22q11.2 copy number variation syndrome

No Pathway Network information available for 22q11.2 copy number variation syndrome

Pathways in the 22q11.2 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	22q11.2 copy number variation syndrome	WikiPathways	ACTA2 ACTC1 AIFM3 ALDH1A2 ALDH4A1 ARVCF ASF1A BCL2 BMAL1 C22orf39 CBX5 CCDC188 CDC42 CDC45 CDH15 CHRD CLDN1 CLDN3 CLDN5 CLTCL1 COMT CRKL CUL3 CYP26A1 CYP26B1 CYP26C1 DEPDC5 DGCR2 DGCR5 DGCR6L DGCR8 DRD2 DROSHA EGFR EMC10 ESS2 FGF10 FGF8 FGFR1 FGFR2 FOXA2 FOXC1 FOXC2 GBX2 GLUD1 GNB1L GP1BA GP1BB GP5 GP9 GSC2 H4C1 HAND2 HDAC3 HES1 HIRA HIRIP3 KLHL22 KPNB1 KRT18P5 KRT18P62 LINC00896 LINC01637 LRRC74B LZTR1 MAG MALT1 MED15 MRPL40 NCOR1 NKX2-5 NPRL2 NPRL3 OAT P2RX6 PAK4 PAX3 PI4KA PITX2 PLK1 POLR2A PPP1CB PRKN PRODH RAF1 RAN RANBP1 RANGAP1 RBX1 RCC1 RELN RN7SL168P RN7SL812P RNU6-225P RNY1P9 RORC RTL10 RTN4 RTN4R SCARF2 SEPTIN11 SEPTIN5 SEPTIN8 SERPIND1 SHH SHOC2 SLC25A1 SLC2A4 SLC7A4 SLC9A3P2 SMPD4P1 SNAP29 SNORA77B SREBF1 SREBF2 SRF TANGO2 TBX1 THAP7 TNPO1 TP53 TRMT2A TSKS TSSK2 TUBA3GP TXNRD2 UFD1 VWF XPO1 ZDHHC8 ZNF74 (see all 131) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	POLR2A	RNA Polymerase II Subunit A	Protein Coding	1
2	PI4KA	Phosphatidylinositol 4-Kinase Alpha	Protein Coding	1
3	DGCR2	DiGeorge Syndrome Critical Region Gene 2	Protein Coding	1
4	CDC42	Cell Division Cycle 42	Protein Coding	1
5	RBX1	Ring-Box 1	Protein Coding	1
6	DEPDC5	DEP Domain Containing 5, GATOR1 Subcomplex Subunit	Protein Coding	1
7	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	1
8	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	1
9	SNAP29	Synaptosome Associated Protein 29	Protein Coding	1
10	SCARF2	Scavenger Receptor Class F Member 2	Protein Coding	1
11	CLDN1	Claudin 1	Protein Coding	1
12	ALDH1A2	Aldehyde Dehydrogenase 1 Family Member A2	Protein Coding	1
13	HDAC3	Histone Deacetylase 3	Protein Coding	1
14	ALDH4A1	Aldehyde Dehydrogenase 4 Family Member A1	Protein Coding	1
15	CUL3	Cullin 3	Protein Coding	1
16	H4C1	H4 Clustered Histone 1	Protein Coding	1
17	CDC45	Cell Division Cycle 45	Protein Coding	1
18	ESS2	Ess-2 Spliceosome Associated Protein	Protein Coding	1
19	LZTR1	Leucine Zipper Like Post Translational Regulator 1	Protein Coding	1
20	NPRL3	NPR3 Like, GATOR1 Complex Subunit	Protein Coding	1
21	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	1
22	XPO1	Exportin 1	Protein Coding	1
23	VWF	Von Willebrand Factor	Protein Coding	1
24	UFD1	Ubiquitin Recognition Factor In ER Associated Degradation 1	Protein Coding	1
25	TP53	Tumor Protein P53	Protein Coding	1
26	CLDN5	Claudin 5	Protein Coding	1
27	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	1
28	TBX1	T-Box Transcription Factor 1	Protein Coding	1
29	SRF	Serum Response Factor	Protein Coding	1
30	SREBF2	Sterol Regulatory Element Binding Transcription Factor 2	Protein Coding	1
31	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	1
32	SLC25A1	Solute Carrier Family 25 Member 1	Protein Coding	1
33	SLC2A4	Solute Carrier Family 2 Member 4	Protein Coding	1
34	RTN4R	Reticulon 4 Receptor	Protein Coding	1
35	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	1
36	RORC	RAR Related Orphan Receptor C	Protein Coding	1
37	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
38	RANGAP1	Ran GTPase Activating Protein 1	Protein Coding	1
39	RANBP1	RAN Binding Protein 1	Protein Coding	1
40	RAN	RAN, Member RAS Oncogene Family	Protein Coding	1
41	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	1
42	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
43	RTN4	Reticulon 4	Protein Coding	1
44	CYP26B1	Cytochrome P450 Family 26 Subfamily B Member 1	Protein Coding	1
45	RELN	Reelin	Protein Coding	1
46	PRODH	Proline Dehydrogenase 1	Protein Coding	1
47	SEPTIN11	Septin 11	Protein Coding	1
48	DGCR8	DGCR8 Microprocessor Complex Subunit	Protein Coding	1
49	SEPTIN5	Septin 5	Protein Coding	1
50	PLK1	Polo Like Kinase 1	Protein Coding	1
51	PITX2	Paired Like Homeodomain 2	Protein Coding	1
52	PAX3	Paired Box 3	Protein Coding	1
53	PRKN	Parkin RBR E3 Ubiquitin Protein Ligase	Protein Coding	1
54	OAT	Ornithine Aminotransferase	Protein Coding	1
55	ARVCF	ARVCF Delta Catenin Family Member	Protein Coding	1
56	MAG	Myelin Associated Glycoprotein	Protein Coding	1
57	BMAL1	Basic Helix-Loop-Helix ARNT Like 1	Protein Coding	1
58	KPNB1	Karyopherin Subunit Beta 1	Protein Coding	1
59	CYP26C1	Cytochrome P450 Family 26 Subfamily C Member 1	Protein Coding	1
60	HES1	Hes Family BHLH Transcription Factor 1	Protein Coding	1
61	FOXA2	Forkhead Box A2	Protein Coding	1
62	SERPIND1	Serpin Family D Member 1	Protein Coding	1
63	DROSHA	Drosha Ribonuclease III	Protein Coding	1
64	GP9	Glycoprotein IX Platelet	Protein Coding	1
65	GP1BB	Glycoprotein Ib Platelet Subunit Beta	Protein Coding	1
66	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	1
67	GLUD1	Glutamate Dehydrogenase 1	Protein Coding	1
68	GBX2	Gastrulation Brain Homeobox 2	Protein Coding	1
69	ASF1A	Anti-Silencing Function 1A Histone Chaperone	Protein Coding	1
70	CBX5	Chromobox 5	Protein Coding	1
71	FOXC2	Forkhead Box C2	Protein Coding	1
72	FOXC1	Forkhead Box C1	Protein Coding	1
73	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1
74	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	1
75	FGF10	Fibroblast Growth Factor 10	Protein Coding	1
76	FGF8	Fibroblast Growth Factor 8	Protein Coding	1
77	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
78	DRD2	Dopamine Receptor D2	Protein Coding	1
79	CYP26A1	Cytochrome P450 Family 26 Subfamily A Member 1	Protein Coding	1
80	NKX2-5	NK2 Homeobox 5	Protein Coding	1
81	CRKL	CRK Like Proto-Oncogene, Adaptor Protein	Protein Coding	1
82	CLDN3	Claudin 3	Protein Coding	1
83	COMT	Catechol-O-Methyltransferase	Protein Coding	1
84	MALT1	MALT1 Paracaspase	Protein Coding	1
85	NPRL2	NPR2 Like, GATOR1 Complex Subunit	Protein Coding	1
86	TXNRD2	Thioredoxin Reductase 2	Protein Coding	1
87	PAK4	P21 (RAC1) Activated Kinase 4	Protein Coding	1
88	CDH15	Cadherin 15	Protein Coding	1
89	AIFM3	AIF Family Member 3	Protein Coding	1
90	LINC00896	Long Intergenic Non-Protein Coding RNA 896	RNA Gene	1
91	P2RX6	Purinergic Receptor P2X 6	Protein Coding	1
92	CHRD	Chordin	Protein Coding	1
93	DGCR6L	DiGeorge Syndrome Critical Region Gene 6 Like	Protein Coding	1
94	KLHL22	Kelch Like Family Member 22	Protein Coding	1
95	HIRIP3	HIRA Interacting Protein 3	Protein Coding	1
96	SLC9A3P2	Solute Carrier Family 9 Member 3 Pseudogene 2	Pseudogene	1
97	TANGO2	Transport And Golgi Organization 2 Homolog	Protein Coding	1
98	C22orf39	Chromosome 22 Open Reading Frame 39	Protein Coding	1
99	RCC1	Regulator Of Chromosome Condensation 1	Protein Coding	1
100	SNORA77B	Small Nucleolar RNA, H/ACA Box 77B	RNA Gene	1
101	RN7SL168P	RNA, 7SL, Cytoplasmic 168, Pseudogene	Pseudogene	1
102	RNU6-225P	RNA, U6 Small Nuclear 225, Pseudogene	Pseudogene	1
103	RN7SL812P	RNA, 7SL, Cytoplasmic 812, Pseudogene	Pseudogene	1
104	LINC01637	Long Intergenic Non-Protein Coding RNA 1637	RNA Gene	1
105	RNY1P9	RNY1 Pseudogene 9	Pseudogene	1
106	CLTCL1	Clathrin Heavy Chain Like 1	Protein Coding	1
107	THAP7	THAP Domain Containing 7	Protein Coding	1
108	RTL10	Retrotransposon Gag Like 10	Protein Coding	1
109	ZNF74	Zinc Finger Protein 74	Protein Coding	1
110	HIRA	Histone Cell Cycle Regulator	Protein Coding	1
111	KRT18P5	Keratin 18 Pseudogene 5	Pseudogene	1
112	SLC7A4	Solute Carrier Family 7 Member 4	Protein Coding	1
113	MRPL40	Mitochondrial Ribosomal Protein L40	Protein Coding	1
114	TUBA3GP	Tubulin Alpha 3g Pseudogene	Pseudogene	1
115	SMPD4P1	Sphingomyelin Phosphodiesterase 4 Pseudogene 1	Pseudogene	1
116	TSKS	Testis Specific Serine Kinase Substrate	Protein Coding	1
117	PPP1CB	Protein Phosphatase 1 Catalytic Subunit Beta	Protein Coding	1
118	GNB1L	G Protein Subunit Beta 1 Like	Protein Coding	1
119	MED15	Mediator Complex Subunit 15	Protein Coding	1
120	LRRC74B	Leucine Rich Repeat Containing 74B	Protein Coding	1
121	CCDC188	Coiled-Coil Domain Containing 188	Protein Coding	1
122	TNPO1	Transportin 1	Protein Coding	1
123	ZDHHC8	ZDHHC Palmitoyltransferase 8	Protein Coding	1
124	GSC2	Goosecoid Homeobox 2	Protein Coding	1
125	EMC10	ER Membrane Protein Complex Subunit 10	Protein Coding	1
126	GP5	Glycoprotein V Platelet	Protein Coding	1
127	TRMT2A	TRNA Methyltransferase 2A	Protein Coding	1
128	DGCR5	DiGeorge Syndrome Critical Region Gene 5	RNA Gene	1
129	TSSK2	Testis Specific Serine Kinase 2	Protein Coding	1
130	SEPTIN8	Septin 8	Protein Coding	1
131	KRT18P62	Keratin 18 Pseudogene 62	Pseudogene	1

Disorders associated with 22q11.2 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Digeorge syndrome	Enrichment	ARVCF, COMT, GP1BB, HIRA, TBX1, UFD1	9.19
2	Lung cancer susceptibility 3	Enrichment	ACTA2, EGFR, FGF10, PRKN, TP53	6.84
3	Bernard-soulier syndrome	Enrichment	GP1BA, GP1BB, GP9	5.06
4	Gliosarcoma	Enrichment	EGFR, FGFR1, LZTR1, TP53	4.86
5	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, LZTR1, TP53	4.75
6	Epilepsy, familial focal, with variable foci 1	Enrichment	DEPDC5, NPRL2, NPRL3	4.52
7	Noonan syndrome 1	Enrichment	LZTR1, PPP1CB, RAF1, SHOC2	4.20
8	Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	Enrichment	FOXC1, PITX2	4.03
9	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	4.03
10	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	4.03
11	Noonan syndrome-like disorder with loose anagen hair	Enrichment	PPP1CB, SHOC2	4.03
12	Axenfeld-rieger syndrome	Enrichment	FOXC1, PITX2	4.03
13	Rasopathy	Enrichment	LZTR1, PPP1CB, RAF1, SHOC2	3.98
14	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10, FGFR2	3.56
15	Heparin cofactor ii deficiency	Enrichment	PI4KA, SERPIND1	3.56
16	Epilepsy with auditory features	Enrichment	DEPDC5, RELN	3.56
17	Noonan syndrome and noonan-related syndrome	Enrichment	LZTR1, RAF1, SHOC2	3.43
18	Microform holoprosencephaly	Enrichment	FGF8, FGFR1, SHH	3.35
19	Lobar holoprosencephaly	Enrichment	FGF8, FGFR1, SHH	3.35
20	Semilobar holoprosencephaly	Enrichment	FGF8, FGFR1, SHH	3.19
21	Rhabdomyosarcoma 2	Enrichment	PAX3, TP53	3.04
22	Holoprosencephaly	Enrichment	FGF8, FGFR1	3.04
23	Persistent truncus arteriosus	Enrichment	NKX2-5, TBX1	3.04
24	Thrombocytopenia	Enrichment	GP1BA, GP1BB, GP9, VWF	2.93
25	Conotruncal heart malformations	Enrichment	NKX2-5, TBX1	2.87
26	Holoprosencephaly 1	Enrichment	FGF8, FGFR1	2.87
27	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	GP1BA, GP1BB	2.87
28	Familial isolated dilated cardiomyopathy	Enrichment	ACTC1, HAND2, RAF1, TXNRD2	2.77
29	Squamous cell carcinoma, head and neck	Enrichment	EGFR, TP53	2.73
30	Pilomyxoid astrocytoma	Enrichment	FGFR1, RAF1	2.73
31	Glioma susceptibility 1	Enrichment	LZTR1, TP53	2.60
32	Schizophrenia	Enrichment	COMT, PRKN, RELN, RTN4R	2.60
33	Lung cancer	Enrichment	ACTA2, EGFR, PRKN	2.45
34	Meier-gorlin syndrome 1	Enrichment	CDC45, FGFR2	2.40
35	Peters-plus syndrome	Enrichment	FOXC1, PITX2	2.40
36	Autosomal dominant macrothrombocytopenia	Enrichment	GP1BA, GP1BB	2.40
37	Left ventricular noncompaction	Enrichment	ACTC1, NKX2-5, RAF1	2.34
38	Septooptic dysplasia	Enrichment	FGFR1, SHH	2.24
39	Lip and oral cavity carcinoma	Enrichment	EGFR, TP53	2.24
40	Anterior segment dysgenesis	Enrichment	FOXC1, PITX2	2.05
41	Septopreoptic holoprosencephaly	Enrichment	FGF8, SHH	2.05
42	Midline interhemispheric variant of holoprosencephaly	Enrichment	FGF8, SHH	2.05
43	Holoprosencephaly 3	Enrichment	SHH	2.02
44	Bernard-soulier syndrome, type a2, autosomal dominant	Enrichment	GP1BA	2.02
45	Craniofacial-deafness-hand syndrome	Enrichment	PAX3	2.02
46	Arthritis, sacroiliac	Enrichment	RELN	2.02
47	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	2.02
48	Osteoglophonic dysplasia	Enrichment	FGFR1	2.02
49	Atrial septal defect 7 with or without atrioventricular conduction defects	Enrichment	NKX2-5	2.02
50	Waardenburg syndrome, type 3	Enrichment	PAX3	2.02
51	Trigonocephaly 1	Enrichment	FGFR1	2.02
52	Velocardiofacial syndrome	Enrichment	TBX1	2.02
53	Axenfeld-rieger syndrome, type 1	Enrichment	PITX2	2.02
54	Hypertelorism and tetralogy of fallot	Enrichment	FOXC1	2.02
55	Von willebrand disease, type 1	Enrichment	VWF	2.02
56	Hypothyroidism, congenital, nongoitrous, 5	Enrichment	NKX2-5	2.02
57	Digeorge syndrome/velocardiofacial syndrome complex 2	Enrichment	DGCR2	2.02
58	Nonarteritic anterior ischemic optic neuropathy	Enrichment	GP1BA	2.02
59	Noonan syndrome 5	Enrichment	RAF1	2.02
60	Von willebrand disease, platelet-type	Enrichment	GP1BA	2.02
61	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	2.02
62	Intellectual developmental disorder, autosomal dominant 3	Enrichment	CDH15	2.02
63	Apert syndrome	Enrichment	FGFR2	2.02
64	Microphthalmia/coloboma 5	Enrichment	SHH	2.02
65	Mucoepithelial dysplasia, hereditary	Enrichment	SREBF1	2.02
66	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.02
67	Anterior segment dysgenesis 4	Enrichment	PITX2	2.02
68	Von willebrand disease, type 2	Enrichment	VWF	2.02
69	Pseudohypoaldosteronism, type iie	Enrichment	CUL3	2.02
70	Ring dermoid of cornea	Enrichment	PITX2	2.02
71	Leprosy 2	Enrichment	PRKN	2.02
72	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	2.02
73	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	2.02
74	Combined d-2- and l-2-hydroxyglutaric aciduria	Enrichment	SLC25A1	2.02
75	Van den ende-gupta syndrome	Enrichment	SCARF2	2.02
76	Developmental and epileptic encephalopathy 111	Enrichment	DEPDC5	2.02
77	Myasthenic syndrome, congenital, 23, presynaptic	Enrichment	SLC25A1	2.02
78	Bone marrow failure syndrome 5	Enrichment	TP53	2.02
79	Von willebrand disease, type 3	Enrichment	VWF	2.02
80	Papilloma of choroid plexus	Enrichment	TP53	2.02
81	Basal cell carcinoma 7	Enrichment	TP53	2.02
82	Anaplastic thyroid carcinoma	Enrichment	TP53	2.02
83	Ifap syndrome 2	Enrichment	SREBF1	2.02
84	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	2.02
85	Immunodeficiency 42	Enrichment	RORC	2.02
86	Diaphragmatic hernia 4, with cardiovascular defects	Enrichment	ALDH1A2	2.02
87	Hyperinsulinemic hypoglycemia, familial, 6	Enrichment	GLUD1	2.02
88	Noonan syndrome-like disorder with loose anagen hair 1	Enrichment	SHOC2	2.02
89	Glucocorticoid deficiency 5	Enrichment	TXNRD2	2.02
90	Leopard syndrome 2	Enrichment	RAF1	2.02
91	Tango2-related metabolic encephalopathy and arrythmias	Enrichment	TANGO2	2.02
92	Radiohumeral fusions with other skeletal and craniofacial anomalies	Enrichment	CYP26B1	2.02
93	Ventricular septal defect 3	Enrichment	NKX2-5	2.02
94	Focal facial dermal dysplasia 4	Enrichment	CYP26C1	2.02
95	2-hydroxyglutaric aciduria	Enrichment	SLC25A1	2.02
96	Immunodeficiency 12	Enrichment	MALT1	2.02
97	Synovitis	Enrichment	RELN	2.02
98	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	2.02
99	Ductal carcinoma in situ	Enrichment	TP53	2.02
100	Hypoplastic left heart syndrome 2	Enrichment	NKX2-5	2.02
101	Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	Enrichment	TANGO2	2.02
102	Hartsfield syndrome	Enrichment	FGFR1	2.02
103	Neurodevelopmental disorder with or without autism or seizures	Enrichment	CUL3	2.02
104	Spastic paraplegia 75, autosomal recessive	Enrichment	MAG	2.02
105	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.02
106	Meier-gorlin syndrome 7	Enrichment	CDC45	2.02
107	Noonan syndrome-like disorder with loose anagen hair 2	Enrichment	PPP1CB	2.02
108	Von willebrand's disease	Enrichment	VWF	2.02
109	Choroid disease	Enrichment	OAT	2.02
110	Lethal occipital encephalocele-skeletal dysplasia syndrome	Enrichment	CYP26B1	2.02
111	Spastic paraplegia 84, autosomal recessive	Enrichment	PI4KA	2.02
112	Trigonitis	Enrichment	RAF1	2.02
113	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.02
114	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.02
115	Bernard-soulier syndrome type a2	Enrichment	GP1BA	2.02
116	Congenital insensitivity to pain with severe intellectual disability	Enrichment	CLTCL1	2.02
117	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.02
118	Non-acquired combined pituitary hormone deficiency	Enrichment	FOXA2	2.02
119	Catechol-o-methyltransferase activity, variation in	Enrichment	COMT	2.02
120	Aortic arch interruption	Enrichment	NKX2-5	2.02
121	Choroid plexus cancer	Enrichment	TP53	2.02
122	Nocarh syndrome	Enrichment	CDC42	2.02
123	Atrial heart septal defect 7	Enrichment	NKX2-5	2.02
124	Infection-induced acute-onset axonal neuropathy	Enrichment	RCC1	2.02
125	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.02
126	Gastrointestinal defects and immunodeficiency syndrome 2	Enrichment	PI4KA	2.02
127	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	2.02
128	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	2.02
129	Interstitial lung disease specific to childhood	Enrichment	FGF10	2.02
130	Pi4ka-related disorder	Enrichment	PI4KA	2.02
131	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	2.02
132	Alobar holoprosencephaly	Enrichment	FGF8, SHH	1.94
133	Patent foramen ovale	Enrichment	ACTC1, NKX2-5	1.89
134	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGF8, FGFR1	1.89
135	Cafe-au-lait spots, multiple	Enrichment	LZTR1	1.72
136	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.72
137	Hyperprolinemia, type i	Enrichment	PRODH	1.72
138	Hyperprolinemia, type ii	Enrichment	ALDH4A1	1.72
139	Schizophrenia 4	Enrichment	PRODH	1.72
140	Pulmonary hypoplasia, primary	Enrichment	FGF10	1.72
141	Cervical cancer	Enrichment	TP53	1.72
142	Axenfeld-rieger syndrome, type 3	Enrichment	FOXC1	1.72
143	Parkinson disease 12	Enrichment	PRKN	1.72
144	Noonan syndrome 2	Enrichment	LZTR1	1.72
145	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.72
146	Nephronophthisis-like nephropathy 1	Enrichment	RANGAP1	1.72
147	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	Enrichment	CLDN1	1.72
148	Cardiomyopathy, dilated, 1r	Enrichment	ACTC1	1.72
149	Atrial fibrillation, familial, 1	Enrichment	PITX2	1.72
150	Chromosome 22q11.2 duplication syndrome	Enrichment	TBX1	1.72
151	Pseudohypoaldosteronism, type i, autosomal dominant	Enrichment	CUL3	1.72
152	Lymphedema-distichiasis syndrome	Enrichment	FOXC2	1.72
153	Aural atresia, congenital	Enrichment	FGFR2	1.72
154	Cardiomyopathy, familial hypertrophic, 11	Enrichment	ACTC1	1.72
155	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.72
156	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1	1.72
157	Solitary median maxillary central incisor	Enrichment	SHH	1.72
158	Schwannomatosis 2	Enrichment	LZTR1	1.72
159	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.72
160	Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities	Enrichment	PI4KA	1.72
161	Moyamoya disease 5	Enrichment	ACTA2	1.72
162	Lymphoma, hodgkin, classic	Enrichment	TP53	1.72
163	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	Enrichment	SNAP29	1.72
164	Epilepsy, familial focal, with variable foci 3	Enrichment	NPRL3	1.72
165	Atrial septal defect 5	Enrichment	ACTC1	1.72
166	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.72
167	Anterior segment dysgenesis 3	Enrichment	FOXC1	1.72
168	Tessadori-bicknell-van haaften neurodevelopmental syndrome 1	Enrichment	H4C1	1.72
169	Tessadori-bicknell-van haaften neurodevelopmental syndrome 2	Enrichment	H4C1	1.72
170	Neurodevelopmental disorder with dysmorphic facies and variable seizures	Enrichment	EMC10	1.72
171	Intravascular large b-cell lymphoma	Enrichment	BCL2	1.72
172	Split hand-foot malformation	Enrichment	FGFR2	1.72
173	Rosette-forming glioneuronal tumor	Enrichment	FGFR1	1.72
174	Pineoblastoma	Enrichment	DROSHA	1.72
175	Congenital fibrosarcoma	Enrichment	TP53	1.72
176	Li-fraumeni syndrome 1	Enrichment	TP53	1.72
177	Sarcoma	Enrichment	TP53	1.72
178	Noonan syndrome 10	Enrichment	LZTR1	1.72
179	Cervix carcinoma	Enrichment	TP53	1.72
180	Immune system disease	Enrichment	CDC42	1.72
181	Hodgkin's lymphoma	Enrichment	TP53	1.72
182	Familial isolated congenital asplenia	Enrichment	NKX2-5	1.72
183	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.72
184	Combined immunodeficiency-multiple intestinal atresia	Enrichment	PI4KA	1.72
185	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.72
186	Arthritis	Enrichment	RELN	1.72
187	Deletion 5q35	Enrichment	NKX2-5	1.72
188	Primary mediastinal large b-cell lymphoma	Enrichment	XPO1	1.72
189	Isolated radial hemimelia	Enrichment	SHH	1.72
190	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.72
191	Kallmann syndrome	Enrichment	FGF8, FGFR1	1.69
192	Cardiomyopathy, familial hypertrophic, 1	Enrichment	LZTR1, RAF1	1.65
193	Familial atrial fibrillation	Enrichment	NKX2-5, PITX2	1.65
194	Tetralogy of fallot	Enrichment	NKX2-5, TBX1	1.59
195	Crouzon syndrome	Enrichment	FGFR2	1.54
196	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.54
197	Pseudohypoaldosteronism, type iia	Enrichment	CUL3	1.54
198	Syndactyly, type iv	Enrichment	SHH	1.54
199	Periventricular nodular heterotopia 1	Enrichment	VWF	1.54
200	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	SREBF1	1.54
201	Nuchal bleb, familial	Enrichment	LZTR1	1.54
202	Osteogenic sarcoma	Enrichment	TP53	1.54
203	Nasopharyngeal carcinoma	Enrichment	TP53	1.54
204	Leukodystrophy, hypomyelinating, 2	Enrichment	SNAP29	1.54
205	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.54
206	Epilepsy, familial temporal lobe, 7	Enrichment	RELN	1.54
207	Epilepsy, familial focal, with variable foci 2	Enrichment	NPRL2	1.54
208	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.54
209	Tessadori-bicknell-van haaften neurodevelopmental syndrome 4	Enrichment	H4C1	1.54
210	Tessadori-bicknell-van haaften neurodevelopmental syndrome 3	Enrichment	H4C1	1.54
211	Gyrate atrophy of choroid and retina	Enrichment	OAT	1.54
212	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2	1.54
213	Polycystic kidney disease 4	Enrichment	SHOC2	1.54
214	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.54
215	Anaplastic astrocytoma	Enrichment	TP53	1.54
216	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	1.54
217	Kyphosis	Enrichment	RELN	1.54
218	Squamous cell carcinoma	Enrichment	TP53	1.54
219	Adenocarcinoma	Enrichment	TP53	1.54
220	Bone osteosarcoma	Enrichment	TP53	1.54
221	Schwannomatosis	Enrichment	LZTR1	1.54
222	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.54
223	Hereditary episodic ataxia	Enrichment	TANGO2	1.54
224	Bladder cancer	Enrichment	EGFR, TP53	1.50
225	Polydactyly, preaxial ii	Enrichment	SHH	1.42
226	Small cell cancer of the lung	Enrichment	TP53	1.42
227	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	LZTR1	1.42
228	Schizencephaly	Enrichment	SHH	1.42
229	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.42
230	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.42
231	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	CRKL	1.42
232	Saethre-chotzen syndrome	Enrichment	FGFR2	1.42
233	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Enrichment	POLR2A	1.42
234	Emery-dreifuss muscular dystrophy	Enrichment	LZTR1	1.42
235	Autosomal dominant nocturnal frontal lobe epilepsy	Enrichment	DEPDC5	1.42
236	Lung sarcomatoid carcinoma	Enrichment	TP53	1.42
237	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.42
238	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	1.42
239	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.42
240	Newborn respiratory distress syndrome	Enrichment	NPRL2	1.42
241	Episodic ataxia	Enrichment	TANGO2	1.42
242	Hereditary progressive cardiac conduction defect	Enrichment	NKX2-5	1.42
243	Full schwannomatosis	Enrichment	LZTR1	1.42
244	Complex hereditary spastic paraplegia	Enrichment	PRKN	1.42
245	Glioma	Enrichment	FGFR2	1.42
246	Familial hypertrophic cardiomyopathy	Enrichment	ACTC1, RAF1	1.40
247	Dilated cardiomyopathy	Enrichment	ACTC1, NKX2-5, RAF1	1.37
248	Hemifacial hyperplasia	Enrichment	FGFR2	1.32
249	Lymphoma, mucosa-associated lymphoid type	Enrichment	MALT1	1.32
250	Kbg syndrome	Enrichment	TBX1	1.32
251	Polycystic kidney disease 3 with or without polycystic liver disease	Enrichment	SHOC2	1.32
252	Parkinson disease 2, autosomal recessive juvenile	Enrichment	PRKN	1.32
253	Lissencephaly 2	Enrichment	RELN	1.32
254	Follicular lymphoma	Enrichment	BCL2	1.32
255	Lymphoma	Enrichment	TP53	1.32
256	Juvenile glaucoma	Enrichment	FOXC1	1.32
257	Parkin type of early-onset parkinson disease	Enrichment	PRKN	1.32
258	Acute megakaryocytic leukemia	Enrichment	TP53	1.32
259	Aniridia	Enrichment	FOXC1	1.32
260	Familial glucocorticoid deficiency	Enrichment	TXNRD2	1.32
261	Primary hypereosinophilic syndrome	Enrichment	FGFR1	1.32
262	Li-fraumeni syndrome	Enrichment	TP53	1.25
263	Dystonia 11, myoclonic	Enrichment	DRD2	1.25
264	Cowden syndrome 1	Enrichment	EGFR	1.25
265	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	GLUD1	1.25
266	Split-hand/foot malformation 1	Enrichment	FGFR2	1.25
267	Moyamoya disease 1	Enrichment	ACTA2	1.25
268	Pain disorder	Enrichment	OAT	1.25
269	Adrenocortical carcinoma	Enrichment	TP53	1.25
270	Double outlet right ventricle	Enrichment	NKX2-5	1.25
271	Breast adenocarcinoma	Enrichment	TP53	1.25
272	Lung squamous cell carcinoma	Enrichment	EGFR	1.25
273	Waardenburg syndrome	Enrichment	PAX3	1.25
274	Nonsyndromic genetic hyperinsulinism	Enrichment	GLUD1	1.25
275	Benign epilepsy with centrotemporal spikes	Enrichment	DEPDC5, RELN	1.23
276	Centralopathic epilepsy	Enrichment	DEPDC5, RELN	1.19
277	Gastric cancer	Enrichment	FGFR2, TP53	1.19
278	Esophageal cancer	Enrichment	TP53	1.18
279	Waardenburg syndrome, type 1	Enrichment	PAX3	1.18
280	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-5	1.18
281	Noonan syndrome 3	Enrichment	RAF1	1.18
282	Essential thrombocythemia	Enrichment	TP53	1.18
283	Gallbladder cancer	Enrichment	TP53	1.18
284	Autosomal dominant sleep-related hypermotor epilepsy	Enrichment	DEPDC5	1.18
285	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.18
286	Ovarian cancer	Enrichment	EGFR, PRKN, TP53	1.13
287	Melanocytic nevus syndrome, congenital	Enrichment	RAF1	1.13
288	Polycystic kidney disease 4 with or without polycystic liver disease	Enrichment	SHOC2	1.13
289	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.13
290	Hypoplastic left heart syndrome	Enrichment	NKX2-5	1.13
291	Combined pituitary hormone deficiency	Enrichment	FOXA2	1.13
292	Orofacial cleft 1	Enrichment	FGF10	1.08
293	Adult hepatocellular carcinoma	Enrichment	TP53	1.08
294	Bilateral perisylvian polymicrogyria	Enrichment	PI4KA	1.08
295	Hypogonadotropic hypogonadism	Enrichment	FGFR1	1.08
296	Primary hyperaldosteronism	Enrichment	TP53	1.08
297	Leukemia, chronic lymphocytic	Enrichment	TP53	1.03
298	Familial colorectal cancer	Enrichment	TP53	1.03
299	Hereditary breast ovarian cancer syndrome	Enrichment	DROSHA, TP53	1.01
300	Pectus excavatum	Enrichment	SHOC2	0.99
301	Meningioma, familial	Enrichment	LZTR1	0.99
302	Myelodysplastic syndrome	Enrichment	TP53	0.99
303	Combined immunodeficiency	Enrichment	MALT1	0.99
304	Atrial heart septal defect	Enrichment	NKX2-5	0.99
305	Lung non-small cell carcinoma	Enrichment	EGFR	0.99
306	Combined t cell and b cell immunodeficiency	Enrichment	MALT1	0.99
307	Interatrial communication	Enrichment	NKX2-5	0.99
308	Combined t and b cell immunodeficiency	Enrichment	MALT1	0.99
309	Presynaptic congenital myasthenic syndromes	Enrichment	SLC25A1	0.99
310	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8, LZTR1	0.99
311	Early-onset parkinson's disease	Enrichment	PRKN	0.96
312	Aortic valve disease 1	Enrichment	NKX2-5	0.93
313	Nk-cell enteropathy	Enrichment	CUL3	0.93
314	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	0.90
315	Heart disease	Enrichment	NKX2-5	0.90
316	Inherited cancer-predisposing syndrome	Enrichment	EGFR, LZTR1, TP53	0.87
317	Hydrocephalus	Enrichment	FGFR2	0.87
318	Rhabdomyosarcoma	Enrichment	TP53	0.84
319	Dandy-walker syndrome	Enrichment	PPP1CB	0.82
320	Sudden infant death syndrome	Enrichment	DEPDC5	0.82
321	Autism	Enrichment	PRKN, SHH	0.81
322	Arteriovenous malformations of the brain	Enrichment	EGFR	0.77
323	Diffuse large b-cell lymphoma	Enrichment	TP53	0.77
324	Parkinson's disease	Enrichment	PRKN	0.77
325	Macs syndrome	Enrichment	SHH	0.75
326	Craniosynostosis	Enrichment	FGFR2	0.75
327	Cardiomyopathy, dilated, 1a	Enrichment	HAND2	0.73
328	Endometrial cancer	Enrichment	FGFR2	0.73
329	Lissencephaly	Enrichment	RELN	0.73
330	Hepatoblastoma	Enrichment	TP53	0.73
331	Hepatocellular carcinoma	Enrichment	TP53	0.72
332	Tooth agenesis	Enrichment	FGFR1	0.72
333	Diamond-blackfan anemia 1	Enrichment	TP53	0.70
334	Colorectal cancer	Enrichment	FGFR2, TP53	0.69
335	Parkinson disease, late-onset	Enrichment	PRKN	0.68
336	Scoliosis	Enrichment	RELN	0.68
337	Pancreatic cancer	Enrichment	TP53	0.67
338	Hydrops fetalis, nonimmune	Enrichment	FOXC2	0.65
339	Hirschsprung disease 1	Enrichment	SREBF1	0.61
340	Prostate cancer	Enrichment	TP53	0.61
341	Non-immune hydrops fetalis	Enrichment	FOXC2	0.58
342	Connective tissue disease	Enrichment	ACTA2	0.57
343	Severe combined immunodeficiency	Enrichment	MALT1	0.56
344	Cakut	Enrichment	FOXC1	0.55
345	Autism spectrum disorder	Enrichment	CUL3, PRKN	0.55
346	Diamond-blackfan anemia	Enrichment	TP53	0.53
347	Leukemia, acute myeloid	Enrichment	TP53	0.49
348	Epilepsy	Enrichment	DEPDC5	0.49
349	Type 2 diabetes mellitus	Enrichment	SLC2A4	0.47
350	Distal arthrogryposis	Enrichment	ACTC1	0.47
351	Bardet-biedl syndrome	Enrichment	COMT	0.47
352	Complex neurodevelopmental disorder	Enrichment	CUL3, EMC10	0.47
353	Hypertrophic cardiomyopathy	Enrichment	ACTC1	0.47
354	Optic atrophy plus syndrome	Enrichment	OAT	0.46
355	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2	0.46
356	Hereditary breast carcinoma	Enrichment	TP53	0.46
357	Autosomal dominant non-syndromic intellectual disability	Enrichment	CDH15	0.41
358	Hypertelorism	Enrichment	FGFR2	0.40
359	Myeloma, multiple	Enrichment	TP53	0.38
360	Breast cancer	Enrichment	TP53	0.29
361	Rare genetic deafness	Enrichment	PAX3	0.27
362	Hereditary retinal dystrophy	Enrichment	OAT	0.03
363	Fundus dystrophy	Enrichment	OAT	0.03

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

22q11.2 copy number variation syndrome

Pathway Network for 22q11.2 copy number variation syndrome

Member Pathways for 22q11.2 copy number variation syndrome

Pathways in the 22q11.2 copy number variation syndrome SuperPath

Associated Genes for 22q11.2 copy number variation syndrome

Associated Disorders for 22q11.2 copy number variation syndrome

Disorders associated with 22q11.2 copy number variation syndrome SuperPath

STRING Interaction Network for 22q11.2 copy number variation syndrome

Sources for 22q11.2 copy number variation syndrome