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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22995
Gene name	Centrosomal protein 152
Gene symbol	CEP152
Synonyms (NCBI Gene)	MCPH4MCPH9SCKL5
Chromosome	15
Chromosome location	15q21.1
Summary	This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010

Show/Hide all (31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74553953	G>C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs141600901	CA>-	Likely-benign, benign-likely-benign, pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant
rs182018947	A>C,G	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs188101277	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs200879436	T>C	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant, non coding transcript variant
rs200957146	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs201342438	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs201442213	G>A	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs267606717	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs267606718	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs374200686	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs398122977	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs537556482	C>T	Likely-pathogenic	3 prime UTR variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs587783414	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs587783421	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs587783423	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs751691427	C>T	Likely-pathogenic	Intron variant
rs754267846	A>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs760130069	T>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs770971891	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs776652341	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs869312853	TT>A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs886039327	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs966888627	C>A,G,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1064793906	AG>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1342429887	C>T	Likely-pathogenic	Genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1349385657	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1555416269	GTT>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant, non coding transcript variant
rs1555418825	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1566971734	T>-	Likely-pathogenic	3 prime UTR variant, intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1567024512	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant

Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031041	hsa-miR-21-5p	Microarray	18591254
MIRT048076	hsa-miR-197-3p	CLASH	23622248
MIRT047867	hsa-miR-30c-5p	CLASH	23622248
MIRT046124	hsa-miR-30b-5p	CLASH	23622248
MIRT040946	hsa-miR-18a-3p	CLASH	23622248
MIRT040600	hsa-miR-92b-3p	CLASH	23622248
MIRT039610	hsa-miR-615-3p	CLASH	23622248
MIRT039254	hsa-miR-454-5p	CLASH	23622248
MIRT036813	hsa-miR-877-3p	CLASH	23622248
MIRT036267	hsa-miR-1229-3p	CLASH	23622248
MIRT885736	hsa-miR-141	CLIP-seq
MIRT885737	hsa-miR-200a	CLIP-seq
MIRT885738	hsa-miR-2467-3p	CLIP-seq
MIRT885739	hsa-miR-3158-5p	CLIP-seq
MIRT885740	hsa-miR-3174	CLIP-seq
MIRT885741	hsa-miR-3678-3p	CLIP-seq
MIRT885742	hsa-miR-4418	CLIP-seq
MIRT885743	hsa-miR-509-3-5p	CLIP-seq
MIRT885744	hsa-miR-509-5p	CLIP-seq
MIRT885745	hsa-miR-759	CLIP-seq
MIRT2198990	hsa-miR-29a	CLIP-seq
MIRT2198991	hsa-miR-29b	CLIP-seq
MIRT2198992	hsa-miR-29c	CLIP-seq
MIRT2198993	hsa-miR-4789-5p	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000242	Component	Pericentriolar material	IDA	26337392
GO:0005515	Function	Protein binding	IPI	20852615, 21059844, 21131973, 24997597, 26188084, 26297806, 26496610, 26638075, 35709258, 35849559
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21131973, 21399614, 35849559
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	22020124, 26337392, 32060285
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007099	Process	Centriole replication	IBA
GO:0007099	Process	Centriole replication	IDA	21059844
GO:0007099	Process	Centriole replication	IEA
GO:0007099	Process	Centriole replication	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0019901	Function	Protein kinase binding	IPI	20852615, 21059844
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0051298	Process	Centrosome duplication	IMP	20852615
GO:0098535	Process	De novo centriole assembly involved in multi-ciliated epithelial cell differentiation	IEA
GO:0098535	Process	De novo centriole assembly involved in multi-ciliated epithelial cell differentiation	ISS
GO:0098536	Component	Deuterosome	IEA
GO:0098536	Component	Deuterosome	ISS
GO:0120098	Component	Procentriole	IDA	24997597
GO:0120099	Component	Procentriole replication complex	IPI	24997597

MIM	HGNC	e!Ensembl
613529	29298	ENSG00000103995

O94986

Protein name

Centrosomal protein of 152 kDa (Cep152)

Protein function

Necessary for centrosome duplication; the function also seems to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecula

PDB

4N7V , 6CSU , 6CSV

Family and domains

Sequence

MSLDFGSVALPVQNEDEEYDEEDYEREKELQQLLTDLPHDMLDDDLSSPELQYSDCSEDG
TDGQPHHPEQLEMSWNEQMLPKSQSVNGYNEIQSLYAGEKCGNVWEENRSKTEDRHPVYH
PEEGGDEGGSGYSPPSKCEQTDLYHLPENFRPYTNGQKQEFNNQATNVIKFSDPQWNHFQ
GPSCQGLEPYNKVTYKPYQSSAQNNGSPAQEITGSDTFEGLQQQFLGANENSAENMQIIQ
LQVLNKAKERQLENLIEKLNESERQIRYLNHQLVIIKDEKDGLTLSLRESQKLFQNGKER
EIQLEAQIKALETQIQALKVNEEQMIKKSRTTEMALESLKQQLVDLHHSESLQRAREQHE
SIVMGLTKKYEEQVLSLQKNLDATVTALKEQEDICSRLKDHVKQLERNQEAIKLEKTEII
NKLTRSLEESQKQCAHLLQSGSVQEVAQLQFQLQQAQKAHAMSANMNKALQEELTELKDE
ISLYESAAKLGIHPSDSEGELNIELTESYVDLGIKKVNWKKSKVTSIVQEEDPNEELSKD
EFILKLKAEVQRLLGSNSMKRHLVSQLQNDLKDCHKKIEDLHQVKKDEKSIEVETKTDTS
EKPKNQLWPESSTSDVVRDDILLLKNEIQVLQQQNQELKETEGKLRNTNQDLCNQMRQMV
QDFDHDKQEAVDRCERTYQQHHEAMKTQIRESLLAKHALEKQQLFEAYERTHLQLRSELD
KLNKEVTAVQECYLEVCREKDNLELTLRKTTEKEQQTQEKIKEKLIQQLEKEWQSKLDQT
IKAMKKKTLDCGSQTDQVTTSDVISKKEMAIMIEEQKCTIQQNLEQEKDIAIKGAMKKLE
IELELKHCENITKQVEIAVQNAHQRWLGELPELAEYQALVKAEQKKWEEQHEVSVNKRIS
FAVSEAKEKWKSELENMRKNILPGKELEEKIHSLQKELELKNEEVPVVIRAELAKARSEW
NKEKQEEIHRIQEQNEQDYRQFLDDHRNKINEVLAAAKEDFMKQKTELLLQKETELQTCL
DQSRREWTMQEAKRIQLEIYQYEEDILTVLGVLLSDTQKEHISDSEDKQLLEIMSTCSSK
WMSVQYFEKLKGCIQKAFQDTLPLLVENADPEWKKRNMAELSKDSASQGTGQGDPGPAAG
HHAQPLALQATEAEADKKKVLEIKDLCCGHCFQELEKAKQECQDLKGKLEKCCRHLQHLE
RKHKAVVEKIGEENNKVVEELIEENNDMKNKLEELQTLCKTPPRSLSAGAIENACLPCSG
GALEELRGQYIKAVKKIKCDMLRYIQESKERAAEMVKAEVLRERQETARKMRKYYLICLQ
QILQDDGKEGAEKKIMNAASKLATMAKLLETPISSKSQSKTTQSALPLTSEMLIAVKKSK
RNDVNQKIPCCIESKSNSVNTITRTLCEQAPKRRAACNLQRLLENSEHQSIKHVGSKETH
LEFQFGDGSCKHLNSLPRNVSPEFVPCEGEGGFGLHKKKDLLSDNGSESLPHSAAYPFLG
TLGNKPSPRCTPGPSESGCMHITFRDSNERLGLKVYKCNPLMESENAASEKSQGLDVQEP
PVKDGGDLSDCLGWPSSSATLSFDSREASFVHGRPQGTLEIPSESVKSKQFSPSGYLSDT
EESNMICQTMKCQRYQTPYLSEETTYLEPGKISVNCGHPSRHKADRLKSDFKKLSSTLPS
SVCQQPSRKLIVPLSSQQDSGFDSPFVNLD

Sequence length

1710

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CEP152-related disorder	Likely pathogenic; Pathogenic	rs267606717, rs182018947, rs199773611, rs1895345135, rs2504602075, rs1555418825, rs754267846, rs537376932	RCV000778440 RCV004556749 RCV004536487 RCV003324187 RCV004534387 RCV003230525 RCV004530728 RCV000778441 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly 9, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs748767202, rs764602105, rs1208144689, rs766194658, rs1263911484, rs267606717, rs267606718, rs754565020, rs587783423, rs587783421, rs182018947, rs587783414, rs2504488763, rs376895274, rs869312853 View all (16 more)	RCV005003039 RCV005005232 RCV002226781 RCV001839057 RCV003989708 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seckel syndrome	Likely pathogenic; Pathogenic	rs1342429887	RCV000616115	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome 5	Likely pathogenic; Pathogenic	rs748767202, rs764602105, rs1208144689, rs766194658, rs267606717, rs754565020, rs587783423, rs182018947, rs376895274, rs2504602075, rs1421061751, rs748089878, rs957548078, rs763537210, rs776054057 View all (4 more)	RCV005003039 RCV005005232 RCV005005256 RCV001839057 RCV000763360 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY WITH OR WITHOUT SHORT STATURE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Microcephaly, Recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	25996639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	21983783, 24148351		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	26297806	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37916327	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28901661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24997597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	21983783, 26297806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	GENOMICS_ENGLAND_DG	21131973		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	UNIPROT_DG	20598275		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	31696992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22219177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	21131973		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome	Seckel Syndrome	ORPHANET_DG	21131973		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome	Seckel Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome	Seckel Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome 1	Seckel Syndrome	CTD_human_DG	21131973		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seckel syndrome 1	Seckel syndrome	Pubtator	21131973	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME 5	Seckel Syndrome	GENOMICS_ENGLAND_DG	21131973		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SECKEL SYNDROME 5	Seckel Syndrome	CLINVAR_DG	21131973		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SECKEL SYNDROME 5	Seckel Syndrome	UNIPROT_DG	21131973		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CEP152 (centrosomal protein 152)