-
Organsysteme
-
Diagnostik
-
Gene
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ACTG1
,
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ADCY1
,
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AIFM1
,
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ATP2B2
,
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BDP1
,
-
BSND
,
-
BTD
,
-
CABP2
,
-
CCDC50
,
-
CD164
,
-
CDC14A
,
-
CDH23
,
-
CEACAM16
,
-
CIB2
,
-
CLDN14
,
-
CLDN9
,
-
CLIC5
,
-
CLRN2
,
-
COCH
,
-
COL11A1
,
-
COL11A2
,
-
COL4A6
,
-
CRYM
,
-
DCDC2
,
-
DFNA5
,
-
DIABLO
,
-
DIAPH1
,
-
DMXL2
,
-
DSPP
,
-
ELMOD3
,
-
EPS8
,
-
EPS8L2
,
-
ESPN
,
-
ESRP1
,
-
ESRRB
,
-
EYA4
,
-
GAB1
,
-
GAS2
,
-
GATA3
,
-
GIPC3
,
-
GJB2
,
-
GJB3
,
-
GJB6
,
-
GPSM2
,
-
GRAP
,
-
GRHL2
,
-
GRXCR1
,
-
GRXCR2
,
-
GSDME
,
-
HGF
,
-
HOMER2
,
-
IFNLR1
,
-
ILDR1
,
-
KARS1
,
-
KCNE1
,
-
KCNQ1
,
-
KCNQ4
,
-
KITLG
,
-
LHFPL5
,
-
LMX1A
,
-
LOXHD1
,
-
LRTOMT
,
-
MAP1B
,
-
MARVELD2
,
-
MCM2
,
-
MET
,
-
MIR96
,
-
MPZL2
,
-
MSRB3
,
-
MT-RNR1
,
-
MT-TS1
,
-
MYH14
,
-
MYH9
,
-
MYO15A
,
-
MYO1A
,
-
MYO3A
,
-
MYO6
,
-
MYO7A
,
-
NARS2
,
-
NLRP3
,
-
OSBPL2
,
-
OTOA
,
-
OTOF
,
-
OTOG
,
-
OTOGL
,
-
P2RX2
,
-
PCDH15
,
-
PDE1C
,
-
PDZD7
,
-
PJVK
,
-
PLS1
,
-
PNPT1
,
-
POU3F4
,
-
POU4F3
,
-
PPIP5K2
,
-
PRPS1
,
-
PTPRQ
,
-
RDX
,
-
REST
,
-
RIPOR2
,
-
ROR1
,
-
S1PR2
,
-
SCD5
,
-
SERPINB6
,
-
SIX1
,
-
SLC12A2
,
-
SLC17A8
,
-
SLC22A4
,
-
SLC26A4
,
-
SLC26A5
,
-
SLC52A2
,
-
SLC52A3
,
-
SMPX
,
-
SPNS2
,
-
STRC
,
-
SYNE4
,
-
TBC1D24
,
-
TECTA
,
-
TJP2
,
-
TMC1
,
-
TMEM132E
,
-
TMIE
,
-
TMPRSS3
,
-
TNC
,
-
TPRN
,
-
TRIOBP
,
-
TRRAP
,
-
TSPEAR
,
-
USH1C
,
-
WBP2
,
-
WFS1
,
-
WHRN
Stäbchen-Zapfen-DystrophieMarfan Syndrom
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