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Table S3. Candidate CD genes.
Candidates included in the input data set are not shown. Genes with cardiac or vascular phenotype
when mutated in mice are marked with pink and yellow shading, respectively.
No.
Entrez gene
Aliases
3
AKT3
ADR, ALDR1,
ALR2, AR,
MGC1804
PKBBETA,
PRKBB, RACBETA
DKFZP434N0250,
PKBG, PRKBG,
RAC-PK-gamma,
RAC-gamma, STK2
4
AP1B1
ADTB1, AP105A,
BAM22, CLAPB2
1
AKR1B1
2
AKT2
5
APH1B
6
BMX
7
CAV3
8
CTNNB1
9
DLL1
10
FGF7
11
FGR
12
FHL2
APH-1B,
DKFZp564D0372,
PRO1328, PSFL,
TAAV688
ETK, PSCTK2,
PSCTK3
LGMD1C,
MGC126100,
MGC126101,
MGC126129, VIP21, VIP21
Mouse deletion
phenotype (PubMed
ID)
aldo-keto reductase
No cardiac
family 1, member B1
developmental
(aldose reductase)
phenotype reported
v-akt murine thymoma No cardiac
viral oncogene homolog developmental
2
phenotype reported
Name (Entrez gene)
v-akt murine thymoma
viral oncogene homolog
3 (protein kinase B,
gamma)
adaptor-related protein
complex 1, beta 1
subunit
anterior pharynx
defective 1 homolog B
(C. elegans)
BMX non-receptor
tyrosine kinase
caveolin 3
No cardiac
developmental
phenotype reported
No mouse deletion
reported
No abnormal
phenotype reported
No abnormal
phenotype reported
No cardiac phenotype
Knock-out is
CTNNB,
embryonic lethal.
DKFZp686D02253, catenin (cadherinFloxed alleles have
FLJ25606,
associated protein), beta cardiac phenotype
FLJ37923
1, 88kDa
(11262227)
Cardiac phenotype
delta-like 1
reported. Looping
DELTA1, Delta
(Drosophila)
affected. (9109488)
fibroblast growth factor No cardiac
7 (keratinocyte growth developmental
HBGF-7, KGF
factor)
phenotype reported
FLJ43153,
Vascular phenotype MGC75096, SRC2, Gardner-Rasheed feline decreased
c-fgr, c-src2, p55c- sarcoma viral (v-fgr)
angiogenesis.
fgr, p58c-fgr
oncogene homolog
(8125254)
Normal cardiovascular
development
(11003643,
AAG11, DRAL,
four and a half LIM
11390345). Abnormal
SLIM3
domains 2
hypertrofic response.
Other references to
CHD (PubMed ID)
13
fms-related tyrosine
kinase 1 (vascular
endothelial growth
factor/vascular
permeability factor
receptor)
FLT1
FLT, VEGFR1
14
GRB2
ASH, EGFRBPGRB2, Grb3-3,
growth factor receptorMST084, MSTP084 bound protein 2
15
GSK3B
16
HCK
glycogen synthase
kinase 3 beta
RP5-836N17.3,
JTK9
hemopoietic cell kinase
17
HRAS
18
HSPB1
CTLO, HRAS1, Kras, N-ras, RASH1,
c-bas/has
CMT2F,
DKFZp586P1322,
HMN2B, HS.76067,
HSP27, HSP28,
Hsp25
19
INPP5D
MGC104855,
MGC142140,
MGC142142, SHIP,
SHIP1, SIP-145,
inositol polyphosphatehp51CN
5-phosphatase, 145kDa
20
INS
proinsulin
21
IRS1
HIRS-1
insulin
insulin receptor
substrate 1
22
JAG2
HJ2
jagged 2
23
24
MAP2K1
MAPK3
MEK1, MAPKK1,
MKK1, PRKMK1
ERK1, RK1,
HS44KDAP,
HUMKER1A,
MGC20180,
P44ERK1,
P44MAPK, PRKM3
Total failure of
embryonic mice to
develop blood vessels
and failure of blood
island formation in the
yolk sac (7596435)
No cardiac
developmental
phenotype reported
(PubMed 9865697)
Double outlet right
ventricle and
Ventricular septal
defect (18830417)
Vascular phenotype decreased
angiogenesis.
(8125254)
v-Ha-ras Harvey rat
sarcoma viral oncogene
homolog
No cardiac
developmental
phenotype reported
heat shock 27kDa
protein 1
No abnormal
phenotype reported
mitogen-activated
protein kinase kinase 1
No cardiac
developmental
phenotype reported
No cardiac
developmental
phenotype reported
Hypertension
(7969452)
No cardiac
developmental
phenotype reported
Vascular phenotype.
Abnormal
angiogenesis,abnormal
vascular endothelial
cell migration
(10209122).
mitogen-activated
protein kinase 3
No cardiac
developmental
phenotype reported
HRAS is involved in
Costello syndrome
(16170316), which
include hypertrophic
cardiomyopathy
MAP2K1 is involved
in CFC syndrome
(17704260), which
include CHD.
25
26
MAPK8
MAPK9
JNK1, JNK1A2,
JNK21B1/2,
PRKM8, SAPK1,
JNK,
JNK2, JNK2A,
JNK2ALPHA,
JNK2B,
JNK2BETA,
PRKM9,
p54aSAPK, JNK55,
mitogen-activated
protein kinase 8
mitogen-activated
protein kinase 9
mitogen-activated
protein kinase-activated
protein kinase 2
met proto-oncogene
(hepatocyte growth
factor receptor)
27
MAPKAPK2
28
MET
AUTS9, HGFR,
RCCP2
29
NCSTN
APH2, KIAA0253,
RP11-517F10.1
30
NOTCH3
CADASIL, CASIL
31
NOTCH4
DAQB-143M3.4,
FLJ16302, INT3,
MGC74442,
NOTCH3
32
NRAS
N-ras, NRAS1
Notch homolog 4
(Drosophila)
neuroblastoma RAS
viral (v-ras) oncogene
homolog
PDGFRB
CD140B, JTK12,
PDGF-R-beta,
PDGFR, PDGFR1
platelet-derived growth
factor receptor, beta
polypeptide
PIK3CA
MGC142161,
phosphoinositide-3MGC142163, PI3K, kinase, catalytic, alpha
p110-alpha
polypeptide
33
34
nicastrin
Notch homolog 3
(Drosophila)
Normal cardiac
development. But
increased
cardiomyocyte
apoptosis, cardiac
fibrosis, decreased
cardiac muscle
contractility, increased
response of heart to
induced stress
(9851932)
No cardiac dev.
phenotype reported.
decreased
susceptibility to
atherosclerosis
(9806643)
No cardiac dev.
phenotype reported.
Abnormal ischemic
response(10559880)
No cardiac dev.
phenotype reported.
Embryonic lethal.
Distended pericardial
sacs (12716934).
No cardiac dev.
phenotype reported.
Vascular phenotype.
pericardial edema,
abnormal vasculature,
decreased
angiogenesis,
abnormal anterior
cardinal vein
morphology, abnormal
artery morphology,
abnormal vein
morphology.
dilated heart,
distended pericardial
sacs (7878045)
Knock-out has
vascular phenotype.
Floxed mice have
cardiac dev.
Phenotype. abnormal
ventricular septum
morphology
(17499702)
Knock-out have
vascular phenotype
(10196176)
35
PLCB1
36
PLCG1
RP4-654A7.1,
FLJ45792, PI-PLC,
PLC-154, PLC-I
PLC-II, PLC1,
PLC148,
PLCgamma1
37
PLCG2
38
PSENEN
PEN-2, MDS033,
MSTP064, PEN2
39
PTGS2
COX-2, COX2,
PGG/HS, PGHS-2,
PHS-2, hCox-2
40
PTK2
41
42
phospholipase C, beta 1
(phosphoinositidespecific)
phospholipase C,
gamma 1
phospholipase C,
gamma 2
(phosphatidylinositolspecific)
presenilin enhancer 2
homolog (C. elegans)
prostaglandinendoperoxide synthase
2 (prostaglandin G/H
synthase and
cyclooxygenase)
PTK2 protein tyrosine
kinase 2
PTK2B
FADK, FAK,
FAK1, pp125FAK
PYK2, CADTK,
CAKB, FADK2,
FAK2, FRNK,
PKB, PTK, RAFTK
PTPN3
RP11-18A3.3,
DKFZp686N0569,
PTPH1
protein tyrosine
phosphatase, nonreceptor type 3
43
RB1
44
RGS13
45
SNX9
46
SOS2
47
SRC
48
TESK2
49
TOMM70A
OSRC, RB
RP11-92K2.1,
MGC17173
RP11-266C7.10,
MST155,
MSTP155, SDP1,
SH3PX1,
SH3PXD3A, WISP
No cardiac
developmental
phenotype reported
Postnatal lethality. No
publication (Lexicon
genetics)
cardiac fibrosis, patent
ductus arteriosus.
Vascular phenotype
(7477380).
abnormal cardiac
muscle morphology,
vascular phenotype.
(7566154). Floxed
mice have cardiac
muscle phenoytype.
No cardiac
PTK2B protein tyrosine developmental
kinase 2 beta
phenotype reported
retinoblastoma 1
(including
osteosarcoma)
regulator of G-protein
signaling 13
sorting nexin 9
son of sevenless
FLJ25596
homolog 2 (Drosophila)
v-src sarcoma (SchmidtRuppin A-2) viral
ASV, SRC1, c-SRC, oncogene homolog
p60-Src
(avian)
FLJ90470
No cardiac
developmental
phenotype reported
Embryonic lethal.
Vascular phenotype
(9096335)
testis-specific kinase 2
translocase of outer
mitochondrial
membrane 70 homolog
A
No mouse deletion
reported
No cardiac
developmental
phenotype reported for
knock-out. Floxed
mice have cardiac
muscle phenotype.
No mouse deletion
reported
No mouse deletion
reported
No abnormal
phenotype reported
No cardiac
developmental
phenotype reported
No mouse deletion
reported
No mouse deletion
reported