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Israeli Medical Genetic Database
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The Faculty of Medicine
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עברית
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606407
AAAS
ABCA1
ABCA12
ABCA3
ABCA4
ABCB11
ABCB4
ABCC2
ABCC6
ABCC8
ABCD1
ABCG8
ABHD5
ACACB
ACAD9
ACADM
ACADS
ACADSB
ACADVL
ACAT1
ACBD6
ACD
ACE
ACER3
ACKR1
ACO2
ACOX1
ACOX2
ACP5
ACSF3
ACTA1
ADA
ADA2
ADAM22
ADAM9
ADAMTS10
ADAMTS13
ADAMTS19
ADAMTS2
ADAMTSL2
ADAMTSL4
ADAR
ADARB1
ADAT3
ADCY5
ADD3
ADGRG1
ADGRG6
ADGRV1
ADH5
ADPRHL2
ADSL
ADSSL1
AFG2B
AFP
AGA
AGBL5
AGK
AGL
AGPAT2
AGT
AGTPBP1
AGTR1
AGXT
AHI1
AHR
AHSG
AICDA
AIMP1
AIMP2
AIPL1
AIRE
AK2
ALB
ALDH18A1
ALDH1A3
ALDH3A2
ALDH5A1
ALDH7A1
ALDOB
ALG1
ALG3
ALG8
ALMS1
ALOX12B
ALOXE3
ALPK3
ALPL
ALS2
AMACR
AMHR2
AMN
AMPD1
AMPD2
AMT
ANO10
ANO5
ANTXR2
AP1B1
AP1S1
AP4B1
AP4E1
AP4M1
AP4S1
APC
APOA1
APRT
APTX
AQP2
ARFGEF2
ARG1
ARHGDIA
ARHGEF9
ARL13B
ARL2BP
ARL6
ARL6IP1
ARMC9
ARNT2
ARPC1B
ARSA
ARSB
ARSG
ARV1
ASAH1
ASCC1
ASL
ASNS
ASPA
ASPM
ASS1
ATAD3A
ATF6
ATM
ATP13A2
ATP13A3
ATP5MD
ATP6AP1
ATP6V0A2
ATP6V1A
ATP6V1B1
ATP7B
ATP8A2
ATP8B1
ATRN
ATXN3
AVP
B3GALNT2
B4GALNT1
B4GALT1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCAS3
BCHE
BCKDHA
BCKDHB
BCS1L
BEST1
BICD1
BLM
BLNK
BLOC1S3
BLOC1S6
BMP1
BMP15
BMPER
BMPR1A
BMPR1B
BOLA3
BPGM
BRAT1
BRCA1
BRCA2
BRF1
BRIP1
BSND
BTD
BTK
C12orf65
C19orf12
C19orf70
C1QB
C1QC
C3
C6
C7
C8B
C8orf37
C9orf72
CA12
CA2
CA4
CABP2
CABP4
CACNA1D
CACNA1F
CACNA2D2
CACNA2D4
CACNB1
CACNB2
CAD
CAMSAP1
CANT1
CAP2
CAPN1
CAPN12
CAPN15
CAPN3
CARD11
CARMIL2
CASQ2
CASR
CAST
CATIP
CBS
CC2D1A
CC2D2A
CCBE1
CCDC103
CCDC114
CCDC174
CCDC32
CCDC39
CCDC40
CCDC65
CCDC88C
CCM2
CCN6
CCNO
CD55
CD59
CDAN1
CDC14A
CDH2
CDH23
CDH3
CDHR1
CDK10
CDK5
CDKN2A
CDON
CDSN
CEACAM16
CENPF
CENPJ
CEP104
CEP120
CEP135
CEP152
CEP19
CEP250
CEP290
CEP295
CEP78
CERKL
CERS3
CFAP298
CFAP300
CFAP410
CFAP44
CFAP52
CFAP53
CFAP58
CFH
CFI
CFL2
CFTR
CHAT
CHD3
CHEK2
CHMP3
CHRNA1
CHRNB1
CHRND
CHRNE
CHST14
CHST3
CHST6
CIDEA
CIITA
CISD2
CIT
CLCN1
CLCN2
CLCN7
CLCNKB
CLDN1
CLDN14
CLMP
CLN3
CLN5
CLN6
CLN8
CLPP
CLRN1
CNGA1
CNGA3
CNGB1
CNGB3
CNNM4
CNTNAP1
CNTNAP2
COCH
COG6
COL11A2
COL12A1
COL17A1
COL18A1
COL4A3
COL4A4
COL4A5
COL6A1
COL6A2
COL7A1
COL9A3
COLEC10
COLEC11
COLQ
COQ4
COQ5
COQ8A
COQ8B
CORO1A
COX10
COX15
COX4I1
COX4I2
COX6B1
CPAMD8
CPLANE1
CPS1
CPT1A
CPT2
CRADD
CRB1
CRB2
CRLF1
CRPPA
CRTAP
CRYAA
CRYBB1
CRYBB3
CSTA
CSTB
CTNNA2
CTNS
CTSC
CTSF
CTSK
CTU2
CUBN
CUL7
CYB5R3
CYBA
CYP11A1
CYP11B1
CYP11B2
CYP17A1
CYP1B1
CYP21A2
CYP24A1
CYP27A1
CYP2U1
CYP4F22
CYP4V2
CYP7B1
D2HGDH
DAG1
DAND5
DAW1
DBR1
DBT
DCAF17
DCDC2
DCLRE1C
DCXR
DDB2
DDHD2
DDR2
DDRGK1
DDX11
DEAF1
DEGS1
deletion 16p13.3
deletion 21q22.11q22.12
deletion 9q24.2
DES
DGAT1
DGUOK
DHCR24
DHCR7
DHDDS
DHODH
DHX38
DIS3L2
DKC1
DLD
DLL3
DMPK
DMRTA2
DMXL2
DNAAF1
DNAAF3
DNAAF4
DNAAF5
DNAH11
DNAH5
DNAH6
DNAI1
DNAI2
DNAJA3
DNAJB2
DNAJC12
DNAJC6
DNAL1
DNM1
DNMT3B
DOCK7
DOCK8
DOK7
DOLK
DONSON
DPH1
DPM1
DPP9
DPYD
DRC1
DSE
DSG1
DSG4
DSP
DST
DSTYK
DTNBP1
DYNC2H1
DYSF
DZIP1L
ECEL1
ECHS1
ECM1
EDAR
EDNRB
EDRF1
EFHC1
EFL1
EHD1
EIF2B3
EIF2B5
EIF3E
EIF3F
ELANE
ELP1
EMC10
EMD
ENG
ENO3
ENPP1
ENTPD1
EOGT
EPCAM
EPG5
EPM2A
EPS8L2
ERBB3
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC6L2
ERCC8
ERGIC1
ESAM
ESCO2
ESPN
ESRRB
ETFB
ETFDH
ETHE1
ETV2
ETV6
EVC
EVC2
EXOC3L2
EXOSC1
EXOSC3
EXOSC8
EXPH5
EYS
F10
F11
F12
F13A1
F7
FA2H
FAH
FAM126A
FAM161A
FAM20A
FAM20C
FAM92A
FANCA
FANCC
FANCE
FANCF
FANCG
FANCI
FARS2
FASTKD2
FAT1
FBLN5
FBP1
FBXL3
FBXO7
FDX2
FDXR
FECH
FERMT1
FERMT3
FGB
FGD1
FGD4
FH
FIGNL1
FKBP10
FKBP14
FKRP
FKTN
FLG2
FLNC
FLT4
FLVCR2
FNIP1
FOXD2
FOXP3
FOXRED1
FRA10AC1
FREM1
FRMD4A
FRMD7
FTCD
FTO
FUCA1
FXN
FYB1
FYCO1
G6PC
G6PC3
G6PD
GAA
GALC
GALE
GALK1
GALNS
GALNT3
GALT
GAMT
GAN
GARS
GATC
GATM
GBA
GBE1
GCDH
GCH1
GCK
GCM2
GCNT2
GDAP1
GDAP2
GDF1
GFAP
GFI1B
GFM1
GFPT1
GGPS1
GH1
GHR
GHRH
GIF
GIMAP6
GIPC3
GJB2
GJB3
GJB6
GLB1
GLDC
GLDN
GLIS3
GLRA1
GLRB
GLS
GLYCTK
GMPPA
GMPPB
GNAT1
GNB3
GNB5
GNE
GNPAT
GNPTAB
GNPTG
GNRHR
GON7
GORAB
GOSR2
GP1BA
GP9
GPAA1
GPATCH11
GPC6
GPD1
GPR88
GPSM2
GPT2
GPX4
GREM1
GRID1
GRIN1
GRM6
GSS
GTPBP3
GUCY2C
GUCY2D
HACD1
HACE1
HADHA
HAO1
HARS1
HBA1
HBA2
HBB
HCN4
HERC1
HERC2
HEXA
HEXB
HFE
HFM1
HGD
HGSNAT
HIBCH
HIKESHI
HLCS
HMBS
HMGCL
HMGCR
HMGCS2
HOGA1
HPD
HPS3
HPS5
HPS6
HR
HSD11B2
HSD17B3
HSD17B4
HSD3B2
HSF2BP
HSPB1
HSPD1
HSPG2
HTRA1
HTRA2
HTT
HYDIN
IARS
IBA57
IDH3A
IDUA
IFNAR1
IFT140
IFT74
IGF1R
IGFALS
IGHMBP2
IKBKB
IL10RA
IL12RB1
IL1RN
IL21R
IL2RG
IL36RN
IL6R
IL7
IL7R
ILDR1
IMPG2
INPP4A
INPP5E
INPP5K
INPPL1
INSR
INTS1
INTU
INVS
IPO8
IQCB1
ISCA2
ITGA2B
ITGA3
ITGB2
ITGB3
ITGB4
ITK
IVD
JAGN1
JAK3
JAM3
KAT2A
KATNB1
KCNJ1
KCNJ11
KCNJ13
KCNK9
KCNV2
KCTD7
KDM5B
KIAA0556
KIAA0586
KIAA1109
KIF12
KIF1A
KIF1BP
KIF1C
KIF26A
KIF7
KIRREL1
KISS1R
KIZ
KLC2
KLHL3
KLHL40
KLHL7
KREMEN1
KRT1
KRT14
KRT16
KRT5
KRT86
KY
L2HGDH
LACC1
LAMA1
LAMA2
LAMA3
LAMB2
LAMB3
LAMC2
LAMC3
LAMP3
LARGE1
LARP7
LARS
LARS2
LCA5
LCK
LCP2
LDHD
LDLR
LGI1
LHFPL5
LIFR
LIG4
LIM2
LIPA
LIPE
LIPH
LIPN
LMAN1
LMF1
LMNB2
LMOD3
LONP1
LOXHD1
LOXL3
LPIN1
LPL
LRBA
LRIG2
LRMDA
LRP4
LRP5
LRPAP1
LRRC32
LRRC6
LRRK1
LRTOMT
LSM1
LSS
LTBP2
LTBP3
LTBP4
LZTR1
MADD
MAG
MAK
MALT1
MAN1B1
MAN2B1
MAP11
MAPKAPK5
MAPRE2
MAPT
MARS
MARVELD2
MASP1
MAT1A
MATN3
MBOAT7
MC4R
MCCC1
MCCC2
MCIDAS
MCM8
MCM9
MCOLN1
MCPH1
MECR
MED17
MED25
MED27
MEFV
MEGF10
MEGF8
MEIOB
MERTK
MESD
MFN2
MFRP
MFSD2A
MFSD8
MGAT2
MICAL3
MICU1
MKKS
MKS1
MLC1
MLH1
MLIP
MLPH
MMACHC
MME
MMP13
MMP21
MMP9
MMUT
MNS1
MOCOS
MOCS1
MOCS2
MPDU1
MPDZ
MPL
MPLKIP
MPV17
MPZ
MPZL2
MRAP
MRE11
MRPS16
MRPS22
MSH2
MSH6
MSTO1
MTHFR
MTMR2
MTNR1A
MT-RNR1
MTTP
MUSK
MUTYH
MVK
MYBPC1
MYBPC3
MYH2
MYLK
MYMK
MYO15A
MYO3A
MYO5B
MYO6
MYO7A
MYOC
MYORG
MYSM1
NADK2
NAGLU
NALCN
NARS2
NAXE
NBEAL2
NCAPD3
NCF1
NCF2
NDUFA10
NDUFA11
NDUFA6
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFB10
NDUFS2
NDUFS4
NDUFS6
NDUFS7
NEB
NECTIN1
NEFL
NEK1
NEU1
NEUROD1
NFASC
NFS1
NGLY1
NHEJ1
NHLRC1
NHLRC2
NIN
NIPAL4
NKX2-2
NKX2-6
NME3
NME7
NMNAT1
NNT
NOS1
not examined
NOTCH3
NPAS1
NPC1
NPHP1
NPHP4
NPHS1
NPHS2
NR0B1
NR2E3
NR5A1
NRAP
NRCAM
NRL
NT5C2
NTNG2
NTRK1
NUDT2
NUP107
NUP188
NUP214
NUP62
OAT
OCA2
ODAD3
OPA1
OPA3
OPTN
ORC6
OSGEP
OSTM1
OTOA
OTOF
OTOG
OTOGL
OTUD6B
OTULIN
P3H1
P3H2
PABPN1
PAGR1
PAH
PALB2
PAM16
PARP10
PARS2
PATL2
PAX3
PAX6
PAX7
PC
PCARE
PCCB
PCDH12
PCDH15
PCDH19
PCK1
PCNT
PCSK1
PCYT2
PDE10A
PDE6A
PDE6B
PDE6C
PDE6G
PDHX
PEPD
PET100
PEX1
PEX12
PEX16
PEX2
PEX26
PEX6
PEX7
PFKM
PGAM2
PGAP2
PGAP3
PGM1
PHACTR2
PHEX
PHGDH
PHKG2
PHYH
PI4KA
PIBF1
PIEZO1
PIGB
PIGC
PIGG
PIGH
PIGM
PIGN
PIGO
PIGT
PIGV
PIK3C2A
PIK3R1
PINK1
PIP5K1C
PITRM1
PJVK
PKD1L1
PKHD1
PKLR
PKP1
PKP2
PLA2G5
PLA2G6
PLAA
PLCB1
PLCE1
PLD1
PLEKHG2
PLEKHG5
PLEKHM2
PLG
PLOD2
PLVAP
PLXNA1
PLXND1
PMS2
PNKP
PNLIP
PNP
PNPLA1
PNPLA6
PNPO
PNPT1
POC1A
POC5
POLD1
POLG
POLR1C
POLR3A
POLR3E
POMGNT1
POMGNT2
POMT1
POMT2
POP1
POR
POT1
POU1F1
POU4F3
PPCS
PPIB
PPOX
PPP1R13L
PPT1
PRCD
PRDM12
PRDM13
PRDM5
PRF1
PRICKLE1
PRKN
PRLR
PRMT7
PRNP
PROC
PROM1
PROP1
PRORP
PRPH2
PRRT2
PRSS12
PRUNE1
PRX
PSENEN
PSMB10
PSMB8
PSMC1
PSMC3IP
PTPN23
PTPRF
PTPRQ
PTRH2
PTS
PUS1
PUS3
PXDN
PYCR1
PYCR2
PYGL
PYGM
PYROXD1
QARS
RAB27A
RAB28
RAB3GAP1
RAB3GAP2
RAD50
RAG1
RAG2
RALGAPA1
RAPSN
RARS2
RASA1
RASGRP1
RASGRP2
RBL2
RBM28
RBM7
RBP3
RCBTB1
RDH12
RDH5
RDX
RECQL
RECQL4
REEP2
REEP6
RET
RFC1
RFX5
RFX6
RGS9BP
RIN2
RIPK1
RLBP1
RMND1
RMRP
RNASEH2B
RNF212
RNF216
ROBO3
ROGDI
RORC
RP1
RP1L1
RPAIN
RPE65
RPGRIP1
RPGRIP1L
RRM2B
RSPH3
RSPH4A
RSPH9
RSPO4
RSRC1
RTEL1
RTN4IP1
RUSC2
RYR1
RYR2
S1PR2
SACS
SAG
SAMD7
SAMD9
SAMHD1
SARDH
SARS2
SART3
SBDS
SBF1
SCAPER
SCARB1
SCARB2
SCN1A
SCN4A
SCN8A
SCN9A
SCNN1A
SCNN1B
SCNN1G
SCUBE3
SCYL1
SDCCAG8
SDHA
SDHAF1
SDHD
SDR9C7
SEC23B
SEC31A
SECISBP2
SELENOI
SELENON
SENP7
SEPSECS
SERAC1
SERPINA12
SERPINA6
SERPINB7
SERPINB8
SERPINF1
SERPINH1
SFTPC
SGCA
SGCB
SGCG
SGPL1
SGSH
SGSM3
SH2D1A
SH3PXD2B
SI
SIGMAR1
SKIC3
SKIV2L
SLC10A1
SLC11A2
SLC12A1
SLC12A3
SLC13A5
SLC17A5
SLC18A3
SLC19A2
SLC19A3
SLC1A4
SLC22A12
SLC22A5
SLC24A1
SLC24A5
SLC25A1
SLC25A12
SLC25A13
SLC25A15
SLC25A19
SLC25A20
SLC25A21
SLC25A22
SLC25A36
SLC25A38
SLC25A46
SLC26A2
SLC26A3
SLC26A4
SLC27A4
SLC29A3
SLC2A10
SLC2A2
SLC2A9
SLC30A10
SLC30A2
SLC30A9
SLC31A1
SLC34A1
SLC34A3
SLC35A3
SLC35C1
SLC37A3
SLC37A4
SLC38A8
SLC39A12
SLC39A14
SLC39A4
SLC3A1
SLC44A1
SLC45A1
SLC45A2
SLC46A1
SLC4A10
SLC4A11
SLC4A4
SLC4A7
SLC52A2
SLC5A1
SLC5A2
SLC66A1
SLC6A19
SLC6A8
SLC6A9
SLC7A7
SLC7A9
SLURP1
SMARCAL1
SMARCD2
SMN1
SMPD1
SMPD4
SNAP29
SNF8
SNX10
SNX14
SOBP
SOD1
SORD
SP110
SPAG1
SPART
SPATA16
SPATA7
SPEG
SPG11
SPG7
SPIDR
SPINK5
SPTA1
SPTBN4
SRD5A2
SRD5A3
ST14
ST3GAL3
ST3GAL5
STAG3
STAR
STARD7
STAT1
STAT3
STAU2
STK36
STN1
STRA6
STRC
STT3A
STUB1
STXBP2
SUCLA2
SUMF1
SURF1
SYCE1
SYNE1
SYNE4
SYNJ1
SYT2
SZT2
TACO1
TAF2
TAF8
TALDO1
TAT
TAX1BP3
TBC1D23
TBC1D24
TBCB
TBCD
TBCE
TBCK
TBPL2
TBX19
TBXAS1
TCAP
TCIRG1
TCN2
TCTEX1D2
TCTN2
TCTN3
TDRD9
TECPR2
TECTA
TELO2
TERT
TEX14
TGDS
TGM1
THG1L
THOC6
THPO
THRB
TIE1
TIMM29
TIMM50
TJP2
TK2
TKT
TMC1
TMCO1
TMEM165
TMEM216
TMEM231
TMEM237
TMEM260
TMEM38B
TMEM67
TMEM70
TMPRSS3
TNFRSF11A
TNNI3
TNNT1
TOP3A
TOR1A
TOR1AIP1
TP53
TP53RK
TPM3
TPO
TPP1
TPP2
TRAK1
TRAPPC12
TRAPPC2L
TRAPPC6B
TRAPPC9
TREX1
TRIM2
TRIM32
TRIM33
TRIM37
TRIM63
TRIOBP
TRIP11
TRIT1
TRMT1
TRMT10A
TRMU
TRPM1
TRPM6
TRPV3
TSEN54
TSFM
TSHB
TSHR
TSPAN12
TSPEAR
TTC19
TTC21B
TTC25
TTC26
TTC7A
TTC8
TTLL5
TTN
TTR
TUFM
TULP1
TXNL4A
TYMP
TYR
TYRP1
UBA5
UBAP1L
UBE3B
UBR1
UFSP2
UGT1A1
UMPS
UNC13D
UNC80
UQCRQ
UROS
USH1C
USH1G
USH2A
USP26
VAC14
VAMP1
VARS
VARS2
VDR
VIPAS39
VPS11
VPS13A
VPS13B
VPS33A
VPS33B
VPS37A
VPS45
VPS53
VRK1
VSX2
VWA1
VWF
WBP4
WDFY3
WDR19
WDR34
WDR81
WFS1
WHRN
WLS
WNT4
WRAP53
WWOX
XDH
XPA
XPC
XRCC2
YARS1
ZAP70
ZBTB24
ZFYVE26
ZMYND10
ZNF142
ZNF335
ZNF341
ZNF408
ZNF469
ZNF750
X
Population
Ethnic Group
Disease
MIM Disease
Gene
OMIM Gene
Mutation (c)
Mutation (p)
No. of Chromosome Families
Carrier Frequency
Source
Franklin
varsome
Location
No Items Found
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