Kleefstra syndrome

No Pathway Network information available for Kleefstra syndrome

Pathways in the Kleefstra syndrome SuperPath

#	Name	Source	Genes
1	Kleefstra syndrome	WikiPathways	ARID1A ASH2L ASXL1 BAP1 DPY30 EHMT1 KDM6A KMT2C MBD5 NCOA6 NR1I3 PAGR1 PAXIP1 RBBP5 RXRA SMARCA2 SMARCB1 WDR5 (see all 18) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	NR1I3	Nuclear Receptor Subfamily 1 Group I Member 3	Protein Coding	1
2	BAP1	BRCA1 Associated Deubiquitinase 1	Protein Coding	1
3	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	1
4	EHMT1	Euchromatic Histone Lysine Methyltransferase 1	Protein Coding	1
5	KDM6A	Lysine Demethylase 6A	Protein Coding	1
6	SMARCB1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1	Protein Coding	1
7	SMARCA2	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 2	Protein Coding	1
8	RXRA	Retinoid X Receptor Alpha	Protein Coding	1
9	KMT2C	Lysine Methyltransferase 2C	Protein Coding	1
10	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	1
11	NCOA6	Nuclear Receptor Coactivator 6	Protein Coding	1
12	ASXL1	ASXL Transcriptional Regulator 1	Protein Coding	1
13	ASH2L	ASH2 Like, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	1
14	DPY30	Dpy-30 Histone Methyltransferase Complex Regulatory Subunit	Protein Coding	1
15	WDR5	WD Repeat Domain 5	Protein Coding	1
16	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	1
17	RBBP5	RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	1
18	PAXIP1	PAX Interacting Protein 1	Protein Coding	1

Disorders associated with Kleefstra syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Autism spectrum disorder	Enrichment	ASXL1, EHMT1, KDM6A, KMT2C, MBD5, SMARCB1	8.40
2	Kleefstra syndrome	Enrichment	EHMT1, KMT2C	5.78
3	Kleefstra syndrome due to a point mutation	Enrichment	EHMT1, KMT2C	5.78
4	Kleefstra syndrome 1	Enrichment	EHMT1, KMT2C	4.60
5	Myeloma, multiple	Enrichment	BAP1, KMT2C, RXRA	4.28
6	Meningioma	Enrichment	BAP1, SMARCB1	3.96
7	Coffin-siris syndrome 1	Enrichment	ARID1A, SMARCB1	3.76
8	Bladder cancer	Enrichment	ARID1A, KDM6A	3.18
9	Kabuki syndrome 2	Enrichment	KDM6A	2.88
10	Melanoma, uveal 2	Enrichment	BAP1	2.88
11	Rhabdoid tumor predisposition syndrome 1	Enrichment	SMARCB1	2.88
12	Neurilemmoma	Enrichment	SMARCB1	2.88
13	Coffin-siris syndrome 3	Enrichment	SMARCB1	2.88
14	Kleefstra syndrome 2	Enrichment	KMT2C	2.88
15	Mbd5 haploinsufficiency	Enrichment	MBD5	2.88
16	Blepharophimosis-impaired intellectual development syndrome	Enrichment	SMARCA2	2.88
17	Schwannomatosis 1	Enrichment	SMARCB1	2.58
18	Bohring-opitz syndrome	Enrichment	ASXL1	2.58
19	Rhabdoid tumor predisposition syndrome	Enrichment	SMARCB1	2.58
20	Ocular melanoma	Enrichment	BAP1	2.58
21	Blepharophimosis - intellectual disability syndrome	Enrichment	SMARCA2	2.58
22	Kury-isidor syndrome	Enrichment	BAP1	2.58
23	Schizophrenia	Enrichment	EHMT1, MBD5	2.57
24	Mesothelioma, malignant	Enrichment	BAP1	2.40
25	Tumor predisposition syndrome 1	Enrichment	BAP1	2.40
26	Coffin-siris syndrome 2	Enrichment	ARID1A	2.40
27	Atypical teratoid rhabdoid tumor	Enrichment	SMARCB1	2.40
28	Periventricular leukomalacia	Enrichment	ARID1A	2.40
29	Bap1 tumor predisposition syndrome	Enrichment	BAP1	2.40
30	Schwannomatosis	Enrichment	SMARCB1	2.40
31	Intellectual developmental disorder, autosomal dominant 1	Enrichment	MBD5	2.28
32	Nicolaides-baraitser syndrome	Enrichment	SMARCA2	2.28
33	Blepharophimosis	Enrichment	SMARCA2	2.28
34	Chronic myelomonocytic leukemia	Enrichment	ASXL1	2.28
35	Smarca2-related nicolaides-baraitser syndrome	Enrichment	SMARCA2	2.28
36	Full schwannomatosis	Enrichment	SMARCB1	2.28
37	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	ASXL1	2.28
38	2q23.1 microduplication syndrome	Enrichment	MBD5	2.18
39	Aggressive systemic mastocytosis	Enrichment	ASXL1	2.18
40	Melanoma, uveal	Enrichment	BAP1	2.10
41	Kabuki syndrome 1	Enrichment	KDM6A	2.10
42	Clear cell renal cell carcinoma	Enrichment	BAP1	2.10
43	Hypertrichosis	Enrichment	ASXL1	2.10
44	Glioma susceptibility 1	Enrichment	BAP1	1.98
45	Ewing sarcoma	Enrichment	BAP1	1.98
46	Microcephaly	Enrichment	ARID1A, ASXL1	1.95
47	Charge syndrome	Enrichment	KDM6A	1.93
48	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	ASXL1	1.93
49	Inherited cancer-predisposing syndrome	Enrichment	BAP1, SMARCB1	1.89
50	Polymicrogyria	Enrichment	EHMT1	1.88
51	Meningioma, familial	Enrichment	SMARCB1	1.84
52	Myelodysplastic syndrome	Enrichment	ASXL1	1.84
53	Septooptic dysplasia	Enrichment	ARID1A	1.80
54	Juvenile myelomonocytic leukemia	Enrichment	ASXL1	1.80
55	Nk-cell enteropathy	Enrichment	SMARCB1	1.77
56	Pituitary stalk interruption syndrome	Enrichment	SMARCA2	1.73
57	Renal cell carcinoma, nonpapillary	Enrichment	BAP1	1.70
58	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	ARID1A	1.68
59	Melanoma, cutaneous malignant 1	Enrichment	BAP1	1.65
60	Hydrops fetalis, nonimmune	Enrichment	ARID1A	1.47
61	Non-immune hydrops fetalis	Enrichment	ARID1A	1.39
62	Leukemia, acute myeloid	Enrichment	ASXL1	1.29
63	Autosomal dominant non-syndromic intellectual disability	Enrichment	MBD5	1.19
64	Autism	Enrichment	MBD5	1.04
65	Colorectal cancer	Enrichment	ARID1A	0.96
66	Ovarian cancer	Enrichment	SMARCB1	0.90
67	Complex neurodevelopmental disorder	Enrichment	BAP1	0.82

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

Kleefstra syndrome

Pathway Network for Kleefstra syndrome

Member Pathways for Kleefstra syndrome

Pathways in the Kleefstra syndrome SuperPath

Associated Genes for Kleefstra syndrome

Associated Disorders for Kleefstra syndrome

Disorders associated with Kleefstra syndrome SuperPath

STRING Interaction Network for Kleefstra syndrome

Sources for Kleefstra syndrome