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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.770 None 1.000 12 16 2009 2020
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.100 None 1.000 5 1 2012 2017
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
phosphoinositide-3-kinase regulatory subunit 2 0.551 0.808 1.6E-02
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.100 None 1.000 4 1 2012 2017
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.020 None 1.000 2 0 2017 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.020 None 1.000 2 0 2017 2020
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
methylmalonyl-CoA mutase 0.534 0.731 1.7E-22
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.020 None 1.000 2 0 2019 2019
Entrez Id: 55388
Gene Symbol: MCM10
MCM10
minichromosome maintenance 10 replication initiation factor 0.691 0.462 4.4E-15
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
Megalencephaly cutis marmorata telangiectatica congenita
disease 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
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
cell division cycle 45 0.588 0.692 4.6E-05
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 29126
Gene Symbol: CD274
CD274
CD274 molecule 0.324 0.923 1.9E-02
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 23476
Gene Symbol: BRD4
BRD4
bromodomain containing 4 0.446 0.885 1.00
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1234
Gene Symbol: CCR5
CCR5
C-C motif chemokine receptor 5 (gene/pseudogene) 0.398 0.885 4.3E-10
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
Megalencephaly cutis marmorata telangiectatica congenita
disease 0.010 None 1.000 1 0 2010 2010