RECQL4 (RecQ like helicase 4)

Gene

• Entrez ID: 9401
• Gene name: RecQ like helicase 4
• Gene symbol: RECQL4
• Synonyms (NCBI Gene): RECQ4
• Chromosome: 8
• Chromosome location: 8q24.3
• Summary: The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and tes

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34134064	AC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs34666647	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs35346077	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs61755066	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs117642173	C>T	Pathogenic	Splice acceptor variant
rs137853229	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs137853230	G>A	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs137853232	G>A	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs148912524	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs190388213	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201815449	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs202045203	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs368081792	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs368989729	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs372380880	C>T	Pathogenic	Splice acceptor variant, intron variant
rs373130543	C>T	Likely-pathogenic	Splice donor variant, non coding transcript variant, missense variant, coding sequence variant
rs386833843	A>-	Pathogenic	Splice donor variant
rs386833844	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833845	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386833846	CCCG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386833847	TCCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386833848	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs386833849	C>A,G,T	Likely-pathogenic, pathogenic	Intron variant, splice acceptor variant
rs386833850	A>C,G	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, intron variant, non coding transcript variant, synonymous variant, missense variant
rs386833851	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386833852	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs386833853	T>A,G	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs398124117	C>G,T	Pathogenic	Splice acceptor variant
rs552960344	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs557284122	A>C	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant, missense variant
rs746303718	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs746691436	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs748604051	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, synonymous variant
rs752301125	C>G,T	Likely-pathogenic	Splice acceptor variant, missense variant, coding sequence variant
rs752729755	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs754134346	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs758790200	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained
rs760363252	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs762028333	C>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs768749064	A>C,G	Likely-pathogenic	Synonymous variant, non coding transcript variant, splice donor variant, coding sequence variant, intron variant
rs770709355	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs771349728	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs771538008	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs773765879	TC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs778141083	AC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs780542343	AAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786200887	AGGCCGC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786200889	T>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs786200890	CTGTGA>-	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant
rs878854644	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs878854645	->TT	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs886043102	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1054186954	G>A,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1060501383	AGGGGC>GGGGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307090	C>A	Likely-pathogenic	Splice donor variant
rs1176959485	C>A,T	Likely-pathogenic	Splice donor variant
rs1215700016	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1220902289	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1356876749	C>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1402322681	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1406641581	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1457411812	T>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1483085748	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554896308	->TGCTGCGCTCCTCATCCTGC	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1554896691	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554897134	GTGCTTACCTGTGGGCCAGGGCCTGGAGCTGGGCAGGGC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1554898257	ACAGCCCGCACATCTGGCCGGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1554898541	T>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1554899720	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554899728	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554901674	C>T	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs1564790457	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1564791894	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, missense variant
rs1564794448	->GGCCC	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1564802464	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564804342	CC>G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564804479	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1586790519	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, splice donor variant
rs1586791537	C>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1586791945	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1586794620	C>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, splice donor variant
rs1586795055	CA>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1586795973	A>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1586819343	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016439	hsa-miR-193b-3p	Microarray	20304954
MIRT039905	hsa-miR-615-3p	CLASH	23622248
MIRT2313899	hsa-miR-3609	CLIP-seq
MIRT2313900	hsa-miR-520g	CLIP-seq
MIRT2313901	hsa-miR-520h	CLIP-seq
MIRT2313902	hsa-miR-548ac	CLIP-seq
MIRT2313903	hsa-miR-548ae	CLIP-seq
MIRT2313904	hsa-miR-548ah	CLIP-seq
MIRT2313905	hsa-miR-548aj	CLIP-seq
MIRT2313906	hsa-miR-548am	CLIP-seq
MIRT2313907	hsa-miR-548d-3p	CLIP-seq
MIRT2313908	hsa-miR-548x	CLIP-seq
MIRT2313909	hsa-miR-548z	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HDAC1	Repression	15674334
SP1	Activation	15674334
SP1	Unknown	10552928
TP53	Activation	15674334

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000405	Function	Bubble DNA binding	IDA	19177149
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IMP	22039056
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000781	Component	Chromosome, telomeric region	IMP	22039056
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	22039056
GO:0005515	Function	Protein binding	IPI	21044950, 22039056
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	22039056
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9878247
GO:0006310	Process	DNA recombination	IEA
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0032357	Function	Oxidized purine DNA binding	IDA	22039056
GO:0043138	Function	3'-5' DNA helicase activity	IMP	19177149
GO:0046872	Function	Metal ion binding	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0061820	Process	Telomeric D-loop disassembly	IDA	22039056
GO:0061820	Process	Telomeric D-loop disassembly	IGI	22039056
GO:0061821	Function	Telomeric D-loop binding	IDA	22039056
GO:0140097	Function	Catalytic activity, acting on DNA	IEA
GO:1990814	Function	DNA/DNA annealing activity	IDA	19177149

Other IDs

• MIM: 603780
• HGNC: 9949
• e!Ensembl: ENSG00000160957

Protein

• UniProt ID: O94761
• Protein name: ATP-dependent DNA helicase Q4 (EC 5.6.2.4) (DNA 3'-5' helicase RecQ4) (DNA helicase, RecQ-like type 4) (RecQ4) (RTS) (RecQ protein-like 4)
• Protein function: An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) b
• PDB: 2KMU, 5LST
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11719	Drc1-Sld2	4 → 112	DNA replication and checkpoint protein	Family
  PF00270	DEAD	482 → 652	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	683 → 809	Helicase conserved C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in thymus and testis. {ECO:0000269|PubMed:9878247}.
• Sequence:

  MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLR
  SSESLPAAAEEAPEPRCWGPHLNRAATKSPQSTPGRSRQGSVPDYGQRLKANLKGTLQAG
  PALGRRPWPLGRASSKASTPKPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLS
  QRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQLLIPGESAVLGPGAGSQGPEAS
  AFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPG
  EPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDRGNYVRLNMKQ
  KHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPA
  SEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQA
  FRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQ
  VSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVA
  FACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAE
  EPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALL
  RTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDR
  PDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFL
  AVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGH
  ERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALA
  HRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGV
  RRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSV
  AFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVR
  CDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLAT
  EELLQVAR

• Sequence length: 1208

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
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	Pathogenic	rs386833845	RCV000761024	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Baller-Gerold syndrome	Likely pathogenic; Pathogenic	rs398124117, rs1815033569, rs2130657545, rs2130676059, rs569948031, rs2130702516, rs1331348912, rs376392965, rs1827314465, rs2130655986, rs1319295020, rs2130658485, rs1827372162, rs2130662004, rs1203766600, rs762591075, rs2130679030, rs2130684253, rs994355873, rs2130684472, rs2130690486, rs1827788039, rs2130703373, rs2130707477, rs2130713508, rs377589237, rs375236875, rs770874039, rs2130718160, rs2130720341, rs2130723893, rs775600052, rs745627867, rs1427556033, rs1401366375, rs1330614261, rs2130746001, rs2130712164, rs2130706345, rs868635592, rs1227874093, rs2130661643, rs368585080, rs2130670832, rs2130698955, rs574326650, rs1345625725, rs1371868658, rs2130679588, rs1259761865, rs1416634281, rs753620447, rs1827970204, rs2130707964, rs2130654806, rs1327061374, rs2130679413, rs2130656050, rs1257273728, rs2130736361, rs1554904702, rs909588820, rs1827595485, rs1564802842, rs2130741439, rs2130670737, rs2130728440, rs1827833554, rs2130745716, rs2130690035, rs1208137808, rs2130711906, rs2130745875, rs2130712718, rs1263096303, rs1295396384, rs749389984, rs757032044, rs2130729321, rs1206089987, rs2130727195, rs2130721433, rs754986197, rs2130654895, rs2130680809, rs2130673117, rs1466549456, rs2130689994, rs2130718434, rs1238821346, rs2538016493, rs2538032464, rs2537985403, rs2538004131, rs2538008671, rs1827842344, rs2538133063, rs2538003343, rs1391654044, rs1827984690, rs746636748, rs1827563088, rs1302751005, rs1827938831, rs751422368, rs2538071871, rs768685242, rs2130682673, rs776743331, rs2538007835, rs1318489395, rs2537991132, rs2537967411, rs2537980228, rs2537997706, rs2538092564, rs2538059415, rs2130680464, rs2130745099, rs2537972624, rs2537984933, rs2538018509, rs2538059787, rs2537965574, rs2537981842, rs2538030826, rs2538114200, rs1814928114, rs779196557, rs2538038465, rs949806741, rs1586833765, rs786200887, rs137853229, rs752729755, rs386833849, rs386833845, rs117642173, rs137853231, rs137853232, rs786200889, rs760363252, rs2130735808, rs2538078976, rs772896860, rs757872564, rs2538099260, rs2537980642, rs2130679286, rs2130664418, rs2537991796, rs2537973349, rs761801479, rs2537971729, rs2538052211, rs377343487, rs2538008707, rs2130728478, rs2538123823, rs1085307090, rs771538008, rs766312203, rs878854645, rs878854644, rs886041662, rs372380880, rs752895450, rs2537997009, rs2538046041, rs1815370807, rs2538086204, rs2537990692, rs375356144, rs1335967859, rs2537977434, rs2538065578, rs2130745290, rs2538063597, rs2538062813, rs1035057882, rs2538121557, rs1292831710, rs2538102032, rs2538113308, rs2537978632, rs1165502618, rs2538093798, rs2538082852, rs1426829329, rs2130677693, rs2538129234, rs2537973738, rs2538020596, rs2538010993, rs2538017691, rs2538003704, rs2537984222, rs995015088, rs2538035560, rs2538031872, rs2538077097, rs2538045216, rs2537967205, rs2538122419, rs2538092118, rs1391954605, rs2537974946, rs1564804563, rs2537967229, rs2538041856, rs2537966952, rs1815108719, rs2538037515, rs2538089904, rs2537987421, rs2537979860, rs2130702553, rs2538054085, rs2537989491, rs2538014296, rs1060501353, rs778141083, rs1060501383, rs1060501384, rs1060501370, rs1064796290, rs373180788, rs1389647533, rs1554904773, rs34134064, rs1554902528, rs773325186, rs1554904685, rs1554897134, rs758790200, rs1457411812, rs1554899720, rs1554901674, rs1356876749, rs1554896691, rs1054186954, rs552960344, rs1554899728, rs1050860620, rs1554903709, rs1564804479, rs1564807584, rs1402322681, rs368081792, rs768749064, rs780542343, rs770709355, rs1564802464, rs1564804342, rs1564808132, rs752301125, rs1564791894, rs746691436, rs1220902289, rs1317950691, rs775439596, rs1564790457, rs762028333, rs1483085748, rs1586791537, rs773765879, rs1586795055, rs1586795973, rs1406641581, rs1215700016, rs1564794448, rs1586819343, rs1586821509, rs934534826, rs1586824430, rs1586824650, rs1586824938, rs766643335, rs1586834813, rs1586791945, rs1586794620, rs1586790519, rs1176959485, rs373130543, rs386833843, rs386833844, rs386833847, rs386833851, rs386833852, rs1586821679, rs1406864413, rs1827248750, rs1827432061, rs1827556397, rs977450143, rs1564799470, rs1564801266, rs1827984994, rs1360427319, rs1815344712, rs771839491, rs751503394, rs1827352302, rs1827815076, rs372521987, rs1827483654, rs1254532871, rs1828019195, rs1827604419, rs746222099, rs1828085910, rs1391918705, rs1827306118, rs1586792875, rs1024114400, rs1815053872, rs1815425378, rs1001434106	RCV000474405 RCV001388590 RCV001376815 RCV001378084 RCV001378208 RCV001378989 RCV001381989 RCV001386884 RCV001381196 RCV001390982 RCV001388951 RCV001390719 RCV001383340 RCV001389491 RCV001388445 RCV001382147 RCV001387129 RCV001384533 RCV001385570 RCV001382447 RCV001385804 RCV001389876 RCV001382120 RCV001388060 RCV001382471 RCV001382033 RCV001386833 RCV001390547 RCV001382939 RCV001381590 RCV001390535 RCV001384803 RCV001380243 RCV001382117 RCV001388955 RCV001386314 RCV001381497 RCV001449646 RCV002570744 RCV001775044 RCV002544271 RCV001923223 RCV001970302 RCV002038929 RCV001993016 RCV001979037 RCV001928310 RCV001999919 RCV001941700 RCV001960613 RCV001941818 RCV001904402 RCV001968047 RCV001981313 RCV001970964 RCV001931317 RCV001949243 RCV001976382 RCV001926543 RCV002007280 RCV001993159 RCV001893490 RCV002037814 RCV001891688 RCV001994495 RCV001941956 RCV002031137 RCV001941543 RCV001941605 RCV001951234 RCV001946973 RCV001950978 RCV001970071 RCV001896939 RCV002001142 RCV001930664 RCV001953527 RCV001972614 RCV002046674 RCV001901590 RCV001944029 RCV001982936 RCV001959197 RCV001985044 RCV001985169 RCV001975082 RCV001960061 RCV001921818 RCV001987104 RCV001918550 RCV002041057 RCV003094080 RCV003058698 RCV003065380 RCV003060903 RCV003079092 RCV002599636 RCV002595420 RCV002592135 RCV002637217 RCV003104701 RCV003108465 RCV003115600 RCV000471676 RCV002591343 RCV002590144 RCV002597217 RCV002634875 RCV002627132 RCV002642779 RCV002690341 RCV002721628 RCV002800322 RCV002774917 RCV002846572 RCV002839420 RCV002857553 RCV002866196 RCV002866785 RCV002867172 RCV002857313 RCV002881320 RCV002858122 RCV002876592 RCV002871117 RCV002863503 RCV002881062 RCV002848321 RCV002889702 RCV002886022 RCV002886142 RCV002891105 RCV002913574 RCV002885253 RCV002872784 RCV002913443 RCV002512831 RCV000464774 RCV000527990 RCV002279710 RCV000169785 RCV000814733 RCV002279711 RCV001068023 RCV000006445 RCV000006448 RCV000793666 RCV002947451 RCV002914969 RCV002904248 RCV002914839 RCV002939080 RCV003021378 RCV003030837 RCV002996567 RCV003019207 RCV003026645 RCV003024099 RCV003038505 RCV003042061 RCV003015015 RCV003045634 RCV003027009 RCV003055542 RCV003040985 RCV000490255 RCV000227479 RCV000234695 RCV000233962 RCV000234369 RCV003507271 RCV001219316 RCV003507555 RCV003507605 RCV003508055 RCV003508371 RCV003508164 RCV003508580 RCV003508670 RCV003508648 RCV003508651 RCV003508760 RCV003508596 RCV003506860 RCV003508847 RCV003506842 RCV003506850 RCV003506836 RCV003506913 RCV003506967 RCV003507062 RCV003507220 RCV003507226 RCV003507977 RCV003507982 RCV003507892 RCV003616160 RCV003616267 RCV003616468 RCV003616488 RCV003616379 RCV003616665 RCV003616512 RCV003616595 RCV003616839 RCV003616679 RCV003616849 RCV003616687 RCV003616901 RCV003616942 RCV003617070 RCV003617085 RCV003617021 RCV003617189 RCV003615600 RCV003615626 RCV003615609 RCV003615636 RCV003615761 RCV003615718 RCV003819924 RCV003834815 RCV003835844 RCV003861486 RCV003854004 RCV003851558 RCV003862446 RCV003876351 RCV003879929 RCV000468125 RCV000476268 RCV005208566 RCV000458104 RCV000465867 RCV000690768 RCV001390976 RCV000537554 RCV000542322 RCV000539216 RCV000551500 RCV000526223 RCV000556402 RCV000536821 RCV001056578 RCV000634252 RCV000634280 RCV000634228 RCV000634275 RCV000634305 RCV000634251 RCV000634279 RCV000634229 RCV000634234 RCV001211921 RCV001861876 RCV000686305 RCV000703108 RCV000686928 RCV000698119 RCV000697637 RCV000688309 RCV000696676 RCV000700758 RCV000695333 RCV000700041 RCV000686054 RCV000703178 RCV000693655 RCV000684868 RCV000692603 RCV000699637 RCV001217303 RCV002536492 RCV001061144 RCV000813807 RCV000803970 RCV000814235 RCV000795969 RCV000824600 RCV000806868 RCV000794693 RCV000793405 RCV000815861 RCV000795101 RCV000818967 RCV000794242 RCV000804036 RCV000797175 RCV000799876 RCV000792722 RCV000795732 RCV000811085 RCV000792036 RCV000809483 RCV001063498 RCV000812127 RCV000228610 RCV005089447 RCV001044864 RCV000535585 RCV000543467 RCV000991393 RCV001389677 RCV001039419 RCV001063592 RCV001061310 RCV001046641 RCV001046313 RCV001048469 RCV001059460 RCV001050612 RCV001048229 RCV001046314 RCV001049368 RCV001051398 RCV001063301 RCV001053031 RCV001063080 RCV001071845 RCV001216904 RCV001215651 RCV001217277 RCV001201898 RCV001209666 RCV001204870 RCV001224297 RCV001219305 RCV001230413 RCV001231826 RCV001228596 RCV001229614 RCV001241343 RCV001244293 RCV001244511 RCV001246194 RCV001236750 RCV001871755	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital heart disease	Likely pathogenic; Pathogenic	rs2538113308, rs386833852	RCV005363155 RCV005357427	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome	Pathogenic	rs2537979860	RCV005626869	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2130651375, rs137853229, rs752729755, rs786200889, rs1060501353, rs34134064, rs368081792, rs386833851	RCV002255981 RCV002255991 RCV002258780 RCV002255992 RCV002256258 RCV002257792 RCV002259000 RCV002255274	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
High grade surface osteosarcoma	Pathogenic	rs386833845	RCV000761053	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant fibrous histiocytoma	Likely pathogenic; Pathogenic	rs1483085748	RCV000761065	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs376874393, rs753593981	RCV003154740 RCV003154806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1586790519	RCV005902034	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rapadilino syndrome	Likely pathogenic; Pathogenic	rs398124117, rs1203766600, rs746636748, rs137853229, rs752729755, rs386833845, rs137853231, rs1085307090, rs771538008, rs766312203, rs768782202, rs1406641581, rs1586824938, rs386833843, rs386833844, rs386833846, rs386833847, rs386833849, rs386833851, rs386833852, rs386833853, rs137853230, rs386833854, rs1586821679	RCV002498420 RCV002476733 RCV002503690 RCV000763179 RCV001198176 RCV000049813 RCV000006444 RCV000490255 RCV001199106 RCV002500783 RCV003330298 RCV002501150 RCV002477843 RCV000049811 RCV000049812 RCV000049814 RCV000049815 RCV000049817 RCV000049819 RCV000049820 RCV000049821 RCV000049822 RCV000049823 RCV000991393	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RECQL4-related disorder	Pathogenic; Likely pathogenic	rs377589237, rs781636798, rs746636748, rs137853229, rs386833845, rs137853232, rs752895450, rs1060501383, rs1215700016	RCV003388007 RCV002510286 RCV004737282 RCV004786242 RCV004786243 RCV004532299 RCV004536831 RCV004539942 RCV004726850	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RECQL4-related spectrum disorders	Pathogenic; Likely pathogenic	rs2130706345, rs373130543	RCV001563659 RCV001563658	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rothmund-Thomson syndrome	Pathogenic; Likely pathogenic	rs137853229, rs386833845, rs1085307090, rs773325186, rs1554896308, rs1554898257, rs1564804479, rs377589237	RCV000006435 RCV000006438 RCV000490255 RCV000680220 RCV000677716 RCV000677717 RCV000680082 RCV000825542	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rothmund-Thomson syndrome type 2	Likely pathogenic; Pathogenic	rs398124117, rs1203766600, rs2130718434, rs746636748, rs1827563088, rs786200887, rs137853229, rs752729755, rs386833849, rs386833845, rs117642173, rs137853232, rs760363252, rs771538008, rs766312203, rs1060501383, rs34134064, rs1554903709, rs770709355, rs1406641581, rs1586824938, rs386833851, rs1586821679	RCV002498420 RCV002476733 RCV002251039 RCV001814092 RCV005601926 RCV000006434 RCV000984855 RCV000006436 RCV000006437 RCV000984856 RCV000006439 RCV000006441 RCV004795378 RCV000006450 RCV004771469 RCV002500783 RCV005055109 RCV001523816 RCV001523815 RCV002470953 RCV002501150 RCV002477843 RCV002490625 RCV000991393	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs398124117	RCV005886459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Absent radius	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS RADIAL APLASIA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial meningioma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple myeloma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME, TYPE 2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; -; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absent eyebrow	Absent eyebrow	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	35086131	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Baller-Gerold syndrome	Baller-Gerold Syndrome	CLINVAR_DG	10319867, 10678659, 12734318, 12838562, 12952869, 15897384, 15964893, 18504617, 18716613, 19291770, 21143835, 21418107, 23238538, 23899764, 24518840, 24635570, 25120469, 27247962, 28039508, 28486640		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Baller-Gerold syndrome	Baller-Gerold Syndrome	BEFREE	15964893, 16617241, 19291770, 25966250, 28358413, 29080750, 30206236		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Baller-Gerold syndrome	Baller-Gerold Syndrome	ORPHANET_DG	15964893		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Baller-Gerold syndrome	Baller-Gerold Syndrome	UNIPROT_DG	15964893		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Baller-Gerold syndrome	Baller-Gerold Syndrome	GENOMICS_ENGLAND_DG	19291770, 24635570, 9934984		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Baller-Gerold syndrome	Baller-Gerold Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Baller-Gerold syndrome	Baller-Gerold Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	10552928, 10678659, 18430459, 24924172, 27238185		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	23650516	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23894508, 26690729		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23894508, 24072219, 26690729, 30947698, 36126066, 36323529	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25424877, 31604778	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17641416		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34486474	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18449888		★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	24518840	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37456212	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17243165, 23874974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	17243165, 23874974		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	32040444	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosomal Instability	Chromosomal instability	Pubtator	19567405	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34477047	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15750208, 34361106	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	16630167		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	BEFREE	15897384		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital lamellar cataract	Congenital Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	26956253		★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	15964893	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	21082653, 25556649		★☆☆☆☆ Found in Text Mining only
Craniosynostosis radial aplasia syndrome	Craniosynostosis	Pubtator	15964893, 18716613, 19299466, 22885111, 23161009, 24942867, 25966250	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	31012786		★☆☆☆☆ Found in Text Mining only
Cutis Laxa Autosomal Recessive Type IIB	Cutis laxa	Pubtator	27859906	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	31541420		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16681588, 18647888, 18716613, 19291770, 24635570		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	23300679		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	28423363	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	29973652		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	29973652		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	31012786		★☆☆☆☆ Found in Text Mining only
Filippi syndrome	Filippi Syndrome	BEFREE	26956253		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22017238		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22017238		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29755109		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	15964893, 18716613	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23894508, 29659569, 30306255	Associate	★☆☆☆☆ Found in Text Mining only
High grade surface osteosarcoma	High Grade Surface Osteosarcoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28039508		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	17641416	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30365892, 31285125		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	24067899		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	36464833	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29541191		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	18716613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	18716613, 24746816	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	28039508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	23894508, 26690729		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29541191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18449888		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21045146, 29659569		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30250613		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11032027, 15703196, 16246145, 16271439, 16630167, 17364146, 18003859, 18430459, 18616953, 18716613, 18719387, 19238688, 19657341, 20096650, 22296597, 23894508, 24067899, 24518840, 24960165, 25555679, 26690729, 26906415, 27287744, 27998982, 28090586, 28653661, 29080750, 30306255, 31303264, 31772289		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17243165, 23874974		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23300679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	23300679, 33077847	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	Pubtator	31887429	Associate	★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Midface capillary hemangioma	Midface capillary hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24746816	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16681588, 18647888, 18716613, 19291770, 24635570		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10552928, 15221963, 19242607, 21045146, 23412794, 24924172, 26690729, 29541191, 29755109		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12734318, 12952869, 15221963, 17264332, 18716613, 19242607, 20113479, 24518840, 24835790, 28159839, 30312871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	GENOMICS_ENGLAND_DG	12734318, 28338660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	LHGDN	18716613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	18716613, 19242607, 20465837, 24518840, 24835790, 28159839, 29367366, 29642415, 29706636, 30312871, 31604778, 34965247	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23965899	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39256447	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	24960165, 31276497		★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	BEFREE	16630167, 20113479, 20817924, 21872685, 24518840, 24635570		★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	20817924		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	10620009, 16246145, 18414032, 20075015, 20096650, 22296597, 23894508, 28653661		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	29659569	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21045146, 29659569		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21045146, 29659569	Associate	★☆☆☆☆ Found in Text Mining only
Rapadilino syndrome	Rapadilino Syndrome	CLINVAR_DG	10678659, 12734318		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rapadilino syndrome	Rapadilino Syndrome	ORPHANET_DG	12952869, 18716613		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAPADILINO syndrome	Rapadilino Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rapadilino syndrome	Rapadilino Syndrome	BEFREE	15317757, 15897384, 15964893, 19291770, 22885111		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rapadilino syndrome	Rapadilino Syndrome	GENOMICS_ENGLAND_DG	9934984		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rapadilino syndrome	Rapadilino Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	BEFREE	21045146, 23412794		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	12200042, 18716613, 31276497		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	12379465, 23894508	Associate	★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	10319867, 10552928, 10678659, 11356154, 12016592, 12200042, 12379465, 12734318, 12838562, 12915449, 12952869, 15221963, 15317757, 15558713, 15703196, 15897384, 15960976, 15964893, 16214424, 16271439, 16630167, 17264332, 17372760, 18430459, 18504617, 18716613, 18719387, 19177149, 19242607, 19291770, 19567405, 20004881, 20113479, 20222902, 20503338, 20618321, 20817924, 21418107, 21872685, 22039056, 22296597, 22357944, 22821900, 22885111, 23161009, 23276657, 23412794, 23683351, 24518840, 24832598, 24924172, 24960165, 26690729, 26906415, 27238185, 27287744, 28159839, 28486640, 29080750, 29229926, 29462647, 30206236, 30312871, 30594395, 31276497, 31303264, 31495919, 31772289		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	CLINGEN_DG	10319867, 10678659, 12734318, 12838562, 12915449, 15703196, 19567405, 20503338		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	CLINVAR_DG	10678659, 12734318, 17250521		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	GENOMICS_ENGLAND_DG	11471165, 16630167, 19291770, 20503338, 9934984		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	LHGDN	12016592, 15964893, 16214424, 18616953, 18647888		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	CTD_human_DG	18616953		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rothmund-Thomson syndrome type 2	Rothmund-Thomson Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	17253932, 22265015, 26956253		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	15924278	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	30188014		★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33328548, 36970058	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	19291770		★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17504382, 23874974	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	15750208	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	10552928, 10678659, 11356154, 18430459, 27238185		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	23650516, 23683351	Associate	★☆☆☆☆ Found in Text Mining only