1q21.1 copy number variation syndrome

No Pathway Network information available for 1q21.1 copy number variation syndrome

Pathways in the 1q21.1 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	1q21.1 copy number variation syndrome	WikiPathways	ACP6 AFDN AMELX BCL9 CCT8P1 CHD1L CTNNB1 F11R FMO5 GJA1 GJA3 GJA5 GJA8 KIRREL1 NBPF12 OCLN OR13Z1P OR13Z3P PRKAB1 PRKAB2 PRKAG2 PRKAG3 PYGO1 PYGO2 RN7SL261P RPL7AP15 TJP1 TJP2 TJP3 (see all 29) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	ACP6	Acid Phosphatase 6, Lysophosphatidic	Protein Coding	1
2	CHD1L	Chromodomain Helicase DNA Binding Protein 1 Like	Protein Coding	1
3	TJP2	Tight Junction Protein 2	Protein Coding	1
4	TJP1	Tight Junction Protein 1	Protein Coding	1
5	BCL9	BCL9 Transcription Coactivator	Protein Coding	1
6	PRKAB1	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1	Protein Coding	1
7	PRKAG3	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 3	Protein Coding	1
8	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	1
9	AFDN	Afadin, Adherens Junction Formation Factor	Protein Coding	1
10	TJP3	Tight Junction Protein 3	Protein Coding	1
11	GJA8	Gap Junction Protein Alpha 8	Protein Coding	1
12	GJA5	Gap Junction Protein Alpha 5	Protein Coding	1
13	GJA3	Gap Junction Protein Alpha 3	Protein Coding	1
14	GJA1	Gap Junction Protein Alpha 1	Protein Coding	1
15	AMELX	Amelogenin X-Linked	Protein Coding	1
16	CTNNB1	Catenin Beta 1	Protein Coding	1
17	OCLN	Occludin	Protein Coding	1
18	NBPF12	NBPF Member 12	Protein Coding	1
19	PYGO2	Pygopus Family PHD Finger 2	Protein Coding	1
20	RN7SL261P	RNA, 7SL, Cytoplasmic 261, Pseudogene	Pseudogene	1
21	CCT8P1	Chaperonin Containing TCP1 Subunit 8 Pseudogene 1	Pseudogene	1
22	PRKAB2	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 2	Protein Coding	1
23	KIRREL1	Kirre Like Nephrin Family Adhesion Molecule 1	Protein Coding	1
24	F11R	F11 Receptor	Protein Coding	1
25	OR13Z3P	Olfactory Receptor Family 13 Subfamily Z Member 3 Pseudogene	Pseudogene	1
26	OR13Z1P	Olfactory Receptor Family 13 Subfamily Z Member 1 Pseudogene	Pseudogene	1
27	PYGO1	Pygopus Family PHD Finger 1	Protein Coding	1
28	FMO5	Flavin Containing Dimethylaniline Monoxygenase 5	Protein Coding	1
29	RPL7AP15	Ribosomal Protein L7a Pseudogene 15	Pseudogene	1

Disorders associated with 1q21.1 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Cataract 30, multiple types	Enrichment	GJA3, GJA8	3.71
2	Early-onset nuclear cataract	Enrichment	GJA3, GJA8	3.18
3	Palmoplantar keratoderma and congenital alopecia 1	Enrichment	GJA1	2.67
4	Pseudo-torch syndrome 1	Enrichment	OCLN	2.67
5	Hypoplastic left heart syndrome 1	Enrichment	GJA1	2.67
6	Cataract 14, multiple types	Enrichment	GJA3	2.67
7	Deafness, autosomal dominant 51	Enrichment	TJP2	2.67
8	Oculodentodigital dysplasia	Enrichment	GJA1	2.67
9	Cataract 1, multiple types	Enrichment	GJA8	2.67
10	Craniometaphyseal dysplasia, autosomal recessive	Enrichment	GJA1	2.67
11	Cardiomyopathy, familial hypertrophic, 6	Enrichment	PRKAG2	2.67
12	Oculodentodigital dysplasia, autosomal recessive	Enrichment	GJA1	2.67
13	Glycogen storage disease of heart, lethal congenital	Enrichment	PRKAG2	2.67
14	Skeletal muscle glycogen content and metabolism quantitative trait locus	Enrichment	PRKAG3	2.67
15	Erythrokeratodermia variabilis et progressiva 3	Enrichment	GJA1	2.67
16	Adenoid ameloblastoma	Enrichment	CTNNB1	2.67
17	Microcystic stromal tumor	Enrichment	CTNNB1	2.67
18	Atrial standstill 1	Enrichment	GJA5	2.37
19	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	2.37
20	Congenital cataracts, facial dysmorphism, and neuropathy	Enrichment	GJA3	2.37
21	Hallermann-streiff syndrome	Enrichment	GJA1	2.37
22	Cholestasis, progressive familial intrahepatic, 4	Enrichment	TJP2	2.37
23	Atrial fibrillation, familial, 11	Enrichment	GJA5	2.37
24	Syndactyly, type iii	Enrichment	GJA1	2.37
25	Syndactyly, type v	Enrichment	GJA1	2.37
26	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	2.37
27	Craniometaphyseal dysplasia	Enrichment	GJA1	2.37
28	Nephrotic syndrome, type 23	Enrichment	KIRREL1	2.37
29	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.37
30	Teratoma	Enrichment	CTNNB1	2.37
31	Desmoid disease, hereditary	Enrichment	CTNNB1	2.19
32	Hypercholanemia, familial 1	Enrichment	TJP2	2.19
33	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	2.19
34	Anus, imperforate	Enrichment	CTNNB1	2.19
35	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	2.19
36	Desmoid tumor	Enrichment	CTNNB1	2.19
37	Sclerocornea	Enrichment	GJA8	2.19
38	Pilomatrixoma	Enrichment	CTNNB1	2.07
39	Alazami syndrome	Enrichment	CTNNB1	2.07
40	Craniopharyngioma	Enrichment	CTNNB1	2.07
41	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.97
42	Cleft upper lip	Enrichment	GJA1	1.97
43	Branchiootorenal syndrome 1	Enrichment	TJP2	1.89
44	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.89
45	Adrenocortical carcinoma	Enrichment	CTNNB1	1.89
46	Familial hypercholanemia	Enrichment	TJP2	1.89
47	Early-onset sutural cataract	Enrichment	GJA8	1.89
48	Branchiootorenal syndrome	Enrichment	TJP2	1.83
49	Gallbladder cancer	Enrichment	CTNNB1	1.83
50	Amelogenesis imperfecta type 2	Enrichment	AMELX	1.83
51	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJA1	1.77
52	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.77
53	Hypoplastic left heart syndrome	Enrichment	GJA1	1.77
54	Cataract - microcornea syndrome	Enrichment	GJA8	1.77
55	Early-onset posterior polar cataract	Enrichment	GJA3	1.77
56	Adult hepatocellular carcinoma	Enrichment	CTNNB1	1.72
57	Primary biliary cholangitis	Enrichment	TJP2	1.72
58	Amelogenesis imperfecta, type ie	Enrichment	AMELX	1.67
59	Amelogenesis imperfecta	Enrichment	AMELX	1.56
60	Medulloblastoma	Enrichment	CTNNB1	1.53
61	Anterior segment dysgenesis	Enrichment	GJA8	1.50
62	Wolff-parkinson-white syndrome	Enrichment	PRKAG2	1.47
63	Isolated congenital microcephaly	Enrichment	OCLN	1.47
64	Cataract 44	Enrichment	GJA8	1.45
65	Polycystic liver disease	Enrichment	CTNNB1	1.45
66	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.45
67	Hepatoblastoma	Enrichment	CTNNB1	1.36
68	Hepatocellular carcinoma	Enrichment	CTNNB1	1.34
69	Microphthalmia	Enrichment	GJA8	1.34
70	Familial atrial fibrillation	Enrichment	GJA5	1.30
71	Tetralogy of fallot	Enrichment	GJA5	1.27
72	Bladder cancer	Enrichment	CTNNB1	1.22
73	Familial hypertrophic cardiomyopathy	Enrichment	PRKAG2	1.17
74	Hypertrophic cardiomyopathy	Enrichment	PRKAG2	1.06
75	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	TJP2	0.98
76	Colorectal cancer	Enrichment	CTNNB1	0.77
77	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	GJA1	0.76
78	Ovarian cancer	Enrichment	CTNNB1	0.71
79	Congenital nervous system abnormality	Enrichment	CTNNB1	0.69
80	Nervous system disease	Enrichment	CTNNB1	0.69
81	Microcephaly	Enrichment	CTNNB1	0.63

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

1q21.1 copy number variation syndrome

Pathway Network for 1q21.1 copy number variation syndrome

Member Pathways for 1q21.1 copy number variation syndrome

Pathways in the 1q21.1 copy number variation syndrome SuperPath

Associated Genes for 1q21.1 copy number variation syndrome

Associated Disorders for 1q21.1 copy number variation syndrome

Disorders associated with 1q21.1 copy number variation syndrome SuperPath

STRING Interaction Network for 1q21.1 copy number variation syndrome

Sources for 1q21.1 copy number variation syndrome