PCNT (pericentrin)

Gene

• Entrez ID: 5116
• Gene name: Pericentrin
• Gene symbol: PCNT
• Synonyms (NCBI Gene): KEN, MOPD2, PCN, PCNT2, PCNTB, PCTN2, SCKL4
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif call

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35513449	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs112633352	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113342730	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113591604	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs115369710	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs119479061	G>T	Pathogenic-likely-pathogenic	5 prime UTR variant, upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs119479062	C>T	Pathogenic	Coding sequence variant, stop gained
rs119479063	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs119479064	C>T	Pathogenic	Coding sequence variant, stop gained
rs140398533	C>A,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141771795	G>C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs143511166	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs144869229	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147189224	A>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147358856	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148444313	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149623054	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs150436577	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150882711	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151020551	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs151325202	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs181690344	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs199566483	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs201185279	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs368199588	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs369195346	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs371917839	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs372175239	G>A,C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs377164652	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs387906928	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs397509366	A>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs397514033	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587779355	G>T	Pathogenic, likely-pathogenic	5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant
rs587784302	CAGACTTTGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784308	G>T	Pathogenic	Stop gained, coding sequence variant
rs587784312	CCTGGCAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784319	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784320	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587784321	C>T	Pathogenic	Stop gained, coding sequence variant
rs747058622	->G	Pathogenic	Frameshift variant, coding sequence variant
rs749426946	C>T	Pathogenic	Stop gained, coding sequence variant
rs755084205	G>A	Pathogenic	Splice acceptor variant
rs757577162	C>T	Pathogenic	Stop gained, coding sequence variant
rs757793925	C>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs774553297	A>C,G	Likely-pathogenic	Splice acceptor variant
rs777830265	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs797045875	AAAG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs797045879	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312917	C>T	Pathogenic	Stop gained, coding sequence variant
rs869312929	->GGCCC	Pathogenic	Frameshift variant, coding sequence variant
rs1064793985	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691484	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant
rs1217566598	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1315359733	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1359618876	G>T	Pathogenic	Stop gained, coding sequence variant
rs1369869782	A>-,AA	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1474939581	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555954069	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555954786	A>G	Pathogenic	Splice acceptor variant
rs1555956600	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555959737	ATGAAATTATGTTGTCTGTAGGTAAAACACAATCTAATTGAAGACCACCAGAA>-	Likely-pathogenic	Intron variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant
rs1555962301	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555973872	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555974965	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555993038	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555999948	G>T	Pathogenic	Stop gained, coding sequence variant
rs1569178877	G>A	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1569239749	G>C	Pathogenic	Missense variant, coding sequence variant
rs1569249386	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1601176084	AGA>GGCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601795448	->G	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016284	hsa-miR-193b-3p	Microarray	20304954
MIRT020608	hsa-miR-155-5p	Proteomics	18668040
MIRT028428	hsa-miR-30a-5p	Proteomics	18668040
MIRT029023	hsa-miR-26b-5p	Microarray	19088304
MIRT046776	hsa-miR-222-3p	CLASH	23622248
MIRT046166	hsa-miR-30b-5p	CLASH	23622248
MIRT044148	hsa-miR-30e-5p	CLASH	23622248
MIRT041629	hsa-miR-484	CLASH	23622248
MIRT040017	hsa-miR-615-3p	CLASH	23622248
MIRT622904	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622903	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT622902	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT622901	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT622900	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622899	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622898	hsa-miR-3148	HITS-CLIP	23824327
MIRT622896	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT622895	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622904	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622903	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT622902	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT622901	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT622900	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622899	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622898	hsa-miR-3148	HITS-CLIP	23824327
MIRT622897	hsa-miR-6124	HITS-CLIP	23824327
MIRT622896	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT622895	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622904	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622903	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT622902	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT622901	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT622900	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622899	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622898	hsa-miR-3148	HITS-CLIP	23824327
MIRT622896	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT622895	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622904	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622903	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT622902	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT622901	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT622900	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622899	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622898	hsa-miR-3148	HITS-CLIP	23824327
MIRT622897	hsa-miR-6124	HITS-CLIP	23824327
MIRT622896	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT622895	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT2063054	hsa-miR-1827	CLIP-seq
MIRT2063055	hsa-miR-2392	CLIP-seq
MIRT2063056	hsa-miR-3134	CLIP-seq
MIRT2063057	hsa-miR-3612	CLIP-seq
MIRT2063058	hsa-miR-3622a-5p	CLIP-seq
MIRT2063059	hsa-miR-432	CLIP-seq
MIRT2063060	hsa-miR-4423-3p	CLIP-seq
MIRT2063061	hsa-miR-4437	CLIP-seq
MIRT2063062	hsa-miR-4443	CLIP-seq
MIRT2063063	hsa-miR-4476	CLIP-seq
MIRT2063064	hsa-miR-4533	CLIP-seq
MIRT2063065	hsa-miR-4685-5p	CLIP-seq
MIRT2063066	hsa-miR-650	CLIP-seq
MIRT2063067	hsa-miR-940	CLIP-seq
MIRT2589113	hsa-miR-2861	CLIP-seq
MIRT2589114	hsa-miR-3974	CLIP-seq
MIRT2589115	hsa-miR-493	CLIP-seq
MIRT2589113	hsa-miR-2861	CLIP-seq
MIRT2589114	hsa-miR-3974	CLIP-seq
MIRT2589115	hsa-miR-493	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	18955030
GO:0005515	Function	Protein binding	IPI	12812986, 15094396, 16980960, 18955030, 20466722, 22797915, 24816561, 25503564, 26496610, 26638075
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	18955030, 19543530, 20186884, 21399614, 22797915, 27137183
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	24421332
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0007020	Process	Microtubule nucleation	IBA
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0007052	Process	Mitotic spindle organization	IMP	25220058
GO:0007165	Process	Signal transduction	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0034451	Component	Centriolar satellite	IDA	22797915
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060271	Process	Cilium assembly	IDA	15337773
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	22797915

Other IDs

• MIM: 605925
• HGNC: 16068
• e!Ensembl: ENSG00000160299

Protein

• UniProt ID: O95613
• Protein name: Pericentrin (Kendrin) (Pericentrin-B)
• Protein function: Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an inte
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10495	PACT_coil_coil	3138 → 3216	Pericentrin-AKAP-450 domain of centrosomal targeting protein	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues tested, including placenta, liver, kidney and thymus. {ECO:0000269|PubMed:10823944}.
• Sequence:

  MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKED
  SALCGGGDICKSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQQKQVNDHPPEQCGMF
  TVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPE
  QRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQ
  AVHGLELEALRLSLSNMHTAQLELTQANLQKEKETALTELREMLNSRRAQELALLQSRQQ
  HELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLEN
  LRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLR
  EDLQSEHGRCLEDLEFKFKESEKEKQLELENLQASYEDLKAQSQEEIRRLWSQLDSARTS
  RQELSELHEQLLARTSRVEDLEQLKQREKTQHESELEQLRIYFEKKLRDAEKTYQEDLTL
  LQQRLQGAREDALLDSVEVGLSCVGLEEKPEKGRKDHVDELEPERHKESLPRFQAELEES
  HRHQLEALESPLCIQHEGHVSDRCCVETSALGHEWRLEPSEGHSQELPWVHLQGVQDGDL
  EADTERAARVLGLETEHKVQLSLLQTELKEEIELLKIENRNLYGKLQHETRLKDDLEKVK
  HNLIEDHQKELNNAKQKTELMKQEFQRKETDWKVMKEELQREAEEKLTLMLLELREKAES
  EKQTIINKFELREAEMRQLQDQQAAQILDLERSLTEQQGRLQQLEQDLTSDDALHCSQCG
  REPPTAQDGELAALHVKEDCALQLMLARSRFLEERKEITEKFSAEQDAFLQEAQEQHARE
  LQLLQERHQQQLLSVTAELEARHQAALGELTASLESKQGALLAARVAELQTKHAADLGAL
  ETRHLSSLDSLESCYLSEFQTIREEHRQALELLRADFEEQLWKKDSLHQTILTQELEKLK
  RKHEGELQSVRDHLRTEVSTELAGTVAHELQGVHQGEFGSEKKTALHEKEETLRLQSAQA
  QPFHQEEKESLSLQLQKKNHQVQQLKDQVLSLSHEIEECRSELEVLQQRRERENREGANL
  LSMLKADVNLSHSERGALQDALRRLLGLFGETLRAAVTLRSRIGERVGLCLDDAGAGLAL
  STAPALEETWSDVALPELDRTLSECAEMSSVAEISSHMRESFLMSPESVRECEQPIRRVF
  QSLSLAVDGLMEMALDSSRQLEEARQIHSRFEKEFSFKNEETAQVVRKHQELLECLKEES
  AAKAELALELHKTQGTLEGFKVETADLKEVLAGKEDSEHRLVLELESLRRQLQQAAQEQA
  ALREECTRLWSRGEATATDAEAREAALRKEVEDLTKEQSETRKQAEKDRSALLSQMKILE
  SELEEQLSQHRGCAKQAEAVTALEQQVASLDKHLRNQRQFMDEQAAEREHEREEFQQEIQ
  RLEGQLRQAAKPQPWGPRDSQQAPLDGEVELLQQKLREKLDEFNELAIQKESADRQVLMQ
  EEEIKRLEEMNINIRKKVAQLQEEVEKQKNIVKGLEQDKEVLKKQQMSSLLLASTLQSTL
  DAGRCPEPPSGSPPEGPEIQLEVTQRALLRRESEVLDLKEQLEKMKGDLESKNEEILHLN
  LKLDMQNSQTAVSLRELEEENTSLKVIYTRSSEIEELKATIENLQENQKRLQKEKAEEIE
  QLHEVIEKLQHELSLMGPVVHEVSDSQAGSLQSELLCSQAGGPRGQALQGELEAALEAKE
  ALSRLLADQERRHSQALEALQQRLQGAEEAAELQLAELERNVALREAEVEDMASRIQEFE
  AALKAKEATIAERNLEIDALNQRKAAHSAELEAVLLALARIRRALEQQPLAAGAAPPELQ
  WLRAQCARLSRQLQVLHQRFLRCQVELDRRQARRATAHTRVPGAHPQPRMDGGAKAQVTG
  DVEASHDAALEPVVPDPQGDLQPVLVTLKDAPLCKQEGVMSVLTVCQRQLQSELLLVKNE
  MRLSLEDGGKGKEKVLEDCQLPKVDLVAQVKQLQEKLNRLLYSMTFQNVDAADTKSLWPM
  ASAHLLESSWSDDSCDGEEPDISPHIDTCDANTATGGVTDVIKNQAIDACDANTTPGGVT
  DVIKNWDSLIPDEMPDSPIQEKSECQDMSLSSPTSVLGGSRHQSHTAEAGPRKSPVGMLD
  LSSWSSPEVLRKDWTLEPWPSLPVTPHSGALSLCSADTSLGDRADTSLPQTQGPGLLCSP
  GVSAAALALQWAESPPADDHHVQRTAVEKDVEDFITTSFDSQETLSSPPPGLEGKADRSE
  KSDGSGFGARLSPGSGGPEAQTAGPVTPASISGRFQPLPEAMKEKEVRPKHVKALLQMVR
  DESHQILALSEGLAPPSGEPHPPRKEDEIQDISLHGGKTQEVPTACPDWRGDLLQVVQEA
  FEKEQEMQGVELQPRLSGSDLGGHSSLLERLEKIIREQGDLQEKSLEHLRLPDRSSLLSE
  IQALRAQLRMTHLQNQEKLQHLRTALTSAEARGSQQEHQLRRQVELLAYKVEQEKCIAGD
  LQKTLSEEQEKANSVQKLLAAEQTVVRDLKSDLCESRQKSEQLSRSLCEVQQEVLQLRSM
  LSSKENELKAALQELESEQGKGRALQSQLEEEQLRHLQRESQSAKALEELRASLETQRAQ
  SSRLCVALKHEQTAKDNLQKELRIEHSRCEALLAQERSQLSELQKDLAAEKSRTLELSEA
  LRHERLLTEQLSQRTQEACVHQDTQAHHALLQKLKEEKSRVVDLQAMLEKVQQQALHSQQ
  QLEAEAQKHCEALRREKEVSATLKSTVEALHTQKRELRCSLEREREKPAWLQAELEQSHP
  RLKEQEGRKAARRSAEARQSPAAAEQWRKWQRDKEKLRELELQRQRDLHKIKQLQQTVRD
  LESKDEVPGSRLHLGSARRAAGSDADHLREQQRELEAMRQRLLSAARLLTSFTSQAVDRT
  VNDWTSSNEKAVMSLLHTLEELKSDLSRPTSSQKKMAAELQFQFVDVLLKDNVSLTKALS
  TVTQEKLELSRAVSKLEKLLKHHLQKGCSPSRSERSAWKPDETAPQSSLRRPDPGRLPPA
  ASEEAHTSNVKMEKLYLHYLRAESFRKALIYQKKYLLLLIGGFQDSEQETLSMIAHLGVF
  PSKAERKITSRPFTRFRTAVRVVIAILRLRFLVKKWQEVDRKGALAQGKAPRPGPRARQP
  QSPPRTRESPPTRDVPSGHTRDPARGRRLAAAASPHSGGRATPSPNSRLERSLTASQDPE
  HSLTEYIHHLEVIQQRLGGVLPDSTSKKSCHPMIKQ

• Sequence length: 3336

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
Aggrephagy

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
Familial cancer of breast	Likely pathogenic	rs369066052	RCV005931986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs760664460	RCV005912605	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic; Pathogenic	rs760664460, rs746584417, rs2148093265, rs755084205, rs915028258, rs2148115298, rs2147771579, rs2147940284, rs1174601545, rs2146626308, rs587779355, rs2147504920, rs764602074, rs181690344, rs587784302, rs587784308, rs369195346, rs587784312, rs587784319, rs587784320, rs587784321, rs934324267, rs369066052, rs151020551, rs119479061, rs397509366, rs397514033, rs119479062, rs1601795448, rs119479063, rs119479064, rs774148938, rs797045875, rs797045879, rs869312917, rs869312929, rs2518083790, rs2518545084, rs2518223728, rs747058622, rs2518099526, rs2518828818, rs2518262867, rs2518829736, rs2518995848, rs751242426, rs2517955419, rs984142085, rs2518128693, rs1226165772, rs1431884649, rs1338994910, rs747483671, rs767150246, rs947162006, rs766205107, rs1289448496, rs2518077360, rs1569239749, rs2148093442, rs387906928, rs1131691484, rs1555954786, rs1555956600, rs1555959737, rs1555962301, rs1359618876, rs1315359733, rs757577162, rs1474939581, rs1555999948, rs757793925, rs1369869782, rs1555993038, rs1569178877, rs1569249386, rs767416279, rs2085816295, rs750764149, rs2518529289, rs2086458638, rs1394951912, rs2147503631, rs758298374, rs2084270803, rs2086794191, rs2087769756, rs1569201595, rs1290073918	RCV005023124 RCV003147628 RCV001580611 RCV001784805 RCV001784806 RCV001784808 RCV005032740 RCV001784810 RCV003444395 RCV001806300 RCV000115045 RCV001844423 RCV005032007 RCV000147089 RCV000147105 RCV000147141 RCV000147151 RCV000147153 RCV000147209 RCV000147229 RCV000147233 RCV002471877 RCV003485787 RCV002051822 RCV000004968 RCV000004969 RCV000004970 RCV000004971 RCV000004972 RCV000004973 RCV000004975 RCV005025890 RCV000193825 RCV000193571 RCV003237344 RCV002500682 RCV003129566 RCV003135604 RCV003153239 RCV001782766 RCV003326719 RCV003237397 RCV003237398 RCV003237399 RCV003237400 RCV005860373 RCV003405197 RCV003445338 RCV004596597 RCV005030150 RCV005030147 RCV005030200 RCV005030231 RCV005407262 RCV005030295 RCV005038540 RCV004577930 RCV003993700 RCV000023498 RCV000023499 RCV000023500 RCV001261590 RCV000499620 RCV000501524 RCV000503423 RCV000502434 RCV000500174 RCV000501456 RCV000500903 RCV000500360 RCV000501426 RCV003147495 RCV000033163 RCV000601510 RCV000680060 RCV000758566 RCV000761324 RCV001170009 RCV001196169 RCV001253402 RCV001255774 RCV001255760 RCV001374748 RCV001374750 RCV001374751 RCV001263465 RCV001263466 RCV001263464 RCV001265636 RCV005057835	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PCNT-related disorder	Pathogenic; Likely pathogenic	rs766116729, rs760423461, rs760664460, rs778163048, rs1450352574, rs1266152010, rs138036524, rs587784312, rs587784320, rs369066052, rs774148938, rs751242426, rs141816832, rs2518620363, rs908769563, rs778234498, rs755987047, rs767150246, rs766205107, rs2518971757, rs757577162, rs757793925, rs1290073918	RCV004741094 RCV003421035 RCV003405627 RCV004739192 RCV003399607 RCV003407952 RCV004728989 RCV004739471 RCV004739473 RCV004741297 RCV004725324 RCV003408302 RCV003427857 RCV003400338 RCV004738809 RCV004738868 RCV004738894 RCV004738891 RCV004738895 RCV004738952 RCV003983338 RCV003942646 RCV003392344 RCV004741169	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic	rs760664460	RCV005912604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephalic osteodysplastic primordial dwarfism	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal cyst	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26298006		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	24485834		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	17884020, 19191256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	17884020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17884020, 19191256, 19448849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19448849	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blast Crisis	Blast crisis	Pubtator	19563513	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	15858613		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14506732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	10823944	Associate	★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37211383	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	34234876	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37211383	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28849826		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23979692		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	30413633		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	30413633, 32367296	Associate	★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	30054381		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17143621		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	20062006		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	17884020		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	19448849	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21270239, 31105833		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	35806251	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21270239, 31105833		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37033211	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12624742, 23979692, 30100262, 30205034		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	30205034, 35476505	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	18174396, 20522431		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	LHGDN	18174396		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	18521840		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	19643772, 19839044, 20358609, 21270239, 21567919, 22821869, 24106199		★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	29102329		★☆☆☆☆ Found in Text Mining only
FRONTOMETAPHYSEAL DYSPLASIA 1	Frontometaphyseal Dysplasia	BEFREE	29102329		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Growth Disorders	Growth disorder	Pubtator	34284742, 37234811	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	35806251	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	26231886		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	30413633, 37234811	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	30413633	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	37234811	Associate	★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	32557621	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15044920		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24648314		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19448849, 19937158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	19448849, 19937158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	14506732		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28849826		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24885752, 28665106, 28735175, 30622595, 9731511		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	17236200		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	17884020		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	17664024		★☆☆☆☆ Found in Text Mining only
Microcephalic osteodysplastic primordial dwarfism type II	Microcephalic Osteodysplastic Primordial Dwarfism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephalic Osteodysplastic Primordial Dwarfism, Type II	Microcephalic osteodysplastic primordial dwarfism	GENOMICS_ENGLAND_DG	15368497, 18174396, 19839044, 21270239		★☆☆☆☆ Found in Text Mining only
Microcephalic Osteodysplastic Primordial Dwarfism, Type II	Microcephalic osteodysplastic primordial dwarfism	BEFREE	18174396, 19643772, 19839044, 24106199, 24705347, 24748105, 25220058, 25291638, 26231886, 28409412, 30531648, 31311520, 31510961		★☆☆☆☆ Found in Text Mining only
Microcephalic Osteodysplastic Primordial Dwarfism, Type II	Microcephalic osteodysplastic primordial dwarfism	ORPHANET_DG	18174396		★☆☆☆☆ Found in Text Mining only
Microcephalic Osteodysplastic Primordial Dwarfism, Type II	Microcephalic osteodysplastic primordial dwarfism	CLINVAR_DG	19643772		★☆☆☆☆ Found in Text Mining only
Microcephalic Osteodysplastic Primordial Dwarfism, Type II	Microcephalic osteodysplastic primordial dwarfism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23583796, 25220058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	34068194	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GENOMICS_ENGLAND_DG	15368497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	23522059	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	29102329		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17143621, 28735175, 31638766		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	19191256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteolysis	Osteolysis	Pubtator	31311520	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28849826		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12473081		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism 1	Pituitary dwarfism	Pubtator	25485589, 30413633, 39597091	Associate	★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	BEFREE	18174396, 20522431		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11280789		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	PSYGENET_DG	19191256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	17884020, 19191256, 19448849, 19937158, 30531648, 30801977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19191256, 19937158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19448849	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	18157127, 19546241, 19839044, 20522431, 21633703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seckel syndrome	Seckel Syndrome	ORPHANET_DG	19643772		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seckel syndrome	Seckel Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seckel syndrome	Seckel Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seckel syndrome 1	Seckel Syndrome	CTD_human_DG	18157127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seckel syndrome 1	Seckel syndrome	Pubtator	18157127, 19643772, 25485589, 34068194, 39597091	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME 2	Seckel Syndrome	CTD_human_DG	18174396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Slipped Capital Femoral Epiphyses	Slipped Capital Femoral Epiphyses	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	28193732		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	19448849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	19448849, 19937158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	24973050, 30413633	Associate	★☆☆☆☆ Found in Text Mining only