To access more data, such as phenotypic and clinical characteristics of patients, contact us at canvas@rrp.demokritos.gr
CanVaS - A Greek Cancer Patient Genetic Variation Resource
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Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
4 entries on 1 page. Showing entries 1 - 4.
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Legend
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00139
MC2D
Mitochondrial complex II deficiency
252011
-
0
0
SDHD
-
-
00140
PGL1
Paragangliomas 1, with or without deafness
168000
-
0
0
SDHD
-
-
00137
PGLGSS
Paraganglioma and gastric stromal sarcoma
606864
-
0
0
SDHB, SDHC, SDHD
-
-
00087
Pheo
Pheochromocytoma, susceptibility to
171300
-
23
23
MAX, RET, SDHB, SDHD, TMEM127, VHL
-
-
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