Fanconi anemia

Disease Term Disease ID Gene Symbol Classification References Source
Fanconi anemia 84 BRCA1 Causal Pathogenic evidence from ClinVar - ClinVar
BRCA2 Causal Pathogenic evidence from ClinVar - ClinVar
BRIP1 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC4 Causal Pathogenic evidence from ClinVar - ClinVar
FANCA Causal Pathogenic evidence from ClinVar - ClinVar
FANCB Causal Pathogenic evidence from ClinVar - ClinVar
FANCC Causal Pathogenic evidence from ClinVar - ClinVar
FANCD2 Causal Pathogenic evidence from ClinVar - ClinVar
FANCE Causal Pathogenic evidence from ClinVar - ClinVar
FANCF Causal Pathogenic evidence from ClinVar - ClinVar
FANCG Causal Pathogenic evidence from ClinVar - ClinVar
FANCI Causal Pathogenic evidence from ClinVar - ClinVar
FANCL Causal Pathogenic evidence from ClinVar - ClinVar
FANCM Causal Pathogenic evidence from ClinVar - ClinVar
PALB2 Causal Pathogenic evidence from ClinVar - ClinVar
RAD51 Causal Pathogenic evidence from ClinVar - ClinVar
RAD51C Causal Pathogenic evidence from ClinVar - ClinVar
Fanconi Anemia C0015625 BRCA1 Causal Pathogenic evidence from ClinVar 25472942, 26644450, 28297620, 29133208 ClinVar
BRCA2 Causal Pathogenic evidence from ClinVar 11185744, 15070707, 15645491, 16825431, 21548014, 21719596, 23788249, 23893897, 25085752, 25525159, 25682074, 26834852, 26920070, 28297620 ClinVar
BRIP1 Causal Pathogenic evidence from ClinVar 16116423, 16116424, 20639400, 21964575, 26968956 ClinVar
ERCC4 Causal Pathogenic evidence from ClinVar 23623386, 28297620 ClinVar
FANCA Causal Pathogenic evidence from ClinVar 1792455, 8896563, 8896564, 9371789, 9371798, 9399890, 9711872, 9929978, 10090479, 10094191, 10521298, 11739169, 12444097, 12697994, 12955722, 15523645, 15643609, 16084127, 16493006, 17924555, 19278965, 19367192, 19423727, 19686080, 21273304, 21520333, 22482891, 22778927, 23613520, 23898106, 24349332, 24584348, 25703136, 26799702, 28102861, 28423363, 28717661, 29098742, 29269525 ClinVar
FANCB Causal Pathogenic evidence from ClinVar 28297620 ClinVar
FANCC Causal Pathogenic evidence from ClinVar 1574115, 7689011, 8081385, 8103176, 8128956, 8348157, 8639804, 8844212, 8882868, 9207444, 10666230, 16429406, 16493006, 17924555, 19686080, 22482891, 22778927, 23028338, 24584348, 26681312, 26740942, 26990548, 27133164, 27881370, 28425259 ClinVar
FANCD2 Causal Pathogenic evidence from ClinVar 11239453, 11239454, 14667412, 17308347, 17436244, 19686080, 23613520 ClinVar
FANCE Causal Pathogenic evidence from ClinVar 7662964, 10205272, 19686080 ClinVar
FANCF Causal Pathogenic evidence from ClinVar 10615118, 15262960, 19686080 ClinVar
FANCG Causal Pathogenic evidence from ClinVar 9806458, 9806548, 10807541, 11093276, 11438206, 12552564, 12673805, 16493006, 19686080, 22778927, 25703136, 28717661 ClinVar
FANCI Causal Pathogenic evidence from ClinVar 11239453, 17452773, 19686080, 26296701, 28297620 ClinVar
FANCL Causal Pathogenic evidence from ClinVar 12973351, 16474160, 17938197, 19111657, 19405097, 19686080, 23613520, 24389026, 25754594, 27153395, 28297620 ClinVar
FANCM Causal Pathogenic evidence from ClinVar 16116422, 19423727, 25078778, 25288723, 26740942, 27542569, 28297620, 28376765, 28837157, 28837162 ClinVar
PALB2 Causal Pathogenic evidence from ClinVar 17200671, 17200672, 28297620 ClinVar
RAD51 Causal Pathogenic evidence from ClinVar 26681308, 28297620 ClinVar
RAD51C Causal Pathogenic evidence from ClinVar 19686080, 20400963, 22167183, 28297620 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP S C4554406 BRCA1 Causal Pathogenic evidence from ClinVar 23269703, 25472942, 26644450, 29133208, 29376519, 29712865, 31347298 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 C1838457 BRCA2 Causal Pathogenic evidence from ClinVar 11861370, 12065746, 14670928, 15070707, 15689453, 16825431, 16859999, 21719596, 23108138, 23788249, 24395671, 28185119, 29376519, 29661970, 30207912 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP J C1836860 BRIP1 Causal Pathogenic evidence from ClinVar 14630800, 16116421, 16116423, 16116424, 16153896, 16280053, 16973432, 17033622, 18628483, 19127258, 19763819, 20159562, 20616022, 20639400, 21127055, 21345144, 21964575, 22006311, 22792074, 24240112, 24448499, 24556621, 24763289, 25058500, 25186627, 25330149, 25452441, 25525159, 25980754, 26270727, 26315354, 26490168, 26556299, 26637282, 26681312, 26681682, 26689913, 26720728, 26786923, 26822949, 26824983, 26845104, 26921362, 26976419, 27107905, 27153395, 27165003, 27179029, 27433846, 27443514, 27462233, 27498913, 27701467, 28423363, 28495237, 28961279, 29368626 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP Q C3808988 ERCC4 Causal Pathogenic evidence from ClinVar 3372781, 20221251, 21612988, 22044607, 23623386, 23623389, 24027083, 26074087, 26453996, 26884178 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP B C1845292 FANCB Causal Pathogenic evidence from ClinVar 15502827, 16679491, 17924555, 21910217, 26683739 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP C C3468041 FANCB Causal Pathogenic evidence from ClinVar - ClinVar
FANCC Causal Pathogenic evidence from ClinVar 1574115, 1641028, 7492758, 8081385, 8103176, 8128956, 8348157, 8499901, 8630504, 8639804, 8703809, 8704201, 8829660, 8844212, 8882868, 9207444, 9242535, 9452030, 10431244, 10666230, 10994546, 11110674, 11427142, 11520787, 12093742, 12670332, 15299030, 15364573, 16015582, 16429406, 16493006, 17924555, 19622403, 19686080, 20507306, 20509860, 20606166, 20869034, 22701786, 22720145, 23028338, 23634996, 23934222, 24469828, 24584348, 25801821, 26466335, 26681312, 26689913, 29376519, 29439820, 29922827 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 C3160738 FANCD2 Causal Pathogenic evidence from ClinVar 11239453, 11239454, 12893777, 19686080 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP E C3160739 FANCE Causal Pathogenic evidence from ClinVar 7662964, 9382107, 10205272, 11001585, 17924555, 19686080 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP F C3469526 FANCF Causal Pathogenic evidence from ClinVar 9382107, 10615118, 16084127, 19686080, 26033879 ClinVar
fanconi anemia complementation group g C3469527 FANCG Causal Pathogenic evidence from ClinVar 9806548, 11093276, 11719385, 11823446, 12552564, 15657175, 16493006, 18550849, 19686080, 20606166, 23613520, 24763404, 29376519 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP I C1836861 FANCI Causal Pathogenic evidence from ClinVar 11239453, 17412408, 17452773, 17460694, 17924555, 19686080, 21324748, 22720145, 24989076, 26590883 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP L C3469528 FANCL Causal Pathogenic evidence from ClinVar 12724401, 16474160, 19405097, 19686080, 23613520, 25239263, 25659033, 25754594, 27153395 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP N C1835817 PALB2 Causal Pathogenic evidence from ClinVar 17200671, 17200672, 20484223, 22193777, 29376519 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP R C4284093 RAD51 Causal Pathogenic evidence from ClinVar 26253028, 26681308 ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP O C3150653 RAD51C Causal Pathogenic evidence from ClinVar 12966089, 19686080, 20400963, 20400964, 21537932, 21616938, 21750962, 21990120, 22006311, 22167183, 22232082, 22451500, 22538716, 22725699, 24139550, 24141787, 24315737, 24549055, 24800917, 24993905, 25086635, 25292178, 25452441, 25980754, 26057125, 26261251, 26270727, 26354865, 26681312, 26687385, 26689913, 26720728, 26740214, 26822949, 26824983, 26848151, 27328445, 27433846, 27616075, 27622768, 27913932, 28905878, 29278735 ClinVar