-4295	CLIP-seq
MIRT885611	hsa-miR-4429	CLIP-seq
MIRT885612	hsa-miR-4534	CLIP-seq
MIRT885613	hsa-miR-454	CLIP-seq
MIRT885614	hsa-miR-4662a-5p	CLIP-seq
MIRT885615	hsa-miR-4670-3p	CLIP-seq
MIRT885616	hsa-miR-4694-3p	CLIP-seq
MIRT885617	hsa-miR-4696	CLIP-seq
MIRT885618	hsa-miR-4711-3p	CLIP-seq
MIRT885619	hsa-miR-4714-5p	CLIP-seq
MIRT885620	hsa-miR-4716-5p	CLIP-seq
MIRT885621	hsa-miR-4796-3p	CLIP-seq
MIRT885622	hsa-miR-488	CLIP-seq
MIRT885623	hsa-miR-495	CLIP-seq
MIRT885624	hsa-miR-496	CLIP-seq
MIRT885625	hsa-miR-519a	CLIP-seq
MIRT885626	hsa-miR-519b-3p	CLIP-seq
MIRT885627	hsa-miR-519c-3p	CLIP-seq
MIRT885628	hsa-miR-519d	CLIP-seq
MIRT885629	hsa-miR-520d-5p	CLIP-seq
MIRT885630	hsa-miR-524-5p	CLIP-seq
MIRT885631	hsa-miR-548ah	CLIP-seq
MIRT885632	hsa-miR-548an	CLIP-seq
MIRT885633	hsa-miR-548h	CLIP-seq
MIRT885634	hsa-miR-548j	CLIP-seq
MIRT885635	hsa-miR-587	CLIP-seq
MIRT885636	hsa-miR-605	CLIP-seq
MIRT885637	hsa-miR-607	CLIP-seq
MIRT885638	hsa-miR-93	CLIP-seq
MIRT885639	hsa-miR-98	CLIP-seq
MIRT1962687	hsa-miR-1224-5p	CLIP-seq
MIRT885581	hsa-miR-1324	CLIP-seq
MIRT885590	hsa-miR-217	CLIP-seq
MIRT1962688	hsa-miR-3614-5p	CLIP-seq
MIRT1962689	hsa-miR-3915	CLIP-seq
MIRT1962690	hsa-miR-3928	CLIP-seq
MIRT1962691	hsa-miR-4689	CLIP-seq
MIRT1962692	hsa-miR-4789-5p	CLIP-seq
MIRT1962693	hsa-miR-518a-5p	CLIP-seq
MIRT1962694	hsa-miR-527	CLIP-seq
MIRT885633	hsa-miR-548h	CLIP-seq
MIRT885634	hsa-miR-548j	CLIP-seq
MIRT1962695	hsa-miR-668	CLIP-seq
MIRT2198949	hsa-miR-1251	CLIP-seq
MIRT2198950	hsa-miR-203	CLIP-seq
MIRT885591	hsa-miR-24	CLIP-seq
MIRT1962688	hsa-miR-3614-5p	CLIP-seq
MIRT2198951	hsa-miR-3662	CLIP-seq
MIRT2198952	hsa-miR-4274	CLIP-seq
MIRT885609	hsa-miR-4284	CLIP-seq
MIRT2198953	hsa-miR-4704-3p	CLIP-seq
MIRT2198954	hsa-miR-4742-5p	CLIP-seq
MIRT2198955	hsa-miR-4803	CLIP-seq
MIRT885622	hsa-miR-488	CLIP-seq
MIRT885624	hsa-miR-496	CLIP-seq
MIRT2198956	hsa-miR-513a-5p	CLIP-seq
MIRT1962693	hsa-miR-518a-5p	CLIP-seq
MIRT1962694	hsa-miR-527	CLIP-seq
MIRT2198957	hsa-miR-548a-3p	CLIP-seq
MIRT2198958	hsa-miR-548e	CLIP-seq
MIRT2198959	hsa-miR-548f	CLIP-seq
MIRT2198960	hsa-miR-656	CLIP-seq
MIRT1962695	hsa-miR-668	CLIP-seq
MIRT2501739	hsa-miR-25	CLIP-seq
MIRT2501740	hsa-miR-3074-5p	CLIP-seq
MIRT2501741	hsa-miR-32	CLIP-seq
MIRT2501742	hsa-miR-363	CLIP-seq
MIRT2501743	hsa-miR-367	CLIP-seq
MIRT2501744	hsa-miR-370	CLIP-seq
MIRT2501745	hsa-miR-4712-3p	CLIP-seq
MIRT1962693	hsa-miR-518a-5p	CLIP-seq
MIRT1962694	hsa-miR-527	CLIP-seq
MIRT2501746	hsa-miR-548c-3p	CLIP-seq
MIRT2501747	hsa-miR-889	CLIP-seq
MIRT2501748	hsa-miR-92a	CLIP-seq
MIRT2501749	hsa-miR-92b	CLIP-seq
MIRT2678024	hsa-miR-3130-3p	CLIP-seq
MIRT2678025	hsa-miR-3607-5p	CLIP-seq
MIRT2678026	hsa-miR-4474-3p	CLIP-seq
MIRT2678027	hsa-miR-4793-3p	CLIP-seq
MIRT2678028	hsa-miR-942	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26638075
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005814	Component	Centriole	IBA	21873635
GO:0005814	Component	Centriole	ISS
GO:0007098	Process	Centrosome cycle	IBA	21873635
GO:0007098	Process	Centrosome cycle	ISS
GO:0008022	Function	Protein C-terminus binding	IEA
GO:0010825	Process	Positive regulation of centrosome duplication	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0022027	Process	Interkinetic nuclear migration	IBA	21873635
GO:0030953	Process	Astral microtubule organization	IEA
GO:0045724	Process	Positive regulation of cilium assembly	ISS
GO:1903724	Process	Positive regulation of centriole elongation	IBA	21873635
GO:1903724	Process	Positive regulation of centriole elongation	IMP	27185865
GO:1904951	Process	Positive regulation of establishment of protein localization	IMP	27185865

MIM	HGNC	e!Ensembl
613446	26690	ENSG00000168944

Protein

UniProt ID

Q8N960

Protein name

Centrosomal protein of 120 kDa (Cep120) (Coiled-coil domain-containing protein 100)

Protein function

Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons du

PDB

4ICW , 4ICX , 6FLJ , 6FLK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	9 → 114	C2 domain	Domain
PF12416	DUF3668	118 → 340	Cep120 protein	Family
PF00168	C2	517 → 565	C2 domain	Domain

Sequence

MVSKSDQLLIVVSILEGRHFPKRPKHMLVVEAKFDGEQLATDPVDHTDQPEFATELAWEI
DRKALHQHRLQRTPIKLQCFALDPVTSAKETIGYIVLDLRTAQETKQAPKWYQLLSNKYT
KFKSEIQISIALETDTKPPVDSFKAKGAPPRDGKVPAILAGLDPRDIVAVLNEEGGYHQI
GPAEYCTDSFIMSVTIAFATQLEQLIPCTMKLPERQPEFFFYYSLLGNDVTNEPFNDLIN
PNFEPERASVRIRSSVEILRVYLALQSKLQIHLCCGDQSLGSTEIPLTGLLKKGSTEINQ
HPVTVEGAFTLDPPNRAKQKLAPIPVELAPTVGVSVALQREGIDSQSLIELKTQNEHEPE
HSKKKVLTPIKEKTLTGPKSPTVSPVPSHNQSPPTKDDATESEVESLQYDKDTKPNPKAS
SSVPASLAQLVTTSNASEVASGQKIAVPATSHHFCFSIDLRSIHALEIGFPINCILRYSY
PFFGSAAPIMTNPPVEVRKNMEVFLPQSYCAFDFATMPHQLQDTFLRIPLLVELWHKDKM
SKDLLLGIARIQLSNILSSEKTRFLGSNGEQCWRQTYSESVPVIAAQGSNNRIADLSYTV
TLEDYGLVKMREIFISDSSQGVSAVQQKPSSLPPAPCPSEIQTEPRETLEYKAALELEMW
KEMQEDIFENQLKQKELAHMQALAEEWKKRDRERESLVKKKVAEYTILEGKLQKTLIDLE
KREQQLASVESELQREKKELQSERQRNLQELQDSIRRAKEDCIHQVELERLKIKQLEEDK
HRLQQQLNDAENKYKILEKEFQQFKDQQNNKPEIRLQSEINLLTLEKVELERKLESATKS
KLHYKQQWGRALKELARLKQREQESQMARLKKQQEELEQMRLRYLAAEEKDTVKTERQEL
LDIRNELNRLRQQEQKQYQDSTEIASGKKDGPHGSVLEEGLDDYLTRLIEERDTLMRTGV
YNHEDRIISELDRQIREILAKSNASN

Sequence length

986

Interactions

View interactions

Show/Hide Causal Diseases (32)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Asphyxiating thoracic dystrophy	Saldino-Noonan Syndrome	rs137853115, rs137853025, rs1565310938, rs137853028, rs137853029, rs137853030, rs137853031, rs137853032, rs431905499, rs137853033, rs137853034, rs137853035, rs431905500, rs483352907, rs387906980 View all (112 more)
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cerebellar vermis agenesis	Familial aplasia of the vermis	rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003 View all (121 more)	27208211
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Dextrocardia	Dextrocardia	rs1555672928
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Jeune thoracic dystrophy	Jeune thoracic dystrophy	rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905500, rs201188361, rs587776909, rs397514637, rs431905507, rs199952377, rs431905521, rs587777352, rs750396637, rs755338872 View all (122 more)	29847808, 25361962
Joubert syndrome	JOUBERT SYNDROME 31, Joubert syndrome 1, Joubert syndrome	rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129 View all (432 more)	27208211
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Macrocephaly	Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962 View all (38 more)	30213928
Nephronophthisis	Nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856 View all (190 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Polydactyly	Polydactyly, POLYDACTYLY, POSTAXIAL	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Renal insufficiency	Renal Insufficiency	rs1596536873
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803 View all (2328 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Short rib-polydactyly syndrome	Short Rib-Polydactyly Syndrome	rs387907085, rs431905505, rs886037869, rs886037870, rs886044119, rs765513105, rs769724508, rs1555369050, rs1553324519, rs200335504, rs751222088, rs576969206, rs1037828930, rs1360128571, rs547679833 View all (4 more)
Short-rib thoracic dysplasia with or without polydactyly	SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY	rs137852924, rs794726665, rs121908425, rs387906890, rs483352906, rs199689137, rs431905508, rs587777064, rs587777065, rs587777066, rs149614625, rs587777078, rs587777079, rs587777081, rs587777082 View all (79 more)	25361962, 29847808, 27208211
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (12)

Disease term	Disease name	Evidence	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia		ClinVar
Pulmonary hypoplasia	Congenital hypoplasia of lung		ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney		ClinVar
Jeune Syndrome	Jeune syndrome		GenCC
Joubert Syndrome With Ocular Defect	Joubert syndrome with ocular defect		GenCC
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	short-rib thoracic dysplasia 13 with or without polydactyly		GenCC
Coronary artery disease	Coronary artery disease		GWAS
Diabetes	Diabetes		GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome		GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
Agenesis of Cerebellar Vermis	Associate	27208211, 30988386, 33297941, 33486889, 34711653
Agenesis of Corpus Callosum	Associate	33270637
Cerebellar Hypoplasia	Associate	34711653
Ciliopathies	Associate	27208211, 30988386, 33297941, 33486889
Encephalocele	Associate	27208211
Fibrosis	Associate	37915003
Intervertebral Disc Degeneration	Associate	37915003
Jeune syndrome	Associate	27208211, 30988386, 33297941
Meckel syndrome type 1	Associate	27208211, 33486889
Multiple Myeloma	Associate	35013207
Osteofibrous Dysplasia	Associate	27208211
Periventricular Nodular Heterotopia	Associate	34711653
Thinness	Associate	30677029

CEP120 (centrosomal protein 120)