Gene table of SERPINH1 : serpin family H member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SERPINH1	OMIM link	Number of associated genes	genes
610504	PRETERM PREMATURE RUPTURE OF THE MEMBRANES	ClinVar, OMIM	link to OMIM	3	SERPINH1, MMP1, MMP8
PS166200	OSTEOGENESIS IMPERFECTA	ClinVar, OMIM, HUMSAVAR	link to OMIM	14	FKBP10, PPIB, WNT1, BMP1, TMEM38B, P3H1, COL1A1, COL1A2, CRTAP, IFITM5, SPARC, SERPINF1, SP7, SERPINH1

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

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98
Extracellular matrix organization	R-HSA-1474244	4.91
Collagen formation	R-HSA-1474290	6.56

Associated GO terms for Molecular function

GO term	GO ID	GO IC
peptidase regulator activity	GO:0061134	4.37
peptidase inhibitor activity	GO:0030414	4.55
collagen binding	GO:0005518	5.58
organic cyclic compound binding	GO:0097159	1.05
enzyme regulator activity	GO:0030234	2.85
serine-type endopeptidase inhibitor activity	GO:0004867	5.16
poly(A) RNA binding	GO:0044822	2.69
unfolded protein binding	GO:0051082	5.13
endopeptidase regulator activity	GO:0061135	4.57
macromolecular complex binding	GO:0044877	2.61
protein binding	GO:0005515	0.46
endopeptidase inhibitor activity	GO:0004866	4.6
RNA binding	GO:0003723	2.36
protein complex binding	GO:0032403	3.09
enzyme inhibitor activity	GO:0004857	3.78
molecular function regulator	GO:0098772	2.51
heterocyclic compound binding	GO:1901363	1.06
nucleic acid binding	GO:0003676	1.44
binding	GO:0005488	0.18