BLM (BLM RecQ like helicase)

Gene

• Entrez ID: 641
• Gene name: BLM RecQ like helicase
• Gene symbol: BLM
• Synonyms (NCBI Gene): BS, MGRISCE1, RECQ2, RECQL2, RECQL3
• Chromosome: 15
• Chromosome location: 15q26.1
• Summary: The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801256	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs12720097	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs28377085	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs35224686	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant
rs56257041	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, synonymous variant, coding sequence variant
rs113993962	ATCTGA>TAGATTC	Pathogenic	Coding sequence variant, frameshift variant
rs137853153	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs138831180	T>G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs138943954	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, upstream transcript variant, missense variant, genic upstream transcript variant
rs139610577	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140382474	A>C,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs140524886	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs141503266	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs142551229	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs144706057	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs145310008	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs146077918	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148237075	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs148545569	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs148969222	G>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant, genic downstream transcript variant, intron variant
rs149754073	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150421256	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs181161119	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs183176301	T>C,G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs184657475	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs191789336	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199927688	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs200389141	C>A,T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs200850440	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs201231857	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, initiator codon variant
rs201427280	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs367543012	->T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs367543013	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs367543014	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs367543019	->A	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs367543024	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs367543026	TT>-,T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, stop gained, 5 prime UTR variant
rs367543028	C>T	Pathogenic	Coding sequence variant, stop gained
rs367543029	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs367543031	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs367543033	TT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs367543035	CAA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, inframe indel, coding sequence variant, stop gained, 5 prime UTR variant
rs367543036	G>T	Likely-pathogenic	Splice donor variant
rs367543043	A>-,AA	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs372668612	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs373525781	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs375632163	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, synonymous variant
rs527291754	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs576199850	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs587778105	GAA>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, inframe deletion
rs587779884	C>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587779886	T>-	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs587779888	G>C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs587783037	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, intron variant
rs730881428	T>G	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs730881429	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs745538883	A>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs745807085	CA>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs746195311	G>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs746244182	TA>-	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs747281324	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs747341586	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs747498968	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs750293380	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs750667270	ATC>-	Pathogenic	Inframe deletion, coding sequence variant
rs754203833	C>G	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs762354041	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs762804291	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs764086459	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs765061205	GTAAACTAG>-	Likely-pathogenic	5 prime UTR variant, intron variant, splice donor variant, genic upstream transcript variant, coding sequence variant
rs770311534	A>T	Pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant, stop gained, coding sequence variant
rs770751979	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs772785079	->G	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs774368488	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs774777021	AACA>-	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs780379121	G>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs781221411	->T	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs786204471	->AAAT	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs786204524	AAAGA>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs797045115	->TATCA	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs864622347	TA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs865866188	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs886051551	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886051553	A>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs897262346	G>C,T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs918752814	C>T	Pathogenic	5 prime UTR variant, upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs960430492	TT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1057516253	AT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516261	AGGAA>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516297	->T	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant
rs1057516361	TTAGCAGCCAGCAAAT>-	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1057516452	CGTTACA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516547	A>-	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516593	T>C	Likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, initiator codon variant, missense variant
rs1057516700	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1057516719	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516728	C>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, genic downstream transcript variant
rs1057516774	G>A,T	Uncertain-significance, likely-pathogenic	Intron variant, stop gained, genic downstream transcript variant, missense variant, coding sequence variant
rs1057516956	GGAAGGTCGGCCAA>-	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1057516964	G>A	Pathogenic-likely-pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant
rs1057517030	TG>-	Pathogenic, likely-pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, inframe indel
rs1057517154	->A	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057517229	CTGA>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant
rs1057517266	AGCA>GGC	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1057517359	->CTTA	Likely-pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, inframe indel
rs1057517431	A>-	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1057517432	C>-	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1060500652	GTAAGTTAT>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1170049553	CA>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant
rs1179486581	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1215497457	A>C	Likely-pathogenic	Initiator codon variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs1217879599	T>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant
rs1231598990	G>A	Likely-pathogenic	Splice acceptor variant
rs1234064430	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1245531016	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1248548542	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1275708646	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1309932713	ATGGGGA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1319786857	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1356090839	G>A	Pathogenic	Genic upstream transcript variant, stop gained, upstream transcript variant, coding sequence variant
rs1400231534	T>A	Pathogenic	Coding sequence variant, stop gained
rs1477193473	G>A,T	Uncertain-significance, pathogenic	Stop gained, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1486692931	C>-	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555418352	TT>-	Likely-pathogenic	Stop gained, upstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs1555418380	C>-	Likely-pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1555418701	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1555419696	G>A	Likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1555419704	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1555419710	G>-	Pathogenic	Coding sequence variant, frameshift variant, initiator codon variant, intron variant, genic upstream transcript variant
rs1555419724	A>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555419742	C>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555419748	G>A	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1555419779	A>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs1555419806	->C	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1555419829	T>-	Likely-pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, initiator codon variant, genic upstream transcript variant
rs1555419862	->G	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1555419873	ACAG>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1555419889	T>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1555419902	->A	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1555419961	T>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1555419980	ACTG>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1555420142	A>G	Likely-pathogenic	Splice acceptor variant
rs1555420602	AT>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1555420842	->GA	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1555420844	->CT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555420871	G>A	Likely-pathogenic	Splice acceptor variant
rs1555420917	G>T	Likely-pathogenic	Splice donor variant
rs1555423062	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555423119	AT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555423753	AA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555424298	C>-	Likely-pathogenic	Intron variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1555424305	G>-	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555424311	T>-	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555424368	G>A	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1555424372	TT>-	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555424376	A>-	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555424890	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555425062	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555425063	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555425074	G>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1555425080	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1567035745	GATGTGATTTGCAT>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1567036566	G>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, genic upstream transcript variant
rs1567036579	TACATTCAACTGAGAAAGTTCCATGTATTGAATTTGATGATGATGATTAT>-	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, genic upstream transcript variant
rs1567038003	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1567040469	A>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, intron variant, coding sequence variant
rs1567045130	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1567045531	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567052178	GA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567052324	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1567053170	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567063125	T>AA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1567066891	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596218981	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1596221020	G>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, genic upstream transcript variant
rs1596223715	G>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1596228957	->GAAACTTT	Pathogenic	Coding sequence variant, intron variant, stop gained, genic upstream transcript variant
rs1596229894	->T	Pathogenic	Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant
rs1596230118	G>T	Pathogenic	Coding sequence variant, upstream transcript variant, stop gained, genic upstream transcript variant
rs1596232266	A>T	Pathogenic	Coding sequence variant, stop gained
rs1596235791	TCTGAC>GATATGT	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1596250255	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1596250472	AA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596252279	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1596259860	CACT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596267627	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, intron variant
rs1596268270	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016590	hsa-miR-193b-3p	Microarray	20304954
MIRT024921	hsa-miR-215-5p	Microarray	19074876
MIRT026815	hsa-miR-192-5p	Microarray	19074876
MIRT2181666	hsa-miR-105	CLIP-seq
MIRT2181667	hsa-miR-3671	CLIP-seq
MIRT2181668	hsa-miR-522	CLIP-seq
MIRT2181669	hsa-miR-548ac	CLIP-seq
MIRT2181670	hsa-miR-548ae	CLIP-seq
MIRT2181671	hsa-miR-548aj	CLIP-seq
MIRT2181672	hsa-miR-548am	CLIP-seq
MIRT2181673	hsa-miR-548d-3p	CLIP-seq
MIRT2181674	hsa-miR-548x	CLIP-seq
MIRT2181675	hsa-miR-548z	CLIP-seq
MIRT2181676	hsa-miR-607	CLIP-seq
MIRT2485245	hsa-miR-338-3p	CLIP-seq
MIRT2485246	hsa-miR-361-3p	CLIP-seq
MIRT2485247	hsa-miR-4310	CLIP-seq
MIRT2485248	hsa-miR-4729	CLIP-seq
MIRT2485245	hsa-miR-338-3p	CLIP-seq
MIRT2485246	hsa-miR-361-3p	CLIP-seq
MIRT2485247	hsa-miR-4310	CLIP-seq
MIRT2485248	hsa-miR-4729	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Activation	17268063

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000079	Process	Regulation of cyclin-dependent protein serine/threonine kinase activity	IMP	15604258
GO:0000166	Function	Nucleotide binding	IEA
GO:0000228	Component	Nuclear chromosome	IDA	23509288
GO:0000400	Function	Four-way junction DNA binding	IDA	11735402, 20639533, 25901030
GO:0000403	Function	Y-form DNA binding	IDA	11735402
GO:0000405	Function	Bubble DNA binding	IDA	11433031, 11735402
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IDA	11735402
GO:0000723	Process	Telomere maintenance	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	23543748
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	NAS	11309417
GO:0000729	Process	DNA double-strand break processing	IDA	21325134
GO:0000781	Component	Chromosome, telomeric region	IDA	10779560
GO:0000800	Component	Lateral element	IDA	10728666
GO:0002039	Function	P53 binding	IPI	11781842
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	24816114
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IDA	9388193, 12181313, 12818200, 17878217, 19734539, 24816114, 25901030
GO:0003678	Function	DNA helicase activity	IMP	21325134
GO:0003697	Function	Single-stranded DNA binding	IDA	12818200, 20639533
GO:0004386	Function	Helicase activity	IDA	10871376
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	10728666, 10825162, 11309417, 11919194, 12181313, 12975363, 14688284, 15229185, 15775963, 15965237, 16030011, 16864798, 17961633, 20360068, 20711169, 20826342, 21240188, 21325134, 23509288, 23708797, 24126761, 26496610, 28506294, 35271311
GO:0005524	Function	ATP binding	IDA	24816114, 25901030
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9388480, 11500040, 31772289
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23543748
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	ISS
GO:0005694	Component	Chromosome	IBA
GO:0005730	Component	Nucleolus	IDA	10779560
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	ISS
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	NAS	7585968
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	NAS	7585968, 10728666
GO:0006974	Process	DNA damage response	IDA	23509288
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	12818200
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IDA	11309417
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	10359700, 24816114, 25901030
GO:0008270	Function	Zinc ion binding	IDA	24816114, 25901030
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0009378	Function	Four-way junction helicase activity	IDA	11433031, 11735402, 12818200, 25901030
GO:0010165	Process	Response to X-ray	IDA	11309417
GO:0016363	Component	Nuclear matrix	IDA	11309417
GO:0016605	Component	PML body	IDA	10779560
GO:0016605	Component	PML body	IDA	10728666
GO:0016787	Function	Hydrolase activity	IEA
GO:0016818	Function	Hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031297	Process	Replication fork processing	IDA	17115688
GO:0031297	Process	Replication fork processing	IEA
GO:0031422	Component	RecQ family helicase-topoisomerase III complex	IPI	24984776
GO:0032201	Process	Telomere maintenance via semi-conservative replication	TAS
GO:0032392	Process	DNA geometric change	IDA	11735402
GO:0032392	Process	DNA geometric change	IEA
GO:0032392	Process	DNA geometric change	ISS
GO:0032991	Component	Protein-containing complex	IDA	10359700
GO:0042802	Function	Identical protein binding	IDA	10359700
GO:0042803	Function	Protein homodimerization activity	IDA	28228481
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0043138	Function	3'-5' DNA helicase activity	IDA	9388193
GO:0043138	Function	3'-5' DNA helicase activity	IEA
GO:0043138	Function	3'-5' DNA helicase activity	TAS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11781842
GO:0045910	Process	Negative regulation of DNA recombination	IEA
GO:0045910	Process	Negative regulation of DNA recombination	IMP	9671747
GO:0046872	Function	Metal ion binding	IEA
GO:0051259	Process	Protein complex oligomerization	IDA	28228481
GO:0051260	Process	Protein homooligomerization	IDA	28228481
GO:0051782	Process	Negative regulation of cell division	IMP	11781842
GO:0051880	Function	G-quadruplex DNA binding	IDA	11433031, 11735402
GO:0061749	Function	Forked DNA-dependent helicase activity	IDA	11735402, 25901030
GO:0061820	Process	Telomeric D-loop disassembly	IDA	16030011, 19734539
GO:0061821	Function	Telomeric D-loop binding	IDA	19734539
GO:0061849	Function	Telomeric G-quadruplex DNA binding	IDA	19734539
GO:0071139	Process	Resolution of DNA recombination intermediates	IDA	23543748
GO:0071479	Process	Cellular response to ionizing radiation	IDA	23509288
GO:0072711	Process	Cellular response to hydroxyurea	IDA	23509288
GO:0072757	Process	Cellular response to camptothecin	IDA	23509288
GO:0090656	Process	T-circle formation	TAS	27918544
GO:1905773	Function	8-hydroxy-2'-deoxyguanosine DNA binding	IDA	19734539
GO:1990814	Function	DNA/DNA annealing activity	IDA	17878217

Other IDs

• MIM: 604610
• HGNC: 1058
• e!Ensembl: ENSG00000197299

Protein

• UniProt ID: P54132
• Protein name: RecQ-like DNA helicase BLM (EC 5.6.2.4) (Bloom syndrome protein) (DNA 3'-5' helicase BLM) (DNA helicase, RecQ-like type 2) (RecQ2) (RecQ protein-like 3)
• Protein function: ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction (PubMed:24816114, PubMed:25901030, PubMed:9388193, PubMed:9765292). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:2350928
• PDB: 2KV2, 2MH9, 2RRD, 3WE2, 3WE3, 4CDG, 4CGZ, 4O3M, 5LUP, 5MK5, 5U6K, 7AUC, 7AUD, 7XUW, 7XV0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16202	BLM_N	1 → 367	N-terminal region of Bloom syndrome protein	Family
  PF08072	BDHCT	372 → 411	BDHCT (NUC031) domain	Domain
  PF16204	BDHCT_assoc	425 → 647	BDHCT-box associated domain on Bloom syndrome protein	Family
  PF00270	DEAD	669 → 841	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	874 → 984	Helicase conserved C-terminal domain	Family
  PF16124	RecQ_Zn_bind	995 → 1067	RecQ zinc-binding	Domain
  PF09382	RQC	1071 → 1198	RQC domain	Domain
  PF00570	HRDC	1215 → 1282	HRDC domain	Domain

• Sequence:

  MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVL
  RNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVC
  TTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRV
  STAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDD
  GPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDF
  VPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTD
  CDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD
  ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFS
  ATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASI
  NDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL
  SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFH
  KKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLI
  VDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTL
  ENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD
  ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRE
  CDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRF
  VIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHF
  NNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDD
  VKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRH
  NAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK
  QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL
  LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP
  VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSS
  SASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS

• Sequence length: 1417

Pathways

KEGG:

Homologous recombination
Fanconi anemia pathway

Reactome:

Processive synthesis on the C-strand of the telomere
SUMOylation of DNA damage response and repair proteins
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

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
BLM-related disorder	Likely pathogenic; Pathogenic	rs1567052324, rs200389141, rs113993962, rs367543043, rs373525781, rs1319786857, rs367543024, rs367543014, rs750293380, rs747498968	RCV004728692 RCV003952547 RCV004745147 RCV003912592 RCV003409758 RCV003403246 RCV003944888 RCV003914913 RCV004745617 RCV004726779	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bloom syndrome	Likely pathogenic; Pathogenic	rs772230310, rs1567052324, rs1444037196, rs1299272913, rs748186908, rs2151147628, rs2151147666, rs2151147939, rs2151149553, rs1358266880, rs2151158316, rs2151158332, rs367543038, rs2151158659, rs2151160492, rs2151163995, rs2151164019, rs1412341951, rs1896651394, rs2151184585, rs2151184759, rs1472603091, rs2151194859, rs1897234496, rs2151194897, rs1897350204, rs2151198382, rs2151198402, rs2151146787, rs2151194257, rs2151145090, rs2151158046, rs2151147279, rs200389141, rs587779884, rs587779886, rs2151158428, rs2151158321, rs2151148137, rs2151162486, rs1897236255, rs2151159067, rs2151158165, rs2151145092, rs2151184555, rs1456964727, rs2151165798, rs2151162445, rs2151149598, rs2151152131, rs2151147969, rs367543020, rs2151152104, rs2151146678, rs2151164052, rs2151178019, rs2151147654, rs2151184718, rs2151158979, rs2151179928, rs2151166250, rs1060503989, rs1895534883, rs2151159180, rs2151198369, rs2151148207, rs749512704, rs2151147261, rs2151158629, rs2151198389, rs2151162501, rs2151178044, rs150421256, rs2151194158, rs1897239335, rs2151158869, rs2151157115, rs2151198391, rs2151166065, rs2151179952, rs2151147765, rs2151158091, rs2151199939, rs1164844135, rs1896712920, rs2151147614, rs766386787, rs1489224386, rs2151198261, rs753973474, rs2151165848, rs2151198266, rs2151164000, rs757841012, rs1188753950, rs887921909, rs2151160567, rs2151163791, rs369583279, rs587783037, rs2151187381, rs2151158066, rs2505441268, rs2505566477, rs367543034, rs771325448, rs2505546989, rs1409782833, rs2505392993, rs730881428, rs766861351, rs2505428800, rs2505429817, rs1555420917, rs2505441027, rs779027186, rs367543026, rs786204524, rs747281324, rs786204471, rs780379121, rs2151187323, rs1567062835, rs865899765, rs2505391788, rs2505392601, rs770592505, rs779934502, rs28385026, rs2505441922, rs1897349804, rs776826506, rs768777000, rs150631940, rs113993962, rs367543035, rs137853153, rs797045115, rs2505501577, rs2505517110, rs757148522, rs2505425503, rs2505447070, rs2505534802, rs2505549800, rs2151198423, rs2505423919, rs2505549793, rs2505392796, rs2505423950, rs2505399914, rs897262346, rs746857727, rs1471344734, rs1214154774, rs2151199906, rs2505385147, rs780890722, rs2505435127, rs2505434937, rs2505446827, rs2505567330, rs2505547324, rs2505525020, rs2505524806, rs2505434577, rs1369220541, rs1895978539, rs538728271, rs2505393108, rs2505457501, rs2505427409, rs2151157127, rs2505524868, rs2505547946, rs2505549921, rs2505399512, rs1412833703, rs1895977771, rs2505495592, rs864622347, rs148969222, rs2505446577, rs1286401716, rs2505441838, rs2505400736, rs2505385125, rs2151166047, rs2505399445, rs1243923870, rs757221938, rs1555419748, rs2505393049, rs2505561919, rs2505435138, rs2505546593, rs2505434766, rs2505495426, rs2505427549, rs1179486581, rs2505501858, rs2505457182, rs2505425763, rs2505384718, rs2151147324, rs2505495794, rs2505501266, rs2505495712, rs2151199869, rs2505525790, rs1043718482, rs2505429939, rs2505534618, rs2505400713, rs2505454170, rs2505447704, rs2505516147, rs2505516720, rs1261315093, rs1895691198, rs2505390555, rs2505440995, rs2505525604, rs2505385302, rs2505524498, rs2505390889, rs2505406729, rs2505501205, rs2505428836, rs2505422461, rs2505495374, rs2505502305, rs2505385265, rs2151159026, rs2505457118, rs2505425143, rs2505393476, rs2505456660, rs2505394659, rs2505456377, rs2505502113, rs2505393905, rs2505561427, rs1227297747, rs2505425468, rs2505441930, rs2505390165, rs1895641581, rs2505407634, rs2151152283, rs2505524778, rs1342383599, rs2505525112, rs2505435325, rs2151198294, rs766474320, rs2505516486, rs1286600850, rs971200482, rs140387675, rs2505547571, rs2505535024, rs2505426939, rs886051551, rs750293380, rs745807085, rs1057516297, rs1057517229, rs1057517359, rs1057517030, rs1057516964, rs746244182, rs1057516361, rs1057517266, rs1057517432, rs1057516956, rs1057517431, rs1057516452, rs1057516700, rs745538883, rs1057516719, rs1057516253, rs1057516774, rs1057516547, rs1057517154, rs1057516728, rs367543043, rs1555420842, rs762354041, rs781221411, rs1060500652, rs1248548542, rs373525781, rs960430492, rs1555419710, rs1555419806, rs1319786857, rs1555419889, rs772785079, rs367543036, rs367543028, rs367543016, rs367543024, rs367543039, rs367543014, rs367543030, rs367543029, rs367543032, rs367543017, rs367543033, rs367543018, rs367543021, rs367543031, rs367543013, rs367543012, rs367543019, rs770751979, rs1555424368, rs1555418701, rs1555419704, rs1555419724, rs1555419742, rs1555419829, rs1555419862, rs1555420142, rs1555420602, rs1555420844, rs1245531016, rs1555425074, rs1555419961, rs1555420871, rs1555423119, rs746218707, rs1555425080, rs1215497457, rs1555418380, rs1170049553, rs1555419696, rs754203833, rs1555419902, rs1555424305, rs1555424372, rs1555424376, rs1555425063, rs1555418352, rs1555419873, rs1555419980, rs762804291, rs1555423062, rs1555423753, rs1555424311, rs1234064430, rs1275708646, rs1555425062, rs764086459, rs770311534, rs1567036566, rs1567036579, rs1309932713, rs1567045531, rs1567063125, rs1567066891, rs1477193473, rs1567045130, rs1567038003, rs1400231534, rs1567052178, rs1567053170, rs1567040469, rs774777021, rs1596218981, rs1217879599, rs1596230118, rs1596235791, rs1596267627, rs1596223715, rs1596250472, rs1596252279, rs865866188, rs1596232266, rs747341586, rs918752814, rs1567035745, rs1596221020, rs1596228957, rs1596229894, rs747498968, rs1356090839, rs138943954, rs1486692931, rs1231598990, rs1596250255, rs1897239414, rs1895612617, rs1895692863, rs1205301894, rs1896235438, rs1896237929, rs1896712163, rs1896974524, rs1895617043, rs181892828, rs1895946786, rs1896091563, rs1567045235, rs1895690125, rs1896650174, rs765392662, rs758132052, rs1895965271, rs1896092339, rs1896146578, rs1896976755, rs896357448, rs1897238597, rs2505456934, rs1301751251, rs1897212605	RCV001379778 RCV001377320 RCV001377176 RCV001388702 RCV001384124 RCV001388233 RCV001386785 RCV001386838 RCV001389344 RCV001381406 RCV001386966 RCV001380476 RCV001389745 RCV001381957 RCV001386984 RCV001389039 RCV001385069 RCV001388693 RCV001380595 RCV001387237 RCV001390289 RCV001381688 RCV001380892 RCV001383124 RCV001381701 RCV001389026 RCV001383673 RCV001381538 RCV001533171 RCV001580644 RCV001782196 RCV001782211 RCV001782245 RCV000144577 RCV000169191 RCV000628687 RCV001824247 RCV001944778 RCV001894679 RCV001897202 RCV002021875 RCV002021882 RCV001881481 RCV001928458 RCV001999798 RCV001941705 RCV001960622 RCV001904489 RCV001950849 RCV001946725 RCV001907531 RCV001955979 RCV001992754 RCV002042518 RCV002017409 RCV001914325 RCV001905472 RCV001893400 RCV001996650 RCV001874514 RCV001874561 RCV001903058 RCV001878750 RCV002037872 RCV001994791 RCV001993144 RCV001999998 RCV001890241 RCV001890248 RCV001916169 RCV001916223 RCV002007426 RCV002011275 RCV001939492 RCV002012726 RCV001893678 RCV001941614 RCV001946986 RCV001882990 RCV001935138 RCV001947598 RCV001946817 RCV001943383 RCV001900353 RCV002014207 RCV001949522 RCV002039725 RCV001885621 RCV001972743 RCV001889951 RCV001959206 RCV001981961 RCV001959199 RCV002010406 RCV001949630 RCV001982147 RCV001909569 RCV001951557 RCV001886188 RCV000144576 RCV002249298 RCV002266414 RCV002287222 RCV002288304 RCV002291105 RCV003102387 RCV003475340 RCV003102447 RCV003614124 RCV000544365 RCV003774239 RCV003614161 RCV003100896 RCV003101966 RCV003475377 RCV003614187 RCV000169422 RCV000169224 RCV000169338 RCV000169119 RCV000169440 RCV003058483 RCV003076378 RCV003081168 RCV003075841 RCV003093333 RCV003081574 RCV002588044 RCV002629544 RCV002510388 RCV003118324 RCV002635373 RCV002642857 RCV002706733 RCV000005787 RCV000005788 RCV000005790 RCV000190641 RCV002825380 RCV002810370 RCV002824690 RCV002838048 RCV002846630 RCV002829347 RCV002856366 RCV002876562 RCV002862791 RCV002862809 RCV002893980 RCV002867303 RCV002877204 RCV002913779 RCV002867696 RCV002903884 RCV002885290 RCV002872739 RCV002918047 RCV002962911 RCV003011020 RCV003009024 RCV003003091 RCV003008212 RCV003005652 RCV002991645 RCV003038852 RCV003029631 RCV003019439 RCV003022513 RCV003023866 RCV003029087 RCV003053764 RCV003046822 RCV003047188 RCV003039704 RCV003047405 RCV003057527 RCV003062089 RCV003044385 RCV003061991 RCV003050060 RCV000204244 RCV000205550 RCV003230986 RCV003614225 RCV003475569 RCV003474354 RCV003474355 RCV003474356 RCV003474357 RCV003474358 RCV003474359 RCV003474360 RCV003474361 RCV003474362 RCV003474364 RCV003474365 RCV003474366 RCV003474367 RCV003474368 RCV003474369 RCV003474370 RCV003474371 RCV003474372 RCV003474373 RCV003474374 RCV003474376 RCV003474377 RCV003474378 RCV003474379 RCV003474380 RCV003474381 RCV003474382 RCV003474383 RCV003474384 RCV003474385 RCV003505426 RCV003505499 RCV003505777 RCV003506113 RCV003505957 RCV003506472 RCV003506577 RCV003506714 RCV003506742 RCV003504597 RCV003504654 RCV003504727 RCV003504924 RCV003504763 RCV003504948 RCV003505557 RCV003505065 RCV003614341 RCV003613607 RCV003613642 RCV003613979 RCV003614585 RCV003613915 RCV003613916 RCV003614002 RCV003614542 RCV003614693 RCV003614970 RCV003614847 RCV003614904 RCV003614965 RCV003614896 RCV003614922 RCV003614859 RCV003614920 RCV003615218 RCV003615260 RCV003615386 RCV003816185 RCV003813719 RCV003818435 RCV003858711 RCV003871592 RCV003870002 RCV005100506 RCV004555424 RCV004575410 RCV004575411 RCV004575412 RCV004575413 RCV004575414 RCV004575415 RCV004575417 RCV004575418 RCV004575419 RCV000336886 RCV000409688 RCV000410622 RCV000411055 RCV000411717 RCV000411857 RCV000410940 RCV000412101 RCV000410691 RCV000409376 RCV000411275 RCV000409598 RCV000412340 RCV000410100 RCV000411246 RCV000409206 RCV000410779 RCV000411706 RCV000409280 RCV000411218 RCV000412132 RCV000412256 RCV000410178 RCV000409908 RCV000415444 RCV000467746 RCV000469284 RCV000477306 RCV000469408 RCV002525121 RCV000545144 RCV000534534 RCV000528231 RCV000560371 RCV000525613 RCV005091419 RCV000586500 RCV000034890 RCV000034892 RCV000034893 RCV001806715 RCV000034897 RCV001231693 RCV000034902 RCV002238626 RCV000034904 RCV005015170 RCV001941615 RCV000034910 RCV003041245 RCV002249299 RCV001247415 RCV000034915 RCV002510331 RCV000034918 RCV000035004 RCV000035005 RCV000628660 RCV000628634 RCV000674509 RCV000664785 RCV000668935 RCV000670863 RCV000670355 RCV000666095 RCV000668047 RCV000673943 RCV000665636 RCV000671509 RCV000664850 RCV000669379 RCV000671163 RCV000667408 RCV000672550 RCV000664476 RCV000669899 RCV000674307 RCV000674476 RCV000669465 RCV000669294 RCV000668749 RCV000671593 RCV000668337 RCV000673166 RCV000665331 RCV000672249 RCV000666859 RCV000671125 RCV000668031 RCV000673428 RCV000668814 RCV000668805 RCV000668966 RCV000666970 RCV000666852 RCV000674492 RCV000670866 RCV000670350 RCV000670228 RCV000675024 RCV000681632 RCV000706208 RCV000698648 RCV000694716 RCV000705086 RCV000704332 RCV000684874 RCV000700601 RCV000696140 RCV000700888 RCV000709358 RCV000709362 RCV000709367 RCV000709368 RCV000779836 RCV000819448 RCV000796888 RCV000822653 RCV000823524 RCV000798090 RCV000809430 RCV000797339 RCV000826134 RCV001007656 RCV001007657 RCV000855680 RCV000989387 RCV000989392 RCV002550917 RCV001215519 RCV001387853 RCV003505155 RCV003505157 RCV001389843 RCV001194354 RCV001832335 RCV002549519 RCV001068255 RCV001065154 RCV002552042 RCV001036285 RCV001062839 RCV001062518 RCV001048026 RCV001059204 RCV001058958 RCV001055201 RCV001050406 RCV001057874 RCV001071167 RCV001065618 RCV001214968 RCV001218699 RCV001220491 RCV001204955 RCV001211746 RCV001224424 RCV001221740 RCV001217257 RCV001225612 RCV001237756 RCV001234159 RCV001238842 RCV001233659 RCV001241670 RCV001246107 RCV001243070 RCV001236569 RCV001255731 RCV001256002 RCV001256003 RCV001310121	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal cancer	Pathogenic; Likely pathogenic	rs200389141, rs2151146678, rs2505534508, rs1896706358, rs1897233241	RCV005364993 RCV006249801 RCV003334409 RCV001293818 RCV001293817	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial carcinoma	Pathogenic	rs2505534508	RCV003334409	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs2505534508	RCV003334409	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs781221411, rs367543043, rs1897239414	RCV001030680 RCV001030453 RCV001030460	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2151147628, rs1358266880, rs1472603091, rs2151145090, rs2151158046, rs200389141, rs587779884, rs587779886, rs2151158165, rs1456964727, rs2151152104, rs2151146678, rs2151178019, rs2151184718, rs2151198389, rs369583279, rs587783037, rs2505566477, rs2505525096, rs2505534228, rs2505547850, rs771325448, rs2505561874, rs746218707, rs2505546989, rs1409782833, rs2505392471, rs2505392993, rs730881428, rs730881429, rs2505394597, rs766861351, rs2505429412, rs2505427648, rs2505428176, rs2505428800, rs2505429817, rs2505447254, rs2505447089, rs2505434603, rs1555420917, rs2505441027, rs779027186, rs367543026, rs786204524, rs747281324, rs786204471, rs780379121, rs1567062835, rs2505392601, rs1897349804, rs113993962, rs1214154774, rs2505434577, rs538728271, rs1412833703, rs864622347, rs148969222, rs897262346, rs2505547150, rs2505426263, rs2505525752, rs1895946786, rs2505547402, rs2505525644, rs2505525001, rs1895978539, rs1286401716, rs2505495637, rs2151166047, rs1243923870, rs2505525790, rs2505390889, rs2505406989, rs2505426240, rs2505399652, rs2505385256, rs2505400284, rs2151147279, rs2505441711, rs750293380, rs745807085, rs1057517030, rs746244182, rs745538883, rs1057517154, rs367543043, rs1555420842, rs762354041, rs781221411, rs1060500652, rs1248548542, rs373525781, rs960430492, rs1555419710, rs1319786857, rs1555419889, rs772785079, rs367543028, rs367543024, rs367543039, rs367543014, rs367543029, rs367543032, rs367543033, rs367543021, rs367543031, rs367543013, rs367543019, rs1555418701, rs1555420602, rs754203833, rs1555424305, rs1555418352, rs1555423753, rs1555424311, rs1555425062, rs770311534, rs1567036579, rs1309932713, rs1567063125, rs1567052324, rs1400231534, rs1567040469, rs774777021, rs1217879599, rs1596267627, rs865866188, rs1596232266, rs747341586, rs918752814, rs1567035745, rs1596221020, rs1596228957, rs1596229894, rs747498968, rs1356090839, rs138943954, rs1596259860, rs1486692931, rs1596268270, rs1231598990, rs1596250255, rs1205301894, rs1896235438, rs1896712163, rs1895641581, rs1895931425, rs1567045235, rs758132052, rs1897238597, rs1596223715	RCV004037694 RCV002329401 RCV002447509 RCV002440874 RCV004040806 RCV000574676 RCV001016333 RCV001019262 RCV004041392 RCV004946936 RCV002386794 RCV003170519 RCV004044062 RCV004041441 RCV004946865 RCV003382681 RCV001020241 RCV002352971 RCV002325990 RCV002324685 RCV002459452 RCV002459215 RCV002355527 RCV002322542 RCV002456953 RCV002351186 RCV002328541 RCV002336054 RCV002381525 RCV000159830 RCV002370999 RCV002383303 RCV002410343 RCV002394894 RCV002414696 RCV002407621 RCV002414987 RCV002443746 RCV002428389 RCV002410792 RCV002433332 RCV002433333 RCV002423951 RCV002441312 RCV002354414 RCV001019885 RCV001014085 RCV001014933 RCV000574982 RCV003348997 RCV003161737 RCV003358132 RCV000562115 RCV004065024 RCV003294385 RCV005629683 RCV004948935 RCV004948214 RCV000572028 RCV003172625 RCV003177309 RCV003177316 RCV003306745 RCV003306746 RCV003278194 RCV003306753 RCV003341917 RCV003341921 RCV003358438 RCV003341932 RCV004949104 RCV004364805 RCV004604950 RCV004950462 RCV004516531 RCV004516700 RCV004521613 RCV004521617 RCV004521633 RCV004521636 RCV004521366 RCV004518896 RCV002374613 RCV001019785 RCV001017760 RCV001017226 RCV001011718 RCV002436232 RCV002450947 RCV002402108 RCV003298468 RCV002436391 RCV002257685 RCV002429478 RCV001015149 RCV000576060 RCV002420336 RCV002323901 RCV001019499 RCV000574589 RCV001013870 RCV001012119 RCV001014425 RCV000574956 RCV002426543 RCV000571923 RCV000569697 RCV004519129 RCV002453293 RCV003162294 RCV002354185 RCV002399367 RCV002426544 RCV002442401 RCV001015091 RCV002325337 RCV001010863 RCV001020451 RCV003303099 RCV002442393 RCV001020477 RCV002352094 RCV001020308 RCV002440495 RCV002440472 RCV002458303 RCV004026532 RCV004026782 RCV002442599 RCV002352448 RCV002363170 RCV002255532 RCV001019784 RCV001014688 RCV002416269 RCV001014986 RCV001025562 RCV001025911 RCV001027379 RCV001010127 RCV001011597 RCV001012466 RCV001012779 RCV001013170 RCV001018333 RCV001020616 RCV001020861 RCV001014335 RCV001014689 RCV001015947 RCV002402442 RCV002451246 RCV003363083 RCV002418559 RCV003346308 RCV002463788 RCV003284079 RCV003294138 RCV004033316	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs1179486581	RCV005927733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary disease	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Olaparib response	drug response; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	10637504, 10779560		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18401830, 25908507		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12242442, 25908507		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	24413054, 28398700, 28877996, 31138797, 31171703	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	15257300	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	40355560	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	19095983		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	11309417, 12034743	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	14729972, 17768402, 27169843		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19095983		★☆☆☆☆ Found in Text Mining only
Atypical Werner syndrome	Werner Syndrome	BEFREE	19095983		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	28464862		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	28464862	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19432957, 31828101		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	10069810, 10521302, 10540192, 10545272, 10600744, 10637504, 10652259, 10762650, 10779560, 10825162, 10965492, 11146546, 11173860, 11275547, 11309417, 11356154, 11396677, 11399766, 11487553, 11691925, 11697506, 11741924, 11781842, 11840341, 11960380, 11971187, 12034743, 12060858, 12429945, 12444098, 12606585, 12826610, 12952869, 14517203, 14576316, 14685245, 14729972, 15137905, 15197177, 15289897, 16537486, 16880537, 17407155, 17630856, 17728255, 17900800, 18210922, 18401830, 18471088, 18787401, 18923082, 19432957, 19542097, 19935873, 20299287, 20663905, 21300576, 21399624, 21511048, 21712816, 22024395, 23028338, 23110454, 23129629, 23161009, 23225144, 23261817, 23276657, 23552953, 24096176, 24118499, 24602044, 24958861, 25129257, 25418155, 25673821, 25766002, 25794620, 25908507, 27016306, 27977684, 28338731, 28526615, 28947735, 29042409, 29056561, 29080750, 29523790, 29958926, 30044990, 30209988, 30916344, 30936263, 31112269, 31660888, 31772289, 31805151, 7485150, 7585968, 8022833, 8079989, 8875252, 8913739, 9285778, 9388193, 9388480, 9482582, 9655940, 9671747, 9731483, 9840919, 9886565		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bloom Syndrome	Bloom Syndrome	CLINVAR_DG	10069810, 10090915, 10521302, 10569803, 10734115, 10812332, 10965492, 12242432, 12444098, 15579905, 17407155, 17878217, 18471088, 21113733, 22582397, 22885301, 23028338, 23225144, 23276657, 23552953, 24096176, 24118499, 24448499, 24733792, 24932421, 25129257, 25182961, 25399228, 25525159, 25850943, 26247052, 26340805, 26358404, 26546047, 26556299, 26788541, 27175728, 27356891, 27657136, 27959697, 28611551, 29098565, 29439820, 7585968, 9388480, 9758720, 9837821, 9840919		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bloom Syndrome	Bloom syndrome	Pubtator	10359700, 10521302, 10540192, 10620009, 10734115, 10779560, 10823897, 10825162, 10965492, 11154689, 11309417, 11325959, 11399766, 11433031, 11461087, 11470874, 11472631, 11691925, 11741924, 11876000, 11919194, 12034743, 12060858, 12433984, 12724401, 12826610, 12975363, 14517203, 14576316, 14577841, 14688284, 14729972, 15257300, 15579905, 15899892, 15990871, 16030011, 16287861, 16288211, 16412221, 16537486, 16595695, 16611240, 16950766, 17599064, 17634426, 17878217, 17984114, 18003860, 18210922, 18504617, 18923071, 19165145, 19432957, 19567405, 19632996, 19935873, 19966276, 20663905, 20826341, 20826342, 21113733, 21300576, 21399624, 21712816, 21736299, 22024395, 22392978, 22576367, 23028338, 23110454, 23129629, 23161009, 23261817, 23509288, 24012121, 24095737, 24108125, 24958861, 25418155, 25766002, 25794620, 26181065, 26358404, 26556339, 27083049, 27601585, 27977684, 28947735, 29098565, 29523790, 30936263, 31112269, 31544923, 31816118, 32073752, 32221746, 32367056, 32704157, 33219493, 33495511, 33500419, 33832920, 34177791, 34352413, 34370039, 35080989, 35099000, 35115399, 35119917, 36004459, 36569948, 37052241, 37988849, 38266639, 40355560, 7485150, 7585968, 8022833, 8079989, 8913739, 9671747, 9765292, 9837821	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bloom Syndrome	Bloom Syndrome	CLINGEN_DG	10678659, 11101838, 12242442, 17407155, 7585968		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bloom Syndrome	Bloom Syndrome	UNIPROT_DG	10862105, 7585968, 9285778		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bloom Syndrome	Bloom Syndrome	GENOMICS_ENGLAND_DG	11257107, 17407155, 28297620		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bloom Syndrome	Bloom Syndrome	LHGDN	11472631, 11532193, 11741924, 11781842, 11919194, 15289897, 17407155, 17634426, 18682526, 18708356		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bloom syndrome	Bloom Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bloom Syndrome	Bloom Syndrome	CTD_human_DG	21440839		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Cancer, Familial	Breast Cancer	BEFREE	16501249, 24415413		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19205873, 19432957, 21815139, 23028338, 23225144, 23404160, 24096176, 24800916, 25182961, 26690424, 27798748, 31292799, 31660888, 9506891		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19432957, 23028338, 23404160, 33735170, 36315097, 37047678	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10823897	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25424877, 29386092, 31210839, 38124443	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29958926		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33540684	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19432957, 31828101		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25182961		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32631246	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	23322570, 30227115		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	19567405	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome Instability Syndromes	Chromosome Instability Syndromes	BEFREE	16493006		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	19095983		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12702560, 14695165, 19945966, 26358404, 27169843, 28647934		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12242432		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15959913, 18210922, 25668003, 26318585, 26358404, 28647934, 29386092	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11840341, 17363339, 17923529, 25794620		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	23322570		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	29016654		★☆☆☆☆ Found in Text Mining only
Cutis Laxa Autosomal Recessive Type IIB	Cutis laxa	Pubtator	27859906	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34177791	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28647934		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28647934	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	12724401, 15257300, 21240188, 22024395, 23028338, 27083049, 29089570, 30110632, 30209988, 31138797		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	22024395, 23028338, 27083049	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	12724401, 21240188, 22024395, 23028338, 27083049, 29089570, 30110632, 30209988, 31138797		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	BEFREE	29089570		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	9731483		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	25418155, 31816118	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18210922, 29452344, 37047678	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	11765063, 15990871		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	15520224		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35687490	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	GENOMICS_ENGLAND_DG	17407155		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	18923075	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	12242442		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28057588		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15750625		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19432957, 32868804	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10779560	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17855454		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12242442		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19917125, 35687490	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	19917125		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	19917125		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19205873, 19432957, 21815139, 23028338, 23225144, 23404160, 24096176, 24800916, 25182961, 26690424, 27798748, 31292799, 31660888, 9506891		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28647934		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25182961		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24096176, 25472581, 28943928, 31210839, 31816118		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	27010584		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19432957, 31828101		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10637504, 11032027, 11138010, 11146546, 11697506, 11765063, 12702560, 14576316, 14685245, 15197177, 15498034, 15829507, 16501249, 16537486, 16864798, 16914751, 17364146, 17507683, 17900800, 18195102, 18210922, 18616953, 18923075, 19205873, 19432957, 19657341, 19945966, 20389284, 20663905, 21300576, 21399624, 24958861, 25418155, 25766002, 25908507, 26318585, 26778106, 27083049, 28090586, 28302160, 28338731, 28647934, 29275311, 30057030, 30261190, 30936263, 30957187, 31772289		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18210922		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18974064		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24415413, 25673821		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10095061, 11291042, 17695521, 18068334, 19432957, 23404256		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26225426, 38247872, 39285403	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	31816118		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36223594, 36569948	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24615621		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12242442, 12702560, 18401830, 20299287, 20663905, 23110454, 23404160, 23750012, 24415413, 26318585, 27169843, 27876123, 30044990, 30261190, 31210839, 31660888, 31816118		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10069810, 10090915, 11399766, 12242432, 12702560, 15726604, 17407155, 21815139, 23028338, 23225144, 23552953, 23928670, 24096176, 24733792, 25182961, 25399228, 25410042, 25525159, 26247052, 26358404, 26822949, 27153395, 27533158, 7585968, 9482582, 9837821		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26499864		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25477524	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27876123		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	BEFREE	23322570		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	23322570		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35057767	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	25182961		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29452344, 37047678	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39256447	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36389665	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	19095983		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	19095983		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	17630856		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	10620009, 11697506, 16412221, 16501249, 19205873, 19567405, 19657341, 20075015, 20952810, 23161009, 26690424, 27238185		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24096176, 25472581, 28943928, 31210839, 31816118		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25111073, 25472581, 31210839, 31816118, 36499126	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27107963, 28860147, 30481795, 31049028, 31401393, 31473797		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19945966		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	12200042		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33832920	Associate	★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	11356154, 12200042, 18430459, 18719387, 22039056		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	26091621		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	26091621		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	33495511	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	1279317, 16774934		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32704157	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26091621, 31840939		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	22576367, 25084169, 28877996	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	27010584		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	27010584		★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	26499864		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29452344	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31828101	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36004459	Stimulate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	24800916		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	10600744, 10779560, 10823897, 11138010, 11275547, 11356154, 11399766, 11840341, 12427531, 17301258, 19095983, 19567405, 20159463, 20739603, 23161009, 26690424, 29080750, 31772289, 8913739, 9671747		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	10779560, 10823897, 15899892, 16030011, 20663905, 22576367, 23161009, 32367056, 8913739, 9671747	Associate	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	16288211, 19966276	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	40340749	Associate	★☆☆☆☆ Found in Text Mining only