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01 Microcephaly [NCBI]


Gene


Gene Link Information
Gain
01
COHEN2 [NCBI] 0.000357173
SCKL3 [NCBI] 0.000357173
MCPH2 [NCBI] 0.000357173
MHAC [NCBI] 0.000357173
BWCNS [NCBI] 0.000357173
MCPH4 [NCBI] 0.000357173
SCKL2 [NCBI] 0.000357173
CLAM [NCBI] 0.000357173
MEHMO [NCBI] 0.000357173
ASPM [NCBI] 0.000342347
MCPH1 [NCBI] 0.0003134
MRX8 [NCBI] 0.000296439
ZEB2 [NCBI] 0.00013766
NBN [NCBI] 0.00011334
CDK5RAP2 [NCBI] 7.56042e-05
CENPJ [NCBI] 6.0708e-05
VPS13B [NCBI] 4.85471e-05
MYCN [NCBI] 3.06438e-05
PAFAH1B1 [NCBI] 2.91255e-05
ATR [NCBI] 2.76108e-05
SLC2A1 [NCBI] 2.56909e-05
MRE11A [NCBI] 2.51168e-05
RAB3GAP1 [NCBI] 2.42544e-05
SNX3 [NCBI] 2.42544e-05
DPM1 [NCBI] 2.32374e-05
NR2E1 [NCBI] 2.18252e-05
SLC25A19 [NCBI] 2.18252e-05
DKC1 [NCBI] 2.15313e-05
PCNT [NCBI] 2.12919e-05
SHH [NCBI] 2.09872e-05
ALG3 [NCBI] 2.08309e-05
PQBP1 [NCBI] 2.04248e-05
NHEJ1 [NCBI] 1.9734e-05
DNM1L [NCBI] 1.94348e-05
RAD50 [NCBI] 1.91554e-05
AKT3 [NCBI] 1.62912e-05
TGIF1 [NCBI] 1.56671e-05
C4orf31 [NCBI] 1.45026e-05
MED13L [NCBI] 1.45026e-05
ATRX [NCBI] 1.38093e-05
MECP2 [NCBI] 1.30035e-05
EOMES [NCBI] 1.21224e-05
SNRPN [NCBI] 1.15625e-05
RELN [NCBI] 1.13438e-05
SLC9A6 [NCBI] 1.12243e-05
GFM1 [NCBI] 1.12243e-05
PAX5 [NCBI] 1.10647e-05
COG7 [NCBI] 1.06412e-05
PHGDH [NCBI] 1.06412e-05
GCHFR [NCBI] 1.02077e-05
CASK [NCBI] 1.02077e-05
TBX4 [NCBI] 1.02077e-05
MRAP [NCBI] 9.57509e-06
POMT2 [NCBI] 9.57509e-06
SUOX [NCBI] 9.32931e-06
DAG1 [NCBI] 9.14331e-06
DLX6 [NCBI] 9.11447e-06
DYM [NCBI] 8.75201e-06
FOXG1 [NCBI] 8.75201e-06
RFC2 [NCBI] 8.59606e-06
CHRND [NCBI] 8.59606e-06
PAX6 [NCBI] 8.49262e-06
IGFALS [NCBI] 8.45316e-06
DLD [NCBI] 8.45316e-06
SHFM1 [NCBI] 8.45316e-06
SMARCA1 [NCBI] 8.19892e-06
ARSE [NCBI] 8.08472e-06
CDC45L [NCBI] 7.9777e-06
SMARCAL1 [NCBI] 7.877e-06
NDEL1 [NCBI] 7.877e-06
TREX1 [NCBI] 7.877e-06
LAMB2 [NCBI] 7.877e-06
DLX5 [NCBI] 7.69186e-06
TDP1 [NCBI] 7.37288e-06
EDAR [NCBI] 7.30168e-06
ZIC2 [NCBI] 7.30168e-06
TCF4 [NCBI] 7.16765e-06
CNTN2 [NCBI] 7.1044e-06
DYRK1A [NCBI] 7.04343e-06
ABCD3 [NCBI] 6.87265e-06
CHEK1 [NCBI] 6.74241e-06
SIX3 [NCBI] 6.71753e-06
SLC1A3 [NCBI] 6.53062e-06
ACTN4 [NCBI] 6.06912e-06
FOXL2 [NCBI] 5.97113e-06
DCLRE1C [NCBI] 5.87854e-06
APTX [NCBI] 5.87854e-06
ARX [NCBI] 5.70744e-06
NDP [NCBI] 5.50355e-06
FOXC1 [NCBI] 5.45625e-06
ZBTB16 [NCBI] 5.25862e-06
ERCC6 [NCBI] 4.77719e-06
VIP [NCBI] 4.75758e-06
CDC25A [NCBI] 4.34515e-06
MTRR [NCBI] 4.19797e-06
TWIST1 [NCBI] 4.16584e-06
ATP7A [NCBI] 4.13434e-06
RPA1 [NCBI] 4.0336e-06
SRY [NCBI] 3.79811e-06
IGFBP3 [NCBI] 3.25622e-06
XRCC5 [NCBI] 2.94138e-06
PRKDC [NCBI] 2.78624e-06
BTK [NCBI] 2.76902e-06
PAH [NCBI] 2.76902e-06
H2AFX [NCBI] 2.68991e-06
TF [NCBI] 2.55467e-06
IGF1 [NCBI] 2.43458e-06
CHAT [NCBI] 1.93346e-06
VHL [NCBI] 1.78213e-06
BACE1 [NCBI] 1.78213e-06
CXCL12 [NCBI] 1.57036e-06
BRCA1 [NCBI] 1.37645e-06
ACHE [NCBI] 9.6743e-07
AR [NCBI] 3.83944e-07
GFAP [NCBI] 3.83115e-07
AFP [NCBI] 3.08398e-07




OMIM


OMIM Link Information
gain
01
lymphedema, microcephaly, chorioretinopathy syndrome [NCBI] 0.00932023
microcephaly, autosomal dominant [NCBI] 0.00790438
dubowitz syndrome [NCBI] 0.00743
microcephalic osteodysplastic primordial dwarfism, type i [NCBI] 0.00629668
NLS [NCBI] 0.00511521
microcephalic osteodysplastic primordial dwarfism, type ii [NCBI] 0.00406023
syndactyly, type i, with microcephaly and mental retardation [NCBI] 0.00348317
microcephaly with chorioretinopathy, autosomal recessive [NCBI] 0.00327404
microcephaly, hiatus hernia, and nephrotic syndrome [NCBI] 0.00231165
BWCNS [NCBI] 0.00222611
microcephalic osteodysplastic primordial dwarfism, type iii [NCBI] 0.00202147
epiphyseal dysplasia, microcephaly, and nystagmus [NCBI] 0.00202147
MCPH1 [NCBI] 0.0016925
MEHMO [NCBI] 0.00160996
basal ganglia calcification, idiopathic, childhood-onset [NCBI] 0.00150047
nijmegen breakage syndrome [NCBI] 0.00102461
pontocerebellar hypoplasia, type 2 [NCBI] 0.0010086
adducted thumbs syndrome [NCBI] 0.0010086
MHAC [NCBI] 0.0010086
MCPH5 [NCBI] 0.0008888
PCD [NCBI] 0.000848794
COH1 [NCBI] 0.000731108
SLE [NCBI] 0.000700503
MCPH2 [NCBI] 0.000652643
aphalangia, partial, with syndactyly and duplication of metatarsal iv [NCBI] 0.000652643
SCKL3 [NCBI] 0.000652643
microcephaly-micromelia syndrome [NCBI] 0.000652643
MCPH4 [NCBI] 0.000652643
SCKL2 [NCBI] 0.000652643
polycystic kidney disease, potter type i, with microbrachycephaly, hypertelorism, and brachymelia [NCBI] 0.000652643
feingold syndrome [NCBI] 0.000636475
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia [NCBI] 0.000613881
SLOS [NCBI] 0.000604941
HHS [NCBI] 0.000556107
MCPH1 [NCBI] 0.000547781
mowat-wilson syndrome [NCBI] 0.000543154
chorioretinal dysplasia-microcephaly-mental retardation syndrome [NCBI] 0.000532756
seckel syndrome 1 [NCBI] 0.000510911
MCOPS1 [NCBI] 0.00050859
oculopalatocerebral syndrome [NCBI] 0.00043717
phenylketonuria [NCBI] 0.000406562
AGS1 [NCBI] 0.000405957
microcephaly with spastic quadriplegia [NCBI] 0.000358262
kaufman oculocerebrofacial syndrome [NCBI] 0.00035739
cerebellar atrophy with progressive microcephaly [NCBI] 0.00035739
MVA [NCBI] 0.000347835
ASPM [NCBI] 0.00033425
jejunal atresia with microcephaly and ocular anomalies [NCBI] 0.000314505
genitopatellar syndrome [NCBI] 0.000306453
acromial dimples [NCBI] 0.000306453
bullous dystrophy, hereditary macular type [NCBI] 0.000306453
hypertelorism, microtia, facial clefting syndrome [NCBI] 0.000306453
COFS1 [NCBI] 0.000283506
goldberg-shprintzen megacolon syndrome [NCBI] 0.000277707
WHS [NCBI] 0.000277125
chromosome 10q deletion syndrome [NCBI] 0.000269215
ZEB2 [NCBI] 0.000266273
MCPH6 [NCBI] 0.000266183
microcephaly, corpus callosum dysgenesis, and cleft lip/palate [NCBI] 0.000266183
premature chromosome condensation with microcephaly and mental retardation [NCBI] 0.000266183
retinopathy, pigmentary, and mental retardation [NCBI] 0.000266183
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation [NCBI] 0.000266183
WARBM [NCBI] 0.000265377
PQBP1 [NCBI] 0.000258823
NBS1 [NCBI] 0.00023067
microcephaly with chemotactic defect and transient hypogammaglobulinemia [NCBI] 0.000229787
say syndrome [NCBI] 0.000229787
alopecia-epilepsy-oligophrenia syndrome of moynahan [NCBI] 0.000229787
branchial arch syndrome, x-linked [NCBI] 0.000229787
LGMD2K [NCBI] 0.000229787
RNS [NCBI] 0.00022553
SPG23 [NCBI] 0.000216207
CMDR [NCBI] 0.000216207
RNANC [NCBI] 0.000216207
peho syndrome [NCBI] 0.000216207
SHFM2 [NCBI] 0.000216207
phosphoglycerate dehydrogenase deficiency [NCBI] 0.000211769
POMT1 [NCBI] 0.000208993
popliteal pterygium syndrome, lethal type [NCBI] 0.000196159
COH1 [NCBI] 0.000194023
CENPJ [NCBI] 0.000194023
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome [NCBI] 0.000188962
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth [NCBI] 0.000178943
MCPHA [NCBI] 0.000177412
MCPH3 [NCBI] 0.000177412
microcephaly-cardiomyopathy [NCBI] 0.000177412
achalasia-microcephaly syndrome [NCBI] 0.000177412
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism [NCBI] 0.000177412
holoprosencephaly with fetal akinesia/hypokinesia sequence [NCBI] 0.000177412
RENS1 [NCBI] 0.00015302
cri-du-chat syndrome [NCBI] 0.00015302
AS [NCBI] 0.000151824
HPE2 [NCBI] 0.000149012
alopecia-contractures-dwarfism mental retardation syndrome [NCBI] 0.000146525
CDK5RAP2 [NCBI] 0.000144153
HSCR1 [NCBI] 0.000142222
gombo syndrome [NCBI] 0.000132603
MCOPS8 [NCBI] 0.000132603
RAB3GAP1 [NCBI] 0.000125178
SNX3 [NCBI] 0.000125178
hunter-mcalpine craniosynostosis syndrome [NCBI] 0.000123066
MRXHF1 [NCBI] 0.000117013
CDLS1 [NCBI] 0.000116589
cleft lip/palate with abnormal thumbs and microcephaly [NCBI] 0.000115775
ruvalcaba syndrome [NCBI] 0.000109864
MDLS [NCBI] 0.000101032
corpus callosum, agenesis of [NCBI] 0.000100607
martsolf syndrome [NCBI] 0.000100607
SLC1A3 [NCBI] 9.68115e-05
walker-warburg syndrome [NCBI] 9.47857e-05
ACC [NCBI] 9.45139e-05
de sanctis-cacchione syndrome [NCBI] 9.34777e-05
TRPS2 [NCBI] 9.25184e-05
XPA [NCBI] 9.03644e-05
progeroid facial appearance with hand anomalies [NCBI] 8.86843e-05
microcephaly-deafness syndrome [NCBI] 8.86843e-05
anonychia, total, with microcephaly [NCBI] 8.86843e-05
bifid nose [NCBI] 8.86843e-05
hall-riggs mental retardation syndrome [NCBI] 8.86843e-05
microcephaly with cervical spine fusion anomalies [NCBI] 8.86843e-05
macdermot-winter syndrome [NCBI] 8.86843e-05
microcephaly with digital anomalies [NCBI] 8.86843e-05
albinism-microcephaly-digital anomalies syndrome [NCBI] 8.86843e-05
cardiac malformation, cleft lip-palate, microcephaly and digital anomalies [NCBI] 8.86843e-05
cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness [NCBI] 8.86843e-05
brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay [NCBI] 8.86843e-05
HRX [NCBI] 8.86843e-05
retinal nonattachment and falciform detachment [NCBI] 8.86843e-05
spondyloepimetaphyseal dysplasia, genevieve type [NCBI] 8.86843e-05
hypogonadism with low-grade mental deficiency and microcephaly [NCBI] 8.86843e-05
microcephaly, facial abnormalities, micromelia, and mental retardation [NCBI] 8.86843e-05
dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation [NCBI] 8.86843e-05
spondyloepiphyseal dysplasia tarda with characteristic facies [NCBI] 8.86843e-05
microcephaly with simplified gyral pattern [NCBI] 8.86843e-05
schimke x-linked mental retardation syndrome [NCBI] 8.86843e-05
lambotte syndrome [NCBI] 8.86843e-05
spinal muscular atrophy with microcephaly and mental subnormality [NCBI] 8.86843e-05
microcephaly, severe, with skeletal anomalies including posterior rib-gap defects [NCBI] 8.86843e-05
spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal [NCBI] 8.86843e-05
microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs [NCBI] 8.86843e-05
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [NCBI] 8.86843e-05
marfanoid habitus with microcephaly and glomerulonephritis [NCBI] 8.86843e-05
SHFM3 [NCBI] 8.77518e-05
CSA [NCBI] 8.2695e-05
BPES [NCBI] 8.01446e-05
DKC1 [NCBI] 7.96482e-05
glucose transport defect, blood-brain barrier [NCBI] 7.86151e-05
ATR [NCBI] 7.76707e-05
MKS1 [NCBI] 7.69712e-05
MECP2 [NCBI] 7.56086e-05
BFLS [NCBI] 7.32417e-05
DNM1L [NCBI] 7.20285e-05
MRAP [NCBI] 7.20285e-05
IDH1 [NCBI] 7.20285e-05
NDE1 [NCBI] 7.20285e-05
THRAP2 [NCBI] 7.20285e-05
ARX [NCBI] 7.19968e-05
JBS [NCBI] 6.73151e-05
CDG1E [NCBI] 6.62799e-05
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [NCBI] 6.62799e-05
ataxia-microcephaly-cataract syndrome [NCBI] 6.62799e-05
plantar lipomatosis, unusual facies, and developmental delay [NCBI] 6.62799e-05
corpus callosum, agenesis of, with abnormal genitalia [NCBI] 6.62799e-05
craniosynostosis-microcephaly with chromosomal breakage and other abnormalities [NCBI] 6.62799e-05
triglyceride storage disease, type ii [NCBI] 6.62799e-05
trichodental dysplasia [NCBI] 6.62799e-05
encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia [NCBI] 6.62799e-05
tonoki syndrome [NCBI] 6.62799e-05
microcephaly and digital abnormalities with normal intelligence [NCBI] 6.62799e-05
microcephalic primordial dwarfism, toriello type [NCBI] 6.62799e-05
creases, infra-auricular cutaneous, with tall stature and advanced bone age [NCBI] 6.62799e-05
COXPD1 [NCBI] 6.62799e-05
encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration [NCBI] 6.62799e-05
mental retardation syndrome, mietens-weber type [NCBI] 6.62799e-05
ATRX [NCBI] 6.54838e-05
cayler cardiofacial syndrome [NCBI] 6.5349e-05
ATRX [NCBI] 6.12747e-05
CNTN2 [NCBI] 5.82548e-05
AKT3 [NCBI] 5.82548e-05
ALPI [NCBI] 5.82548e-05
EOMES [NCBI] 5.82548e-05
DTGA1 [NCBI] 5.7866e-05
paine syndrome [NCBI] 5.7866e-05
split-foot deformity with mandibulofacial dysostosis [NCBI] 5.7866e-05
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers [NCBI] 5.7866e-05
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [NCBI] 5.7866e-05
corpus callosum, partial agenesis of, x-linked [NCBI] 5.7866e-05
agonadism with multiple internal malformations [NCBI] 5.7866e-05
larsen-like syndrome, lethal type [NCBI] 5.7866e-05
alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism [NCBI] 5.7866e-05
mental retardation, buenos aires type [NCBI] 5.7866e-05
SLC25A19 [NCBI] 5.30604e-05
GFM1 [NCBI] 5.30604e-05
CDC25B [NCBI] 5.30604e-05
DPM1 [NCBI] 5.30604e-05
insulin-like growth factor i deficiency [NCBI] 5.2426e-05
arachnoid cysts, intracranial [NCBI] 5.2426e-05
CRS2 [NCBI] 5.2426e-05
cardiomyopathy, congestive, with hypergonadotropic hypogonadism [NCBI] 5.2426e-05
LIS2 [NCBI] 5.2426e-05
dyskeratosis congenita, autosomal recessive [NCBI] 5.2426e-05
CCNB1 [NCBI] 4.96897e-05
FAM20C [NCBI] 4.96897e-05
RAD50 [NCBI] 4.96897e-05
NHEJ1 [NCBI] 4.96897e-05
progeroid short stature with pigmented nevi [NCBI] 4.83983e-05
larynx, congenital partial atresia of [NCBI] 4.83983e-05
CDG1D [NCBI] 4.83983e-05
aprosencephaly syndrome [NCBI] 4.83983e-05
pyruvate decarboxylase deficiency [NCBI] 4.83838e-05
RCC1 [NCBI] 4.7185e-05
CHRND [NCBI] 4.7185e-05
ALG3 [NCBI] 4.7185e-05
c-like syndrome [NCBI] 4.52025e-05
fumarase deficiency [NCBI] 4.52025e-05
desmosterolosis [NCBI] 4.52025e-05
SHFM4 [NCBI] 4.52025e-05
polymicrogyria, bilateral frontoparietal [NCBI] 4.52025e-05
CDC25A [NCBI] 4.35329e-05
CCNA2 [NCBI] 4.35329e-05
BUB1B [NCBI] 4.35329e-05
cerebrofrontofacial syndrome [NCBI] 4.25563e-05
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type [NCBI] 4.25563e-05
CDC25C [NCBI] 4.2115e-05
radioulnar synostosis [NCBI] 4.03009e-05
adenylosuccinase deficiency [NCBI] 4.03009e-05
HPS2 [NCBI] 3.83375e-05
AP3B1 [NCBI] 3.70676e-05
growth-mental deficiency syndrome of myhre [NCBI] 3.66009e-05
DLD [NCBI] 3.56057e-05
F12 [NCBI] 3.56057e-05
LTC4S [NCBI] 3.56057e-05
MRE11A [NCBI] 3.56057e-05
ankyloblepharon-ectodermal defects-cleft lip/palate [NCBI] 3.50454e-05
HRD [NCBI] 3.50454e-05
CDC2 [NCBI] 3.49495e-05
SLC2A1 [NCBI] 3.43349e-05
WS3 [NCBI] 3.36379e-05
WSS [NCBI] 3.36379e-05
encephalopathy, neonatal severe, due to mecp2 mutations [NCBI] 3.36379e-05
ACCPN [NCBI] 3.23537e-05
adult syndrome [NCBI] 3.23537e-05
sialuria [NCBI] 3.23537e-05
potocki-shaffer syndrome [NCBI] 3.11738e-05
myoclonic epilepsy, neonatal, with suppression-burst pattern [NCBI] 3.11738e-05
XPC [NCBI] 2.96948e-05
CDG2C [NCBI] 2.907e-05
pitt syndrome [NCBI] 2.907e-05
alpha-thalassemia/mental retardation syndrome, deletion-type [NCBI] 2.907e-05
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis [NCBI] 2.81244e-05
heterotopia, periventricular, x-linked dominant [NCBI] 2.81244e-05
IGF1 [NCBI] 2.77081e-05
PDHA1 [NCBI] 2.74139e-05
septooptic dysplasia [NCBI] 2.72386e-05
sacral defect with anterior meningocele [NCBI] 2.72386e-05
AT [NCBI] 2.65302e-05
SMMCI [NCBI] 2.64058e-05
ESD [NCBI] 2.60662e-05
holoprosencephaly [NCBI] 2.55477e-05
FH [NCBI] 2.44549e-05
AFD1 [NCBI] 2.35052e-05
pyruvate carboxylase deficiency [NCBI] 2.35052e-05
EEC1 [NCBI] 2.34191e-05
AAA [NCBI] 2.28684e-05
MCOPS7 [NCBI] 1.82263e-05
SHFM1 [NCBI] 1.77994e-05
ODDD [NCBI] 1.69998e-05
CDK2 [NCBI] 1.66059e-05
ATM [NCBI] 1.62607e-05
charge syndrome [NCBI] 1.62479e-05
DKC [NCBI] 1.55421e-05
cardiofaciocutaneous syndrome [NCBI] 1.52051e-05
SCS [NCBI] 1.39514e-05
AOS [NCBI] 1.31918e-05
galactosemia [NCBI] 1.18178e-05
FMR1 [NCBI] 1.15671e-05
velocardiofacial syndrome [NCBI] 8.4317e-06
VIP [NCBI] 8.40496e-06
HP [NCBI] 7.16203e-06
TS [NCBI] 7.06153e-06
ALS1 [NCBI] 6.6696e-06
AVSD [NCBI] 6.2886e-06
menkes disease [NCBI] 6.04604e-06
TF [NCBI] 5.76809e-06
CHAT [NCBI] 2.45219e-06
HD [NCBI] 2.25962e-06
IP [NCBI] 2.06868e-06
kabuki syndrome [NCBI] 1.92134e-06
AFP [NCBI] 1.59258e-06
GFAP [NCBI] 1.14939e-06
FA [NCBI] 1.01454e-06
DGS [NCBI] 5.27297e-07
AR [NCBI] 3.47435e-07
WBS [NCBI] 2.38933e-07
PWS [NCBI] 4.48917e-08
ACHE [NCBI] 3.20047e-08
RTT [NCBI] 2.6099e-08




Database Center for Life Science