Source: CLINVAR

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: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.120 None 1.000 0 8 2009 2013
Entrez Id: 355
Gene Symbol: FAS
FAS 		Fas cell surface death receptor 0.372 0.923 0.81
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.110 None 1.000 0 1 2012 2012
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 1.000 6 1 2005 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.130 None 1.000 0 1 2009 2020
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.120 None 1.000 0 1 2006 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 1.000 3 1 2010 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 1.000 1 3 2015 2015
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 1.000 4 1 2011 2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 1.000 4 1 2010 2017
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		retinoic acid induced 1 0.545 0.731 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 100533970
Gene Symbol: P2RX5-TAX1BP3
P2RX5-TAX1BP3 		P2RX5-TAX1BP3 readthrough (NMD candidate) 0.588 0.769
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 1.000 2 1 2011 2014
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 6
Entrez Id: 3799
Gene Symbol: KIF5B
KIF5B 		kinesin family member 5B 0.604 0.538 0.99
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		mediator complex subunit 13L 0.617 0.538 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57 		chromosome 12 open reading frame 57 0.641 0.500 5.2E-05
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1