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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs112832879	RCV003234557
Colon adenocarcinoma	Likely pathogenic	rs146316187	RCV005937411
Familial cancer of breast	Pathogenic	rs201811817	RCV005902148
FANCD2-related disorder	Pathogenic; Likely pathogenic	rs1434069831, rs766567785, rs2469965228, rs2086918352, rs748180733	RCV004731249 RCV004754365 RCV003404435 RCV003420938 RCV003901088
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
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
Lymphoma	Pathogenic	rs201811817	RCV005902149
Malignant tumor of esophagus	Likely pathogenic	rs146316187	RCV005937412
Monogenic short statue	Pathogenic	rs201811817	RCV005865400
Neoplasm	Likely pathogenic	rs2470740565	RCV006274431
Ovarian cancer	Likely pathogenic	rs540805431	RCV003154802
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1356755641	RCV005931598
Pigmentary skin disorders	Pathogenic	rs201811817	RCV006255184
See cases	Likely pathogenic; Pathogenic	rs531943246	RCV002252370

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Uncertain significance; Benign	rs2125047914, rs4019783	RCV005911249 RCV005929935
Cholangiocarcinoma	Benign; Likely benign	rs35017428, rs34363202, rs9809061, rs750338758, rs375350046	RCV005922211 RCV005929942 RCV005891387 RCV005871476 RCV005870678
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs34363202	RCV005929944
Cleft palate	Uncertain significance	rs766605179	RCV001270121
Familial pancreatic carcinoma	Likely benign	rs34363202	RCV005929938
Fanconi anemia complementation group A	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs145522204, rs36070315, rs3864017, rs4019784, rs34046352, rs766605179, rs72492997, rs72492998, rs35110529, rs376349741, rs372534421, rs201770712, rs1575797993, rs1575797996, rs1575798002, rs771078251, rs773716319	RCV000987100 RCV000987101 RCV000987103 RCV000987102 RCV000987095 RCV000987109 RCV000987097 RCV000987099 RCV000987093 RCV000987098 RCV000987094 RCV000987096 RCV000987104 RCV000987105 RCV000987106 RCV000987107 RCV000987108
Global developmental delay	Uncertain significance	rs766605179	RCV001270121
Hepatoblastoma	Conflicting classifications of pathogenicity; Uncertain significance	rs540805431, rs767806932	RCV001843527 RCV001843544
Hepatocellular carcinoma	Benign	rs9809061	RCV005891383
Hereditary breast ovarian cancer syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs34810856, rs35403996, rs34157687, rs140083233, rs7625685, rs774013442, rs36042034, rs115247173, rs35782247, rs36070315, rs3864017, rs35495399, rs36084488, rs35173688, rs749767303, rs200170760, rs2086682138, rs2086684186, rs45593431, rs147890891, rs9825871, rs2125006145, rs2087247418, rs9682264, rs1281020807, rs764832852, rs4019783, rs190777319, rs182673439, rs199789970, rs3843378, rs2125054738, rs2125069569, rs766103472, rs2125077451, rs374988769, rs201623111, rs34363202, rs1348547984, rs3864015, rs4019784, rs375412395, rs9833228, rs17032278, rs35749514, rs17032283, rs9879080, rs9809061, rs34046352, rs7615646, rs10222446, rs6785756, rs9809716, rs34323624, rs35594075, rs145953386, rs6805869, rs777197502, rs9811771, rs2272125, rs2272124, rs72492997, rs460965, rs17032279, rs73126218, rs574054963, rs3732974, rs112887807, rs72492998, rs7626117, rs7647987, rs190990145, rs55980657, rs769844392	RCV002225866 RCV002225870 RCV002225900 RCV002225901 RCV002225912 RCV002225913 RCV002225933 RCV002225934 RCV002225375 RCV002225376 RCV002225377 RCV002225378 RCV002225379 RCV002225380 RCV002226344 RCV002226345 RCV002226346 RCV002226347 RCV002226348 RCV002226350 RCV002226351 RCV002226352 RCV002226354 RCV002226355 RCV002226356 RCV002226357 RCV002226358 RCV002226359 RCV002226360 RCV002226361 RCV002226362 RCV002226363 RCV002226364 RCV002226366 RCV002226367 RCV002226368 RCV002226369 RCV002226370 RCV002226371 RCV002225497 RCV002225505 RCV002225530 RCV002225556 RCV002225554 RCV002225555 RCV002225557 RCV002225558 RCV002225559 RCV002225541 RCV002225542 RCV002225543 RCV002225544 RCV002225545 RCV002225546 RCV002225547 RCV002225548 RCV002225549 RCV002225550 RCV002225551 RCV002225552 RCV002225553 RCV002225595 RCV002225600 RCV002225594 RCV002225598 RCV002225599 RCV002225593 RCV002225596 RCV002225597 RCV002225601 RCV002225602 RCV002225629 RCV002225628 RCV002225755
Hereditary cancer	Likely benign	rs1000254003	RCV003492895
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	rs147523071, rs36070315, rs36084488, rs587778331, rs35173688, rs34936017, rs202028246, rs9833228, rs3732974, rs372574627	RCV005638436 RCV005638437 RCV005251072 RCV005859337 RCV005638438 RCV005638439 RCV005638622 RCV005638475 RCV005638489 RCV005859349
Intellectual disability	Uncertain significance	rs766605179	RCV001270121
Lung cancer	Conflicting classifications of pathogenicity	rs369823368	RCV005868104
Malignant lymphoma, large B-cell, diffuse	Benign	rs9809061, rs750338758	RCV005891385 RCV005871475
Malignant tumor of breast	Conflicting classifications of pathogenicity	rs147523071	RCV001004843
Malignant tumor of urinary bladder	Uncertain significance	rs771078251	RCV005912144
Nonpapillary renal cell carcinoma	Benign	rs73126218	RCV005897567
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs139929432, rs140083233, rs34363202, rs201408009	RCV005911259 RCV005918626 RCV005929940 RCV005901241
Pituitary stalk interruption syndrome	Uncertain significance	rs2087024588	RCV001257284
Sarcoma	Likely benign	rs34363202	RCV005929939
Thymoma	Benign; Likely benign; Uncertain significance	rs6442147, rs35017428, rs56083801, rs34363202, rs9809061, rs201875004	RCV005915622 RCV005922210 RCV005921260 RCV005929941 RCV005891386 RCV005901668
Uterine carcinosarcoma	Benign	rs35017428, rs3826	RCV005922209 RCV005897570
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs140083233, rs34363202, rs3826, rs549507714	RCV005918627 RCV005929943 RCV005897571 RCV005900115
Uveal melanoma	Benign	rs9809061	RCV005891384

Associations from Text Mining
Disease Name	Relationship Type	References
Aagenaes syndrome	Associate	29118324
Acromegaly	Associate	40415137
Adenocarcinoma of Lung	Associate	35236309, 35509981, 38104669
Adenomatous Polyposis Coli	Associate	39519399
Adrenocortical Carcinoma	Associate	35500219
Alternating hemiplegia of childhood	Associate	31633027
Anemia Hemolytic	Associate	17308347, 17384638, 19609304, 20456353, 21389083, 23318456, 25071006, 27208205, 27405460, 32269332, 32409752, 36385258, 36894310, 8896563
ATR X syndrome	Associate	31628488
Biliary Tract Neoplasms	Associate	25736055
Breast Diseases	Associate	23440494
Breast Neoplasms	Associate	17333336, 19671671, 21766209, 22952942, 23063585, 23897704, 28386063, 29605812, 30799775
Carcinogenesis	Associate	18475298, 19428384, 23965832, 23993743, 28157704, 32420600, 38104669, 40237267
Carcinogenesis	Inhibit	25176410
Carcinoma Hepatocellular	Associate	20509860, 37599085, 40237267, 40287803
Carcinoma Hepatocellular	Stimulate	37821996
Carcinoma Non Small Cell Lung	Associate	25742788
Carcinoma Renal Cell	Associate	32688345, 36081434
Carcinoma Squamous Cell	Associate	26819410, 29118324, 33883185
Chromosomal Instability	Associate	18475298, 38104669
Chromosome Aberrations	Associate	26083937
Chromosome Breakage	Associate	14673148
Chromosome Disorders	Associate	36543851
Chromosome Fragility	Associate	29394375
Colorectal Neoplasms	Associate	15886296, 25669972
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	36011265
Death	Associate	23897704, 30822218
Death	Stimulate	40237267
Digestive System Neoplasms	Stimulate	40237267
Disease	Associate	12086603
DNA Repair Deficiency Disorders	Associate	37777152
DNA Virus Infections	Associate	16893675, 34748904
Drug Related Side Effects and Adverse Reactions	Associate	21766209, 27399778
Endometrial Neoplasms	Associate	29955143, 38218826
Esophageal Neoplasms	Associate	21279724
Esophageal Squamous Cell Carcinoma	Associate	21279724
Fanconi Anemia	Associate	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
Fanconi Anemia	Stimulate	16720839, 18174376, 23993743, 29059323, 38104669
Fanconi Anemia Complementation Group J	Associate	25070891
Focal Epithelial Hyperplasia	Associate	19015634
Fragile Site 16p12	Associate	31180492, 37777152
Gallbladder Neoplasms	Associate	33328484
Genetic Diseases Inborn	Associate	27399778, 29659569
Genomic Instability	Associate	18263878
Glioblastoma	Associate	35962621
Glioma	Associate	25071006, 32484805
Hematologic Diseases	Associate	32106311
Hepatitis B	Associate	37821996
Hereditary Breast and Ovarian Cancer Syndrome	Associate	17333336
Hypogonadism	Associate	33270637
Hypoxia	Inhibit	24688021
Hypoxia Brain	Associate	24688021
Infections	Stimulate	21421559
Leukemia	Associate	15886296
Leukemia Lymphocytic Chronic B Cell	Associate	35845961
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	21203397
Leukemia Myeloid Acute	Associate	15886296
Leukemia T Cell	Associate	17539775
Lung Neoplasms	Associate	26385482
Lymphoma Non Hodgkin	Associate	32484805
Melanoma Cutaneous Malignant	Associate	35232428
Mental Disorders	Associate	39365306
Mesothelioma	Associate	22905093
Microsatellite Instability	Associate	15886296, 34328261
Mitochondrial Diseases	Associate	33514811
Multiple Myeloma	Associate	19934314
Myelodysplastic Syndromes	Associate	15886296
Myocardial Infarction	Associate	38253721
Neoplasm Metastasis	Associate	23897704
Neoplasms	Associate	17387268, 18277096, 18483568, 21389083, 22253870, 23063585, 23897704, 23965832, 24221193, 25071006, 25402475, 26083937, 26848151, 27322732, 27399778, 27447864, 27986371, 28157704, 28687786, 29659569, 29955143, 30804107, 30942098, 31113828, 32167469, 32269332, 32409752, 32420600, 34301805, 35236309, 36061145, 36364114, 36543851, 36686473, 36814203, 37821996, 38104669, 38218826, 40237267
Neoplasms	Inhibit	17539775, 25557546
Neoplasms Squamous Cell	Associate	24708616, 32560902
Neurilemmoma	Associate	25071006
Neurotoxicity Syndromes	Associate	21766209
Osteosarcoma	Associate	36814203
Ovarian Diseases	Associate	23063585
Ovarian Neoplasms	Associate	23063585, 30822218, 32180586, 34861889, 39456660
Pancreatic Neoplasms	Associate	15277238
Papillomavirus Infections	Associate	28196964
Precancerous Conditions	Inhibit	18475298
Precancerous Conditions	Associate	33099537
Prostate cancer familial	Associate	29659569
Prostatic Neoplasms	Associate	29659569, 34897998
Rectal Neoplasms	Stimulate	36414988
Shwachman Diamond Syndrome	Associate	17539775
Squamous Cell Carcinoma of Head and Neck	Associate	28678401, 36768994
Squamous Intraepithelial Lesions	Stimulate	29995652
Stomach Neoplasms	Associate	36011265
Triple Negative Breast Neoplasms	Associate	34748904
Urinary Bladder Neoplasms	Associate	25316812, 27399778
Uterine Cervical Neoplasms	Associate	24708616, 29995652
Uveal melanoma	Inhibit	23318456