FANCD2 (FA complementation group D2)

Gene

• Entrez ID: 2177
• Gene name: FA complementation group D2
• Gene symbol: FANCD2
• Synonyms (NCBI Gene): FA-D2, FA4, FACD, FAD, FAD2, FANCD
• Chromosome: 3
• Chromosome location: 3p25.3
• Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FAN

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112832879	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs121917787	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121917788	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs200118565	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs201811817	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs374328858	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs748688174	G>A,T	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs766567785	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs869312805	CCT>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs943009372	G>A	Likely-pathogenic	Splice donor variant
rs1289665675	C>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1553607671	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553608812	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1575723664	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016578	hsa-miR-193b-3p	Microarray	20304954
MIRT052045	hsa-let-7b-5p	CLASH	23622248
MIRT043406	hsa-miR-331-3p	CLASH	23622248
MIRT041043	hsa-miR-505-3p	CLASH	23622248
MIRT039141	hsa-miR-769-5p	CLASH	23622248
MIRT039141	hsa-miR-769-5p	CLASH	23622248
MIRT039141	hsa-miR-769-5p	CLASH	23622248
MIRT717060	hsa-miR-618	HITS-CLIP	19536157
MIRT717059	hsa-miR-34c-3p	HITS-CLIP	19536157
MIRT717058	hsa-miR-759	HITS-CLIP	19536157
MIRT717057	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT717060	hsa-miR-618	HITS-CLIP	19536157
MIRT717059	hsa-miR-34c-3p	HITS-CLIP	19536157
MIRT717058	hsa-miR-759	HITS-CLIP	19536157
MIRT717057	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT989021	hsa-miR-103a	CLIP-seq
MIRT989022	hsa-miR-107	CLIP-seq
MIRT989023	hsa-miR-1207-3p	CLIP-seq
MIRT989024	hsa-miR-1285	CLIP-seq
MIRT989025	hsa-miR-1301	CLIP-seq
MIRT989026	hsa-miR-1827	CLIP-seq
MIRT989027	hsa-miR-3153	CLIP-seq
MIRT989028	hsa-miR-3165	CLIP-seq
MIRT989029	hsa-miR-3187-5p	CLIP-seq
MIRT989030	hsa-miR-3622b-5p	CLIP-seq
MIRT989031	hsa-miR-3665	CLIP-seq
MIRT989032	hsa-miR-3672	CLIP-seq
MIRT989033	hsa-miR-3945	CLIP-seq
MIRT989034	hsa-miR-4253	CLIP-seq
MIRT989035	hsa-miR-4261	CLIP-seq
MIRT989036	hsa-miR-4280	CLIP-seq
MIRT989037	hsa-miR-4433	CLIP-seq
MIRT989038	hsa-miR-4459	CLIP-seq
MIRT989039	hsa-miR-4461	CLIP-seq
MIRT989040	hsa-miR-4646-5p	CLIP-seq
MIRT989041	hsa-miR-4668-5p	CLIP-seq
MIRT989042	hsa-miR-4722-5p	CLIP-seq
MIRT989043	hsa-miR-4768-3p	CLIP-seq
MIRT989044	hsa-miR-4793-3p	CLIP-seq
MIRT989045	hsa-miR-5047	CLIP-seq
MIRT989046	hsa-miR-508-5p	CLIP-seq
MIRT989047	hsa-miR-548aa	CLIP-seq
MIRT989048	hsa-miR-548c-3p	CLIP-seq
MIRT989049	hsa-miR-612	CLIP-seq
MIRT989050	hsa-miR-629	CLIP-seq
MIRT989051	hsa-miR-661	CLIP-seq
MIRT989052	hsa-miR-766	CLIP-seq
MIRT989053	hsa-miR-940	CLIP-seq
MIRT989054	hsa-miR-1234	CLIP-seq
MIRT989055	hsa-miR-150	CLIP-seq
MIRT989056	hsa-miR-1913	CLIP-seq
MIRT989057	hsa-miR-324-3p	CLIP-seq
MIRT989058	hsa-miR-520g	CLIP-seq
MIRT989059	hsa-miR-520h	CLIP-seq
MIRT989054	hsa-miR-1234	CLIP-seq
MIRT989055	hsa-miR-150	CLIP-seq
MIRT989056	hsa-miR-1913	CLIP-seq
MIRT989057	hsa-miR-324-3p	CLIP-seq
MIRT989058	hsa-miR-520g	CLIP-seq
MIRT989059	hsa-miR-520h	CLIP-seq
MIRT1993059	hsa-miR-1273f	CLIP-seq
MIRT989026	hsa-miR-1827	CLIP-seq
MIRT1993060	hsa-miR-24	CLIP-seq
MIRT1993061	hsa-miR-3122	CLIP-seq
MIRT989028	hsa-miR-3165	CLIP-seq
MIRT1993062	hsa-miR-3664-3p	CLIP-seq
MIRT989031	hsa-miR-3665	CLIP-seq
MIRT1993063	hsa-miR-3689a-3p	CLIP-seq
MIRT1993064	hsa-miR-3689c	CLIP-seq
MIRT1993065	hsa-miR-3689d	CLIP-seq
MIRT1993066	hsa-miR-3913-5p	CLIP-seq
MIRT1993067	hsa-miR-3919	CLIP-seq
MIRT1993068	hsa-miR-3929	CLIP-seq
MIRT1993069	hsa-miR-4284	CLIP-seq
MIRT1993070	hsa-miR-4419b	CLIP-seq
MIRT989037	hsa-miR-4433	CLIP-seq
MIRT989038	hsa-miR-4459	CLIP-seq
MIRT1993071	hsa-miR-4478	CLIP-seq
MIRT1993072	hsa-miR-4534	CLIP-seq
MIRT1993073	hsa-miR-4649-3p	CLIP-seq
MIRT1993074	hsa-miR-4695-5p	CLIP-seq
MIRT989042	hsa-miR-4722-5p	CLIP-seq
MIRT1993075	hsa-miR-4728-5p	CLIP-seq
MIRT1993076	hsa-miR-4736	CLIP-seq
MIRT1993077	hsa-miR-4756-3p	CLIP-seq
MIRT989043	hsa-miR-4768-3p	CLIP-seq
MIRT1993078	hsa-miR-4802-5p	CLIP-seq
MIRT1993079	hsa-miR-485-5p	CLIP-seq
MIRT1993080	hsa-miR-510	CLIP-seq
MIRT1993081	hsa-miR-512-5p	CLIP-seq
MIRT1993082	hsa-miR-550a	CLIP-seq
MIRT1993083	hsa-miR-607	CLIP-seq
MIRT989053	hsa-miR-940	CLIP-seq
MIRT1993059	hsa-miR-1273f	CLIP-seq
MIRT989055	hsa-miR-150	CLIP-seq
MIRT989026	hsa-miR-1827	CLIP-seq
MIRT2226996	hsa-miR-198	CLIP-seq
MIRT1993060	hsa-miR-24	CLIP-seq
MIRT1993061	hsa-miR-3122	CLIP-seq
MIRT989028	hsa-miR-3165	CLIP-seq
MIRT2226997	hsa-miR-3192	CLIP-seq
MIRT2226998	hsa-miR-3652	CLIP-seq
MIRT1993062	hsa-miR-3664-3p	CLIP-seq
MIRT989031	hsa-miR-3665	CLIP-seq
MIRT1993063	hsa-miR-3689a-3p	CLIP-seq
MIRT1993064	hsa-miR-3689c	CLIP-seq
MIRT1993066	hsa-miR-3913-5p	CLIP-seq
MIRT1993068	hsa-miR-3929	CLIP-seq
MIRT1993069	hsa-miR-4284	CLIP-seq
MIRT2226999	hsa-miR-4300	CLIP-seq
MIRT1993070	hsa-miR-4419b	CLIP-seq
MIRT2227000	hsa-miR-4430	CLIP-seq
MIRT989037	hsa-miR-4433	CLIP-seq
MIRT989038	hsa-miR-4459	CLIP-seq
MIRT1993071	hsa-miR-4478	CLIP-seq
MIRT2227001	hsa-miR-4505	CLIP-seq
MIRT1993072	hsa-miR-4534	CLIP-seq
MIRT2227002	hsa-miR-455-5p	CLIP-seq
MIRT1993073	hsa-miR-4649-3p	CLIP-seq
MIRT2227003	hsa-miR-4661-5p	CLIP-seq
MIRT1993074	hsa-miR-4695-5p	CLIP-seq
MIRT989042	hsa-miR-4722-5p	CLIP-seq
MIRT1993075	hsa-miR-4728-5p	CLIP-seq
MIRT1993076	hsa-miR-4736	CLIP-seq
MIRT989043	hsa-miR-4768-3p	CLIP-seq
MIRT1993079	hsa-miR-485-5p	CLIP-seq
MIRT1993080	hsa-miR-510	CLIP-seq
MIRT1993081	hsa-miR-512-5p	CLIP-seq
MIRT1993082	hsa-miR-550a	CLIP-seq
MIRT2227004	hsa-miR-920	CLIP-seq
MIRT989053	hsa-miR-940	CLIP-seq
MIRT989043	hsa-miR-4768-3p	CLIP-seq
MIRT989024	hsa-miR-1285	CLIP-seq
MIRT989026	hsa-miR-1827	CLIP-seq
MIRT1993061	hsa-miR-3122	CLIP-seq
MIRT989028	hsa-miR-3165	CLIP-seq
MIRT989029	hsa-miR-3187-5p	CLIP-seq
MIRT989030	hsa-miR-3622b-5p	CLIP-seq
MIRT989031	hsa-miR-3665	CLIP-seq
MIRT1993063	hsa-miR-3689a-3p	CLIP-seq
MIRT1993064	hsa-miR-3689c	CLIP-seq
MIRT1993066	hsa-miR-3913-5p	CLIP-seq
MIRT1993068	hsa-miR-3929	CLIP-seq
MIRT989033	hsa-miR-3945	CLIP-seq
MIRT989034	hsa-miR-4253	CLIP-seq
MIRT1993070	hsa-miR-4419b	CLIP-seq
MIRT1993071	hsa-miR-4478	CLIP-seq
MIRT2227002	hsa-miR-455-5p	CLIP-seq
MIRT1993073	hsa-miR-4649-3p	CLIP-seq
MIRT1993075	hsa-miR-4728-5p	CLIP-seq
MIRT1993076	hsa-miR-4736	CLIP-seq
MIRT1993079	hsa-miR-485-5p	CLIP-seq
MIRT989047	hsa-miR-548aa	CLIP-seq
MIRT989048	hsa-miR-548c-3p	CLIP-seq
MIRT1993082	hsa-miR-550a	CLIP-seq
MIRT989049	hsa-miR-612	CLIP-seq
MIRT989053	hsa-miR-940	CLIP-seq
MIRT989024	hsa-miR-1285	CLIP-seq
MIRT989026	hsa-miR-1827	CLIP-seq
MIRT1993061	hsa-miR-3122	CLIP-seq
MIRT989028	hsa-miR-3165	CLIP-seq
MIRT989029	hsa-miR-3187-5p	CLIP-seq
MIRT989030	hsa-miR-3622b-5p	CLIP-seq
MIRT1993062	hsa-miR-3664-3p	CLIP-seq
MIRT989031	hsa-miR-3665	CLIP-seq
MIRT1993063	hsa-miR-3689a-3p	CLIP-seq
MIRT1993064	hsa-miR-3689c	CLIP-seq
MIRT1993066	hsa-miR-3913-5p	CLIP-seq
MIRT1993068	hsa-miR-3929	CLIP-seq
MIRT989033	hsa-miR-3945	CLIP-seq
MIRT989034	hsa-miR-4253	CLIP-seq
MIRT1993070	hsa-miR-4419b	CLIP-seq
MIRT989037	hsa-miR-4433	CLIP-seq
MIRT989038	hsa-miR-4459	CLIP-seq
MIRT1993071	hsa-miR-4478	CLIP-seq
MIRT2227002	hsa-miR-455-5p	CLIP-seq
MIRT1993073	hsa-miR-4649-3p	CLIP-seq
MIRT1993074	hsa-miR-4695-5p	CLIP-seq
MIRT1993075	hsa-miR-4728-5p	CLIP-seq
MIRT1993076	hsa-miR-4736	CLIP-seq
MIRT989043	hsa-miR-4768-3p	CLIP-seq
MIRT1993079	hsa-miR-485-5p	CLIP-seq
MIRT1993080	hsa-miR-510	CLIP-seq
MIRT1993081	hsa-miR-512-5p	CLIP-seq
MIRT989047	hsa-miR-548aa	CLIP-seq
MIRT989048	hsa-miR-548c-3p	CLIP-seq
MIRT1993082	hsa-miR-550a	CLIP-seq
MIRT989049	hsa-miR-612	CLIP-seq
MIRT989053	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	NAS	19965384
GO:0000793	Component	Condensed chromosome	IBA
GO:0000793	Component	Condensed chromosome	IEA
GO:0005515	Function	Protein binding	IPI	12874027, 15115758, 17460694, 18212739, 19609304, 20603015, 20603016, 20603073, 20805509, 35384245, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26323318
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007276	Process	Gamete generation	IEA
GO:0010332	Process	Response to gamma radiation	IDA	12874027
GO:0016604	Component	Nuclear body	IDA
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IBA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0045589	Process	Regulation of regulatory T cell differentiation	IEA
GO:0048854	Process	Brain morphogenesis	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0070182	Function	DNA polymerase binding	IBA
GO:0070182	Function	DNA polymerase binding	IPI	19995904
GO:0097150	Process	Neuronal stem cell population maintenance	IEA
GO:1990391	Component	DNA repair complex	IPI	32269332
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	IBA
GO:2000348	Process	Regulation of CD40 signaling pathway	IEA

Other IDs

• MIM: 613984
• HGNC: 3585
• e!Ensembl: ENSG00000144554

Protein

• UniProt ID: Q9BXW9
• Protein name: Fanconi anemia group D2 protein (Protein FACD2)
• Protein function: Required for maintenance of chromosomal stability (PubMed:11239453, PubMed:14517836). Promotes accurate and efficient pairing of homologs during meiosis (PubMed:14517836). Involved in the repair of DNA double-strand breaks, both by homologous re
• PDB: 6VAA, 6VAD, 6VAE, 6VAF, 7AY1, 7KZQ, 7KZR, 7KZS, 7KZT, 7KZV, 7ZF1, 8A9J, 8A9K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14631	FancD2	1 → 1415	Fanconi anaemia protein FancD2 nuclease	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic
• Sequence:

  MVSKRRLSKSEDKESLTEDASKTRKQPLSKKTKKSHIANEVEENDSIFVKLLKISGIILK
  TGESQNQLAVDQIAFQKKLFQTLRRHPSYPKIIEEFVSGLESYIEDEDSFRNCLLSCERL
  QDEEASMGASYSKSLIKLLLGIDILQPAIIKTLFEKLPEYFFENKNSDEINIPRLIVSQL
  KWLDRVVDGKDLTTKIMQLISIAPENLQHDIITSLPEILGDSQHADVGKELSDLLIENTS
  LTVPILDVLSSLRLDPNFLLKVRQLVMDKLSSIRLEDLPVIIKFILHSVTAMDTLEVISE
  LREKLDLQHCVLPSRLQASQVKLKSKGRASSSGNQESSGQSCIILLFDVIKSAIRYEKTI
  SEAWIKAIENTASVSEHKVFDLVMLFIIYSTNTQTKKYIDRVLRNKIRSGCIQEQLLQST
  FSVHYLVLKDMCSSILSLAQSLLHSLDQSIISFGSLLYKYAFKFFDTYCQQEVVGALVTH
  ICSGNEAEVDTALDVLLELVVLNPSAMMMNAVFVKGILDYLDNISPQQIRKLFYVLSTLA
  FSKQNEASSHIQDDMHLVIRKQLSSTVFKYKLIGIIGAVTMAGIMAADRSESPSLTQERA
  NLSDEQCTQVTSLLQLVHSCSEQSPQASALYYDEFANLIQHEKLDPKALEWVGHTICNDF
  QDAFVVDSCVVPEGDFPFPVKALYGLEEYDTQDGIAINLLPLLFSQDFAKDGGPVTSQES
  GQKLVSPLCLAPYFRLLRLCVERQHNGNLEEIDGLLDCPIFLTDLEPGEKLESMSAKERS
  FMCSLIFLTLNWFREIVNAFCQETSPEMKGKVLTRLKHIVELQIILEKYLAVTPDYVPPL
  GNFDVETLDITPHTVTAISAKIRKKGKIERKQKTDGSKTSSSDTLSEEKNSECDPTPSHR
  GQLNKEFTGKEEKTSLLLHNSHAFFRELDIEVFSILHCGLVTKFILDTEMHTEATEVVQL
  GPPELLFLLEDLSQKLESMLTPPIARRVPFLKNKGSRNIGFSHLQQRSAQEIVHCVFQLL
  TPMCNHLENIHNYFQCLAAENHGVVDGPGVKVQEYHIMSSCYQRLLQIFHGLFAWSGFSQ
  PENQNLLYSALHVLSSRLKQGEHSQPLEELLSQSVHYLQNFHQSIPSFQCALYLIRLLMV
  ILEKSTASAQNKEKIASLARQFLCRVWPSGDKEKSNISNDQLHALLCIYLEHTESILKAI
  EEIAGVGVPELINSPKDASSSTFPTLTRHTFVVFFRVMMAELEKTVKKIEPGTAADSQQI
  HEEKLLYWNMAVRDFSILINLIKVFDSHPVLHVCLKYGRLFVEAFLKQCMPLLDFSFRKH
  REDVLSLLETFQLDTRLLHHLCGHSKIHQDTRLTQHVPLLKKTLELLVCRVKAMLTLNNC
  REAFWLGNLKNRDLQGEEIKSQNSQESTADESEDDMSSQASKSKATEDGEEDEVSAGEKE
  QDSDESYDDSD

• Sequence length: 1451

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

Fanconi Anemia Pathway
TP53 Regulates Transcription of DNA Repair Genes

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
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs112832879	RCV003234557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic	rs146316187	RCV005937411	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs201811817	RCV005902148	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FANCD2-related disorder	Pathogenic; Likely pathogenic	rs1434069831, rs766567785, rs2469965228, rs2086918352, rs748180733	RCV004731249 RCV004754365 RCV003404435 RCV003420938 RCV003901088	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Likely pathogenic; Pathogenic	rs777719596, rs779552164, rs2086865775, rs2124989402, rs757567225, rs762724830, rs775517107, rs1419879344, rs148471911, rs954149471, rs2124974541, rs369022159, rs770835633, rs1283566463, rs770686014, rs755350165, rs2086805219, rs1378830983, rs745930696, rs761074497, rs2125072527, rs2124961184, rs1247410343, rs2125081509, rs141783465, rs2125032674, rs2125077559, rs2124974621, rs2125000318, rs1223055462, rs2124970985, rs2125060144, rs954555240, rs531943246, rs2125000228, rs2470049828, rs748688174, rs866731784, rs2470015718, rs2125059701, rs2470034399, rs1007481549, rs2470014730, rs1693635796, rs1693432220, rs2125069514, rs2470753672, rs766567785, rs2125000569, rs121917786, rs121917787, rs121917788, rs2086918352, rs1378153259, rs748180733, rs2469993551, rs2470086249, rs755464133, rs1477306020, rs962867926, rs774707377, rs758121289, rs2470758691, rs2470047020, rs2125076614, rs747604554, rs2470014699, rs1307143430, rs2125035374, rs1349881828, rs747450518, rs2470740565, rs1468320596, rs2470748827, rs2470719043, rs2125086228, rs2469965487, rs2470081071, rs2470754013, rs2469997346, rs2086917516, rs2470721408, rs2469968856, rs2470719334, rs2470014831, rs1356755641, rs2470056889, rs2469997242, rs2470719599, rs2086920799, rs2469933167, rs2469966729, rs2469997398, rs2469972086, rs2469975881, rs2470740493, rs1054458237, rs2125095244, rs2470057285, rs2470740571, rs2469972032, rs2470034195, rs2469968584, rs777594776, rs1004943548, rs765576835, rs2469932773, rs1694823880, rs1694373057, rs2470719712, rs1185068065, rs2470759599, rs2469902547, rs1252959923, rs2469975972, rs2470081305, rs2470086003, rs2470739404, rs2469968826, rs2469932873, rs747469438, rs2470759676, rs2470708927, rs2470076248, rs1575723664, rs1693439187, rs756475711, rs147532349, rs2469955401, rs2470014781, rs758475123, rs146316187, rs1411877055, rs112832879, rs1553607671, rs1289665675, rs943009372, rs374328858, rs201811817, rs764507146, rs2086862509, rs779350241, rs1374735618, rs762544228, rs1693433379, rs1559403654, rs757499508, rs763733996, rs1459222478, rs1221526082, rs1694376599, rs2087674573	RCV001379297 RCV001378519 RCV001380571 RCV001385764 RCV001390067 RCV001389630 RCV001382198 RCV001383373 RCV001386981 RCV001384826 RCV001615373 RCV002032693 RCV003523107 RCV003772136 RCV002256840 RCV001885160 RCV005095132 RCV005095133 RCV001885181 RCV001806732 RCV002545180 RCV002048995 RCV002004937 RCV001966450 RCV002040195 RCV002014522 RCV001999489 RCV001939570 RCV001972482 RCV001970196 RCV002030604 RCV001953679 RCV001883679 RCV003635983 RCV002257026 RCV002282933 RCV003066428 RCV002614801 RCV002620636 RCV002889459 RCV002894029 RCV002903032 RCV002877578 RCV002909260 RCV002985384 RCV002998835 RCV003040971 RCV000234321 RCV003155819 RCV002512995 RCV000809924 RCV003522920 RCV003778327 RCV003636019 RCV003779026 RCV003779027 RCV003636022 RCV003779028 RCV003523184 RCV003636023 RCV003636024 RCV003636025 RCV003523225 RCV003523213 RCV003524051 RCV003525006 RCV003525074 RCV003525041 RCV003525098 RCV003525114 RCV003523429 RCV003523467 RCV003523679 RCV003523746 RCV003524735 RCV003523860 RCV003524654 RCV003524491 RCV003524681 RCV003522781 RCV003522782 RCV003522751 RCV003522815 RCV003522626 RCV003636063 RCV003636201 RCV003636229 RCV003636985 RCV003637005 RCV003636951 RCV003636948 RCV003637265 RCV003637281 RCV003637303 RCV003637743 RCV003637647 RCV003638054 RCV003637887 RCV003637889 RCV003637985 RCV003638109 RCV003635459 RCV003635503 RCV003635552 RCV003635620 RCV003636450 RCV003636471 RCV003635794 RCV003635870 RCV003636413 RCV003636490 RCV003636774 RCV003636625 RCV003636664 RCV003636616 RCV003636717 RCV003636847 RCV003637545 RCV003637581 RCV003636803 RCV003817531 RCV003830599 RCV003836808 RCV003842863 RCV003841064 RCV003840639 RCV003855351 RCV003859306 RCV003868326 RCV003860382 RCV003879484 RCV003877335 RCV003880706 RCV004018327 RCV005101928 RCV002256229 RCV000630932 RCV000630893 RCV000699836 RCV000808868 RCV000826140 RCV001869401 RCV003635944 RCV004526811 RCV002282477 RCV003523079 RCV005094035 RCV005094036 RCV003523080 RCV002255624 RCV001204226 RCV001210618 RCV001235668 RCV001238768 RCV001245027	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group D2	Likely pathogenic; Pathogenic	rs779552164, rs2086865775, rs757567225, rs762724830, rs775517107, rs1419879344, rs148471911, rs2124975164, rs2124974541, rs369022159, rs770835633, rs2125035511, rs1283566463, rs770686014, rs1206160345, rs2125076610, rs2125059924, rs755350165, rs2086805219, rs1378830983, rs2125072480, rs745930696, rs2124961184, rs141783465, rs2125032674, rs1223055462, rs1294791314, rs1434069831, rs531943246, rs2125000228, rs2470039418, rs866731784, rs1007481549, rs1693432220, rs2125069514, rs766567785, rs121917786, rs121917787, rs121917788, rs1378153259, rs748180733, rs2125100684, rs1241934841, rs2470708647, rs2470740247, rs2086688174, rs2469993551, rs2470086249, rs748843683, rs1694160600, rs2470753655, rs765840374, rs2470719345, rs748006255, rs2470758466, rs2470709565, rs2469996846, rs1449126896, rs2469993783, rs755464133, rs778990634, rs2087133817, rs2470740190, rs375951862, rs1301819180, rs776906387, rs2469959812, rs1477306020, rs2470076242, rs1249534623, rs2470034263, rs1165584356, rs781626919, rs2470721359, rs2470034575, rs762406982, rs2470066559, rs2470721256, rs962867926, rs1445228076, rs774707377, rs758121289, rs2469997112, rs747604554, rs1349881828, rs2469966729, rs2469975972, rs1575723664, rs1693439187, rs2470076599, rs2125026697, rs768907834, rs2125000516, rs2469992237, rs2470005127, rs1411877055, rs2470748717, rs2470034920, rs2470740571, rs2469966681, rs2125095183, rs765576835, rs2125034187, rs2470709513, rs2470719792, rs2470758441, rs2470758145, rs2469976074, rs1694168766, rs112832879, rs1553608812, rs1553607671, rs1289665675, rs943009372, rs1559399574, rs374328858, rs201811817, rs1468320596, rs1575824608, rs771573600, rs764507146, rs2086819957, rs2086862509, rs2086865333, rs2086921262, rs779894573, rs2087073639, rs1181436417, rs2087653225, rs779350241, rs1374735618, rs762544228, rs1693433379, rs1693439048, rs1559403654, rs1694404041, rs757499508, rs2087125303, rs763733996, rs1221526082	RCV002221627 RCV002476719 RCV003463034 RCV002499814 RCV003462982 RCV003469692 RCV004570965 RCV001535858 RCV003470873 RCV003464125 RCV001783252 RCV001783253 RCV001783254 RCV001783255 RCV001783257 RCV001783258 RCV003460194 RCV001783260 RCV001781082 RCV001781083 RCV001781085 RCV001781086 RCV002486780 RCV003471250 RCV002507683 RCV003464310 RCV002249977 RCV002249978 RCV004572090 RCV005025744 RCV002283977 RCV004572787 RCV003464634 RCV005034545 RCV004572505 RCV001194923 RCV000012818 RCV000012820 RCV000012821 RCV004572976 RCV003468123 RCV003460189 RCV003460190 RCV003460191 RCV003468124 RCV003468126 RCV003460192 RCV003468127 RCV003468128 RCV003460193 RCV003460195 RCV003460196 RCV003468130 RCV003460197 RCV003460198 RCV003468131 RCV003460200 RCV003460201 RCV003460202 RCV003460203 RCV003460204 RCV003460206 RCV003460207 RCV003460208 RCV003468132 RCV003468133 RCV003460209 RCV003460210 RCV003460211 RCV003468134 RCV003460213 RCV003468135 RCV003460214 RCV003468136 RCV003460215 RCV003468137 RCV003468138 RCV003468139 RCV003460216 RCV003460217 RCV003468140 RCV003460218 RCV003460219 RCV003460220 RCV003486315 RCV004574082 RCV004796819 RCV004574268 RCV005037008 RCV005871342 RCV004573361 RCV004576541 RCV004576542 RCV004576543 RCV004576544 RCV004576545 RCV004576546 RCV004576547 RCV004576548 RCV004576549 RCV004576550 RCV004576551 RCV004576552 RCV004576553 RCV004576555 RCV004576556 RCV004576557 RCV004576558 RCV004576559 RCV004576560 RCV004576561 RCV001535895 RCV000501192 RCV005027744 RCV001784202 RCV001194902 RCV000761274 RCV001194906 RCV001194925 RCV001784532 RCV001003800 RCV001003801 RCV001194900 RCV001194901 RCV001194903 RCV001194904 RCV001194905 RCV001194910 RCV001194911 RCV001194915 RCV001194916 RCV001194920 RCV001194921 RCV001194922 RCV001194924 RCV001194926 RCV001194927 RCV001194929 RCV001194930 RCV001194933 RCV001194917 RCV002491613 RCV005029810	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphoma	Pathogenic	rs201811817	RCV005902149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic	rs146316187	RCV005937412	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic short statue	Pathogenic	rs201811817	RCV005865400	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs2470740565	RCV006274431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs540805431	RCV003154802	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1356755641	RCV005931598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pigmentary skin disorders	Pathogenic	rs201811817	RCV006255184	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi anemia complementation group A	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatoblastoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	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	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	Pubtator	40415137	Associate	★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	15886296		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	7531687		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	35500219	Associate	★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	31633027	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	16344340, 8525799		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24192669		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	17308347, 17384638, 19609304, 20456353, 21389083, 23318456, 25071006, 27208205, 27405460, 32269332, 32409752, 36385258, 36894310, 8896563	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	11916749		★☆☆☆☆ Found in Text Mining only
Antley-Bixler Syndrome, Autosomal Dominant	Antley-Bixler Syndrome	BEFREE	18455494		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia, Progressive	Aphasia	BEFREE	8080245		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	16474167		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	11733219, 12435850, 12447395		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	25736055		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	25736055	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27399778		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	LHGDN	15257300		★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	12393398		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	17333336, 28386063		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11239454, 11530803, 11751423, 12383764, 12915460, 15107617, 17352736, 22952942, 23357080, 23897704, 27646721, 28386063, 29605812, 30799775, 30881493		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	23440494	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17333336, 19671671, 21766209, 22952942, 23063585, 23897704, 28386063, 29605812, 30799775	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18475298, 19428384, 23965832, 23993743, 28157704, 32420600, 38104669, 40237267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25176410	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20509860, 37599085, 40237267, 40287803	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37821996	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27399778		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26438152		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32688345, 36081434	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26819410, 29118324, 33883185	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16493006		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11916749		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28196964, 28827680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	28196964, 28827680		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	18475298, 38104669	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	27023477		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20339950		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15886296, 25669972	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	25669972		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	36011265	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17304220, 20347429, 21203397, 21478198, 23319047, 29590434		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	2314579		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28591462		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10491312, 11822825, 31184536, 7821738, 8621016		★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	40237267	Stimulate	★☆☆☆☆ Found in Text Mining only
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine Dehydrogenase Deficiency	BEFREE	21420945		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	31298959		★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24508840		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29955143, 38218826	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31445519		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	21279724	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21279724	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10934205, 15776278, 17522104, 20032300, 26051801, 26481686, 29690919, 31726777, 3210054, 8080245, 9822738		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	11239453, 17308347, 17436244, 23613520		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	11239453, 11239454, 19686080		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	BEFREE	11239454, 11530803, 11673408, 11719385, 11733219, 11750104, 11854176, 12001267, 12086603, 12093742, 12239156, 12383764, 12393398, 12444097, 12447395, 12507559, 12967657, 12973351, 14630800, 14667412, 15383454, 15502827, 15661754, 15694335, 16116421, 16116424, 16127171, 16154163, 16168378, 16474167, 16513431, 16720839, 16784902, 17096012, 17221219, 17304220, 17308347, 17352736, 17387268, 17436244, 17460694, 17471025, 17490643, 17671210, 18047734, 18180189, 18277096, 18448394, 18544920, 18550849, 18771529, 18851838, 18931676, 19048618, 19287902, 19405097, 19423727, 19519404, 19805513, 20034732, 20347428, 20509860, 20519958, 20675655, 20921626, 20935219, 21389083, 21466675, 21519342, 21723207, 21926477, 22036606, 22408259, 22484854, 22537224, 22611161, 22623785, 22705371, 22829014, 22855611, 22872141, 22987153, 23318456, 23370339, 23435420, 23440494, 23633493, 23779253, 24025411, 24278431, 24286411, 24317781, 24451376, 24469828, 24556218, 24626199, 24658369, 24794434, 24905007, 25066130, 25071006, 25434823, 25486561, 25489943, 25542235, 25647473, 25801034, 25853498, 25893307, 26085575, 26119737, 26385482, 26430909, 26438152, 26466335, 26584049, 26637282, 26765540, 26819410, 26848151, 26883629, 27083049, 27351285, 27373334, 27399778, 27405460, 27915139, 27986371, 28098879, 28174693, 28196964, 28315701, 28378742, 28490629, 28535027, 28636932, 28666371, 28678401, 28825622, 29021208, 29031493, 29051491, 29059323, 29089570, 29118324, 29247345, 29514982, 29605812, 29968717, 29973652, 30022024, 30031030, 30057198, 30254368, 30335751, 30450770, 30715513, 30789902, 31078270, 31085681, 31167143, 31219578, 31472450, 31586946, 31633027, 31639439, 31666700, 9838922		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	11750104, 12086603, 12239156, 12393398, 14630800, 15199141, 15314022, 15383454, 15849361, 16116422, 16127171, 16893675, 16916645, 17333336, 17387268, 17436244, 17898070, 18082604, 18277096, 18325101, 18438432, 18448394, 18672388, 19075014, 19150983, 19287902, 19405097, 19423727, 20089964, 20676667, 20967207, 20971953, 21279724, 21355096, 21478670, 21685936, 21801876, 22219386, 22408259, 22623785, 22789542, 22872141, 22987153, 23440494, 23965832, 24451376, 24556218, 24626199, 24885126, 25051366, 25176410, 25216266, 25659033, 25801034, 25893307, 26046368, 26085575, 26119737, 26765540, 26825464, 26848151, 27239033, 27277787, 27399778, 27819275, 27986371, 28535027, 28666371, 28678401, 29030393, 29394375, 29400309, 29605812, 29891926, 29973652, 30031030, 30431240, 30450770, 30715513, 30789902, 30818369, 31085681, 31253762, 31525021, 31628488, 31633027, 32106311, 32167469, 32350107, 32420600, 32735670, 33795880, 34096775, 35163588, 36364114, 36480547, 39365306	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CTD_human_DG	14667412		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	14988723, 15377654, 15650050, 16127171, 17898070, 18029388		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	16720839, 18174376, 23993743, 29059323, 38104669	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia Complementation Group J	Fanconi anemia	Pubtator	25070891	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	11239454, 11530803, 11673408, 11719385, 11733219, 11750104, 11854176, 12086603, 12239156, 12383764, 12393398, 12444097, 12507559, 12637330, 12967657, 12973351, 14630800, 14667412, 15383454, 15502827, 15661754, 15694335, 16116421, 16116424, 16127171, 16154163, 16168378, 16474167, 16513431, 16720839, 16784902, 17096012, 17221219, 17304220, 17352736, 17387268, 17436244, 17460694, 17471025, 17490643, 17671210, 18047734, 18180189, 18277096, 18448394, 18544920, 18550849, 18771529, 18851838, 18931676, 19048618, 19287902, 19405097, 19423727, 19519404, 19805513, 20034732, 20347428, 20509860, 20519958, 20675655, 20921626, 20935219, 21466675, 21519342, 21723207, 22036606, 22408259, 22484854, 22537224, 22611161, 22623785, 22705371, 22855611, 22872141, 22987153, 23370339, 23435420, 23440494, 23633493, 23779253, 24025411, 24278431, 24286411, 24317781, 24451376, 24469828, 24556218, 24626199, 24658369, 24794434, 25066130, 25434823, 25486561, 25489943, 25542235, 25647473, 25801034, 25853498, 25893307, 26085575, 26119737, 26385482, 26430909, 26438152, 26466335, 26584049, 26637282, 26765540, 26819410, 26848151, 26883629, 27083049, 27351285, 27373334, 27399778, 27915139, 27986371, 28098879, 28174693, 28196964, 28315701, 28378742, 28490629, 28535027, 28636932, 28666371, 28678401, 28825622, 29021208, 29031493, 29051491, 29059323, 29089570, 29118324, 29247345, 29514982, 29605812, 29968717, 29973652, 30022024, 30031030, 30057198, 30254368, 30335751, 30450770, 30715513, 30789902, 31078270, 31085681, 31167143, 31219578, 31472450, 31633027, 31639439		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	BEFREE	29089570		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	UNIPROT_DG	11239453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	GENOMICS_ENGLAND_DG	11239453, 11239454, 12893777, 19686080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	CLINVAR_DG	11239453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	BEFREE	15661754, 17412408, 19048618, 20339950, 21775430, 23303771, 24001775, 27694619, 27998970, 29021208, 30650351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP F	Fanconi Anemia	BEFREE	22952942		★☆☆☆☆ Found in Text Mining only
Favism	Favism	BEFREE	11916749		★☆☆☆☆ Found in Text Mining only
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	BEFREE	20598602		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33328484	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35962621	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22484854, 25071006		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25071006, 32484805	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21420945		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	24501220		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	15107617, 25647473		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	32106311	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	27637088		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	37821996	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	17333336	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31708792		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33270637	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24688021	Inhibit	★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 13	Immunodeficiency	BEFREE	26338419, 29590434		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31082410, 31121563		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	Interstitial Nephritis	BEFREE	29051491		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	27023477		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15886296, 25647473		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15886296	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15886296	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	15886296		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	16344340		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20509860, 28855448		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26385482	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	15107617, 25647473		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11239454, 11530803, 11751423, 12383764, 12915460, 15107617, 17333336, 17352736, 22952942, 23357080, 23897704, 28386063, 29605812, 30799775, 30881493		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24508840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26438152		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16493006		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15277238		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27399778		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11916749, 15107617, 16474167, 17643815, 23779253, 24658369, 26111032, 26838129, 28687786, 29051491, 29719197, 30615965, 31091472		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	23806336		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28196964, 28827680		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16648566, 17333336, 23063585		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16679306		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	8621016		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26980768		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35232428	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28591462		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	19380173		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	22905093	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30318261		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33514811	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19934314	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31091472		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15886296		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	15886296		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	15886296	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	21203397, 21519342		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	27015438		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28464439		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	38253721	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17096012, 18000367, 18241037, 18277096, 22829014, 22833573, 23806336, 23897704, 24508840, 25071006, 25669972, 26848151, 27264184, 29955143		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26971934, 31091472		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	11733219		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	28196964		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36814203	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	23063585	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16493006		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23063585, 30822218, 32180586, 34861889, 39456660	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15277238		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15277238	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	25434823, 27208205, 31472450		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	27637088		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	25326153		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	17096012, 22829014		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	2314579		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	29659569	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29659569, 34897998	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	22829014		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	23806336		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	16679306, 17333336, 19536649, 30881493		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26819410		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28678401, 36768994	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28350060		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36011265	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26294743		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34748904	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25316812, 27399778	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24708616, 29995652	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	23318456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	23318456	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Werner Syndrome	Werner Syndrome	BEFREE	11733219		★☆☆☆☆ Found in Text Mining only