Cohesin complex - Cornelia de Lange syndrome

No Pathway Network information available for Cohesin complex - Cornelia de Lange syndrome

Pathways in the Cohesin complex - Cornelia de Lange syndrome SuperPath

#	Name	Source	Genes
1	Cohesin complex - Cornelia de Lange syndrome	WikiPathways	APC AURKB CDCA5 CDK1 ESCO1 ESCO2 ESPL1 HDAC8 MAU2 NIPBL PDS5A PDS5B PLK1 PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5C PPP2R5D PPP2R5E PTPA PTTG1 RAD21 REC8 SGO1 SGO2 SMC1A SMC1B SMC3 STAG2 STAG3 WAPL (see all 33) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	PTTG1	PTTG1 Regulator Of Sister Chromatid Separation, Securin	Protein Coding	1
2	ESPL1	Extra Spindle Pole Bodies Like 1, Separase	Protein Coding	1
3	CDCA5	Cell Division Cycle Associated 5	Protein Coding	1
4	AURKB	Aurora Kinase B	Protein Coding	1
5	HDAC8	Histone Deacetylase 8	Protein Coding	1
6	REC8	REC8 Meiotic Recombination Protein	Protein Coding	1
7	CDK1	Cyclin Dependent Kinase 1	Protein Coding	1
8	SMC3	Structural Maintenance Of Chromosomes 3	Protein Coding	1
9	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	1
10	RAD21	RAD21 Cohesin Complex Component	Protein Coding	1
11	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	1
12	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	1
13	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	1
14	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	1
15	PTPA	Protein Phosphatase 2 Phosphatase Activator	Protein Coding	1
16	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	1
17	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
18	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
19	PLK1	Polo Like Kinase 1	Protein Coding	1
20	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	1
21	SMC1B	Structural Maintenance Of Chromosomes 1B	Protein Coding	1
22	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	1
23	PDS5A	PDS5 Cohesin Associated Factor A	Protein Coding	1
24	ESCO2	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2	Protein Coding	1
25	SGO1	Shugoshin 1	Protein Coding	1
26	STAG2	STAG2 Cohesin Complex Component	Protein Coding	1
27	STAG3	STAG3 Cohesin Complex Component	Protein Coding	1
28	SGO2	Shugoshin 2	Protein Coding	1
29	ESCO1	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 1	Protein Coding	1
30	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
31	MAU2	MAU2 Sister Chromatid Cohesion Factor	Protein Coding	1
32	WAPL	WAPL Cohesin Release Factor	Protein Coding	1
33	PDS5B	PDS5 Cohesin Associated Factor B	Protein Coding	1

Disorders associated with Cohesin complex - Cornelia de Lange syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Cornelia de lange syndrome 1	Enrichment	HDAC8, NIPBL, RAD21, SMC1A, SMC3	10.55
2	Cornelia de lange syndrome	Enrichment	HDAC8, NIPBL, RAD21, SMC1A, SMC3	10.55
3	Wiedemann-steiner syndrome	Enrichment	SMC1A, SMC3	4.07
4	Primary ovarian insufficiency	Enrichment	REC8, SGO2, STAG3	3.41
5	Premature menopause	Enrichment	REC8, STAG3	3.36
6	Semilobar holoprosencephaly	Enrichment	SMC1A, STAG2	3.07
7	Developmental and epileptic encephalopathy 85 with or without midline brain defects	Enrichment	SMC1A	2.61
8	Roberts-sc phocomelia syndrome	Enrichment	ESCO2	2.61
9	Holoprosencephaly 13, x-linked	Enrichment	STAG2	2.61
10	Cornelia de lange syndrome 3 with or without midline brain defects	Enrichment	SMC3	2.61
11	Cornelia de lange syndrome 4 with or without midline brain defects	Enrichment	RAD21	2.61
12	Juberg-hayward syndrome	Enrichment	ESCO2	2.61
13	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	Enrichment	PTPA	2.61
14	Cornelia de lange syndrome 5	Enrichment	HDAC8	2.61
15	Mullegama-klein-martinez syndrome	Enrichment	STAG2	2.61
16	Houge-janssens syndrome 4	Enrichment	PPP2R5C	2.61
17	Houge-janssens syndrome 2	Enrichment	PPP2R1A	2.61
18	Premature ovarian failure 8	Enrichment	STAG3	2.61
19	Mungan syndrome	Enrichment	RAD21	2.61
20	Xq25 microduplication syndrome	Enrichment	STAG2	2.61
21	Spermatogenic failure 61	Enrichment	STAG3	2.61
22	Familial adenomatous polyposis	Enrichment	APC	2.61
23	Gardner syndrome	Enrichment	APC	2.61
24	5q22 microdeletion syndrome	Enrichment	APC	2.61
25	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	2.61
26	Attenuated familial adenomatous polyposis	Enrichment	APC	2.61
27	Microcephaly	Enrichment	HDAC8, NIPBL, SMC1A	2.49
28	Cornelia de lange syndrome 2	Enrichment	SMC1A	2.31
29	Syndactyly, type iii	Enrichment	HDAC8	2.31
30	Houge-janssens syndrome 1	Enrichment	PPP2R5D	2.31
31	Wilson-turner syndrome	Enrichment	HDAC8	2.31
32	Chromosome 5p13 duplication syndrome	Enrichment	NIPBL	2.31
33	Periampullary adenoma	Enrichment	APC	2.31
34	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	2.31
35	Chronic atrial and intestinal dysrhythmia	Enrichment	SGO1	2.31
36	Houge-janssens syndrome 3	Enrichment	PPP2CA	2.31
37	Desmoid disease, hereditary	Enrichment	APC	2.14
38	Cenani-lenz syndactyly syndrome	Enrichment	APC	2.14
39	Desmoid tumor	Enrichment	APC	2.14
40	Colon adenocarcinoma	Enrichment	APC	2.14
41	Apc-associated polyposis conditions	Enrichment	APC	2.14
42	Trichorhinophalangeal syndrome, type ii	Enrichment	RAD21	2.01
43	Craniopharyngioma	Enrichment	APC	2.01
44	Familial adenomatous polyposis 1	Enrichment	APC	1.92
45	Brachydactyly	Enrichment	NIPBL	1.77
46	Vesicoureteral reflux	Enrichment	NIPBL	1.77
47	Fanconi anemia, complementation group c	Enrichment	HDAC8	1.71
48	Rett syndrome, congenital variant	Enrichment	SMC1A	1.71
49	Perrault syndrome	Enrichment	SGO2	1.71
50	Cryptorchidism	Enrichment	NIPBL	1.71
51	Cryptorchidism, unilateral or bilateral	Enrichment	NIPBL	1.66
52	Colonic benign neoplasm	Enrichment	APC	1.66
53	Atrial heart septal defect	Enrichment	HDAC8	1.58
54	Interatrial communication	Enrichment	HDAC8	1.58
55	Diaphragmatic hernia, congenital	Enrichment	NIPBL	1.51
56	Nk-cell enteropathy	Enrichment	AURKB	1.51
57	Medulloblastoma	Enrichment	APC	1.47
58	Cleft palate, isolated	Enrichment	NIPBL	1.39
59	Alobar holoprosencephaly	Enrichment	STAG2	1.39
60	Polycystic kidney disease	Enrichment	HDAC8	1.37
61	Azoospermia	Enrichment	REC8	1.32
62	Hepatoblastoma	Enrichment	APC	1.30
63	Hepatocellular carcinoma	Enrichment	APC	1.28
64	Tetralogy of fallot	Enrichment	NIPBL	1.21
65	Lung cancer	Enrichment	PPP2R1B	1.12
66	Gastric cancer	Enrichment	APC	1.00
67	Hereditary breast carcinoma	Enrichment	APC	0.99
68	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	STAG3	0.89
69	Breast cancer	Enrichment	APC	0.78
70	Colorectal cancer	Enrichment	APC	0.72
71	Ovarian cancer	Enrichment	APC	0.66
72	Congenital nervous system abnormality	Enrichment	SMC1A	0.64
73	Nervous system disease	Enrichment	SMC1A	0.64
74	Autism spectrum disorder	Enrichment	SMC3	0.63
75	Complex neurodevelopmental disorder	Enrichment	PPP2CA	0.58
76	Inherited cancer-predisposing syndrome	Enrichment	APC	0.56

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

Cohesin complex - Cornelia de Lange syndrome

Pathway Network for Cohesin complex - Cornelia de Lange syndrome

Member Pathways for Cohesin complex - Cornelia de Lange syndrome

Pathways in the Cohesin complex - Cornelia de Lange syndrome SuperPath

Associated Genes for Cohesin complex - Cornelia de Lange syndrome

Associated Disorders for Cohesin complex - Cornelia de Lange syndrome

Disorders associated with Cohesin complex - Cornelia de Lange syndrome SuperPath

STRING Interaction Network for Cohesin complex - Cornelia de Lange syndrome

Sources for Cohesin complex - Cornelia de Lange syndrome