Source: ALL

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: 4685
Gene Symbol: NCAM2
NCAM2
neural cell adhesion molecule 2 0.736 0.500 0.23
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 692236
Gene Symbol: SNORD116@
SNORD116@
small nucleolar RNA, C/D box 116 cluster 0.705 0.692
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2
RAS related 2 0.656 0.500 0.97
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 22983
Gene Symbol: MAST1
MAST1
microtubule associated serine/threonine kinase 1 0.711 0.385 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 23001
Gene Symbol: WDFY3
WDFY3
WD repeat and FYVE domain containing 3 0.711 0.423 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6788
Gene Symbol: STK3
STK3
serine/threonine kinase 3 0.666 0.500 6.2E-07
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6594
Gene Symbol: SMARCA1
SMARCA1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 0.504 0.808 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7179
Gene Symbol: TPTE
TPTE
transmembrane phosphatase with tensin homology 0.821 0.308 5.6E-24
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
colony stimulating factor 2 0.330 0.962 0.83
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 158038
Gene Symbol: LINGO2
LINGO2
leucine rich repeat and Ig domain containing 2 0.674 0.615 0.86
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 835
Gene Symbol: CASP2
CASP2
caspase 2 0.565 0.731 1.5E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
high mobility group AT-hook 2 0.429 0.808 0.87
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.480 0.846 0.92
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23399
Gene Symbol: CTDNEP1
CTDNEP1
CTD nuclear envelope phosphatase 1 1.000 0.115 0.97
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 54453
Gene Symbol: RIN2
RIN2
Ras and Rab interactor 2 0.623 0.692 8.1E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
laminin subunit gamma 2 0.389 0.923 2.9E-12
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51341
Gene Symbol: ZBTB7A
ZBTB7A
zinc finger and BTB domain containing 7A 0.564 0.769 0.96
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 50863
Gene Symbol: NTM
NTM
neurotrimin 0.644 0.577 5.8E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2015 2015