CEP57 (centrosomal protein 57)

Gene

• Entrez ID: 9702
• Gene name: Centrosomal protein 57
• Gene symbol: CEP57
• Synonyms (NCBI Gene): MVA2, PIG8, TSP57
• Chromosome: 11
• Chromosome location: 11q21
• Summary: This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerizati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906977	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs577173144	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs771182933	C>A,G,T	Pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, missense variant
rs1166323407	->CAATGTTCAGC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555052278	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1565326373	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1590962541	C>-	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039373	hsa-miR-421	CLASH	23622248
MIRT247082	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT247079	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT247082	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT247078	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT247083	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT247080	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT247087	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT247079	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT886141	hsa-miR-106a	CLIP-seq
MIRT886142	hsa-miR-106b	CLIP-seq
MIRT886143	hsa-miR-1178	CLIP-seq
MIRT886144	hsa-miR-1183	CLIP-seq
MIRT886145	hsa-miR-1229	CLIP-seq
MIRT886146	hsa-miR-1305	CLIP-seq
MIRT886147	hsa-miR-141	CLIP-seq
MIRT886148	hsa-miR-150	CLIP-seq
MIRT886149	hsa-miR-17	CLIP-seq
MIRT886150	hsa-miR-188-5p	CLIP-seq
MIRT886151	hsa-miR-200a	CLIP-seq
MIRT886152	hsa-miR-203	CLIP-seq
MIRT886153	hsa-miR-20a	CLIP-seq
MIRT886154	hsa-miR-20b	CLIP-seq
MIRT886155	hsa-miR-216a	CLIP-seq
MIRT886156	hsa-miR-300	CLIP-seq
MIRT886157	hsa-miR-3120-3p	CLIP-seq
MIRT886158	hsa-miR-3177-5p	CLIP-seq
MIRT886159	hsa-miR-3662	CLIP-seq
MIRT886160	hsa-miR-3672	CLIP-seq
MIRT886161	hsa-miR-381	CLIP-seq
MIRT886162	hsa-miR-3942-5p	CLIP-seq
MIRT886163	hsa-miR-3944-5p	CLIP-seq
MIRT886164	hsa-miR-3973	CLIP-seq
MIRT886165	hsa-miR-4270	CLIP-seq
MIRT886166	hsa-miR-4325	CLIP-seq
MIRT886167	hsa-miR-4436b-5p	CLIP-seq
MIRT886168	hsa-miR-4438	CLIP-seq
MIRT886169	hsa-miR-4441	CLIP-seq
MIRT886170	hsa-miR-4477b	CLIP-seq
MIRT886171	hsa-miR-4490	CLIP-seq
MIRT886172	hsa-miR-4687-3p	CLIP-seq
MIRT886173	hsa-miR-4693-5p	CLIP-seq
MIRT886174	hsa-miR-4703-5p	CLIP-seq
MIRT886175	hsa-miR-4713-5p	CLIP-seq
MIRT886176	hsa-miR-4729	CLIP-seq
MIRT886177	hsa-miR-4755-3p	CLIP-seq
MIRT886178	hsa-miR-4766-5p	CLIP-seq
MIRT886179	hsa-miR-498	CLIP-seq
MIRT886180	hsa-miR-519a	CLIP-seq
MIRT886181	hsa-miR-519b-3p	CLIP-seq
MIRT886182	hsa-miR-519c-3p	CLIP-seq
MIRT886183	hsa-miR-519d	CLIP-seq
MIRT886184	hsa-miR-520d-5p	CLIP-seq
MIRT886185	hsa-miR-520g	CLIP-seq
MIRT886186	hsa-miR-520h	CLIP-seq
MIRT886187	hsa-miR-524-5p	CLIP-seq
MIRT886188	hsa-miR-532-3p	CLIP-seq
MIRT886189	hsa-miR-545	CLIP-seq
MIRT886190	hsa-miR-548a-3p	CLIP-seq
MIRT886191	hsa-miR-548ae	CLIP-seq
MIRT886192	hsa-miR-548aj	CLIP-seq
MIRT886193	hsa-miR-548am	CLIP-seq
MIRT886194	hsa-miR-548e	CLIP-seq
MIRT886195	hsa-miR-548f	CLIP-seq
MIRT886196	hsa-miR-548p	CLIP-seq
MIRT886197	hsa-miR-548x	CLIP-seq
MIRT886198	hsa-miR-582-3p	CLIP-seq
MIRT886199	hsa-miR-582-5p	CLIP-seq
MIRT886200	hsa-miR-93	CLIP-seq
MIRT886191	hsa-miR-548ae	CLIP-seq
MIRT886192	hsa-miR-548aj	CLIP-seq
MIRT886193	hsa-miR-548am	CLIP-seq
MIRT886197	hsa-miR-548x	CLIP-seq
MIRT1962818	hsa-miR-3920	CLIP-seq
MIRT1962819	hsa-miR-4427	CLIP-seq
MIRT886168	hsa-miR-4438	CLIP-seq
MIRT1962820	hsa-miR-4477a	CLIP-seq
MIRT886170	hsa-miR-4477b	CLIP-seq
MIRT886172	hsa-miR-4687-3p	CLIP-seq
MIRT1962821	hsa-miR-4719	CLIP-seq
MIRT886141	hsa-miR-106a	CLIP-seq
MIRT886142	hsa-miR-106b	CLIP-seq
MIRT2199184	hsa-miR-1228	CLIP-seq
MIRT886149	hsa-miR-17	CLIP-seq
MIRT886153	hsa-miR-20a	CLIP-seq
MIRT886154	hsa-miR-20b	CLIP-seq
MIRT886157	hsa-miR-3120-3p	CLIP-seq
MIRT2199185	hsa-miR-3143	CLIP-seq
MIRT2199186	hsa-miR-3661	CLIP-seq
MIRT1962818	hsa-miR-3920	CLIP-seq
MIRT886163	hsa-miR-3944-5p	CLIP-seq
MIRT886171	hsa-miR-4490	CLIP-seq
MIRT2199187	hsa-miR-4646-5p	CLIP-seq
MIRT2199188	hsa-miR-4747-5p	CLIP-seq
MIRT2199189	hsa-miR-4793-5p	CLIP-seq
MIRT886180	hsa-miR-519a	CLIP-seq
MIRT886181	hsa-miR-519b-3p	CLIP-seq
MIRT886182	hsa-miR-519c-3p	CLIP-seq
MIRT886183	hsa-miR-519d	CLIP-seq
MIRT886184	hsa-miR-520d-5p	CLIP-seq
MIRT886185	hsa-miR-520g	CLIP-seq
MIRT886186	hsa-miR-520h	CLIP-seq
MIRT886187	hsa-miR-524-5p	CLIP-seq
MIRT2199190	hsa-miR-543	CLIP-seq
MIRT886189	hsa-miR-545	CLIP-seq
MIRT886190	hsa-miR-548a-3p	CLIP-seq
MIRT886191	hsa-miR-548ae	CLIP-seq
MIRT886192	hsa-miR-548aj	CLIP-seq
MIRT886193	hsa-miR-548am	CLIP-seq
MIRT886194	hsa-miR-548e	CLIP-seq
MIRT886195	hsa-miR-548f	CLIP-seq
MIRT886197	hsa-miR-548x	CLIP-seq
MIRT886198	hsa-miR-582-3p	CLIP-seq
MIRT2199191	hsa-miR-627	CLIP-seq
MIRT2199192	hsa-miR-631	CLIP-seq
MIRT886200	hsa-miR-93	CLIP-seq
MIRT2385963	hsa-miR-4271	CLIP-seq
MIRT2385964	hsa-miR-4725-3p	CLIP-seq
MIRT2385965	hsa-miR-4795-5p	CLIP-seq
MIRT2446890	hsa-miR-3174	CLIP-seq
MIRT2446891	hsa-miR-4803	CLIP-seq
MIRT2446892	hsa-miR-496	CLIP-seq
MIRT2501932	hsa-miR-1208	CLIP-seq
MIRT2501933	hsa-miR-1226	CLIP-seq
MIRT886145	hsa-miR-1229	CLIP-seq
MIRT2501934	hsa-miR-1279	CLIP-seq
MIRT886146	hsa-miR-1305	CLIP-seq
MIRT2501935	hsa-miR-18a	CLIP-seq
MIRT2501936	hsa-miR-18b	CLIP-seq
MIRT2501937	hsa-miR-204	CLIP-seq
MIRT2501938	hsa-miR-211	CLIP-seq
MIRT2501939	hsa-miR-2681	CLIP-seq
MIRT2199185	hsa-miR-3143	CLIP-seq
MIRT2501940	hsa-miR-3163	CLIP-seq
MIRT2501941	hsa-miR-340	CLIP-seq
MIRT2501942	hsa-miR-3613-3p	CLIP-seq
MIRT2501943	hsa-miR-3647-3p	CLIP-seq
MIRT2501944	hsa-miR-3654	CLIP-seq
MIRT2199186	hsa-miR-3661	CLIP-seq
MIRT886160	hsa-miR-3672	CLIP-seq
MIRT2501945	hsa-miR-374a	CLIP-seq
MIRT2501946	hsa-miR-374b	CLIP-seq
MIRT1962818	hsa-miR-3920	CLIP-seq
MIRT2501947	hsa-miR-4282	CLIP-seq
MIRT2501948	hsa-miR-4284	CLIP-seq
MIRT2501949	hsa-miR-431	CLIP-seq
MIRT2501950	hsa-miR-4437	CLIP-seq
MIRT886168	hsa-miR-4438	CLIP-seq
MIRT2501951	hsa-miR-4474-5p	CLIP-seq
MIRT1962820	hsa-miR-4477a	CLIP-seq
MIRT886170	hsa-miR-4477b	CLIP-seq
MIRT2501952	hsa-miR-452	CLIP-seq
MIRT2501953	hsa-miR-4638-3p	CLIP-seq
MIRT2199187	hsa-miR-4646-5p	CLIP-seq
MIRT2501954	hsa-miR-4668-3p	CLIP-seq
MIRT2501955	hsa-miR-4674	CLIP-seq
MIRT2501956	hsa-miR-4676-3p	CLIP-seq
MIRT886172	hsa-miR-4687-3p	CLIP-seq
MIRT2501957	hsa-miR-4705	CLIP-seq
MIRT2501958	hsa-miR-4711-3p	CLIP-seq
MIRT1962821	hsa-miR-4719	CLIP-seq
MIRT2501959	hsa-miR-4733-3p	CLIP-seq
MIRT2501960	hsa-miR-4735-3p	CLIP-seq
MIRT2501961	hsa-miR-4735-5p	CLIP-seq
MIRT2199188	hsa-miR-4747-5p	CLIP-seq
MIRT2501962	hsa-miR-4755-5p	CLIP-seq
MIRT2501963	hsa-miR-4760-3p	CLIP-seq
MIRT2501964	hsa-miR-4775	CLIP-seq
MIRT2501965	hsa-miR-4780	CLIP-seq
MIRT2501966	hsa-miR-4786-5p	CLIP-seq
MIRT2501967	hsa-miR-4789-3p	CLIP-seq
MIRT2501968	hsa-miR-4796-5p	CLIP-seq
MIRT886179	hsa-miR-498	CLIP-seq
MIRT2501969	hsa-miR-500a	CLIP-seq
MIRT2501970	hsa-miR-501-5p	CLIP-seq
MIRT2501971	hsa-miR-513a-3p	CLIP-seq
MIRT886190	hsa-miR-548a-3p	CLIP-seq
MIRT2501972	hsa-miR-548c-3p	CLIP-seq
MIRT886194	hsa-miR-548e	CLIP-seq
MIRT886195	hsa-miR-548f	CLIP-seq
MIRT2501973	hsa-miR-581	CLIP-seq
MIRT2501974	hsa-miR-590-3p	CLIP-seq
MIRT2501975	hsa-miR-592	CLIP-seq
MIRT2501976	hsa-miR-599	CLIP-seq
MIRT2501977	hsa-miR-607	CLIP-seq
MIRT2501978	hsa-miR-623	CLIP-seq
MIRT2199192	hsa-miR-631	CLIP-seq
MIRT2501979	hsa-miR-642b	CLIP-seq
MIRT2501980	hsa-miR-769-5p	CLIP-seq
MIRT2501981	hsa-miR-944	CLIP-seq
MIRT2501932	hsa-miR-1208	CLIP-seq
MIRT2501933	hsa-miR-1226	CLIP-seq
MIRT886145	hsa-miR-1229	CLIP-seq
MIRT2501934	hsa-miR-1279	CLIP-seq
MIRT886146	hsa-miR-1305	CLIP-seq
MIRT2501937	hsa-miR-204	CLIP-seq
MIRT2501938	hsa-miR-211	CLIP-seq
MIRT2501939	hsa-miR-2681	CLIP-seq
MIRT2501942	hsa-miR-3613-3p	CLIP-seq
MIRT886160	hsa-miR-3672	CLIP-seq
MIRT2501945	hsa-miR-374a	CLIP-seq
MIRT2501946	hsa-miR-374b	CLIP-seq
MIRT2501948	hsa-miR-4284	CLIP-seq
MIRT2501950	hsa-miR-4437	CLIP-seq
MIRT2501951	hsa-miR-4474-5p	CLIP-seq
MIRT1962820	hsa-miR-4477a	CLIP-seq
MIRT2501952	hsa-miR-452	CLIP-seq
MIRT2501954	hsa-miR-4668-3p	CLIP-seq
MIRT2501955	hsa-miR-4674	CLIP-seq
MIRT2501956	hsa-miR-4676-3p	CLIP-seq
MIRT2501957	hsa-miR-4705	CLIP-seq
MIRT2501958	hsa-miR-4711-3p	CLIP-seq
MIRT2501959	hsa-miR-4733-3p	CLIP-seq
MIRT2501962	hsa-miR-4755-5p	CLIP-seq
MIRT2501963	hsa-miR-4760-3p	CLIP-seq
MIRT2501964	hsa-miR-4775	CLIP-seq
MIRT2501965	hsa-miR-4780	CLIP-seq
MIRT2501967	hsa-miR-4789-3p	CLIP-seq
MIRT2501968	hsa-miR-4796-5p	CLIP-seq
MIRT886179	hsa-miR-498	CLIP-seq
MIRT2501969	hsa-miR-500a	CLIP-seq
MIRT2501970	hsa-miR-501-5p	CLIP-seq
MIRT2501972	hsa-miR-548c-3p	CLIP-seq
MIRT2501973	hsa-miR-581	CLIP-seq
MIRT2501974	hsa-miR-590-3p	CLIP-seq
MIRT2501975	hsa-miR-592	CLIP-seq
MIRT2501976	hsa-miR-599	CLIP-seq
MIRT2501977	hsa-miR-607	CLIP-seq
MIRT2501978	hsa-miR-623	CLIP-seq
MIRT2501979	hsa-miR-642b	CLIP-seq
MIRT2501981	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15607035, 20195357, 21516116, 25416956, 27107012, 31515488, 32296183, 32814053, 33961781, 35709258
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	12954732
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	10942595
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	14654843, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	12717444
GO:0005874	Component	Microtubule	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS	12954732
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IPI	12717444
GO:0017134	Function	Fibroblast growth factor binding	IPI	12717444
GO:0034451	Component	Centriolar satellite	IDA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	12717444
GO:0043015	Function	Gamma-tubulin binding	IEA
GO:0051260	Process	Protein homooligomerization	IEA

Other IDs

• MIM: 607951
• HGNC: 30794
• e!Ensembl: ENSG00000166037

Protein

• UniProt ID: Q86XR8
• Protein name: Centrosomal protein of 57 kDa (Cep57) (FGF2-interacting protein) (Testis-specific protein 57) (Translokin)
• Protein function: Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but t
• PDB: 4L0R, 8IBH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14073	Cep57_CLD	68 → 245	Centrosome localisation domain of Cep57	Coiled-coil
  PF06657	Cep57_MT_bd	348 → 421	Centrosome microtubule-binding domain of Cep57	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12717444}.
• Sequence:

  MAAASVSAASGSHLSNSFAEPSRSNGSMVRHSSSPYVVYPSDKPFLNSDLRRSPSKPTLA
  YPESNSRAIFSALKNLQDKIRRLELERIQAEESVKTLSRETIEYKKVLDEQIQERENSKN
  EESKHNQELTSQLLAAENKCNLLEKQLEYMRNMIKHAEMERTSVLEKQVSLERERQHDQT
  HVQSQLEKLDLLEQEYNKLTTMQALAEKKMQELEAKLHEEEQERKRMQAKAAELQTGLET
  NRLIFEDKATPCVPNARRIKKKKSKPPEKKSSRNYFGAQPHYRLCLGDMPFVAGKSTSPS
  HAVVANVQLVLHLMKQHSKALCNDRVINSIPLAKQVSSRGGKSKKLSVTPPSSNGINEEL
  SEVLQTLQDEFGQMSFDHQQLAKLIQESPTVELKDKLECELEALVGRMEAKANQITKVRK
  YQAQLEKQKLEKQKKELKATKKTLDEERNSSSRSGITGTTNKKDFMKLRPGEKRRKNLQL
  LKDMQSIQNSLQSSSLCWDY

• Sequence length: 500

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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Mosaic variegated aneuploidy syndrome	Pathogenic	rs1555052278	RCV000498788	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome 1	Pathogenic	rs1166323407	RCV000656492	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome 2	Pathogenic; Likely pathogenic	rs1399711421, rs775752088, rs1284736469, rs2496049330, rs2496263182, rs2496221057, rs1452779317, rs1565326373, rs1166323407, rs387906977, rs1565334264, rs1590962541, rs771182933, rs773014425, rs1862141371	RCV001331873 RCV001923710 RCV003078596 RCV003085098 RCV003641647 RCV003640709 RCV003640818 RCV000023668 RCV000023669 RCV000023670 RCV000696209 RCV000791171 RCV000797548 RCV001205462 RCV001255701	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEP57-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	21552266	Associate	★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32831971	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	35434947	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11753653, 21803008		★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	28553959	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	28553959		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	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
Growth Disorders	Growth disorder	Pubtator	35434947	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11753653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23243019		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11753653, 30035751		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35434947	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
mosaic variegated aneuploidy	Mosaic Variegated Aneuploidy	BEFREE	24259107, 30035751		★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic Variegated Aneuploidy	BEFREE	21552266, 24259107, 30010053, 30804344		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	21552266, 30804344, 31943948, 35434947	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome	Mosaic Variegated Aneuploidy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome 1	Mosaic Variegated Aneuploidy	BEFREE	21552266, 24259107, 30010053, 30804344		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome 1	Mosaic Variegated Aneuploidy	CTD_human_DG	21552266, 28553959		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome 1	Mosaic Variegated Aneuploidy	ORPHANET_DG	21552266, 24259107		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mosaic variegated aneuploidy syndrome 1	Mosaic Variegated Aneuploidy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2	Mosaic Variegated Aneuploidy	GENOMICS_ENGLAND_DG	12116237, 21552266		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2	Mosaic Variegated Aneuploidy	CLINGEN_DG	14654843, 17803911, 21552266, 22508265, 23569207, 24259107, 26743940, 30010053, 30035751, 30147898		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2	Mosaic Variegated Aneuploidy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11753653, 21803008, 24259107, 30035751, 31396480		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	29659569	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23243019		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29659569	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	24014029		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	BEFREE	30010053		★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vaginal Neoplasms	Vaginal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only