Hereditary paraganglioma-pheochromocytoma syndromes

Disease Term Disease ID Gene Symbol References
Hereditary Paraganglioma-Pheochromocytoma Syndrome C1708353 EPAS1 23090011, 23533246, 27535533
FH 15987702, 24334767, 17520677, 23707781, 26472283, 25004247
GDNF 9215674
MAX 21685915, 7791753, 23551045, 7630640, 22452945, 1730412, 27838885, 23666964, 22323561, 24676840, 22429592, 1459463
MDH2 25766404
MEN1 12016472, 20937862, 25494863, 23778871, 10598193
MET 26700204
MITF 27680874
NF1 17426081, 18510707, 23010473, 7920653, 1377942, 7519874, 16787982, 23407919, 7542904, 19763184
RET 21784903, 10522989, 8825918, 9012462, 28162975, 20039896, 9294615, 7824936, 12000816, 8099202, 8918855, 10675330
SDHA 20484225, 23633203, 23666964, 16195397, 23750034, 16103922, 21752896, 21784903
SDHB 28374168, 17667967, 16317055, 18362451, 26173966, 25326637, 16405730, 21934479, 22429592, 28349240, 17884808, 16314641, 24466223, 18419787, 12618761, 22517554, 17200167, 14715873, 25972245, 18382370, 24659481, 29386252, 25371406, 17102082, 11404820, 23175444, 21909610, 12000816, 19454582, 16916404, 23083876, 22041710, 21348866, 24523625, 26916530, 12364472, 22517557, 14500403, 20505258, 28324028, 16912137, 19522823, 12807974, 26719882, 23282968, 15328326, 25683602, 16288654, 16103922, 15988378, 19001511, 15987702
SDHC 15342702, 22703879, 23175444, 16405730, 11062460, 23666964, 12658451, 21784903, 25024072, 11426453, 19351833, 27279923, 25394176, 27700540, 23083876, 24728327, 24102379, 24423348, 21106325, 16249420, 22868853, 24758179, 24523625, 17667967, 17898811, 19454582, 24781345
SDHD 21945342, 21937622, 12782822, 25695889, 11391798, 10323245, 19258401, 15066320, 12811540, 24436918, 11156372, 19825962, 19454582, 21348866, 11391796, 12111639, 11897817, 22241717, 11343322, 17563904, 15328326, 8981955, 17102085, 21784903, 16103922, 22456618, 26096992, 10657297, 17576205, 23175444, 17406045, 21792967
VHL 8825918, 19763184, 1680799, 16103922, 19056893, 20583150, 10458336, 8592333, 11475579, 21784903, 12500216, 19252526
KMT2D 26032282
BAP1 22889334
MERTK 26700204
KIF1B 23010473, 18726616, 18334619, 24469107, 24694336
EGLN1 25263965, 16161047, 19092513, 21933857, 18505927, 19092153
SDHAF2 28099933, 21224366, 22241717, 24414418, 20071235, 21348866, 19628817, 8388849, 6286462, 24322175, 26096992, 6264239
TMEM127 21784903, 22419703, 25800244, 26960314, 21613359, 22136840, 22541004, 20154675, 20923864, 21156949
EGLN2 25263965