Disease Term Disease ID Gene Symbol References
Hereditary Breast and Ovarian Cancer Syndrome C0677776, 145 ATM 27067391, 26898890
BARD1 25980754, 26010302, 26483394, 28174632, 26315354, 26075229, 29292755, 21344236, 25330149, 15342711, 25994375, 20077502, 28050010
BRCA1 9333265, 17902052, 8554067, 17924331, 20352487, 14513821, 12673801, 19706752, 22535016, 22855649, 12815598, 18512148, 20127978, 9663595, 12672316, 22144684, 18489799, 27616075, 27433846, 19949876, 9150154, 20694749, 27081505, 9362443, 22655046, 20189727, 26757417, 22864640, 10571952, 22762150, 20215423, 12955716, 10682686, 11102986, 9150171, 10866029, 22006311, 22172724, 14576432, 9042909, 27273131, 16452482, 22460208, 9625424, 9609997, 10882857, 27393621, 27831900, 17922257, 20103620, 22277901, 27836010, 22685544, 27914478, 17493881, 12955719, 10788334, 12698193, 22044689, 17591842, 22711857, 10946236, 12810666, 9145677, 12732733, 16168118, 19863560, 22505045, 27425403, 12014998, 18340530, 10811118, 17453335, 22333603, 10422801, 26884819, 27272900, 10923033, 19656164, 21394826, 21520333, 28781887, 8674039, 22399190, 16457150, 19996028, 7545954, 2206311, 16683254, 8808710, 20373018, 21922593, 10196379, 17688236, 29712865, 27376475, 16112002, 11506493, 25802882, 21990134, 10699917, 21735045, 20104584, 16162645, 7663517, 23320992, 12960223, 27157322, 25834617, 10644434, 23269703, 12827452, 12491499, 27741520, 19941167, 19629752, 18679828, 12700893, 24607278, 21765009, 9159158, 11773283, 27553291, 26541979, 24549055, 21603858, 26956035, 10612800, 18627636, 21990165, 12019214, 20215541, 9544766, 23034506, 15887246, 23867111, 25682074, 26727311, 9792861, 23149842, 11606101, 23110154, 14576433, 30765603, 10498392, 18980973, 22425665, 16758124, 19553641, 11739404, 30736279, 23569316, 18403564, 12427738, 12566964, 10660329, 12759930, 21324516, 18424508, 28944232, 12505256, 19941162, 11896095, 11720839, 27062684, 9042907, 21863257, 26543556, 8644702, 11802209, 15353005, 27225819, 23192404, 9760198, 17221156, 9452076, 16782705, 7606717, 12655560, 21769658, 15937982, 11748305, 9361038, 15955237, 22032251, 22010008, 23635950, 10682662, 19016756, 19452558, 21725363, 16616110, 26787237, 8595428, 9746028, 27083178, 8602198, 26439132, 24845084, 19543972, 18992264, 16912212, 22498944, 19499246, 30254663, 26315209, 24372583, 26287763, 24742220, 22896685, 24137399, 16998791, 24489791, 15883839, 19340607, 30078507, 7837387, 30093976, 26681312, 26843898, 21503673, 8533757, 15172985, 9796975, 22970155, 14976165, 12496477, 12497638, 10502781, 8642955, 26822237, 10486320, 8933332, 23658460, 11956590, 22160602, 15290653, 29936257, 14647443, 21946536, 27331142, 22652532, 12491487, 11870168, 21553119, 26852130, 19404736, 18159056, 26182302, 19648928, 26718727, 10737987, 10595257, 14760071, 21913181, 10686936, 16280041, 8990217, 26402875, 8606385, 21989927, 21918854, 12655515, 16030099, 21993507, 26622941, 19656415, 22889855, 9649133, 28414925, 24249303, 23788249, 23704984, 8900426, 8776600, 26306726, 22185575, 8531967, 21673748, 7493024, 22366370, 15340362, 25748678, 26681682, 26780556, 17308087, 23697973, 23767878, 17851763, 12360400, 26976419, 31341520, 8807330, 19377795, 12142080, 12872265, 11927492, 8944023, 22034289, 24728189, 11437933, 11436123, 15024741, 23788959, 23451180, 16949048, 19370767, 19367322, 25400221, 23096105, 25371446, 25646469, 24729269, 10359546, 10464631, 7894491, 10480351, 23683081, 19491284, 18285836, 14746861, 12402332, 19241424, 20859677, 15781624, 23536787, 23161852, 15235020, 22752604, 23772696, 17063270, 15689452, 22009639, 16287141, 12453858, 26911350, 10667595, 12402341, 27067391, 29673794, 9523200, 26913838, 11595708, 19912264, 28123851, 24212087, 26845104, 26833046, 26656232, 15728167, 19352458, 9497265, 11149413, 17925560, 22776961, 16284991, 11428389, 11802208, 16404418, 28490613, 7894492, 16047344, 16101277, 26350514, 25652403, 23318652, 11576847, 18006916, 18693280, 22382806, 27208206, 10508480, 14757871, 18680205, 10804288, 14648706, 22763381, 9525870, 16760289, 8875986, 23580280, 23096355, 22811390, 19267246, 10053113, 16267036, 26745875, 8531968, 30209399, 9921907, 25814778, 15385441, 10945975, 14871810, 24240112, 23958087, 12360411, 31347298, 22430266, 11015464, 25556971, 22848303, 15004537, 22739995, 27153395, 27082205, 25330149, 29446198, 21080930, 20180014, 18312450, 25971625, 23199084, 15951958, 25940717, 20737206, 9805131, 11389159, 18042939, 22476429, 29297111, 18645608, 29661970, 25366075, 18036263, 8571953, 11857748, 29907814, 9145676, 22516946, 26848529, 16211554, 12181777, 12601471, 20222996, 21965345, 9808526, 29021639, 15923272, 23940062, 24131973, 24171766, 26026974, 12204006, 18418466, 23633455, 22753008, 25724305, 9482581, 11320250, 20875879, 17080309, 23278966, 16528612, 11748848, 15533909, 19123044, 28050010, 15125843, 25256238, 27802165, 22798144, 21643751, 25896959, 7894493, 26689913, 19287957, 25281711, 30262796, 18092194, 8595420, 16685647, 18779604, 25884701, 28263838, 23982851, 23725378, 16528604, 27886673, 17826769, 21520273, 17574969, 11056688, 23374397, 12938098, 9715372, 25085752, 16826315, 23164213, 14534301, 21447777, 24578176, 29997359, 15726418, 15800311, 22923021, 25070656, 15951956, 10951344, 25248401, 21203900, 23239986, 23704879, 26028024, 10952774, 12400015, 21614564, 17305420, 25366421, 8968102, 26577449, 8644703, 26786923, 20516115, 26824983, 29088781, 12354934, 20507347, 17100994, 10389907, 25136594, 25066507, 12920083, 11573086, 11385711, 17319787, 30257991, 12393792, 24307375, 17592676, 20051372, 24916970, 8723683, 18465347, 23289006, 10506595, 8651293, 20167696, 9667259, 16777318, 19200354, 15477862, 17262179, 29470806, 25348012, 14614327, 22843421, 18375895, 18819001, 12879478, 17148771, 19770520, 10866028, 25927356, 11030418, 7611277, 24719479, 21324156, 2246425, 10528853, 28324225, 24010542, 19818148, 24285858, 7939630, 12048272, 21559243, 16835750, 20526115, 23479189, 20960228, 16644204, 12097257, 11938448, 27495310, 21523855, 15569676, 11920621, 12112655, 26250392, 24961674, 22713736, 15133503, 27257965, 9150153, 25151137, 15146556, 21465171, 23961350, 20345474, 19837273, 9699640, 24660075, 24797986, 25428789, 19493677, 26187060, 15799620, 30458859, 18763032, 27167707, 26022348, 16403807, 11810084, 20683152, 15829246, 25236687, 16905680, 9799248, 16615107, 11526114, 26052229, 25880076, 19067236, 23613828, 24504028, 21597964, 24884479, 24667779, 25628955, 16619214, 25186627, 20681793, 25716084, 28179634, 15365993, 19594371, 28724667, 7795652, 20455026, 20569256, 9150149, 27974384, 25036526, 15168169, 23210696, 12915465, 25476495, 11278247, 19147582, 11263928, 11916966, 11979449, 11933205, 24824628, 22874498, 16774946, 10441573, 18165637, 25418591, 25472942, 21895635, 11179017, 21751003, 16140926, 23884293, 23621881, 24827135, 19563646, 20924075, 23397983, 16324400, 15876480, 11304778, 20406929, 10755399, 28294317, 11149425, 21232165, 26864382, 21205087, 11183185, 20513136, 28265380, 25863477, 11039575, 7627958, 15591272, 20609467, 10406662, 23519070, 26052455, 15865297, 15951957, 28873162, 15515971, 24772314, 28664506, 20858050, 30055521, 17574839, 21348412, 23522120, 9150151, 28503720, 21473589, 15117986, 25452441, 9664122, 18821011, 21309043, 18694767, 16847550, 17645508, 26083025, 25777348, 23113073, 11106241, 15133502, 15131401, 26010302, 24013928, 17233897, 28637432, 11462242, 11733976, 11597388, 18397521, 25948282, 27697421, 18066063, 11710890, 24737347, 28122244, 11410501, 25525159, 16417652, 14522380, 23996866, 26023681, 25637381, 11556835, 18284688, 15994883, 23317271, 24333842, 28283652, 11781691, 17624602, 18824701, 23233716, 26296701, 15382066, 8942979, 11157798, 14684619, 11493753, 15063971, 28186987, 25980754, 28176296, 15146557, 24448499, 11139249, 28127413, 18757339, 20727672, 25480878, 18413725, 24516540, 10323242, 21305653, 16489001, 10417303, 17591843, 28111427, 11109172, 18762988, 9667663, 26219728, 11250694, 14517958, 11504767, 11256609, 19098453, 21156238, 21063910, 18703817, 15026808, 29255180, 26221963, 23274591, 21666281, 14531499, 18559594, 25823446, 20020529, 16455195, 24312913, 20151938, 21120943, 26852015, 19329713, 17005433, 21281505, 18445692, 21702907, 20378548, 27531819, 18783588, 11084537, 10984458, 21356067, 22434525
BRCA2 17591842, 28281021, 18951449, 21138478, 26360800, 17924331, 25628955, 23583677, 21702907, 24916970, 21719596, 23983145, 16489001, 18284688, 24082139, 9792861, 20694749, 18182994, 23613520, 19714488, 19863560, 20859677, 10498392, 20608899, 16115142, 16912212, 19563646, 23415752, 27356891, 15168169, 14555518, 9840533, 19656164, 9537232, 18824701, 23524863, 15070707, 16792514, 26913838, 20807450, 20151322, 17262179, 22762150, 26915939, 9585608, 23479189, 20020529, 23683081, 22366370, 21203900, 14732925, 20567915, 15146557, 10359546, 19471317, 15131399, 23569316, 20223018, 25802882, 9643283, 25637381, 15117986, 21597964, 19818148, 18821011, 26564481, 25896959, 20383589, 22401979, 30103829, 11389159, 24156927, 23893897, 20353281, 8706004, 10699917, 26543556, 23725378, 20616022, 19329713, 22666503, 25480878, 29368341, 21184276, 20960228, 21671020, 23028338, 11179017, 25447315, 29969168, 17515903, 10785486, 2073695, 11812938, 20167696, 29988080, 11793480, 27376475, 18563556, 20104584, 28993434, 25685387, 20513136, 21990165, 21720365, 28975465, 24742220, 23929434, 24556621, 24307375, 24607278, 30425037, 25111659, 16683254, 19941167, 23318356, 25452441, 12955716, 18694767, 26350514, 21735045, 21305653, 22776961, 24448499, 10486320, 28724667, 20683152, 19542536, 26287763, 10070953, 18724707, 19043619, 11897832, 29661970, 21232165, 29707112, 25366421, 28765325, 26757417, 16875939, 23249957, 23096355, 9537231, 24301060, 11056688, 29785135, 14531499, 23788249, 28284943, 21993507, 11149425, 20201734, 19949876, 22962691, 19656415, 12928470, 26546047, 28039656, 14757871, 24013928, 11504767, 9042907, 27225637, 23451180, 17333343, 23199084, 25085752, 29394989, 25330149, 26586665, 26834852, 24963353, 26317927, 12048272, 23320992, 18951446, 21614564, 11102986, 19796187, 26296696, 16998791, 8896551, 28726806, 10188893, 9150172, 26137147, 25382762, 16170354, 25884701, 28720843, 24333842, 29983880, 15695382, 12649099, 27433846, 18627636, 25146914, 15026808, 25186627, 14647210, 22711857, 26659639, 11512557, 19806429, 18403564, 15217494, 27393621, 27062684, 26843898, 23635950, 17565157, 9609997, 26852130, 26689913, 27425403, 25479140, 10227398, 21769658, 21643751, 23531862, 10899649, 22923021, 11185744, 17224268, 7627958, 9150155, 15889636, 14574168, 9042909, 14559878, 11595708, 9429140, 23397983, 26147798, 11102978, 28008555, 22752604, 9012404, 12920083, 12759930, 26845104, 22044689, 20033483, 21394826, 27553291, 25256924, 26968956, 19619314, 17011978, 10923033, 12181777, 26577449, 17453335, 18439106, 18594331, 19620486, 21965345, 28538113, 21990299, 24735155, 26010302, 24728189, 18703817, 10417300, 19369211, 28339459, 22072316, 26439132, 24728577, 29907814, 21520333, 25236687, 25371446, 23884708, 25948282, 26296701, 22729890, 9758598, 11879560, 12845657, 16211554, 17020472, 16619214, 25864590, 24249303, 8968085, 26556299, 21318380, 21709188, 18465347, 16931905, 18607349, 25342642, 15994883, 24830819, 19016756, 28873162, 11844822, 22632462, 29439820, 20858050, 27083178, 25940717, 25652403, 22109874, 16978908, 27616075, 30078507, 24212087, 24323938, 17063270, 26219728, 27257965, 24240112, 16168123, 22160602, 22399190, 11754111, 12655515, 26250392, 22866093, 26306726, 24737347, 8673089, 16418514, 26852015, 18446624, 28664506, 17997147, 25777348, 30883759, 28195393, 15876480, 24312913, 10874312, 21895635, 26848529, 22678057, 20215541, 23233716, 26681312, 16764716, 10090482, 18424508, 15172125, 17640379, 21233401, 15951958, 27225819, 21939546, 19179552, 22025144, 11873550, 12543786, 11920643, 11938448, 12491487, 16615107, 30630528, 18489799, 11102977, 21218378, 26911350, 29566657, 18042939, 21934105, 29464067, 25428789, 25476495, 17972171, 22977638, 11039575, 15887246, 15635067, 19491284, 30093976, 21190077, 17700570, 14574155, 1513140, 24814045, 10682686, 24504028, 24123850, 17100994, 22771033, 26920070, 14672397, 23110154, 18779604, 8673090, 23772696, 26824983, 14662532, 24728327, 15004464, 25716084, 26023681, 15340362, 11890985, 12474142, 18451181, 10644434, 21204799, 9361038, 22720145, 16047344, 16826315, 22382806, 21120943, 17026620, 18097605, 12601471, 9145676, 15955690, 21548014, 29339979, 16140926, 12872265, 1295571, 8988179, 11606101, 25504618, 11710835, 23108138, 16261400, 16550498, 17636422, 19654294, 23633455, 24010542, 28299801, 26761715, 26014432, 22006311, 22682623, 19353265, 18597679, 12142080, 15382066, 12461697, 16168118, 10196379, 23754601, 23469205, 14981104, 27836010, 11307153, 16539696, 28454591, 29922827, 23697973, 22895246, 11802209, 12161611, 30263092, 18497862, 22426013, 27741520, 26026974, 12960223, 27603373, 18393245, 23096105, 21324516, 29884136, 26657402, 12161607, 12938098, 25395318, 19188187, 12673801, 16112002, 24065114, 26976419, 17899372, 27157322, 16644204, 26483394, 23704984, 19941162, 11920621, 24961674, 12442275, 27831900, 24094589, 22430266, 10449599, 23328489, 21523855, 8758903, 18445692, 19241424, 23767878, 27798748, 26004055, 8640235, 17063265, 24321281, 23885733, 23593081, 17591843, 12065746, 28680148, 21990134, 28831036, 22505045, 27406733, 17688236, 11597388, 27082205, 20002770, 20373018, 15858120, 15519522, 17972177, 22460208, 22713736, 23242139, 21947752, 19340607, 19298662, 16324400, 22486713, 16949048, 12698193, 10978364, 21520273, 15290653, 15024741, 17148771, 26046366, 22527104, 25850536, 18176857, 15918047, 21989927, 28152038, 12203997, 10638982, 9634522, 21918853, 20927582, 19423647, 15533909, 14670928, 9145678, 25072261, 11843247, 18593900, 15937982, 22009639, 22144684, 21638052, 19200354, 28049253, 28814288, 22034289, 11106360, 11972384, 12414830, 18286383, 28205045, 23961350, 12097290, 25066507, 19530235, 12569143, 16528604, 24578176, 11030417, 12942367, 26787237, 29446198, 12750261, 28423363, 25136594, 27194814, 15689453, 17592676, 22085629, 28294317, 16030099, 9133456, 9585613, 18006916, 16793542, 10550133, 23942203, 24145998, 14517958, 20127978, 11030418, 15728167, 28324225, 23179792, 16905680, 16284991, 9150154, 12373604, 25525159, 25586199, 26867194, 16234499, 9971877, 19805903, 24013206, 20736950, 19912264, 12606139, 25980754, 19478387, 14973102, 25639900, 12655560, 18783588, 22535016, 25485004, 15944772, 23621881, 9667259, 26187060, 24549055, 8705994, 17971607, 22798144, 26733283, 18712473, 16455195, 26709275, 10615237, 16162645, 21952622, 22970155, 29084914, 10790213, 23035815, 22638694, 17761984, 16616110, 12145750, 11207042, 18092194, 12655574, 14985394, 29088781, 17513806, 23231788, 12112655, 25863477, 27886673, 15645491, 29176636, 12204006, 27732944, 26687385, 24131973, 1859433, 11400546, 27469594, 22217648, 11139248, 11857748, 19609323, 22228431, 28637432, 10717622, 10807692, 21913181, 28477318, 17826769, 14684619, 24959366, 21607582, 17445839, 27083775, 16825431, 12491499, 8524414, 16920162, 12655567, 14746861, 28525389, 24155753, 25556971, 21465317, 17925560, 9150150, 28288110, 11044354, 27060066, 25682074, 28127413, 9245992, 21559243, 12774040, 8673091, 26221963, 11304778, 26681682, 16758124, 9167459, 16847550, 8589730, 17851763, 28291774, 9150152, 15733268, 10969800, 12624152, 9766673, 11241844, 25007954, 29470806, 19949853, 12100744, 12672316, 16760289
MLH1
MRE11 26898890, 14684699, 22006311
NBN 22006311, 24549055, 14684699
PTEN 23779253
RAD51 24114315, 10807537
RAD51C 21990120, 26848151, 26681312, 29409816, 27230542, 26261251, 24993905, 25154786, 22538716, 20400964, 21616938, 22810696, 25086635, 28829762, 22451500, 29922827, 26740214, 23117857, 25470109, 26976419
RAD51B 26898890
RAD51D 22986143, 20665887, 27083178, 26976419, 25445424, 24139550, 21822267, 28646019, 26057125, 23372765, 28423363, 26659639, 26845104, 26261251, 24130102, 24240112, 26681312
TP53 22877736, 21514416, 18575712, 24884479, 25056374, 24916180, 23779253
RAD50 22006311, 14684699
CHEK2 16551709, 26845104, 18571837, 28981386, 25503501, 30152102, 21562711, 24556621, 26898890, 26534844, 29785153, 15649950, 22419737, 21244692, 25318351, 27798748, 27621404, 24506336, 24763289, 18085035, 26681312, 28135139, 28495237, 16914568, 18706089, 28727877
PALB2 26534844, 21409391, 27783279, 21182766, 21365267, 24448499, 23779253, 26250988, 27067391, 24556926, 26898890, 19264984, 24763289, 26681312, 24206657, 27624329, 23448497, 19763884, 28281021, 21618343, 23977390, 21285249, 17200671, 21165770, 25099575, 26315354, 19609323
BRIP1 24448499, 17033622, 25646469, 26315354, 30728895, 29625052, 16116423, 24763289, 26681312, 26786923, 25186627, 25980754, 30130155
ABRAXAS1
RPL21P4
C11orf65 26898890