rs1555187633, SDHD

N. diseases: 1
Disease: Paraganglioma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.700 GeneticVariation UNIPROT Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326 2004
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.700 GeneticVariation UNIPROT Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.700 GeneticVariation UNIPROT Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. 11343322 2001
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.700 GeneticVariation UNIPROT Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798 2001
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.700 GeneticVariation UNIPROT Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297 2000