Gene table of PLCD1 : phospholipase C delta 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PLCD1	OMIM link	Number of associated genes	genes
PS161050	NAIL DISORDER, NONSYNDROMIC CONGENITAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	PLCD1, FZD6, RSPO4, COL7A1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Inositol phosphate metabolism	hsa00562	6.72
Metabolic pathways	hsa01100	2.49
Thyroid hormone signaling pathway	hsa04919	5.82
Calcium signaling pathway	hsa04020	5.22
Phosphatidylinositol signaling system	hsa04070	6.38

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Inositol phosphate metabolism	R-HSA-1483249	7.52
Metabolism	R-HSA-1430728	2.34
Synthesis of IP3 and IP4 in the cytosol	R-HSA-1855204	8.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
GTPase activating protein binding	GO:0032794	7.1
phosphoric ester hydrolase activity	GO:0042578	3.82
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
anion binding	GO:0043168	4.17
cation binding	GO:0043169	1.4
phosphoric diester hydrolase activity	GO:0008081	5.23
phospholipid binding	GO:0005543	3.91
ion binding	GO:0043167	1.36
calcium ion binding	GO:0005509	3.17
metal ion binding	GO:0046872	1.41
phosphatidylserine binding	GO:0001786	6.24
hydrolase activity	GO:0016787	1.9
phosphatidic acid binding	GO:0070300	7.17
lipid binding	GO:0008289	3.26
hydrolase activity, acting on ester bonds	GO:0016788	3.1
catalytic activity	GO:0003824	1.05
phosphatidylinositol phosphate binding	GO:1901981	5.05
phosphatidylinositol phospholipase C activity	GO:0004435	6.41
modified amino acid binding	GO:0072341	5.56
phosphatidylinositol binding	GO:0035091	4.47
phospholipase C activity	GO:0004629	6.3
protein binding	GO:0005515	0.46
phospholipase activity	GO:0004620	5.16
lipase activity	GO:0016298	4.96