FANCA (FA complementation group A)

Gene

• Entrez ID: 2175
• Gene name: FA complementation group A
• Gene symbol: FANCA
• Synonyms (NCBI Gene): FA, FA-H, FA1, FAA, FACA, FAH, FANCH
• Chromosome: 16
• Chromosome location: 16q24.3
• 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
rs1800338	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs9282684	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs17233141	G>C	Pathogenic, benign-likely-benign, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs34885858	C>A,G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs121907930	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs139235751	C>G,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs140180549	C>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs141422170	G>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs142833057	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs147945881	C>G	Likely-pathogenic	Splice acceptor variant
rs148100796	C>A	Not-provided, pathogenic	Coding sequence variant, stop gained
rs148473140	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs149277003	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs149551759	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs149797103	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs183350210	T>A	Likely-pathogenic	Splice acceptor variant
rs368953287	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs372163487	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs372254398	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507552	CAAC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs539460201	T>A,G	Pathogenic	Intron variant, missense variant, stop gained, coding sequence variant
rs555449842	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs574034197	T>C,G	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs577636020	AG>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs587776570	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783028	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs745568821	G>C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs746518509	T>A,C	Likely-pathogenic	Splice acceptor variant
rs747851434	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs751076878	C>A,G,T	Likely-pathogenic	Splice acceptor variant
rs751266148	C>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs752160950	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs752864343	C>A,T	Pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs753063086	G>A,T	Likely-pathogenic, pathogenic	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs753211631	C>G,T	Likely-pathogenic	Splice donor variant
rs753728435	C>A,G,T	Likely-pathogenic	Splice acceptor variant
rs753980264	G>A,C	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs754104046	->GCTGCTG	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs755104393	C>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs755546887	G>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs755922289	C>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs756140957	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs756367276	->A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs757504102	ACGTAG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, inframe indel
rs758528624	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs759877008	C>A,T	Pathogenic, likely-pathogenic	Intron variant
rs759899153	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs761341952	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs761725308	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs762526878	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs763378933	AGAG>-,AG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs764122657	GT>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs765277254	C>A,G	Likely-pathogenic	Splice acceptor variant
rs766875860	A>C,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs766989857	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs769479800	A>G,T	Pathogenic, likely-pathogenic	Missense variant, initiator codon variant
rs769580546	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs769862233	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs772359099	GAGT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs772751654	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, initiator codon variant
rs772858764	T>A	Pathogenic	Coding sequence variant, stop gained
rs773159223	G>A	Pathogenic	Coding sequence variant, stop gained
rs773906241	T>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs774026652	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs775388912	C>A,G,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs777825824	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs778507965	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs779375100	->G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs780825099	T>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs786204204	T>G	Pathogenic	Intron variant
rs786204238	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs786204246	AAG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs794726660	GTTTT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs797045570	ACTTA>-	Likely-pathogenic	Splice donor variant, intron variant
rs864622187	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs864622188	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs868273545	TC>-,TCTC	Pathogenic, likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs878853660	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs878853663	AG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs879255255	T>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs891323617	C>A,T	Likely-pathogenic	Splice donor variant
rs927630499	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs937874201	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs947311062	T>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs976556567	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057516430	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057521855	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1060501876	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1060501878	T>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1060501879	C>A,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1060501880	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs1166286386	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1173704265	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1183559927	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1184639006	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1186669727	GT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1188581065	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1205909298	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1216426444	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1230207719	C>A,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1232171121	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1247378731	G>A,C,T	Pathogenic-likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1278836130	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1283284704	->TCAGGTTGAATTTCCAGCT	Pathogenic	Coding sequence variant, inframe indel, genic downstream transcript variant, stop gained
rs1285346388	CTAGAACAGCAAACACTGC>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, splice acceptor variant
rs1291524243	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs1302083447	T>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1313006784	G>A,C	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1336033143	GTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1338138752	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1343140664	->A	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1348367722	->GACT	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs1353992080	G>A	Pathogenic	Stop gained, coding sequence variant
rs1365019056	C>A	Likely-pathogenic	Intron variant, splice donor variant
rs1374769712	->A	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1380850249	CTT>-	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs1381684916	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1388128874	C>A,G	Likely-pathogenic	Splice acceptor variant
rs1438828232	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1439817346	G>A,C	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs1447363475	A>C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1448463647	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1452688134	A>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1458001028	A>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1464032361	C>A,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1477653630	C>A,G	Likely-pathogenic	Splice acceptor variant
rs1483028018	C>G,T	Likely-pathogenic	Splice donor variant
rs1484087361	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1485075318	C>A,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1490352414	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555535472	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535527	A>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536361	GGCC>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536446	CAC>-	Pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555537347	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555538571	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555538740	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555540048	AACT>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555540076	C>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555542860	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555545421	CTCTTTC>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555545517	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555545553	TG>-	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555545592	T>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555547474	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555547935	AGAAAGAC>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555547955	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555548428	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555548512	G>A	Pathogenic, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555548632	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555549451	C>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555549535	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555552006	->CGGGA	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555552506	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555554788	TG>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555556175	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555561294	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555564436	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555564451	GGCTGTG>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555571116	A>G	Not-provided, likely-pathogenic	Splice donor variant
rs1555573118	A>G	Likely-pathogenic	Splice donor variant
rs1555574913	->C	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555575253	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555580427	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555581729	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, initiator codon variant
rs1567601557	C>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1567603987	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1567616135	->CC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567618264	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1567618907	CAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1567621042	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1567628967	TGAGGTCGGCCAGCCGTGTCTTGGCCAATGAGATGTAGTCTGTGAGGAGGGAGCGGTACTTGCCGGGAACCAGGGGTGGGTGGAGAATGTGCACCT>-	Pathogenic	Splice donor variant, genic downstream transcript variant, coding sequence variant, splice acceptor variant
rs1567635573	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1567642367	C>T	Pathogenic	Splice acceptor variant
rs1598067532	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1598116164	C>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1598120768	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1598127082	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1598129626	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1598184500	C>T	Pathogenic	Coding sequence variant, stop gained
rs1598190568	A>C	Likely-pathogenic	Splice donor variant
rs1598191053	GC>AA	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016287	hsa-miR-193b-3p	Microarray	20304954
MIRT050966	hsa-miR-17-5p	CLASH	23622248
MIRT437350	hsa-miR-503-5p	LacZ reporter assay, qRT-PCR	24486548
MIRT683369	hsa-miR-4438	HITS-CLIP	23313552
MIRT683368	hsa-miR-3943	HITS-CLIP	23313552
MIRT683367	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT683366	hsa-miR-5095	HITS-CLIP	23313552
MIRT683365	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT514459	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT661261	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT661260	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT661259	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT661258	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT661257	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT661256	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT661255	hsa-miR-4268	HITS-CLIP	23824327
MIRT661254	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT661253	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT640267	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT640266	hsa-miR-5587-3p	HITS-CLIP	23824327
MIRT640265	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT640264	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT525317	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT525316	hsa-miR-6895-5p	PAR-CLIP	20371350
MIRT525313	hsa-miR-3937	PAR-CLIP	20371350
MIRT525310	hsa-miR-4786-3p	PAR-CLIP	20371350
MIRT525307	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT570782	hsa-miR-4640-5p	PAR-CLIP	20371350
MIRT570781	hsa-miR-4726-5p	PAR-CLIP	20371350
MIRT525306	hsa-miR-7843-3p	PAR-CLIP	20371350
MIRT525304	hsa-miR-1227-5p	PAR-CLIP	20371350
MIRT525317	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT525316	hsa-miR-6895-5p	PAR-CLIP	22012620
MIRT525315	hsa-miR-3622a-3p	PAR-CLIP	22012620
MIRT525314	hsa-miR-3622b-3p	PAR-CLIP	22012620
MIRT525313	hsa-miR-3937	PAR-CLIP	22012620
MIRT525312	hsa-miR-1224-3p	PAR-CLIP	22012620
MIRT525311	hsa-miR-544b	PAR-CLIP	22012620
MIRT525310	hsa-miR-4786-3p	PAR-CLIP	22012620
MIRT525309	hsa-miR-5004-5p	PAR-CLIP	22012620
MIRT525308	hsa-miR-4751	PAR-CLIP	22012620
MIRT525307	hsa-miR-4755-3p	PAR-CLIP	22012620
MIRT525306	hsa-miR-7843-3p	PAR-CLIP	22012620
MIRT525305	hsa-miR-1224-5p	PAR-CLIP	22012620
MIRT525304	hsa-miR-1227-5p	PAR-CLIP	22012620
MIRT514477	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT514476	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT514475	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT514474	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT514473	hsa-miR-302e	PAR-CLIP	23446348
MIRT514472	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT514471	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT514470	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT514469	hsa-miR-520b	PAR-CLIP	23446348
MIRT514468	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT514467	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT514466	hsa-miR-520e	PAR-CLIP	23446348
MIRT514465	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT514464	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT514463	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT514462	hsa-miR-6786-3p	PAR-CLIP	23446348
MIRT514460	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT514461	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT514459	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514458	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT683369	hsa-miR-4438	HITS-CLIP	23313552
MIRT683368	hsa-miR-3943	HITS-CLIP	23313552
MIRT683367	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT683366	hsa-miR-5095	HITS-CLIP	23313552
MIRT683365	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT514459	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT661261	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT661260	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT661259	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT661258	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT661257	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT661256	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT661255	hsa-miR-4268	HITS-CLIP	23824327
MIRT661254	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT661253	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT640267	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT640266	hsa-miR-5587-3p	HITS-CLIP	23824327
MIRT640265	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT640264	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT615010	hsa-miR-4497	HITS-CLIP	23824327
MIRT615009	hsa-miR-1180-3p	HITS-CLIP	23824327
MIRT615008	hsa-miR-4664-3p	HITS-CLIP	23824327
MIRT525317	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT525316	hsa-miR-6895-5p	PAR-CLIP	20371350
MIRT525313	hsa-miR-3937	PAR-CLIP	20371350
MIRT525310	hsa-miR-4786-3p	PAR-CLIP	20371350
MIRT525307	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT570782	hsa-miR-4640-5p	PAR-CLIP	20371350
MIRT570781	hsa-miR-4726-5p	PAR-CLIP	20371350
MIRT525306	hsa-miR-7843-3p	PAR-CLIP	20371350
MIRT525304	hsa-miR-1227-5p	PAR-CLIP	20371350
MIRT525317	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT525316	hsa-miR-6895-5p	PAR-CLIP	22012620
MIRT525315	hsa-miR-3622a-3p	PAR-CLIP	22012620
MIRT525314	hsa-miR-3622b-3p	PAR-CLIP	22012620
MIRT525313	hsa-miR-3937	PAR-CLIP	22012620
MIRT525312	hsa-miR-1224-3p	PAR-CLIP	22012620
MIRT525311	hsa-miR-544b	PAR-CLIP	22012620
MIRT525310	hsa-miR-4786-3p	PAR-CLIP	22012620
MIRT525309	hsa-miR-5004-5p	PAR-CLIP	22012620
MIRT525308	hsa-miR-4751	PAR-CLIP	22012620
MIRT525307	hsa-miR-4755-3p	PAR-CLIP	22012620
MIRT525306	hsa-miR-7843-3p	PAR-CLIP	22012620
MIRT525305	hsa-miR-1224-5p	PAR-CLIP	22012620
MIRT525304	hsa-miR-1227-5p	PAR-CLIP	22012620
MIRT514477	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT514476	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT514475	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT514474	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT514473	hsa-miR-302e	PAR-CLIP	23446348
MIRT514472	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT514471	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT514470	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT514469	hsa-miR-520b	PAR-CLIP	23446348
MIRT514468	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT514467	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT514466	hsa-miR-520e	PAR-CLIP	23446348
MIRT514465	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT514464	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT514463	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT514462	hsa-miR-6786-3p	PAR-CLIP	23446348
MIRT514460	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT514461	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT514459	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514458	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT988933	hsa-miR-1273e	CLIP-seq
MIRT988934	hsa-miR-130a	CLIP-seq
MIRT988935	hsa-miR-130b	CLIP-seq
MIRT988936	hsa-miR-151-5p	CLIP-seq
MIRT988937	hsa-miR-151b	CLIP-seq
MIRT988938	hsa-miR-2054	CLIP-seq
MIRT988939	hsa-miR-217	CLIP-seq
MIRT988940	hsa-miR-2355-5p	CLIP-seq
MIRT988941	hsa-miR-296-5p	CLIP-seq
MIRT988942	hsa-miR-301a	CLIP-seq
MIRT988943	hsa-miR-301b	CLIP-seq
MIRT988944	hsa-miR-3131	CLIP-seq
MIRT988945	hsa-miR-3150b-3p	CLIP-seq
MIRT988946	hsa-miR-3156-5p	CLIP-seq
MIRT988947	hsa-miR-335	CLIP-seq
MIRT988948	hsa-miR-3591-5p	CLIP-seq
MIRT988949	hsa-miR-3620	CLIP-seq
MIRT988950	hsa-miR-3666	CLIP-seq
MIRT988951	hsa-miR-3679-3p	CLIP-seq
MIRT988952	hsa-miR-4274	CLIP-seq
MIRT988953	hsa-miR-4286	CLIP-seq
MIRT988954	hsa-miR-4295	CLIP-seq
MIRT988955	hsa-miR-4301	CLIP-seq
MIRT988956	hsa-miR-4422	CLIP-seq
MIRT988957	hsa-miR-4436b-5p	CLIP-seq
MIRT988958	hsa-miR-4473	CLIP-seq
MIRT988959	hsa-miR-454	CLIP-seq
MIRT988960	hsa-miR-4671-3p	CLIP-seq
MIRT988961	hsa-miR-4716-5p	CLIP-seq
MIRT988962	hsa-miR-4747-3p	CLIP-seq
MIRT988963	hsa-miR-4784	CLIP-seq
MIRT988964	hsa-miR-611	CLIP-seq
MIRT988965	hsa-miR-635	CLIP-seq
MIRT1993027	hsa-miR-1185	CLIP-seq
MIRT1993028	hsa-miR-1249	CLIP-seq
MIRT1993029	hsa-miR-1254	CLIP-seq
MIRT1993030	hsa-miR-1255a	CLIP-seq
MIRT1993031	hsa-miR-1255b	CLIP-seq
MIRT1993032	hsa-miR-1297	CLIP-seq
MIRT988938	hsa-miR-2054	CLIP-seq
MIRT1993033	hsa-miR-26a	CLIP-seq
MIRT1993034	hsa-miR-26b	CLIP-seq
MIRT1993035	hsa-miR-3116	CLIP-seq
MIRT1993036	hsa-miR-3605-5p	CLIP-seq
MIRT1993037	hsa-miR-3663-3p	CLIP-seq
MIRT1993038	hsa-miR-3679-5p	CLIP-seq
MIRT1993039	hsa-miR-3690	CLIP-seq
MIRT1993040	hsa-miR-4465	CLIP-seq
MIRT1993041	hsa-miR-4707-3p	CLIP-seq
MIRT1993042	hsa-miR-562	CLIP-seq
MIRT988934	hsa-miR-130a	CLIP-seq
MIRT988935	hsa-miR-130b	CLIP-seq
MIRT988938	hsa-miR-2054	CLIP-seq
MIRT988942	hsa-miR-301a	CLIP-seq
MIRT988943	hsa-miR-301b	CLIP-seq
MIRT988947	hsa-miR-335	CLIP-seq
MIRT988948	hsa-miR-3591-5p	CLIP-seq
MIRT988950	hsa-miR-3666	CLIP-seq
MIRT988954	hsa-miR-4295	CLIP-seq
MIRT988957	hsa-miR-4436b-5p	CLIP-seq
MIRT988958	hsa-miR-4473	CLIP-seq
MIRT988959	hsa-miR-454	CLIP-seq
MIRT988960	hsa-miR-4671-3p	CLIP-seq
MIRT988961	hsa-miR-4716-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	18438432

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0005515	Function	Protein binding	IPI	10627486, 10652215, 11063725, 11726552, 12571280, 12649160, 16189514, 17289582, 17396147, 17474147, 22266823, 22343915, 22705371, 28514442, 31467278, 32814053, 33961781, 35271311, 37398436
GO:0005634	Component	Nucleus	IDA	11726552
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9398857
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9398857
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS
GO:0006974	Process	DNA damage response	IEA
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0008585	Process	Female gonad development	IEA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 22266823, 22343915, 22705371
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:0045589	Process	Regulation of regulatory T cell differentiation	IBA
GO:0045589	Process	Regulation of regulatory T cell differentiation	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0065003	Process	Protein-containing complex assembly	TAS	9398857
GO:1905936	Process	Regulation of germ cell proliferation	IEA
GO:2000348	Process	Regulation of CD40 signaling pathway	IEA

Other IDs

• MIM: 607139
• HGNC: 3582
• e!Ensembl: ENSG00000187741

Protein

• UniProt ID: O15360
• Protein name: Fanconi anemia group A protein (Protein FACA)
• Protein function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.
• PDB: 7KZP, 7KZQ, 7KZR, 7KZS, 7KZT, 7KZV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15865	Fanconi_A_N	170 → 524	Fanconi anaemia group A protein N terminus	Family
  PF03511	Fanconi_A	1254 → 1316	Fanconi anaemia group A protein	Family

• Sequence:

  MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNAL
  LLEVEGPLCKKLSLSKVIDCDSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASS
  VGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQSSLLLE
  AVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQMEASCQHADVARAMLSDFVQ
  MFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFG
  VFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVLKASDAVQMQREWSFARTHPLLTSLYR
  RLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCFPEAQQLLEDWVARLMAQAFE
  SCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGSTRGYHGCSKKALVFLFTFLSEL
  VPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTRLADLKVSIENMGLYEDLSSAGDI
  TEPHSQALQDVEKAIMVFEHTGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSR
  VAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVRAEPNSAEEPLGQLTAALGEL
  RASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVD
  LLLTSFCQNLMAASSVAPPERQGPWAALFVRTMCGRVLPAVLTRLCQLLRHQGPSLSAPH
  VLGLAALAVHLGESRSALPEVDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAA
  ISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEARQPLSEEDVASLSWRPLHLPS
  ADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIH
  EHFLPESSASGGCDGDLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISR
  LQEMVADLELQQDLIVPLGHTPSQEHFLFEIFRRRLQALTSGWSVAASLQRQRELLMYKR
  ILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFCSHGGALTQDITAHFFRGLLN
  ACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKL
  QEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFL
  FFFSLMGLLSSHLTSNSTTDLPKAFHVCAAILECLEKRKISWLALFQLTESDLRLGRLLL
  RVAPDQHTRLLPFAFYSLLSYFHEDAAIREEAFLHVAVDMYLKLVQLFVAGDTSTVSPPA
  GRSLELKGQGNPVELITKARLFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQ
  QAAPDADLSQEPHLF

• Sequence length: 1455

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

Fanconi Anemia Pathway

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
Abnormality of blood and blood-forming tissues	Likely pathogenic; Pathogenic	rs2039260545, rs2143529990	RCV001814541 RCV001814564	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs751266148	RCV005901464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FANCA-related disorder	Likely pathogenic; Pathogenic	rs1183256870, rs1403231932, rs1336834251, rs148100796, rs775388912, rs397507552, rs747851434, rs2544126105, rs2544156632, rs1437697372, rs1432988639, rs751266148, rs761341952, rs753063086, rs372254398, rs1291524243, rs752457319, rs1186669727, rs779745863, rs2039844134, rs1429943036, rs374030577	RCV004743442 RCV003941129 RCV003401739 RCV003925189 RCV003395342 RCV004742211 RCV003398432 RCV004744458 RCV003399980 RCV003902177 RCV003935400 RCV003420183 RCV004742561 RCV003892520 RCV004742565 RCV004742563 RCV003892569 RCV003396401 RCV003393883 RCV004726975 RCV003405458 RCV004727049	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Likely pathogenic; Pathogenic	rs891323617, rs2062046121, rs2040074214, rs1183256870, rs2143140176, rs2143261385, rs2143351760, rs2143433058, rs1316078638, rs2143656696, rs1343463467, rs761988162, rs2151714603, rs1567598488, rs2143137762, rs2143138138, rs776391208, rs373545111, rs2143139061, rs2143139284, rs2143260759, rs1487360770, rs2143331597, rs947786901, rs2143336354, rs2143336461, rs2143336491, rs2143351188, rs2143366415, rs1211579979, rs769718381, rs2143534611, rs2143585362, rs2143615250, rs868620166, rs1260966020, rs2143732272, rs2143393148, rs2039260545, rs747823528, rs1199670660, rs2143424348, rs2143336220, rs2143333169, rs2143393518, rs781436006, rs1384166265, rs1225564406, rs764030196, rs1464032361, rs1403231932, rs746236214, rs1336834251, rs2143139166, rs984285795, rs2040847223, rs2143529729, rs1598190568, rs2143710613, rs2143288542, rs2143366568, rs747994845, rs1230207719, rs2143062233, rs2143351554, rs2143138748, rs776471397, rs1417768931, rs148100796, rs587778319, rs2143308216, rs1598120768, rs2143678941, rs2143106522, rs2143632171, rs2143711687, rs1280130060, rs774448881, rs2151712879, rs1189106357, rs2143525701, rs1438990537, rs773687142, rs2143106211, rs1567592815, rs2151714666, rs762342197, rs2143459144, rs775388912, rs1192724266, rs1406289451, rs2143138814, rs1232171121, rs2151714613, rs2143724113, rs2062169243, rs2041098068, rs2143525603, rs2143128062, rs1394491958, rs2143422286, rs1450151864, rs2151710810, rs752800577, rs2143422990, rs2143677013, rs2151710687, rs2040110878, rs2143060935, rs2143615845, rs2143128346, rs2143163267, rs2143163813, rs769047348, rs878853666, rs2151714692, rs2143525756, rs2143088468, rs1060501879, rs587783028, rs2143139861, rs2143680554, rs2143367693, rs2040072957, rs2544362800, rs985886242, rs2544273183, rs397507552, rs778507965, rs747851434, rs794726660, rs786204246, rs756367276, rs786204204, rs786204238, rs183350210, rs1316950815, rs756023006, rs1424006580, rs2143340252, rs2544395419, rs2143107119, rs752160950, rs2544095233, rs2040093330, rs764620351, rs766875357, rs2041101017, rs2544095216, rs2544113674, rs746176365, rs1282690126, rs1286812517, rs140823801, rs1206078224, rs2544382541, rs2544202887, rs2544088087, rs2143288626, rs2544213873, rs2143106071, rs2544129902, rs746514288, rs2544079230, rs772359099, rs762902309, rs2040352832, rs2544227312, rs2544243642, rs2544138067, rs2544348065, rs2544270836, rs2544213697, rs2544362522, rs2544390572, rs1388128874, rs2544126105, rs2544288758, rs2143109078, rs748856769, rs745665658, rs34413183, rs746997654, rs758341181, rs780825099, rs2542419680, rs2544187101, rs2544079280, rs2062047006, rs2544094927, rs769862233, rs2544275708, rs1274321707, rs529199293, rs376089640, rs747892390, rs149277003, rs864622188, rs864622187, rs2544243740, rs2544178473, rs2039158032, rs574034197, rs878853663, rs878853660, rs759877008, rs2544156632, rs2544382014, rs2544390320, rs2544270683, rs2040091881, rs2544365253, rs747645948, rs1018067067, rs2544305562, rs2544288250, rs2544364915, rs2544119852, rs1486237562, rs2544348010, rs2544243485, rs774146374, rs2544105888, rs2544322000, rs2544088436, rs2544382059, rs2544126036, rs2544197198, rs2544120709, rs2544129886, rs2544075812, rs1598116164, rs2544288124, rs1337692923, rs2544395061, rs2544288604, rs2544305641, rs2143477277, rs2143529644, rs2544156945, rs2544082178, rs2544094857, rs2143424712, rs2143138507, rs2143724329, rs753728435, rs2544130253, rs2040602804, rs2544156690, rs2544073417, rs2544207520, rs2544126063, rs1483121850, rs2544080144, rs2040372065, rs1015551647, rs2039289668, rs2544195729, rs2544390528, rs1555552506, rs749550737, rs750257902, rs2544167947, rs1188082371, rs752839367, rs2544364902, rs2544120655, rs2544156915, rs2544095343, rs2544243344, rs2143061441, rs2544113550, rs2544276097, rs751266148, rs2544207530, rs868273545, rs372163487, rs1057516430, rs773159223, rs1057521855, rs1060501878, rs755546887, rs1060501880, rs1060501876, rs555449842, rs753211631, rs182657062, rs1188581065, rs1555547474, rs149551759, rs772751654, rs773906241, rs756140957, rs777825824, rs1447363475, rs1432988639, rs1555536446, rs1555538740, rs1343140664, rs759899153, rs764122657, rs1338138752, rs539460201, rs1380850249, rs1555536390, rs1166286386, rs755922289, rs915983602, rs745882980, rs776969626, rs1555533693, rs940187828, rs753700179, rs771775516, rs986710868, rs1555534521, rs1555545421, rs1302083447, rs1555545517, rs1555540076, rs1555547955, rs1555549451, rs1555552006, rs927630499, rs757504102, rs1285346388, rs947311062, rs1247378731, rs1205909298, rs937874201, rs1555548512, rs1555571116, rs147945881, rs753980264, rs758528624, rs1555561294, rs1365019056, rs751076878, rs761341952, rs1348367722, rs749688050, rs1184639006, rs1477653630, rs769479800, rs1555532944, rs1555535527, rs1555537347, rs1278836130, rs745568821, rs1283284704, rs1458001028, rs1555545592, rs763378933, rs976556567, rs746518509, rs772858764, rs1484087361, rs753063086, rs372254398, rs1173704265, rs1555547935, rs1448463647, rs1555549535, rs755104393, rs1438828232, rs148473140, rs769580546, rs1555564436, rs1291524243, rs1555573118, rs1555575253, rs765277254, rs1555580427, rs752457319, rs1567601557, rs1567616135, rs1374769712, rs1390620949, rs1313006784, rs1567628967, rs140180549, rs1598048941, rs1598067532, rs1186669727, rs761725308, rs1598127082, rs1598129626, rs752864343, rs1353992080, rs1598184500, rs1598191053, rs1452688134, rs766989857, rs766875860, rs149851163, rs1336033143, rs1281446470, rs748453841, rs2062172394, rs1035003476, rs766643461, rs779480428, rs2039078843, rs2039156731, rs1432415523, rs2040073991, rs2040090741, rs755018069, rs2040599267, rs2040853528, rs1411237340, rs2041026878, rs941660593, rs2041101553, rs34885858, rs1567642367, rs1220672299, rs2038478071, rs2040523640, rs2039603867, rs1483028018, rs1363946483, rs1158456786, rs770393751, rs2039604081, rs2040090995, rs2040092520, rs2039076227, rs779745863, rs2040846500, rs2062172440, rs2039844134, rs781216924, rs758917273, rs2039846326, rs2041095238, rs1311396994, rs1304878514, rs761469030, rs776827467, rs2040094761, rs2038409874, rs777971510, rs2040352874, rs2062027006, rs199599393, rs2062067746, rs2062087795, rs1228394297, rs2062089336, rs1219402916, rs2062172051, rs2062172458, rs2062210802, rs1185165443, rs2038399117, rs545772434, rs2038407878, rs2038409656, rs2038474528, rs1429943036, rs1270910813, rs1354272260, rs2039077331, rs2039275264, rs751572448, rs2039278551, rs17232973, rs1555548632, rs2039386741, rs2039605605, rs775154397, rs2039844441, rs765684774, rs2040853392, rs1183559927, rs2041094594, rs2041096125, rs2062043035, rs773113065, rs2039844868, rs1416639878, rs2040092247, rs2041026343, rs2041137887, rs748624754, rs2038398856, rs772477788, rs1266348463, rs2041102320, rs911481295	RCV001376795 RCV001349630 RCV001376747 RCV001377928 RCV001377023 RCV001376768 RCV001379771 RCV001377504 RCV001378190 RCV001379921 RCV001379431 RCV001380733 RCV001383918 RCV001387687 RCV001389759 RCV001387087 RCV001389972 RCV001388012 RCV001382609 RCV001389941 RCV001383442 RCV001382301 RCV001387266 RCV001383871 RCV001388076 RCV001387976 RCV001390317 RCV001380480 RCV001382784 RCV001385308 RCV001383443 RCV001390354 RCV001385941 RCV001388440 RCV001381966 RCV001380592 RCV001383452 RCV002568228 RCV002570638 RCV003523097 RCV001615348 RCV001615357 RCV001615366 RCV001615367 RCV002544206 RCV002034561 RCV002544245 RCV003829174 RCV002541143 RCV002544246 RCV001868846 RCV001806722 RCV003635979 RCV001869794 RCV001844451 RCV001844452 RCV001894696 RCV001974185 RCV002009595 RCV001957284 RCV001928441 RCV001945161 RCV002032199 RCV001939405 RCV001941703 RCV001930544 RCV001875644 RCV001889270 RCV000474583 RCV001386991 RCV001950861 RCV002012997 RCV002012876 RCV001952376 RCV001953882 RCV002013340 RCV001943582 RCV001975171 RCV001910557 RCV001901150 RCV002004592 RCV002028818 RCV001919985 RCV001972224 RCV001865166 RCV001993272 RCV002000221 RCV001993157 RCV002019041 RCV001999997 RCV002037771 RCV002037804 RCV001906162 RCV001993361 RCV001945824 RCV001939484 RCV001939493 RCV001939553 RCV001880678 RCV001946961 RCV001972472 RCV001953458 RCV001951051 RCV001970064 RCV002025307 RCV002025367 RCV001898811 RCV002000789 RCV002019381 RCV001951428 RCV001940793 RCV001958747 RCV002042193 RCV001906832 RCV001944168 RCV001921935 RCV001946179 RCV001918541 RCV002027339 RCV001980940 RCV003522940 RCV002255860 RCV002258493 RCV002271829 RCV002282807 RCV003635984 RCV003097710 RCV005096135 RCV000463426 RCV001046987 RCV000630905 RCV001851619 RCV000168439 RCV000168438 RCV000168293 RCV000168396 RCV003064370 RCV003051329 RCV003051001 RCV003066892 RCV003087650 RCV003079207 RCV003072414 RCV000630944 RCV002611407 RCV002615091 RCV002628881 RCV002647205 RCV002663942 RCV003108462 RCV003118014 RCV002575909 RCV002575617 RCV002583539 RCV002584081 RCV002635377 RCV002659024 RCV002695848 RCV002755902 RCV002736642 RCV002730606 RCV002736130 RCV002760340 RCV002745908 RCV002740878 RCV002805380 RCV002810495 RCV000804476 RCV001043860 RCV002801814 RCV002834105 RCV002838402 RCV002867020 RCV002857202 RCV002871728 RCV002894095 RCV002872067 RCV002881341 RCV002865974 RCV002847393 RCV002881922 RCV002886037 RCV002895821 RCV002890069 RCV002903261 RCV002932892 RCV002966933 RCV002975486 RCV000199923 RCV003018242 RCV003033612 RCV002996815 RCV003012207 RCV003017434 RCV003034715 RCV003034449 RCV003043416 RCV003047487 RCV003057189 RCV003048691 RCV000204633 RCV000206698 RCV000205897 RCV000204795 RCV003635998 RCV003123367 RCV003155659 RCV000230300 RCV000231136 RCV000228729 RCV000233245 RCV003765581 RCV003523170 RCV003523182 RCV005100157 RCV003636021 RCV005100158 RCV003779025 RCV005616642 RCV003523183 RCV003523359 RCV003523948 RCV003523271 RCV003523360 RCV003522219 RCV003522549 RCV003525286 RCV003525343 RCV003523766 RCV003523634 RCV003523795 RCV003523669 RCV003523732 RCV003524419 RCV003524645 RCV003524765 RCV003524842 RCV003522702 RCV003522870 RCV003522882 RCV003522680 RCV003522754 RCV003522797 RCV003636112 RCV003636101 RCV003636247 RCV003637136 RCV003637132 RCV003637031 RCV003637148 RCV003637336 RCV003637338 RCV003637302 RCV003637304 RCV003637375 RCV003637641 RCV003637732 RCV003637736 RCV003637784 RCV003638016 RCV003638040 RCV003635462 RCV003635501 RCV003635432 RCV003635530 RCV003635531 RCV003635710 RCV003635753 RCV003635812 RCV003636492 RCV003636747 RCV003637569 RCV003822260 RCV003832664 RCV003837647 RCV003829590 RCV003839810 RCV003858534 RCV003842994 RCV003846852 RCV003859725 RCV003861759 RCV003878196 RCV003876477 RCV004018184 RCV004018234 RCV005090646 RCV001223227 RCV001865263 RCV001245476 RCV004701475 RCV000475930 RCV000466964 RCV000464366 RCV000465485 RCV000470001 RCV000471236 RCV000474895 RCV001223396 RCV001219227 RCV001851411 RCV001380594 RCV001857096 RCV001383377 RCV000701341 RCV000685268 RCV000536967 RCV000527193 RCV000546890 RCV000540300 RCV000543183 RCV000555905 RCV000529668 RCV000556612 RCV000525327 RCV001231124 RCV000630899 RCV000630873 RCV000630824 RCV000630961 RCV001855345 RCV000801328 RCV001218261 RCV001383939 RCV001229363 RCV001222479 RCV003767972 RCV002532156 RCV001855583 RCV001071414 RCV001246767 RCV001855502 RCV000796523 RCV001382564 RCV000688900 RCV001855546 RCV001383586 RCV001245500 RCV002530721 RCV001861781 RCV003768006 RCV001384022 RCV001240902 RCV001384720 RCV001058321 RCV001861792 RCV000822096 RCV001868239 RCV001242661 RCV001069523 RCV001584542 RCV002532125 RCV003523013 RCV001378203 RCV001868249 RCV005091943 RCV000812393 RCV003523011 RCV001204945 RCV002530683 RCV001379949 RCV001377209 RCV000699054 RCV005240441 RCV001387726 RCV001855596 RCV002531365 RCV001855559 RCV002531235 RCV001382479 RCV005091964 RCV000817200 RCV001065334 RCV001235351 RCV002531281 RCV000798970 RCV002255501 RCV001379453 RCV000806911 RCV001211107 RCV001387348 RCV001861771 RCV000809264 RCV000803258 RCV001047569 RCV001210504 RCV001055356 RCV001868230 RCV001054905 RCV001868216 RCV000805493 RCV000799363 RCV001203018 RCV000813603 RCV001861842 RCV001037066 RCV001855434 RCV001387347 RCV000706464 RCV000695127 RCV000693701 RCV000703200 RCV001868923 RCV001043409 RCV001386218 RCV000779593 RCV000811488 RCV000795080 RCV000823169 RCV000802326 RCV000813088 RCV000814027 RCV000823140 RCV000801557 RCV000803831 RCV000803115 RCV000798954 RCV000799851 RCV000809003 RCV000801912 RCV000811635 RCV000821969 RCV000798008 RCV001241985 RCV001858712 RCV001381596 RCV001064494 RCV001041985 RCV001045029 RCV001058235 RCV001066000 RCV001040068 RCV001067317 RCV001065034 RCV001071452 RCV001037568 RCV001070425 RCV001063647 RCV001044309 RCV001044967 RCV001066977 RCV001043714 RCV001057513 RCV001052431 RCV001071454 RCV001036272 RCV001057714 RCV001036122 RCV001071425 RCV001051366 RCV001052274 RCV001068973 RCV001053503 RCV003523063 RCV001873582 RCV001224011 RCV001223697 RCV001220629 RCV001222888 RCV001204408 RCV001205456 RCV001205784 RCV001202859 RCV001213212 RCV001215793 RCV001215768 RCV001222540 RCV001227821 RCV001235813 RCV001228384 RCV001234856 RCV001245228 RCV001246892 RCV001237762 RCV001232390 RCV001239097 RCV001241531 RCV001247635 RCV003635951 RCV001844280 RCV003523083 RCV003635954 RCV001390093 RCV001384450 RCV005094188 RCV003635950 RCV002568709 RCV001879790 RCV003523087 RCV002568708 RCV002570433 RCV001879789 RCV002570432 RCV005432634 RCV004587093 RCV001879795 RCV001879794 RCV002570437 RCV001377117 RCV001389973 RCV001879801 RCV002570438 RCV001389974 RCV002570436 RCV001879788 RCV001879787 RCV001879800 RCV003523088 RCV001879792 RCV002570435 RCV002570431 RCV003399023 RCV003485697 RCV003635949 RCV003523086 RCV001879798 RCV001879791 RCV003635948 RCV004769973 RCV001879797 RCV003635953 RCV003523089 RCV002568710 RCV003523084 RCV001806088 RCV001879786 RCV003523082 RCV001879785 RCV003635952 RCV001879796 RCV003635956 RCV005614507 RCV001880068 RCV001880078 RCV003635958	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group A	Likely pathogenic; Pathogenic	rs891323617, rs2143432038, rs2040074214, rs1183256870, rs2143140176, rs2143656696, rs1343463467, rs776391208, rs2143260759, rs1211579979, rs769718381, rs2143393148, rs2143657184, rs2143336220, rs2143393518, rs1598136954, rs781436006, rs2143711627, rs1384166265, rs764030196, rs1464032361, rs1403231932, rs2143138507, rs746236214, rs1336834251, rs2143139166, rs984285795, rs2143366568, rs2143351554, rs1417768931, rs148100796, rs587778319, rs2143106522, rs1280130060, rs774448881, rs2151712879, rs775388912, rs1232171121, rs2151714613, rs1450151864, rs2040110878, rs2143163267, rs769047348, rs587783028, rs2143677288, rs2143288874, rs769203048, rs2143367693, rs2040072957, rs1424006580, rs1402841866, rs1447363475, rs985886242, rs140412064, rs1012809189, rs2544213738, rs1164540064, rs2544207436, rs2544322402, rs2544273183, rs397507552, rs778507965, rs747851434, rs587776570, rs121907930, rs794726660, rs786204246, rs756367276, rs786204204, rs786204238, rs756023006, rs2143107119, rs752160950, rs2041101017, rs1282690126, rs879255255, rs2544202887, rs1598190568, rs772359099, rs762902309, rs797045570, rs758341181, rs780825099, rs2143615250, rs747892390, rs149277003, rs864622188, rs864622187, rs2544243740, rs2544094801, rs748624754, rs2544202460, rs2039158032, rs574034197, rs878853663, rs878853660, rs759877008, rs2544250338, rs2544156776, rs2544187460, rs2544138264, rs2544078574, rs760352719, rs2544088649, rs2040094761, rs2544126059, rs2544119774, rs2544088140, rs2544390432, rs2544270498, rs2544270776, rs1206013600, rs2544226349, rs2544186932, rs2544118926, rs2062169124, rs2143731999, rs2544095196, rs2544382014, rs2544105371, rs1461376582, rs2544389395, rs2039603867, rs2544119797, rs2544082856, rs1318931629, rs2544390320, rs2544389682, rs746997654, rs2143088468, rs2143677013, rs2544395103, rs2544078566, rs747928827, rs2544129734, rs1436768029, rs2544362718, rs2544138054, rs2544197474, rs2544270683, rs2040091881, rs2151710687, rs2040372065, rs2544270975, rs1555564436, rs2544195824, rs1598129626, rs2544395257, rs2544075874, rs2544390554, rs2544390610, rs2143711335, rs773906241, rs2544365253, rs747645948, rs1018067067, rs1286812517, rs2544130417, rs2544178563, rs2544178554, rs2040109989, rs2544120712, rs774146374, rs2143529644, rs2039289668, rs2544195729, rs2544276097, rs2544275712, rs2544178386, rs2544302863, rs2544196390, rs2544078399, rs149551759, rs2544197097, rs1403770430, rs2544303349, rs2544322133, rs2544348378, rs1555542860, rs769919783, rs1255001518, rs2544156828, rs2544119560, rs763626782, rs758641682, rs2544106209, rs2544331670, rs2544187093, rs2544178360, rs2544075505, rs2544362904, rs2544226343, rs868273545, rs372163487, rs1057516430, rs773159223, rs755546887, rs1060501879, rs1060501880, rs1060501876, rs555449842, rs182657062, rs1188581065, rs1555547474, rs1555548428, rs772751654, rs756140957, rs1432988639, rs1555536446, rs1343140664, rs759899153, rs764122657, rs539460201, rs1380850249, rs1555536390, rs1166286386, rs755922289, rs915983602, rs745882980, rs776969626, rs1555533693, rs940187828, rs753700179, rs771775516, rs986710868, rs1555534521, rs1555535472, rs34885858, rs751266148, rs1555536361, rs1555545421, rs1302083447, rs1381684916, rs1439817346, rs1555545517, rs1555540076, rs1555547955, rs1555549451, rs1555552006, rs927630499, rs757504102, rs1555552506, rs1285346388, rs947311062, rs1247378731, rs1205909298, rs937874201, rs1555548512, rs1555564451, rs754104046, rs762526878, rs1555571116, rs1555548632, rs1485075318, rs147945881, rs753980264, rs925457555, rs758528624, rs1555561294, rs1365019056, rs183350210, rs751076878, rs774026652, rs761341952, rs1555581729, rs1348367722, rs749688050, rs1184639006, rs1477653630, rs1555574913, rs769479800, rs1555532944, rs1555535527, rs1555537347, rs1555538571, rs1278836130, rs745568821, rs1283284704, rs1458001028, rs1555545592, rs763378933, rs779375100, rs1555554788, rs976556567, rs753728435, rs1388128874, rs746518509, rs772858764, rs1483028018, rs1484087361, rs1555532943, rs1555532946, rs1555534060, rs753063086, rs1555540048, rs372254398, rs1555545553, rs1173704265, rs1555547935, rs1448463647, rs1555549535, rs755104393, rs1555556175, rs1438828232, rs148473140, rs769580546, rs1291524243, rs1555573118, rs1555575253, rs765277254, rs1555580427, rs752457319, rs1374769712, rs1567593047, rs1390620949, rs1567618264, rs1567618907, rs769862233, rs1567621042, rs1405317971, rs140180549, rs1598048941, rs1598067532, rs761725308, rs752864343, rs1353992080, rs1452688134, rs1598120768, rs1230207719, rs766989857, rs1598116164, rs149851163, rs1183559927, rs1336033143, rs1281446470, rs748453841, rs2062172394, rs766643461, rs2039078843, rs2040073991, rs2040090741, rs755018069, rs2040599267, rs2041026878, rs1220672299, rs2040523640, rs1363946483, rs1158456786, rs2040090995, rs779745863, rs1188082371, rs2039844134, rs758917273, rs2041095238, rs1304878514, rs761469030, rs776827467, rs2038409874, rs777971510, rs2040352874, rs2062027006, rs765478990, rs749574677, rs2062047006, rs199599393, rs2062057035, rs1555533300, rs1456500627, rs2062057713, rs2062060149, rs2062066871, rs2062067746, rs2062067810, rs1268944859, rs2062069547, rs2062087795, rs1228394297, rs2062089336, rs2062090760, rs2062115605, rs1219402916, rs2062169220, rs375700263, rs2062172051, rs2062172440, rs2062172458, rs770622823, rs2062210802, rs2062211067, rs1185165443, rs2038398296, rs2038399117, rs545772434, rs2038407878, rs2038408351, rs2038409656, rs1343799019, rs2038474528, rs752837228, rs775799529, rs2038478110, rs2038511531, rs1429943036, rs1172710952, rs1270910813, rs2038522097, rs2038628210, rs2038844292, rs2038844790, rs2038968872, rs2038969261, rs2039074823, rs2039075542, rs1354272260, rs2039077331, rs1017086086, rs747823528, rs374030577, rs1216922486, rs2039254077, rs2039260502, rs1307805145, rs1036897594, rs2039267300, rs2039275264, rs2039275333, rs751572448, rs2039276663, rs2039278551, rs1239354393, rs2039278966, rs2039290343, rs2039330307, rs2039331837, rs1183781456, rs17232973, rs2039386741, rs2039605345, rs2039605605, rs2039642419, rs2039644862, rs775154397, rs2039773398, rs2039774778, rs2039775751, rs2039777078, rs2039844218, rs2039844441, rs2040076730, rs2040089994, rs2040094645, rs1045404649, rs2040110823, rs2040232900, rs2040234338, rs1174586234, rs2040352832, rs2040370883, rs2040520107, rs2040523467, rs753211631, rs1354884515, rs2040601073, rs2040602804, rs372691338, rs947111024, rs765684774, rs2040853392, rs2040855193, rs2040859131, rs2041094594, rs2041096125, rs2041138210, rs2041143697, rs2049528619, rs2062043035, rs2062054591, rs773113065, rs2062087915, rs2062089925, rs2062115822, rs1375036674, rs2038407808, rs2038517512, rs2038617702, rs2038967116, rs2038967521, rs2039077507, rs2039266434, rs2039334639, rs2039641869, rs2039643136, rs2039844868, rs2039845956, rs1416639878, rs2040090895, rs2040091643, rs2040092247, rs2040229450, rs2040231133, rs1369685302, rs2040369776, rs2040520715, rs2040843894, rs2040845588, rs2040847430, rs2040861554, rs2041024132, rs2041026343, rs2041095962, rs2041101804, rs2041137887, rs752126515, rs2062172011, rs2038398856, rs2038519770, rs2038618125, rs2038967261, rs2039260856, rs772477788, rs2039261844, rs1338018512, rs140785340, rs938278864, rs2039768709, rs1266348463, rs2039845162, rs2040091746, rs773687142, rs775697743, rs1454055874, rs1419169954, rs2040857662, rs147176389, rs2041102320, rs911481295	RCV001330798 RCV001726535 RCV001726536 RCV002499780 RCV005014511 RCV005014521 RCV001780295 RCV003469766 RCV005014529 RCV001780347 RCV003462991 RCV001536024 RCV001535993 RCV004571066 RCV003325232 RCV001775050 RCV001783242 RCV001783243 RCV001783244 RCV001783246 RCV001783247 RCV001783248 RCV001781080 RCV002503294 RCV004571115 RCV003470932 RCV003464156 RCV002490280 RCV004571719 RCV004571540 RCV000665641 RCV003460851 RCV004698561 RCV003464242 RCV004571749 RCV003471059 RCV003464346 RCV003464213 RCV003471123 RCV005635377 RCV003471230 RCV005014701 RCV003464258 RCV000144483 RCV002254005 RCV002254009 RCV002254010 RCV002307853 RCV003464430 RCV002283852 RCV002285083 RCV002286879 RCV003464436 RCV002306662 RCV002309621 RCV002308219 RCV002309318 RCV002309428 RCV002310075 RCV002310117 RCV000003609 RCV000003612 RCV000003613 RCV000003615 RCV000003616 RCV000003617 RCV001256290 RCV000239378 RCV001256326 RCV001256538 RCV003340603 RCV003465943 RCV003459740 RCV000173013 RCV004572846 RCV003465785 RCV000239379 RCV004571235 RCV005008725 RCV000190585 RCV000190642 RCV000192760 RCV004572480 RCV003465875 RCV000674142 RCV003459701 RCV000668440 RCV000665865 RCV001256338 RCV001256217 RCV002790014 RCV003145112 RCV003136913 RCV003152929 RCV005021829 RCV000665186 RCV001256599 RCV001782717 RCV001256557 RCV003232890 RCV003340692 RCV003338115 RCV003389376 RCV003444397 RCV003460136 RCV003460137 RCV003460138 RCV003460139 RCV003460140 RCV003468093 RCV003468094 RCV003468095 RCV003460141 RCV003460143 RCV003460144 RCV003460145 RCV003460146 RCV003460147 RCV003460148 RCV003468097 RCV003460150 RCV003460151 RCV003460153 RCV003468098 RCV003460154 RCV003468099 RCV003468100 RCV003460155 RCV003468101 RCV003460156 RCV003460157 RCV003460158 RCV003460159 RCV003460160 RCV003468102 RCV003468103 RCV003460161 RCV003460162 RCV003468104 RCV003468105 RCV003460163 RCV003468106 RCV003460164 RCV003468107 RCV003468108 RCV003468109 RCV003468110 RCV003468111 RCV003460166 RCV003460167 RCV003468112 RCV003468113 RCV003460168 RCV003460169 RCV003460170 RCV003460171 RCV003468114 RCV003460172 RCV003468115 RCV003460173 RCV003460174 RCV003460175 RCV003468116 RCV003460176 RCV004574110 RCV005014827 RCV004573246 RCV005254865 RCV005015068 RCV003991650 RCV004547230 RCV004557238 RCV004557282 RCV004576514 RCV004576515 RCV004576516 RCV004576517 RCV004576518 RCV004576519 RCV004576520 RCV004576521 RCV004576522 RCV004576523 RCV004576524 RCV004576525 RCV004576526 RCV004576528 RCV004576529 RCV004576530 RCV004576531 RCV004576532 RCV004576533 RCV004576534 RCV004576535 RCV004595168 RCV000411410 RCV000410151 RCV000409455 RCV000409456 RCV000669024 RCV001256354 RCV003243136 RCV001271597 RCV000667190 RCV000673202 RCV000666624 RCV000502863 RCV000499975 RCV000501439 RCV000499830 RCV000500370 RCV000667573 RCV003464113 RCV000673548 RCV001783028 RCV001276496 RCV002497048 RCV001256369 RCV000668910 RCV000578451 RCV000671321 RCV001256405 RCV001256513 RCV000666705 RCV000656368 RCV000670597 RCV000667783 RCV000671768 RCV000665549 RCV000672199 RCV000669249 RCV000674049 RCV000672788 RCV000671077 RCV000674061 RCV000668012 RCV000668641 RCV000674522 RCV000668571 RCV000671893 RCV000671105 RCV000673853 RCV000665563 RCV000669707 RCV000668546 RCV000670106 RCV000670729 RCV000671285 RCV000671503 RCV000667724 RCV000669747 RCV000673486 RCV000664679 RCV000673183 RCV000672395 RCV000670835 RCV000670390 RCV000667754 RCV000667063 RCV000672239 RCV000672786 RCV000670112 RCV000672065 RCV000669366 RCV000670450 RCV000674201 RCV000669501 RCV000669575 RCV000672477 RCV000674016 RCV000672654 RCV000670932 RCV000669616 RCV000674566 RCV000665314 RCV000671694 RCV000671112 RCV000670676 RCV000666393 RCV000666294 RCV000673358 RCV000674205 RCV000669920 RCV000672220 RCV000669511 RCV000673494 RCV000674926 RCV000671445 RCV000669694 RCV000673998 RCV000668167 RCV000674373 RCV000674491 RCV000667760 RCV000671287 RCV000671414 RCV000665703 RCV000671111 RCV000674034 RCV000673435 RCV000671987 RCV000673656 RCV000671161 RCV000671233 RCV000668648 RCV000672909 RCV000666866 RCV000668991 RCV000673192 RCV000670465 RCV000667180 RCV000670742 RCV000666441 RCV000671284 RCV000672696 RCV000671953 RCV000666675 RCV000674289 RCV000669408 RCV000665345 RCV000667155 RCV000667535 RCV000671453 RCV000674955 RCV000672458 RCV000668057 RCV000674412 RCV000674321 RCV000664959 RCV000665360 RCV001256303 RCV001274528 RCV000714899 RCV003465654 RCV000760152 RCV000761271 RCV000761273 RCV000761290 RCV000761289 RCV000779201 RCV000786986 RCV001256529 RCV005629576 RCV001256264 RCV003461133 RCV001256229 RCV001256218 RCV003467430 RCV001256438 RCV004569675 RCV003448350 RCV000853504 RCV000989668 RCV000989675 RCV000989676 RCV001256624 RCV003461457 RCV001256409 RCV001256277 RCV001256594 RCV005021347 RCV005021423 RCV001256568 RCV005055149 RCV004594242 RCV001256425 RCV001256418 RCV001256223 RCV005633871 RCV001255874 RCV001255877 RCV004570514 RCV001256252 RCV001256436 RCV003462732 RCV002497735 RCV001256288 RCV003462779 RCV001256410 RCV001780186 RCV003469445 RCV001780176 RCV002491805 RCV001256455 RCV001256528 RCV001256424 RCV001256420 RCV001256419 RCV001256416 RCV001256414 RCV001256309 RCV001256308 RCV001256307 RCV001256305 RCV001256301 RCV002250738 RCV001256302 RCV001256299 RCV001256629 RCV001256627 RCV001256625 RCV001256621 RCV001256526 RCV001256524 RCV001256523 RCV001256519 RCV001256518 RCV001256517 RCV001256516 RCV001256411 RCV001256408 RCV001256407 RCV001256406 RCV001256404 RCV001256298 RCV001256297 RCV001256295 RCV001256294 RCV001256293 RCV001256289 RCV001256286 RCV001256619 RCV001256617 RCV001256614 RCV001256613 RCV001256611 RCV001256608 RCV001256515 RCV001256514 RCV001256511 RCV001256508 RCV001256507 RCV001256506 RCV001256505 RCV001256396 RCV001256392 RCV001256391 RCV001256276 RCV001256275 RCV001256601 RCV001256602 RCV001256600 RCV001256598 RCV001256597 RCV001256596 RCV001256501 RCV001256494 RCV001256493 RCV001256387 RCV001256386 RCV001256381 RCV001256274 RCV001256272 RCV001256271 RCV001256268 RCV001256265 RCV001256266 RCV001256263 RCV001256262 RCV001256593 RCV001256592 RCV001256591 RCV001256588 RCV001256583 RCV001256491 RCV001256488 RCV001256487 RCV001256483 RCV001256482 RCV001256368 RCV001256260 RCV001256254 RCV001256581 RCV001256576 RCV001256575 RCV001256573 RCV001256572 RCV003462829 RCV001256468 RCV001256467 RCV001256466 RCV001256245 RCV001256244 RCV001256238 RCV001256569 RCV001256564 RCV001256558 RCV001256460 RCV001256457 RCV001256456 RCV001256351 RCV001256347 RCV001256340 RCV001256230 RCV001256224 RCV001256556 RCV001256555 RCV001256554 RCV001256545 RCV001256445 RCV001256442 RCV001256440 RCV001256339 RCV001256337 RCV001256336 RCV001256219 RCV001256212 RCV001256542 RCV001256540 RCV001256539 RCV001256534 RCV001256437 RCV001256530 RCV001256422 RCV001256415 RCV001256306 RCV001256626 RCV001256623 RCV001256620 RCV001256522 RCV001256412 RCV001256287 RCV001256512 RCV001256402 RCV001256604 RCV001256279 RCV001256595 RCV001256270 RCV001256490 RCV001256255 RCV001256253 RCV001256366 RCV001256365 RCV001256246 RCV001256243 RCV001256242 RCV001256240 RCV001256560 RCV001256559 RCV001256454 RCV001256349 RCV001256228 RCV001256330 RCV001256444 RCV001256439 RCV001256329 RCV001256220 RCV001256216 RCV001256541 RCV001256537 RCV001256532 RCV001256533 RCV001263705 RCV001263706 RCV001263707 RCV001263708 RCV001263709 RCV001263710 RCV001263791 RCV001263792 RCV001263793 RCV001263794 RCV001263795 RCV001263796 RCV001263797 RCV001263798 RCV001264168 RCV001264169 RCV001264170 RCV001264171 RCV001264172 RCV001264173 RCV001264174 RCV001264295 RCV001264296 RCV001523812 RCV001292921	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic	rs746514288	RCV005928498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic	rs747851434	RCV005394110	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs1555538571	RCV005909206	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs773159223	RCV006273708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Pathogenic	rs915983602	RCV000656370	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs1567601557	RCV001733870	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs771775516, rs1567642367	RCV005901468 RCV005912432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary stalk interruption syndrome	Pathogenic	rs2040090895	RCV001257299	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs2040520107	RCV005909205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT RENAL PELVIS NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pediatric high-grade glioma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12637330		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	12637330		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	28215707		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	28215707	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	11091222, 11167740, 15860134, 16445838, 27121516, 32866285, 35954197, 36894310, 8896563	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	11110674		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	30339652		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35366911	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19237606		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	24121791		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	11739169, 15860134, 16946016, 32054657, 37450374	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	30947698		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10098735, 12915460, 21236561, 23021409, 28440412		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	10098735, 23021409, 26201965, 28440412, 30947698, 33762291, 35293552	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
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	28315974		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34250406, 36181052	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	19012493		★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	26981779	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	33832503	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19237606		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35171259	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34512202	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15860134, 26424751		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21543111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	21543111		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ 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	6573531		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36356413	Associate	★☆☆☆☆ Found in Text Mining only
Compensatory Hyperinsulinemia	Compensatory Hyperinsulinemia	CTD_human_DG	22482891		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	15860134	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 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
Cutaneous Melanoma	Melanoma	BEFREE	25243787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	GWASCAT_DG	30429480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	31461451		★☆☆☆☆ Found in Text Mining only
Endogenous Hyperinsulinism	Endogenous Hyperinsulinism	CTD_human_DG	22482891		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36745477	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26424751		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	21279724, 33172906	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21279724, 33172906	Associate	★☆☆☆☆ Found in Text Mining only
Estren-Dameshek Variant of Fanconi Anemia	Anemia	CLINGEN_DG	10431244, 10915769, 11344308, 12913077, 29376519, 8896564		★☆☆☆☆ Found in Text Mining only
Estren-Dameshek Variant of Fanconi Pancytopenia	Estren-Dameshek Variant Of Fanconi Pancytopenia	CLINGEN_DG	10431244, 10915769, 11344308, 12913077, 29376519, 8896564		★☆☆☆☆ Found in Text Mining only
Exogenous Hyperinsulinism	Exogenous Hyperinsulinism	CTD_human_DG	22482891		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10090479, 10094191, 10098735, 10205272, 10210316, 10232749, 10464622, 10468606, 10567393, 10635999, 10652215, 10754110, 10807541, 11063725, 11110674, 11226273, 11335753, 11673408, 11854176, 12001267, 12031647, 12200363, 12444097, 12637330, 12827451, 12915460, 14499622, 14630800, 14697762, 14749703, 15192709, 15516848, 15522956, 15523645, 15643609, 15860134, 15917947, 16154163, 16397136, 16515849, 17327415, 17352736, 17452773, 17881891, 18771529, 18810378, 19109555, 19423727, 20001454, 20034732, 21273304, 21567085, 21826217, 22036606, 22343915, 22623785, 23370339, 23585528, 23779253, 23791750, 23898106, 24027083, 24286411, 24356203, 24584348, 24773018, 24859981, 24989076, 24999918, 25070891, 25243787, 25703136, 25762002, 25917546, 25953249, 26201965, 27121516, 27232758, 28060124, 28067166, 28174693, 28215707, 28395741, 28440412, 28544907, 28801449, 28899930, 29089570, 29269525, 29702541, 29891926, 29904161, 30057198, 30809872, 31239491, 31288759, 31461451, 31501599, 31586946, 7581462, 9169126, 9382107, 9628816, 9676027, 9713825, 9721219		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	10090479, 10094191, 10521298, 11739169, 12444097, 12697994, 12955722, 15523645, 15643609, 16084127, 1792455, 17924555, 19278965, 19367192, 19423727, 21273304, 21520333, 22778927, 23613520, 23898106, 24349332, 24584348, 25703136, 26799702, 28102861, 28423363, 28717661, 29098742, 29269525, 8896564, 9371789, 9371798, 9399890, 9711872, 9929978		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	10210316, 10468606, 11001585, 11110674, 11226273, 11739169, 11750104, 12239156, 12637330, 15082718, 15256425, 15299030, 15522956, 15917947, 16397136, 16946016, 19015634, 19109555, 19129235, 19405097, 19423727, 20089964, 20485382, 21273304, 21279724, 21478670, 22194614, 22623785, 22950077, 23021409, 23613520, 24584348, 24704046, 24859981, 24885126, 25108529, 25168418, 25243787, 25762002, 26119737, 26201965, 26841305, 28215707, 28440412, 28864460, 29098742, 29269525, 29400309, 29605812, 29891926, 29904161, 30031030, 30792206, 31288759, 31461451, 31558676, 32487094, 32800766, 33172906, 33832503, 33918752, 34422195, 34512202, 35216452, 35417938, 35854323, 36135330, 36371486, 36971544, 8755924, 9345010, 9345011, 9371798, 9399890, 9713825, 9746759, 9789045	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	12031647, 14749703, 18224251		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	16493006, 19686080, 8896563, 9371798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CTD_human_DG	22482891		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	10090479, 10205272, 10210316, 10232749, 10464622, 10468606, 10567393, 10635999, 10652215, 10754110, 10807541, 11063725, 11110674, 11226273, 11335753, 11673408, 11854176, 12031647, 12200363, 12444097, 12637330, 12827451, 14499622, 14630800, 14697762, 14749703, 15192709, 15516848, 15522956, 15523645, 15643609, 15917947, 16154163, 16397136, 16515849, 17327415, 17352736, 17452773, 17881891, 18771529, 18810378, 19109555, 19423727, 20001454, 20034732, 20485382, 21273304, 21567085, 21826217, 22036606, 22343915, 22623785, 23370339, 23571757, 23585528, 23779253, 23791750, 23898106, 24027083, 24286411, 24356203, 24584348, 24773018, 24859981, 24989076, 25070891, 25243787, 25703136, 25762002, 25917546, 25953249, 26201965, 27232758, 28060124, 28067166, 28174693, 28215707, 28395741, 28440412, 28544907, 28801449, 28899930, 29089570, 29269525, 29702541, 29891926, 29904161, 30057198, 30809872, 31239491, 31288759, 31461451, 31501599, 31535215, 9169126, 9382107, 9628816, 9676027, 9713825, 9721219		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	CLINVAR_DG	10090479, 10094191, 10521298, 10807541, 11050007, 11063725, 11091222, 11739169, 12444097, 12697994, 12955722, 15059067, 15516848, 15522956, 15523645, 15643609, 16084127, 16397136, 16720839, 17726045, 17924555, 19278965, 19367192, 19423727, 20435624, 21273304, 21659346, 22778927, 23613520, 23934222, 23973728, 24037726, 24349332, 24584348, 25525159, 25583207, 25953249, 26136524, 26366677, 26740942, 26799702, 27041517, 28717661, 28864460, 29093742, 29098742, 29269525, 9371798, 9399890, 9929978		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	UNIPROT_DG	10094191, 10210316, 10521298, 10807541, 11091222, 17924555, 9371798, 9399890, 9929978		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	CLINGEN_DG	10431244, 10915769, 11344308, 12913077, 29376519, 8896564		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	GENOMICS_ENGLAND_DG	12913077, 15523645, 16493006, 19686080, 8896563, 8896564, 9371798		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP N	Fanconi Anemia	BEFREE	21567085		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	28215707		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	35112146	Associate	★☆☆☆☆ 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	BEFREE	30496796		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30496796		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	30032139		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	21273304	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	21273304		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	15860134, 28440412	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	23779253		★☆☆☆☆ 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
Hyperinsulinism	Hyperinsulinism	CTD_human_DG	22482891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperplasia	Hyperplasia	Pubtator	19015634	Inhibit	★☆☆☆☆ 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
Infertility	Infertility	Pubtator	16946016, 33172906	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11110674, 20864535, 32638549	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	Myeloid leukemia	Pubtator	12637330	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12637330, 39519198	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12637330, 12685843, 14749703		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	14749703		★☆☆☆☆ 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
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	34791836	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of lower limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of upper limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10098735, 12915460, 21236561, 23021409, 28440412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15860134		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26181256		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19237606		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	24121791		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15860134, 19012493, 21567085, 27834954, 28215707, 30947698, 31558676		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21543111		★☆☆☆☆ Found in Text Mining only
Malpuech facial clefting syndrome	Malpuech facial clefting syndrome	Pubtator	15522956	Associate	★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25243787, 29317335		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Melanoma	Pubtator	25243787, 29317335, 37642678	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma Cutaneous Malignant	Melanoma	Pubtator	25243787	Associate	★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	GWASCAT_DG	20585627		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ 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	27418648	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16280054, 20842729, 30496796		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	35742955	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutropenia	Neutropenia	Pubtator	40358701	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	24045675, 31535215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	15860134		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15860134		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15860134, 32762026	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15591268		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39256447	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	16493006, 8896563		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	28440412, 30368588		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	33172906	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	30496796		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	24045675, 31535215		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26181256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27701467, 28864460, 32234758, 34388386	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
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19264455	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	10232749		★☆☆☆☆ Found in Text Mining only
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	9295289		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	19536649		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	19015634		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33918752, 35954197	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27867017		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stomach Neoplasms	Stomach neoplasms	Pubtator	36833207	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subfertility, Female	Subfertility	BEFREE	31535215		★☆☆☆☆ 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	23825533		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23825533	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	30032139		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	19012493	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19012493	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations