Gene table of PTRF : polymerase I and transcript release factor

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PTRF	OMIM link	Number of associated genes	genes
PS608594	LIPODYSTROPHY, CONGENITAL GENERALIZED	ClinVar, OMIM	link to OMIM	4	BSCL2, PTRF, AGPAT2, CAV1

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
RNA Polymerase I Transcription	R-HSA-73864	6.72
Gene Expression	R-HSA-74160	2.72
RNA Polymerase I Transcription Termination	R-HSA-73863	8.03
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription	R-HSA-504046	6.16

Associated GO terms for Molecular function

GO term	GO ID	GO IC
rRNA primary transcript binding	GO:0042134	8.35
nucleic acid binding	GO:0003676	1.44
organic cyclic compound binding	GO:0097159	1.05
poly(A) RNA binding	GO:0044822	2.69
rRNA binding	GO:0019843	5.68
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
heterocyclic compound binding	GO:1901363	1.06
RNA binding	GO:0003723	2.36