Human Gene Search Results

	Unique ID	Gene Symbol	Gene Name	Chromosome Loc	Genetic Category	Gene Ranking	Biallelic	# of Variants	Associated Disorders	# of Reports	Primary Reference	Display
	GEN003	ADORA2A	adenosine A2a receptor	22q11.23	Genetic association			2		7	Freitag CM , et al. 2009	Edit
	GEN005	ADSL	adenylosuccinate lyase	22q13.1	Rare Single Gene variant	2		10		9	Sivendran S , et al. 2004	Edit
	GEN1279	BRD1	bromodomain containing 1	22q13.33	Genetic association	3		11		6	Wilfert AB et al. 2021	Edit
	GEN488	CACNA1I	Calcium channel, voltage-dependent, T type, alpha 1I subunit	22q13.1	Genetic association	3		22		10	Lu AT , et al. 2012	Edit
	GEN1409	CACNG2	calcium voltage-gated channel auxiliary subunit gamma 2	22q12.3	Rare single gene variant/Functional	2		4		6	Rolland T et al. 2023	Edit
	GEN507	CECR2	CECR2, histone acetyl-lysine reader	22q11.1-q11.21	Rare single gene variant	2		8		3	Prasad A , et al. 2013	Edit
	GEN741	CHKB	Choline kinase beta	22q13.33	Syndromic	2	Yes	39		9	Haliloglu G , et al. 2015	Edit
	GEN349	CLTCL1	clathrin, heavy chain-like 1	22q11.21	Rare single gene variant	2	Yes	27		8	Chahrour MH , et al. 2012	Edit
	GEN996	CSNK1E	casein kinase 1 epsilon	22q13.1	Functional	3		7		8	De Rubeis S , et al. 2014	Edit
	GEN541	DEPDC5	DEP domain containing 5	22q12.2-q12.3	Syndromic	3		106		23	Dibbens LM , et al. 2013	Edit
	GEN308	EP300	E1A binding protein p300	22q13.2	Syndromic	4		55		26	Vaags AK , et al. 2012	Edit
	GEN304	GNB1L	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	22q11.21	Rare Single Gene variant	2		8		3	Chen YZ , et al. 2011	Edit
	GEN974	IL17RA	interleukin 17 receptor A	22q11.1	Rare single gene variant	2		5		6	Choi GB , et al. 2016	Edit
	GEN730	LZTR1	Leucine-zipper-like transcription regulator 1	22q11.21	Rare single gene variant	3		26		18	Krumm N , et al. 2015	Edit
	GEN418	MAPK1	Mitogen-activated protein kinase 1	22q11.22	Functional	2		11		5	Satoh Y , et al. 2011	Edit
	GEN691	MAPK12	mitogen-activated protein kinase 12	22q13.33	Rare single gene variant	0		3		2	Li J , et al. 2015	Edit
	GEN419	MAPK8IP2	Mitogen-activated protein kinase 8 interacting protein 2	22q13.33	Functional			0		1	Giza J , et al. 2010	Edit
	GEN1230	MYH9	myosin heavy chain 9	22q12.3	Rare single gene variant	4		62		8	Wang T et al. 2020	Edit
	GEN1212	NCAPH2	non-SMC condensin II complex subunit H2	22q13.33	Rare single gene variant	2		2		1	Luo Y et al. 2020	Edit
	GEN639	PRODH	Proline dehydrogenase (oxidase) 1	22q11.21	Syndromic			24		8	Afenjar A , et al. 2007	Edit
	GEN1378	PRR14L	proline rich 14 like	22q12.2	Rare single gene variant	3		5		5	C Yuen RK et al. 2017	Edit
	GEN734	PVALB	Parvalbumin	22q12.3	Functional			0		2	Whr M , et al. 2015	Edit
	GEN473	SBF1	SET binding factor 1	22q13.33	Rare Single Gene variant	3		12		11	O'Roak BJ , et al. 2012	Edit
	GEN475	SGSM3	Small G protein signaling modulator 3	22q13.1	Rare Single Gene variant	2		17		8	O'Roak BJ , et al. 2012	Edit
	GEN230	SHANK3	SH3 and multiple ankyrin repeat domains 3	22q13.33	Rare Single Gene variant	5		422		154	Durand CM , et al. 2006	Edit
	GEN564	SYN3	Synapsin III	22q12.3	Functional	2		6		5	Greco B , et al. 2013	Edit
	GEN286	TBX1	T-box 1	22q11.21	Syndromic	2		4		7	Paylor R , et al. 2006	Edit
	GEN633	TCF20	Transcription factor 20 (AR1)	22q13.2	Rare single gene variant	5		101		27	Babbs C , et al. 2014	Edit
	GEN653	TNRC6B	Trinucleotide repeat containing 6B	22q13.1	Rare single gene variant	4		59		19	Dong S , et al. 2014	Edit
	GEN561	TOP3B	Topoisomerase (DNA) III beta	22q11.22	Rare single gene variant	3		9		7	Xu D , et al. 2013	Edit
	GEN509	UPB1	beta-ureidopropionase 1	22q11.23	Rare single gene variant	2		4		4	Prasad A , et al. 2013	Edit
	GEN1188	XRCC6	X-ray repair cross complementing 6	22q13.2	Rare single gene variant	2		5		2	Sjaarda CP et al. 2020	Edit

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