Gene table of PTHLH : parathyroid hormone like hormone

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PTHLH	OMIM link	Number of associated genes	genes
613382	BRACHYDACTYLY, TYPE E2	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PTHLH

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
Class B/2 (Secretin family receptors)	R-HSA-373080	6.52
Signaling by GPCR	R-HSA-372790	2.68
GPCR downstream signaling	R-HSA-388396	3.07
GPCR ligand binding	R-HSA-500792	4.19
G alpha (s) signalling events	R-HSA-418555	5.99
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hormone activity	GO:0005179	4.95
protein binding	GO:0005515	0.46
binding	GO:0005488	0.18
peptide hormone receptor binding	GO:0051428	6.91
hormone receptor binding	GO:0051427	4.57
receptor binding	GO:0005102	2.43