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: 5075
Gene Symbol: PAX1
PAX1
paired box 1 0.593 0.654 0.70
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 4170
Gene Symbol: MCL1
MCL1
MCL1 apoptosis regulator, BCL2 family member 0.430 0.808 0.96
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 4964
Gene Symbol: OFC2
OFC2
orofacial cleft 2 0.931 0.115
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
5'-nucleotidase ecto 0.436 0.885 2.3E-11
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3240
Gene Symbol: HP
HP
haptoglobin 0.412 0.885 1.7E-05
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3161
Gene Symbol: HMMR
HMMR
hyaluronan mediated motility receptor 0.544 0.615 5.5E-21
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 253980
Gene Symbol: KCTD13
KCTD13
potassium channel tetramerization domain containing 13 0.821 0.154 9.2E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 25830
Gene Symbol: SULT4A1
SULT4A1
sulfotransferase family 4A member 1 0.700 0.346 0.97
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
Ras homolog, mTORC1 binding 0.631 0.577 0.98
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 29780
Gene Symbol: PARVB
PARVB
parvin beta 0.736 0.385 2.4E-13
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1398
Gene Symbol: CRK
CRK
CRK proto-oncogene, adaptor protein 0.394 0.923 0.96
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 8741
Gene Symbol: TNFSF13
TNFSF13
TNF superfamily member 13 0.499 0.769 0.82
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 100996763
Gene Symbol: NOTCH2NLB
NOTCH2NLB
notch 2 N-terminal like B 0.821 0.192
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 93183
Gene Symbol: PIGM
PIGM
phosphatidylinositol glycan anchor biosynthesis class M 0.695 0.346 5.4E-05
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 10859
Gene Symbol: LILRB1
LILRB1
leukocyte immunoglobulin like receptor B1 0.510 0.769 5.7E-14
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 388677
Gene Symbol: NOTCH2NLA
NOTCH2NLA
notch 2 N-terminal like A 0.821 0.192
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 11337
Gene Symbol: GABARAP
GABARAP
GABA type A receptor-associated protein 0.695 0.500 0.26
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8675
Gene Symbol: STX16
STX16
syntaxin 16 0.656 0.538 0.48
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 11198
Gene Symbol: SUPT16H
SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit 0.861 0.192 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 100996717
Gene Symbol: NOTCH2NLC
NOTCH2NLC
notch 2 N-terminal like C 0.780 0.192
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8635
Gene Symbol: RNASET2
RNASET2
ribonuclease T2 0.682 0.615 2.7E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.010 None 1.000 1 0 2019 2019