16p11.2 proximal deletion syndrome

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

Pathways in the 16p11.2 proximal deletion syndrome SuperPath

#	Name	Source	Genes
1	16p11.2 proximal deletion syndrome	WikiPathways	ALDOA ASPHD1 BPTF C16orf54 C16orf92 CASP8 CCDC6 CCT2 CCT3 CCT4 CCT5 CCT6A CCT6B CCT7 CCT8 CDIPT CORO1A DOC2A ESR1 EZR GDPD3 HDAC3 HIRA HIRIP3 IGBP1 IGFBP3 INO80E KCTD13 KIF22 KMT2C KMT2D MAP2K3 MAP2K6 MAPK3 MAZ MSN MVP NFKB1 NR3C1 PAGR1 PARP4 PAXIP1 PCNA PPARG PPP2CA PPP2CB PPP2R1A PPP2R5D PPP4C PPP4R1 PPP4R2 PPP4R3A PPP4R3B PPP4R3C PPP4R4 PRRT2 PTEN QPRT REL SEZ6L2 SIAH1 SPN TAOK2 TBX6 TCP1 TLCD3B TMEM219 TP53 TRAF2 TRAF6 UNC13A UNC13B YPEL3 ZG16 (see all 74) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	QPRT	Quinolinate Phosphoribosyltransferase	Protein Coding	1
2	CDIPT	CDP-Diacylglycerol--Inositol 3-Phosphatidyltransferase	Protein Coding	1
3	MVP	Major Vault Protein	Protein Coding	1
4	HDAC3	Histone Deacetylase 3	Protein Coding	1
5	CASP8	Caspase 8	Protein Coding	1
6	YPEL3	Yippee Like 3	Protein Coding	1
7	KMT2D	Lysine Methyltransferase 2D	Protein Coding	1
8	CCDC6	Coiled-Coil Domain Containing 6	Protein Coding	1
9	GDPD3	Glycerophosphodiester Phosphodiesterase Domain Containing 3	Protein Coding	1
10	EZR	Ezrin	Protein Coding	1
11	CCT3	Chaperonin Containing TCP1 Subunit 3	Protein Coding	1
12	TRAF6	TNF Receptor Associated Factor 6	Protein Coding	1
13	TP53	Tumor Protein P53	Protein Coding	1
14	TCP1	T-Complex 1	Protein Coding	1
15	TBX6	T-Box Transcription Factor 6	Protein Coding	1
16	SPN	Sialophorin	Protein Coding	1
17	REL	REL Proto-Oncogene, NF-KB Subunit	Protein Coding	1
18	KMT2C	Lysine Methyltransferase 2C	Protein Coding	1
19	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
20	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	1
21	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	1
22	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
23	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	1
24	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
25	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
26	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	1
27	PCNA	Proliferating Cell Nuclear Antigen	Protein Coding	1
28	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
29	MSN	Moesin	Protein Coding	1
30	MAZ	MYC Associated Zinc Finger Protein	Protein Coding	1
31	IGFBP3	Insulin Like Growth Factor Binding Protein 3	Protein Coding	1
32	IGBP1	Immunoglobulin Binding Protein 1	Protein Coding	1
33	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	1
34	SEZ6L2	Seizure Related 6 Homolog Like 2	Protein Coding	1
35	UNC13A	Unc-13 Homolog A	Protein Coding	1
36	CCT5	Chaperonin Containing TCP1 Subunit 5	Protein Coding	1
37	ALDOA	Aldolase, Fructose-Bisphosphate A	Protein Coding	1
38	BPTF	Bromodomain PHD Finger Transcription Factor	Protein Coding	1
39	ESR1	Estrogen Receptor 1	Protein Coding	1
40	PARP4	Poly(ADP-Ribose) Polymerase Family Member 4	Protein Coding	1
41	PPP4R3C	Protein Phosphatase 4 Regulatory Subunit 3C	Protein Coding	1
42	PRRT2	Proline Rich Transmembrane Protein 2	Protein Coding	1
43	CORO1A	Coronin 1A	Protein Coding	1
44	CCT6B	Chaperonin Containing TCP1 Subunit 6B	Protein Coding	1
45	CCT2	Chaperonin Containing TCP1 Subunit 2	Protein Coding	1
46	CCT7	Chaperonin Containing TCP1 Subunit 7	Protein Coding	1
47	PPP4R2	Protein Phosphatase 4 Regulatory Subunit 2	Protein Coding	1
48	PPP4R1	Protein Phosphatase 4 Regulatory Subunit 1	Protein Coding	1
49	CCT6A	Chaperonin Containing TCP1 Subunit 6A	Protein Coding	1
50	HIRIP3	HIRA Interacting Protein 3	Protein Coding	1
51	DOC2A	Double C2 Domain Alpha	Protein Coding	1
52	C16orf92	Chromosome 16 Open Reading Frame 92	Protein Coding	1
53	TMEM219	Transmembrane Protein 219	Protein Coding	1
54	CCT8	Chaperonin Containing TCP1 Subunit 8	Protein Coding	1
55	CCT4	Chaperonin Containing TCP1 Subunit 4	Protein Coding	1
56	UNC13B	Unc-13 Homolog B	Protein Coding	1
57	TLCD3B	TLC Domain Containing 3B	Protein Coding	1
58	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	1
59	HIRA	Histone Cell Cycle Regulator	Protein Coding	1
60	TRAF2	TNF Receptor Associated Factor 2	Protein Coding	1
61	ZG16	Zymogen Granule Protein 16	Protein Coding	1
62	SIAH1	Siah E3 Ubiquitin Protein Ligase 1	Protein Coding	1
63	PPP4R4	Protein Phosphatase 4 Regulatory Subunit 4	Protein Coding	1
64	PPP4R3B	Protein Phosphatase 4 Regulatory Subunit 3B	Protein Coding	1
65	PPP4R3A	Protein Phosphatase 4 Regulatory Subunit 3A	Protein Coding	1
66	PPP4C	Protein Phosphatase 4 Catalytic Subunit	Protein Coding	1
67	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
68	KIF22	Kinesin Family Member 22	Protein Coding	1
69	TAOK2	TAO Kinase 2	Protein Coding	1
70	INO80E	INO80 Complex Subunit E	Protein Coding	1
71	C16orf54	Chromosome 16 Open Reading Frame 54	Protein Coding	1
72	ASPHD1	Aspartate Beta-Hydroxylase Domain Containing 1	Protein Coding	1
73	KCTD13	Potassium Channel Tetramerization Domain Containing 13	Protein Coding	1
74	PAXIP1	PAX Interacting Protein 1	Protein Coding	1

Disorders associated with 16p11.2 proximal deletion syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Cone-rod dystrophy 22	Enrichment	C16orf92, TLCD3B	4.53
2	Convulsions, familial infantile, with paroxysmal choreoathetosis	Enrichment	MVP, PRRT2	3.54
3	Lymphoma	Enrichment	KMT2D, TP53	3.54
4	Acute megakaryocytic leukemia	Enrichment	PTEN, TP53	3.54
5	Squamous cell carcinoma, head and neck	Enrichment	PTEN, TP53	3.22
6	Breast cancer	Enrichment	CASP8, ESR1, PTEN, TP53	3.13
7	Adult hepatocellular carcinoma	Enrichment	CASP8, TP53	2.99
8	Primary hyperaldosteronism	Enrichment	NR3C1, TP53	2.99
9	Hereditary breast carcinoma	Enrichment	ESR1, PTEN, TP53	2.76
10	Rhabdomyosarcoma	Enrichment	PTEN, TP53	2.47
11	Gliosarcoma	Enrichment	PPARG, TP53	2.47
12	Myeloma, multiple	Enrichment	KMT2C, KMT2D, TP53	2.45
13	Giant cell glioblastoma	Enrichment	PPARG, TP53	2.42
14	Diffuse large b-cell lymphoma	Enrichment	PTEN, TP53	2.33
15	Vacterl association with hydrocephalus	Enrichment	PTEN	2.26
16	Immunodeficiency 50	Enrichment	MSN	2.26
17	Caspase 8 deficiency	Enrichment	CASP8	2.26
18	Branchial cleft anomalies	Enrichment	KMT2D	2.26
19	Glucocorticoid resistance, generalized	Enrichment	NR3C1	2.26
20	Immunodeficiency 92	Enrichment	REL	2.26
21	Bone marrow failure syndrome 5	Enrichment	TP53	2.26
22	Intellectual developmental disorder with polymicrogyria and seizures	Enrichment	TCP1	2.26
23	Papilloma of choroid plexus	Enrichment	TP53	2.26
24	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	Enrichment	CCT5	2.26
25	Basal cell carcinoma 7	Enrichment	TP53	2.26
26	Anaplastic thyroid carcinoma	Enrichment	TP53	2.26
27	Papillary tumor of the pineal region	Enrichment	PTEN	2.26
28	Autosomal recessive sensory neuropathy with spastic paraplegia	Enrichment	CCT5	2.26
29	Houge-janssens syndrome 2	Enrichment	PPP2R1A	2.26
30	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	Enrichment	KIF22	2.26
31	Ataxia-telangiectasia-like disorder 2	Enrichment	PCNA	2.26
32	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	Enrichment	KMT2D	2.26
33	Glioma susceptibility 2	Enrichment	PTEN	2.26
34	Ductal carcinoma in situ	Enrichment	TP53	2.26
35	Kleefstra syndrome 2	Enrichment	KMT2C	2.26
36	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.26
37	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.26
38	Pparg-associated congenital generalized lipodystrophy	Enrichment	PPARG	2.26
39	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.26
40	Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination	Enrichment	CCT3	2.26
41	Choroid plexus cancer	Enrichment	TP53	2.26
42	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.26
43	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	2.26
44	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.26
45	Autosomal dominant spondylocostal dysostosis	Enrichment	TBX6	2.26
46	Hepatocellular carcinoma	Enrichment	CASP8, TP53	2.20
47	Myocardial infarction	Enrichment	CCT7, ESR1	2.20
48	Bladder cancer	Enrichment	PTEN, TP53	1.97
49	Prostate cancer	Enrichment	PTEN, TP53	1.97
50	Differentiated thyroid carcinoma	Enrichment	CCDC6, PPARG	1.97
51	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.96
52	Galactosemia ii	Enrichment	NR3C1	1.96
53	Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia	Enrichment	IGBP1	1.96
54	Carotid intimal medial thickness 1	Enrichment	PPARG	1.96
55	Cervical cancer	Enrichment	TP53	1.96
56	Seizures, benign familial infantile, 2	Enrichment	PRRT2	1.96
57	Complement component c1s deficiency	Enrichment	KMT2D	1.96
58	Choanal atresia, posterior	Enrichment	KMT2D	1.96
59	Lymphoma, hodgkin, classic	Enrichment	TP53	1.96
60	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.96
61	Houge-janssens syndrome 1	Enrichment	PPP2R5D	1.96
62	Sinoatrial node disease	Enrichment	CORO1A	1.96
63	Glycogen storage disease xii	Enrichment	ALDOA	1.96
64	Kleefstra syndrome	Enrichment	KMT2C	1.96
65	Congenital fibrosarcoma	Enrichment	TP53	1.96
66	Li-fraumeni syndrome 1	Enrichment	TP53	1.96
67	Sarcoma	Enrichment	TP53	1.96
68	Cervix carcinoma	Enrichment	TP53	1.96
69	Hodgkin's lymphoma	Enrichment	TP53	1.96
70	17q24.2 microdeletion syndrome	Enrichment	BPTF	1.96
71	Buratti-harel syndrome	Enrichment	SIAH1	1.96
72	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.96
73	Familial partial lipodystrophy	Enrichment	PPARG	1.96
74	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	Enrichment	IGBP1	1.96
75	Vacterl with hydrocephalus	Enrichment	PTEN	1.96
76	Kleefstra syndrome due to a point mutation	Enrichment	KMT2C	1.96
77	Common variable immunodeficiency 12	Enrichment	NFKB1	1.96
78	Juvenile polyposis of infancy	Enrichment	PTEN	1.96
79	Prrt2-related disorder	Enrichment	PRRT2	1.96
80	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.96
81	Lung cancer	Enrichment	CASP8, KMT2D	1.88
82	Spondylocostal dysostosis 5	Enrichment	TBX6	1.79
83	Osteogenic sarcoma	Enrichment	TP53	1.79
84	Glut1 deficiency syndrome 2	Enrichment	PRRT2	1.79
85	Nasopharyngeal carcinoma	Enrichment	TP53	1.79
86	Estrogen resistance	Enrichment	ESR1	1.79
87	Immunodeficiency 8 with lymphoproliferation	Enrichment	CORO1A	1.79
88	Coronin-1a deficiency	Enrichment	CORO1A	1.79
89	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.79
90	Anaplastic astrocytoma	Enrichment	TP53	1.79
91	Squamous cell carcinoma	Enrichment	TP53	1.79
92	Adenocarcinoma	Enrichment	TP53	1.79
93	Migraine without aura	Enrichment	ESR1	1.79
94	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.79
95	Bone osteosarcoma	Enrichment	TP53	1.79
96	Paroxysmal nonkinesigenic dyskinesia 1	Enrichment	PRRT2	1.66
97	Kaposi sarcoma	Enrichment	BPTF	1.66
98	Episodic kinesigenic dyskinesia 1	Enrichment	PRRT2	1.66
99	Small cell cancer of the lung	Enrichment	TP53	1.66
100	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.66
101	Microtia-anotia	Enrichment	KMT2D	1.66
102	Lipodystrophy, familial partial, type 3	Enrichment	PPARG	1.66
103	Leptin deficiency or dysfunction	Enrichment	PPARG	1.66
104	Intellectual developmental disorder, autosomal dominant 26	Enrichment	KMT2D	1.66
105	Congenital generalized lipodystrophy	Enrichment	PPARG	1.66
106	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.66
107	Lung sarcomatoid carcinoma	Enrichment	TP53	1.66
108	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.66
109	Familial paroxysmal nonkinesigenic dyskinesia	Enrichment	PRRT2	1.66
110	Familial or sporadic hemiplegic migraine	Enrichment	PRRT2	1.66
111	Sick sinus syndrome	Enrichment	CORO1A	1.66
112	Glioma	Enrichment	PTEN	1.66
113	Gastric cancer	Enrichment	PTEN, TP53	1.64
114	Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	Enrichment	TRAF6	1.57
115	Rhabdomyosarcoma 2	Enrichment	TP53	1.57
116	Macrocephaly/autism syndrome	Enrichment	PTEN	1.57
117	Amblyopia	Enrichment	KMT2D	1.57
118	Hemangioma	Enrichment	PTEN	1.57
119	Hemimegalencephaly	Enrichment	PTEN	1.57
120	Self-limited infantile epilepsy	Enrichment	PRRT2	1.57
121	Li-fraumeni syndrome	Enrichment	TP53	1.49
122	Kabuki syndrome 1	Enrichment	KMT2D	1.49
123	Cowden syndrome 1	Enrichment	PTEN	1.49
124	Kleefstra syndrome 1	Enrichment	KMT2C	1.49
125	Adrenocortical carcinoma	Enrichment	TP53	1.49
126	Breast adenocarcinoma	Enrichment	TP53	1.49
127	Spondylocostal dysostosis, autosomal recessive	Enrichment	TBX6	1.49
128	Hereditary breast ovarian cancer syndrome	Enrichment	PTEN, TP53	1.44
129	Esophageal cancer	Enrichment	TP53	1.43
130	Thyroid cancer, nonmedullary, 2	Enrichment	PTEN	1.43
131	Essential thrombocythemia	Enrichment	TP53	1.43
132	Gallbladder cancer	Enrichment	TP53	1.43
133	Common variable immunodeficiency	Enrichment	NFKB1	1.43
134	Follicular thyroid carcinoma	Enrichment	PTEN	1.43
135	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.43
136	Glioma susceptibility 1	Enrichment	TP53	1.37
137	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.37
138	Charge syndrome	Enrichment	KMT2D	1.32
139	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	BPTF	1.32
140	Cowden syndrome	Enrichment	PTEN	1.32
141	Amyotrophic lateral sclerosis 1	Enrichment	UNC13A	1.27
142	Leukemia, chronic lymphocytic	Enrichment	TP53	1.27
143	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.27
144	Melanoma	Enrichment	PTEN	1.27
145	Familial colorectal cancer	Enrichment	TP53	1.27
146	Migraine with or without aura 1	Enrichment	ESR1	1.23
147	Meningioma, familial	Enrichment	PTEN	1.23
148	Myelodysplastic syndrome	Enrichment	TP53	1.23
149	Uterine corpus cancer	Enrichment	PTEN	1.23
150	Autism	Enrichment	KMT2D, UNC13A	1.23
151	Digeorge syndrome	Enrichment	HIRA	1.20
152	Meningioma	Enrichment	PTEN	1.20
153	Lip and oral cavity carcinoma	Enrichment	TP53	1.20
154	Lung cancer susceptibility 3	Enrichment	TP53	1.13
155	Generalized epilepsy with febrile seizures plus	Enrichment	PRRT2	1.13
156	Male infertility with spermatogenesis disorder	Enrichment	KMT2D	1.10
157	Colorectal cancer	Enrichment	PPARG, TP53	1.09
158	Dandy-walker syndrome	Enrichment	KMT2D	1.05
159	Ovarian cancer	Enrichment	PTEN, TP53	0.98
160	Endometrial cancer	Enrichment	PTEN	0.96
161	Hepatoblastoma	Enrichment	TP53	0.96
162	Congenital nervous system abnormality	Enrichment	KMT2D, PTEN	0.94
163	Nervous system disease	Enrichment	KMT2D, PTEN	0.94
164	Diamond-blackfan anemia 1	Enrichment	TP53	0.93
165	Autism spectrum disorder	Enrichment	KMT2C, PTEN	0.92
166	Scoliosis	Enrichment	TBX6	0.91
167	Pancreatic cancer	Enrichment	TP53	0.89
168	Strabismus	Enrichment	KMT2D	0.86
169	Complex neurodevelopmental disorder	Enrichment	PPP2CA, SIAH1	0.83
170	Inherited cancer-predisposing syndrome	Enrichment	PTEN, TP53	0.79
171	Severe combined immunodeficiency	Enrichment	CORO1A	0.78
172	Diamond-blackfan anemia	Enrichment	TP53	0.75
173	Leukemia, acute myeloid	Enrichment	TP53	0.71
174	Type 2 diabetes mellitus	Enrichment	PPARG	0.69
175	Body mass index quantitative trait locus 11	Enrichment	PPARG	0.62
176	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	UNC13A	0.56
177	Autosomal recessive non-syndromic intellectual disability	Enrichment	EZR	0.56
178	Cone-rod dystrophy 2	Enrichment	TLCD3B	0.51
179	Leber plus disease	Enrichment	CCT2	0.39
180	Microcephaly	Enrichment	KMT2D	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 proximal deletion syndrome

Pathway Network for 16p11.2 proximal deletion syndrome

Member Pathways for 16p11.2 proximal deletion syndrome

Pathways in the 16p11.2 proximal deletion syndrome SuperPath

Associated Genes for 16p11.2 proximal deletion syndrome

Associated Disorders for 16p11.2 proximal deletion syndrome

Disorders associated with 16p11.2 proximal deletion syndrome SuperPath

STRING Interaction Network for 16p11.2 proximal deletion syndrome

Sources for 16p11.2 proximal deletion syndrome