Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
extracellular matrix protein 1 0.576 0.731 4.7E-14
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.020 None 1.000 2 0 2011 2015
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.020 None 1.000 2 0 2011 2011
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.020 None 1.000 2 0 2007 2010
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
nuclear factor I A 0.599 0.808 1.00
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.020 None 1.000 1 0 2007 2010
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
centrosomal protein 83 0.839 0.077 4.3E-14
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6232
Gene Symbol: RPS27
RPS27
ribosomal protein S27 0.578 0.769 0.76
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6271
Gene Symbol: S100A1
S100A1
S100 calcium binding protein A1 0.421 0.846 6.0E-03
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 1990 1990
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6285
Gene Symbol: S100B
S100B
S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 1990 1990
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
solute carrier family 16 member 2 0.592 0.577 0.99
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 839
Gene Symbol: CASP6
CASP6
caspase 6 0.610 0.615 1.3E-04
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
nuclear receptor subfamily 1 group H member 2 0.533 0.769 0.38
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 1 2000 2000
Entrez Id: 7272
Gene Symbol: TTK
TTK
TTK protein kinase 0.555 0.731 1.3E-03
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
NK2 homeobox 1 0.457 0.808 0.36
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None < 0.001 1 0 2009 2009
Entrez Id: 4311
Gene Symbol: MME
MME
membrane metalloendopeptidase 0.407 0.808 1.5E-18
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
myocyte enhancer factor 2C 0.517 0.769 1.7E-02
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2571
Gene Symbol: GAD1
GAD1
glutamate decarboxylase 1 0.486 0.885 4.6E-02
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group 0.010 None 1.000 1 0 2017 2017