Hereditary paraganglioma-pheochromocytoma syndromes

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