Disease table of SPLIT-HAND/FOOT MALFORMATION OMIM ID: PS183600

Gene-disease associations table

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Gene	Associated with SPLIT-HAND/FOOT MALFORMATION in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
DLX5	ClinVar, OMIM, HUMSAVAR	HGNC link	7q21.3	1	PS183600
TP63	ClinVar, OMIM, HUMSAVAR	HGNC link	3q28	6	106260, 103285, 604292, PS119530, PS183600, 603543
WNT10B	ClinVar, OMIM, HUMSAVAR	HGNC link	12q13.12	1	PS183600
ZAK	ClinVar	HGNC link	2q31.1	2	616890, PS183600

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
DLX5	YES	4	IRS2, IGFBP3, MYC, IBSP	0
TP63	YES	11	BAX, TCF4, VDR, KLF4, CDKN1A, FDXR, EVPL, SMARCD3, XPC, PPARA, DDB2	0

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
DLX5	YES	1	POU5F1	0
TP63	YES	3	SATB2, BRCA1, STAT3	0

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Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
ZAK	TP63	No	1	SFN

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Signaling pathways regulating pluripotency of stem cells	hsa04550	5.6	2	DLX5, WNT10B

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REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0001077)	4.31	2	DLX5, TP63
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding (GO:0001228)	3.98	2	DLX5, TP63
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0000982)	3.94	2	DLX5, TP63
protein domain specific binding (GO:0019904)	3.32	2	DLX5, TP63
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981)	3.29	2	DLX5, TP63
double-stranded DNA binding (GO:0003690)	3.09	2	DLX5, TP63
regulatory region DNA binding (GO:0000975)	3.03	2	DLX5, TP63
regulatory region nucleic acid binding (GO:0001067)	3.03	2	DLX5, TP63
transcription regulatory region DNA binding (GO:0044212)	3.03	2	DLX5, TP63
sequence-specific DNA binding (GO:0043565)	2.79	2	DLX5, TP63

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	-	4.31	0.031	DLX5, TP63

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
positive regulation of osteoblast differentiation (GO:0045669)	5.62	3	WNT10B, DLX5, TP63
positive regulation of cell cycle phase transition (GO:1901989)	5.62	2	WNT10B, TP63
regulation of epidermis development (GO:0045682)	5.57	2	WNT10B, TP63
DNA damage checkpoint (GO:0000077)	5.37	2	ZAK, TP63
positive regulation of ossification (GO:0045778)	5.27	3	WNT10B, DLX5, TP63
DNA integrity checkpoint (GO:0031570)	5.25	2	ZAK, TP63
embryonic limb morphogenesis (GO:0030326)	5.24	2	DLX5, TP63
embryonic appendage morphogenesis (GO:0035113)	5.24	2	DLX5, TP63
limb morphogenesis (GO:0035108)	5.05	2	DLX5, TP63
appendage morphogenesis (GO:0035107)	5.05	2	DLX5, TP63

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
positive regulation of osteoblast differentiation (GO:0045669)	-	5.62	0.002	DLX5, WNT10B, TP63
positive regulation of cell cycle phase transition (GO:1901989)	-	5.62	0.016	WNT10B, TP63
regulation of epidermis development (GO:0045682)	-	5.57	0.024	WNT10B, TP63
regulation of osteoblast differentiation (GO:0045667)	-	4.99	0.015	DLX5, WNT10B, TP63
positive regulation of canonical Wnt signaling pathway (GO:0090263)	-	4.95	0.03	DLX5, WNT10B
regulation of ossification (GO:0030278)	-	4.53	0.002	DLX5, WNT10B, TP63
regulation of epithelial cell proliferation (GO:0050678)	-	4.06	0.005	WNT10B, DLX5, TP63
positive regulation of apoptotic process (GO:0043065)	-	3.38	0.021	C9J3F7;D4Q8H0;Q9NYL2**, DLX5, WNT10B, TP63
positive regulation of programmed cell death (GO:0043068)	-	3.38	0.022	DLX5, C9J3F7;D4Q8H0;Q9NYL2**, WNT10B, TP63
positive regulation of cell death (GO:0010942)	-	3.32	0.023	C9J3F7;D4Q8H0;Q9NYL2**, DLX5, WNT10B, TP63

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
nuclear chromatin (GO:0000790)	4.42	2	DLX5, TP63
chromatin (GO:0000785)	3.99	2	DLX5, TP63
nuclear chromosome part (GO:0044454)	3.67	2	DLX5, TP63
chromosomal part (GO:0044427)	3.18	2	DLX5, TP63
nuclear part (GO:0044428)	1.55	2	DLX5, TP63
macromolecular complex (GO:0032991)	1.35	2	DLX5, TP63
nucleus (GO:0005634)	1.07	3	ZAK, DLX5, TP63
cytoplasm (GO:0005737)	1.01	3	ZAK, DLX5, TP63
intracellular organelle part (GO:0044446)	0.81	2	DLX5, TP63
organelle part (GO:0044422)	0.79	2	DLX5, TP63

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
nuclear chromatin (GO:0000790)	-	4.42	0.015	DLX5, TP63
chromatin (GO:0000785)	-	3.99	0.04	DLX5, TP63
extracellular matrix (GO:0031012)	NEW	3.81	0.008	WNT10B, DLX5, TP63
nuclear chromosome part (GO:0044454)	-	3.67	0.05	DLX5, TP63

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