16p11.2 distal deletion syndrome

No Pathway Network information available for 16p11.2 distal deletion syndrome

Pathways in the 16p11.2 distal deletion syndrome SuperPath

#	Name	Source	Genes
1	16p11.2 distal deletion syndrome	WikiPathways	ATP2A1 ATP2A1-AS1 ATXN2L C3 CD19 CD81 CD82 CR2 GRB2 IFITM1 IL4 INSR JAK2 KDR MPL NFATC2 NFATC2IP PLN PRMT1 RAB4A RAB5A RABEP2 RABGEF1 SDCCAG8 SH2B1 SLN SPNS1 TRAF1 TRAF2 TUFM VAV2 (see all 31) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	1
2	CD81	CD81 Molecule	Protein Coding	1
3	CD19	CD19 Molecule	Protein Coding	1
4	IFITM1	Interferon Induced Transmembrane Protein 1	Protein Coding	1
5	SPNS1	SPNS Lysolipid Transporter 1, Lysophospholipid	Protein Coding	1
6	TUFM	Tu Translation Elongation Factor, Mitochondrial	Protein Coding	1
7	TRAF1	TNF Receptor Associated Factor 1	Protein Coding	1
8	C3	Complement C3	Protein Coding	1
9	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	1
10	PLN	Phospholamban	Protein Coding	1
11	ATP2A1	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1	Protein Coding	1
12	NFATC2	Nuclear Factor Of Activated T Cells 2	Protein Coding	1
13	MPL	MPL Proto-Oncogene, Thrombopoietin Receptor	Protein Coding	1
14	KDR	Kinase Insert Domain Receptor	Protein Coding	1
15	CD82	CD82 Molecule	Protein Coding	1
16	JAK2	Janus Kinase 2	Protein Coding	1
17	INSR	Insulin Receptor	Protein Coding	1
18	IL4	Interleukin 4	Protein Coding	1
19	SH2B1	SH2B Adaptor Protein 1	Protein Coding	1
20	CR2	Complement C3d Receptor 2	Protein Coding	1
21	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	1
22	NFATC2IP	Nuclear Factor Of Activated T Cells 2 Interacting Protein	Protein Coding	1
23	ATXN2L	Ataxin 2 Like	Protein Coding	1
24	RABEP2	Rabaptin, RAB GTPase Binding Effector Protein 2	Protein Coding	1
25	VAV2	Vav Guanine Nucleotide Exchange Factor 2	Protein Coding	1
26	TRAF2	TNF Receptor Associated Factor 2	Protein Coding	1
27	SLN	Sarcolipin	Protein Coding	1
28	PRMT1	Protein Arginine Methyltransferase 1	Protein Coding	1
29	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1
30	RABGEF1	RAB Guanine Nucleotide Exchange Factor 1	Protein Coding	1
31	ATP2A1-AS1	ATP2A1 Antisense RNA 1	RNA Gene	1

Disorders associated with 16p11.2 distal deletion syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Brody disease	Enrichment	ATP2A1, ATP2A1-AS1	5.30
2	Common variable immunodeficiency phenotype due to cd19/cd81 deficiency	Enrichment	CD19, CD81	5.30
3	Myelofibrosis	Enrichment	JAK2, MPL	3.98
4	Essential thrombocythemia	Enrichment	JAK2, MPL	3.98
5	Primary ovarian insufficiency	Enrichment	JAK2, KDR, SH2B1	3.49
6	Donohue syndrome	Enrichment	INSR	2.64
7	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	2.64
8	Thrombocythemia 2	Enrichment	MPL	2.64
9	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	2.64
10	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	2.64
11	Combined oxidative phosphorylation deficiency 4	Enrichment	TUFM	2.64
12	Hemolytic uremic syndrome, atypical 5	Enrichment	C3	2.64
13	Amegakaryocytic thrombocytopenia, congenital, 1	Enrichment	MPL	2.64
14	Immunodeficiency, common variable, 6	Enrichment	CD81	2.64
15	Immunodeficiency, common variable, 3	Enrichment	CD19	2.64
16	Macular degeneration, age-related, 9	Enrichment	C3	2.64
17	Complement component 3 deficiency, autosomal recessive	Enrichment	C3	2.64
18	Tufted angioma of skin	Enrichment	KDR	2.64
19	Complement component 3 deficiency	Enrichment	C3	2.64
20	Membranoproliferative glomerulonephritis	Enrichment	C3	2.64
21	Primary membranoproliferative glomerulonephritis	Enrichment	C3	2.64
22	Severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency	Enrichment	SH2B1	2.64
23	Immunodeficiency, common variable, 2	Enrichment	CR2	2.34
24	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	2.34
25	Cardiomyopathy, dilated, 1p	Enrichment	PLN	2.34
26	Chromosome 16p11.2 deletion syndrome, 220-kb	Enrichment	SH2B1	2.34
27	Angioma, tufted	Enrichment	KDR	2.34
28	Thrombocythemia 3	Enrichment	JAK2	2.34
29	Cardiomyopathy, familial hypertrophic, 18	Enrichment	PLN	2.34
30	Immunodeficiency, common variable, 7	Enrichment	CR2	2.34
31	Senior-loken syndrome 7	Enrichment	SDCCAG8	2.34
32	Chromosome 16p11.2 deletion syndrome, 593-kb	Enrichment	SH2B1	2.34
33	Bardet-biedl syndrome 16	Enrichment	SDCCAG8	2.34
34	Polycythemia	Enrichment	JAK2	2.34
35	Congenital amegakaryocytic thrombocytopenia	Enrichment	MPL	2.34
36	Joint contractures, osteochondromas, and b-cell lymphoma	Enrichment	NFATC2	2.34
37	Hypereosinophilic syndrome	Enrichment	JAK2	2.34
38	Polycythemia vera	Enrichment	JAK2	2.16
39	Systemic lupus erythematosus 9	Enrichment	CR2	2.16
40	Dyskeratosis congenita, autosomal dominant 6	Enrichment	MPL	2.16
41	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK2	2.16
42	Intrinsic cardiomyopathy	Enrichment	PLN	2.16
43	Genetic atypical hemolytic-uremic syndrome	Enrichment	C3	2.16
44	Erythrocytosis, familial, 1	Enrichment	JAK2	2.04
45	Budd-chiari syndrome	Enrichment	JAK2	2.04
46	Cardiac arrest	Enrichment	PLN	1.94
47	Myeloproliferative neoplasm	Enrichment	JAK2	1.94
48	Hemangioma, capillary infantile	Enrichment	KDR	1.87
49	46,xy disorder of sex development	Enrichment	INSR	1.87
50	Atypical hemolytic uremic syndrome with complement gene abnormality	Enrichment	C3	1.87
51	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	PLN	1.69
52	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	1.69
53	Cardiac conduction defect	Enrichment	PLN	1.57
54	Senior-loken syndrome 1	Enrichment	SDCCAG8	1.53
55	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	PLN	1.50
56	Atypical hemolytic-uremic syndrome	Enrichment	C3	1.47
57	Sudden infant death syndrome	Enrichment	PLN	1.42
58	Focal segmental glomerulosclerosis	Enrichment	SDCCAG8	1.35
59	Cardiomyopathy, dilated, 1a	Enrichment	NFATC2	1.33
60	Tetralogy of fallot	Enrichment	KDR	1.24
61	Systemic lupus erythematosus	Enrichment	CR2	1.07
62	Leukemia, acute myeloid	Enrichment	JAK2	1.06
63	Type 2 diabetes mellitus	Enrichment	INSR	1.04
64	Bardet-biedl syndrome	Enrichment	SDCCAG8	1.04
65	Hypertrophic cardiomyopathy	Enrichment	PLN	1.03
66	Thrombocytopenia	Enrichment	MPL	0.98
67	Familial isolated dilated cardiomyopathy	Enrichment	PLN	0.94
68	Dilated cardiomyopathy	Enrichment	PLN	0.78
69	Hereditary retinal dystrophy	Enrichment	SDCCAG8	0.31
70	Fundus dystrophy	Enrichment	SDCCAG8	0.31

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

16p11.2 distal deletion syndrome

Pathway Network for 16p11.2 distal deletion syndrome

Member Pathways for 16p11.2 distal deletion syndrome

Pathways in the 16p11.2 distal deletion syndrome SuperPath

Associated Genes for 16p11.2 distal deletion syndrome

Associated Disorders for 16p11.2 distal deletion syndrome

Disorders associated with 16p11.2 distal deletion syndrome SuperPath

STRING Interaction Network for 16p11.2 distal deletion syndrome

Sources for 16p11.2 distal deletion syndrome