Source: BEFREE

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: 85358
Gene Symbol: SHANK3
SHANK3 		SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 1.000 definitive 1.000 38 0 2001 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.020 None 1.000 2 0 2005 2010
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		arylsulfatase A 0.448 0.923 1.1E-11
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.020 None 1.000 2 0 2009 2010
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3 		patatin like phospholipase domain containing 3 0.556 0.692 5.7E-08
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 1 2018 2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5662
Gene Symbol: PSD
PSD 		pleckstrin and Sec7 domain containing 0.626 0.654 0.90
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 50944
Gene Symbol: SHANK1
SHANK1 		SH3 and multiple ankyrin repeat domains 1 0.678 0.385 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		insulin like growth factor 1 0.318 0.885 0.27
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 23542
Gene Symbol: MAPK8IP2
MAPK8IP2 		mitogen-activated protein kinase 8 interacting protein 2 0.628 0.654 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2 		SH3 and multiple ankyrin repeat domains 2 0.663 0.385 8.4E-07
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1196
Gene Symbol: CLK2
CLK2 		CDC like kinase 2 0.691 0.462 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.010 None 1.000 1 0 2018 2018