CEP164 (centrosomal protein 164)

Gene

• Entrez ID: 22897
• Gene name: Centrosomal protein 164
• Gene symbol: CEP164
• Synonyms (NCBI Gene): NPHP15
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cau

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112209873	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs143659874	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs145646425	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs147398904	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs387907309	A>C	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs387907310	C>T	Pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs387907311	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs747914869	->C	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs764893412	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs778819060	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs886041567	A>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057521785	T>C	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1565582604	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1565649749	T>C	Pathogenic	Terminator codon variant, non coding transcript variant, stop lost, genic downstream transcript variant
rs1592354614	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043960	hsa-miR-378a-3p	CLASH	23622248
MIRT043771	hsa-miR-328-3p	CLASH	23622248
MIRT885746	hsa-miR-1	CLIP-seq
MIRT885747	hsa-miR-1185	CLIP-seq
MIRT885748	hsa-miR-1224-5p	CLIP-seq
MIRT885749	hsa-miR-1225-3p	CLIP-seq
MIRT885750	hsa-miR-125a-5p	CLIP-seq
MIRT885751	hsa-miR-125b	CLIP-seq
MIRT885752	hsa-miR-1273f	CLIP-seq
MIRT885753	hsa-miR-1915	CLIP-seq
MIRT885754	hsa-miR-206	CLIP-seq
MIRT885755	hsa-miR-3150b-3p	CLIP-seq
MIRT885756	hsa-miR-3613-3p	CLIP-seq
MIRT885757	hsa-miR-3657	CLIP-seq
MIRT885758	hsa-miR-3673	CLIP-seq
MIRT885759	hsa-miR-3679-5p	CLIP-seq
MIRT885760	hsa-miR-4311	CLIP-seq
MIRT885761	hsa-miR-4319	CLIP-seq
MIRT885762	hsa-miR-4323	CLIP-seq
MIRT885763	hsa-miR-4459	CLIP-seq
MIRT885764	hsa-miR-4689	CLIP-seq
MIRT885765	hsa-miR-4726-3p	CLIP-seq
MIRT885766	hsa-miR-4732-3p	CLIP-seq
MIRT885767	hsa-miR-4751	CLIP-seq
MIRT885768	hsa-miR-4784	CLIP-seq
MIRT885769	hsa-miR-4786-3p	CLIP-seq
MIRT885770	hsa-miR-520g	CLIP-seq
MIRT885771	hsa-miR-520h	CLIP-seq
MIRT885772	hsa-miR-544b	CLIP-seq
MIRT885773	hsa-miR-613	CLIP-seq
MIRT885774	hsa-miR-665	CLIP-seq
MIRT885775	hsa-miR-670	CLIP-seq
MIRT1962727	hsa-miR-1205	CLIP-seq
MIRT1962728	hsa-miR-3919	CLIP-seq
MIRT2198994	hsa-miR-1281	CLIP-seq
MIRT2198995	hsa-miR-150	CLIP-seq
MIRT885753	hsa-miR-1915	CLIP-seq
MIRT2198996	hsa-miR-2467-3p	CLIP-seq
MIRT2198997	hsa-miR-3667-3p	CLIP-seq
MIRT2198998	hsa-miR-4270	CLIP-seq
MIRT2198999	hsa-miR-4287	CLIP-seq
MIRT885762	hsa-miR-4323	CLIP-seq
MIRT2199000	hsa-miR-4441	CLIP-seq
MIRT2199001	hsa-miR-4685-3p	CLIP-seq
MIRT2199002	hsa-miR-4691-5p	CLIP-seq
MIRT885772	hsa-miR-544b	CLIP-seq
MIRT885763	hsa-miR-4459	CLIP-seq
MIRT2385946	hsa-miR-4649-3p	CLIP-seq
MIRT2385947	hsa-miR-4722-5p	CLIP-seq
MIRT2385948	hsa-miR-4779	CLIP-seq
MIRT885750	hsa-miR-125a-5p	CLIP-seq
MIRT885751	hsa-miR-125b	CLIP-seq
MIRT2501752	hsa-miR-203	CLIP-seq
MIRT885755	hsa-miR-3150b-3p	CLIP-seq
MIRT2501753	hsa-miR-3672	CLIP-seq
MIRT2501754	hsa-miR-4267	CLIP-seq
MIRT885761	hsa-miR-4319	CLIP-seq
MIRT885764	hsa-miR-4689	CLIP-seq
MIRT885766	hsa-miR-4732-3p	CLIP-seq
MIRT885768	hsa-miR-4784	CLIP-seq
MIRT2501755	hsa-miR-508-5p	CLIP-seq
MIRT885772	hsa-miR-544b	CLIP-seq
MIRT885775	hsa-miR-670	CLIP-seq
MIRT2501756	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22863007, 23530209, 32296183, 33961781
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	23348840, 23530209, 24421332, 26337392, 27623382
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0051301	Process	Cell division	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	17954613, 23348840
GO:0097539	Component	Ciliary transition fiber	IBA
GO:0097539	Component	Ciliary transition fiber	IDA	23348840
GO:0097539	Component	Ciliary transition fiber	IEA

Other IDs

• MIM: 614848
• HGNC: 29182
• e!Ensembl: ENSG00000110274

Protein

• UniProt ID: Q9UPV0
• Protein name: Centrosomal protein of 164 kDa (Cep164)
• Protein function: Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear division
• PDB: 7NWJ, 7O06, 7O0S, 7O3B
• Tissue specificity: TISSUE SPECIFICITY: Expressed in several cell lines. {ECO:0000269|PubMed:17954613}.
• Sequence:

  MAGRPLRIGDQLVLEEDYDETYIPSEQEILEFAREIGIDPIKEPELMWLAREGIVAPLPG
  EWKPCQDITGDIYYFNFANGQSMWDHPCDEHYRSLVIQERAKLSTSGAIKKKKKKKEKKD
  KKDRDPPKSSLALGSSLAPVHVPLGGLAPLRGLVDTPPSALRGSQSVSLGSSVESGRQLG
  ELMLPSQGLKTSAYTKGLLGSIYEDKTALSLLGLGEETNEEDEEESDNQSVHSSSEPLRN
  LHLDIGALGGDFEYEESLRTSQPEEKKDVSLDSDAAGPPTPCKPSSPGADSSLSSAVGKG
  RQGSGARPGLPEKEENEKSEPKICRNLVTPKADPTGSEPAKASEKEAPEDTVDAGEEGSR
  REEAAKEPKKKASALEEGSSDASQELEISEHMKEPQLSDSIASDPKSFHGLDFGFRSRIS
  EHLLDVDVLSPVLGGACRQAQQPLGIEDKDDSQSSQDELQSKQSKGLEERLSPPLPHEER
  AQSPPRSLATEEEPPQGPEGQPEWKEAEELGEDSAASLSLQLSLQREQAPSPPAACEKGK
  EQHSQAEELGPGQEEAEDPEEKVAVSPTPPVSPEVRSTEPVAPPEQLSEAALKAMEEAVA
  QVLEQDQRHLLESKQEKMQQLREKLCQEEEEEILRLHQQKEQSLSSLRERLQKAIEEEEA
  RMREEESQRLSWLRAQVQSSTQADEDQIRAEQEASLQKLREELESQQKAERASLEQKNRQ
  MLEQLKEEIEASEKSEQAALNAAKEKALQQLREQLEGERKEAVATLEKEHSAELERLCSS
  LEAKHREVVSSLQKKIQEAQQKEEAQLQKCLGQVEHRVHQKSYHVAGYEHELSSLLREKR
  QEVEGEHERRLDKMKEEHQQVMAKAREQYEAEERKQRAELLGHLTGELERLQRAHERELE
  TVRQEQHKRLEDLRRRHREQERKLQDLELDLETRAKDVKARLALLEVQEETARREKQQLL
  DVQRQVALKSEEATATHQQLEEAQKEHTHLLQSNQQLREILDELQARKLKLESQVDLLQA
  QSQQLQKHFSSLEAEAQKKQHLLREVTVEENNASPHFEPDLHIEDLRKSLGTNQTKEVSS
  SLSQSKEDLYLDSLSSHNVWHLLSAEGVALRSAKEFLVQQTRSMRRRQTALKAAQQHWRH
  ELASAQEVAKDPPGIKALEDMRKNLEKETRHLDEMKSAMRKGHNLLKKKEEKLNQLESSL
  WEEASDEGTLGGSPTKKAVTFDLSDMDSLSSESSESFSPPHREWWRQQRIDSTPSLTSRK
  IHGLSHSLRQISSQLSSVLSILDSLNPQSPPPLLASMPAQLPPRDPKSTPTPTYYGSLAR
  FSALSSATPTSTQWAWDSGQGPRLPSSVAQTVDDFLLEKWRKYFPSGIPLLSNSPTPLES
  RLGYMSASEQLRLLQHSHSQVPEAGSTTFQGIIEANRRWLERVKNDPRLPLFSSTPKPKA
  TLSLLQLGLDEHNRVKVYRF

• Sequence length: 1460

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
CEP164-related disorder	Likely pathogenic; Pathogenic	rs370034077, rs2044893024, rs2541982138	RCV004753300 RCV004753570 RCV003414300	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis 15	Pathogenic; Likely pathogenic	rs377597884, rs1269878493, rs1482717760, rs951827564, rs149195472, rs2041099865, rs370034077, rs1489883516, rs2042674113, rs2136318333, rs2041251614, rs1279037770, rs774951398, rs2136940605, rs2136139535, rs2047013877, rs746453731, rs749114363, rs1391874809, rs1317765862, rs2136466034, rs2136450623, rs2135912935, rs2136378484, rs200223232, rs767138852, rs1249398531, rs2541384185, rs1396789926, rs2541381382, rs747130165, rs2044893024, rs2047135088, rs193201363, rs780888941, rs1218292786, rs2047017160, rs2540654534, rs2541521563, rs747914869, rs2044759367, rs2540315938, rs2542695614, rs2541303541, rs1206116722, rs780373529, rs1395159421, rs1166097710, rs2542140157, rs2540461335, rs1222305871, rs2541982138, rs2046897646, rs2541189783, rs1313027554, rs762768517, rs2541615817, rs2540458943, rs2541944514, rs2541382558, rs2540954952, rs2540657675, rs1380436983, rs755923652, rs1375721511, rs2541567891, rs2541569380, rs771312858, rs2542636119, rs2541771087, rs2542174972, rs1565649749, rs387907309, rs387907310, rs387907311, rs145646425, rs764893412, rs778819060, rs1565455033, rs1565454034, rs1565582604, rs140611214, rs1459158279, rs373403222, rs963142616, rs562932233, rs2041038603, rs1323529877, rs2047400808, rs1402460878, rs752518735	RCV001314234 RCV001318691 RCV001319267 RCV001352557 RCV001361797 RCV001371877 RCV001372343 RCV001369400 RCV001536031 RCV001939395 RCV001994202 RCV002035194 RCV001934553 RCV001976113 RCV001942109 RCV001939502 RCV001879106 RCV001946926 RCV002038106 RCV001903908 RCV001883864 RCV001948653 RCV002015797 RCV002039923 RCV003052846 RCV003065349 RCV003085651 RCV003076066 RCV002510410 RCV003111940 RCV002572714 RCV002645766 RCV002623216 RCV002676044 RCV002700573 RCV002800166 RCV002756788 RCV002846545 RCV002837941 RCV002851384 RCV002889498 RCV002886398 RCV002914731 RCV002938986 RCV002993781 RCV002988558 RCV003025895 RCV003017500 RCV003033007 RCV003046906 RCV003052213 RCV005047563 RCV003534054 RCV003534284 RCV003531421 RCV003531462 RCV003531642 RCV003531807 RCV003531897 RCV003532543 RCV003532544 RCV003532399 RCV003648154 RCV003647719 RCV003647702 RCV003648726 RCV003648864 RCV003648898 RCV003813890 RCV003826144 RCV003810694 RCV000030833 RCV000030834 RCV000030835 RCV000030836 RCV000030837 RCV000692933 RCV000704782 RCV000701490 RCV003647802 RCV003768173 RCV000785135 RCV001069563 RCV001055384 RCV001195792 RCV001236565 RCV001247354 RCV001235812 RCV001280877 RCV001280878 RCV001299006 RCV001306862	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal dysplasia and retinal aplasia	Likely pathogenic	rs193201363	RCV005420436	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs747914869, rs2041025786	RCV004817942 RCV001074448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs2044759367	RCV005928653	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	25340510		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	27708425		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	34556108	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	34556108, 36273371	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	22863007, 25340510		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	24882706, 32055034, 34132027, 34499853, 36273371	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip	Cleft lip	Pubtator	36008388	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	39337513	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28565843		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	25340510		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHRONOPHTHISIS 15	Nephronophthisis	CLINVAR_DG	22863007		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 15	Nephronophthisis	UNIPROT_DG	22863007		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 15	Nephronophthisis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 15	Nephronophthisis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	24882706	Associate	★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	24882706, 34132027	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	ORPHANET_DG	22863007		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	28565843		★☆☆☆☆ Found in Text Mining only
Senior-Loken syndrome	Senior-Loken Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	Pubtator	34132027	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	19197159		★☆☆☆☆ Found in Text Mining only