Iran Variome Retinitis Pigmentosa Database
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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
Di
: Digenic
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
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00003
RP (AD)
Retinitis Pigmentosa (AD)
-
AD
12
0
BBS1, BEST1, CRX, DMPK, FSCN2, GUCA1A, IMPDH1, IMPG2, KIF21A, LCA5, MFN2, PRCD, PRPF3, PRPF6, RDH12, RHO, SEMA4A, TGFBI, USH2A, ZNF423
-
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