Paraganglioma

Disease Term Disease ID Gene Symbol Classification References Source
Paraganglioma C0030421 DLST Causal Pathogenic evidence from ClinVar - ClinVar
SDHA Causal Pathogenic evidence from ClinVar - ClinVar
SDHAF2 Causal Pathogenic evidence from ClinVar - ClinVar
SDHB Causal Pathogenic evidence from ClinVar 19927285, 30013182 ClinVar
SDHC Causal Pathogenic evidence from ClinVar - ClinVar
SDHD Causal Pathogenic evidence from ClinVar 10657297, 11343322, 11391796, 11391798, 15328326, 21318381 ClinVar
SLC25A11 Causal Pathogenic evidence from ClinVar - ClinVar
ATM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATRX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25231345 -
C11orf65 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCND1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DAXX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EGLN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17579185 -
EPAS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18378852 -
MDH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SSTR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29163802 -
TMEM127 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TP53 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
VHL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27899189 -
PARAGANGLIOMAS 5 C3279992 SDHA Causal Pathogenic evidence from ClinVar 10746566, 15989954, 20484225, 21505157, 21752896, 21858060, 22955521, 22974104, 23043141, 23109135, 23174939, 23612575, 23666964, 23750034, 24694336, 24781757, 25405498, 25488574, 25494863, 25720320, 26173966, 26259135, 26269449, 26722403, 27604308, 28384794, 28546994 ClinVar
PARAGANGLIOMAS 2 (disorder) C1866552 SDHAF2 Causal Pathogenic evidence from ClinVar 19628817 ClinVar
PARAGANGLIOMAS 4 C1861848 SDHB Causal Pathogenic evidence from ClinVar 1523504, 1980289, 2308387, 7143317, 11404820, 11897817, 12000816, 12618761, 14500403, 14715873, 14974914, 15328326, 15987702, 16304664, 16314641, 16317055, 16405730, 16472267, 16912137, 16916404, 17102082, 17102086, 17143317, 17200167, 17308434, 17652212, 17667967, 17943698, 18362451, 18382370, 18419787, 18728283, 18753105, 18840642, 19001511, 19184535, 19189136, 19215943, 19258401, 19351833, 19411806, 19454582, 19576851, 19694205, 19802898, 19825962, 19927285, 20119652, 20208144, 20418362, 20459544, 20503330, 20540712, 20583550, 20592014, 20614293, 21173220, 21348866, 21820839, 21934479, 22270996, 22517554, 22835832, 22972948, 23072324, 23083876, 23175444, 23282968, 23512077, 23666964, 23797725, 23934599, 24436918, 24466223, 24509376, 24523625, 24659481, 24694336, 24939699, 25047027, 25130709, 25298897, 25326637, 25405498, 25683602, 25695889, 25736212, 25873086, 25972245, 26236513, 26259135, 26267327, 26273102, 26642834, 26719882, 26925370, 27539324, 27549546, 27604308, 27604842, 27899189, 28490599, 28738844 ClinVar
SDHC Causal Pathogenic evidence from ClinVar - ClinVar
PARAGANGLIOMAS 3 C1854336 SDHC Causal Pathogenic evidence from ClinVar 11062460, 12658451, 15342702, 16249420, 17667967, 17898811, 19351833, 19454582, 21106325, 22351710, 22517554, 22868853, 23083876, 23282968, 23666964, 24102379, 24402737, 24423348, 24523625, 24758179, 24781345, 27279923, 27700540 ClinVar