IRS4, insulin receptor substrate 4, 8471

N. diseases: 35; N. variants: 0
Disease: Congenital central hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4302200
Disease: Congenital central hypothyroidism
Congenital central hypothyroidism 		0.310 GeneticVariation disease BEFREE Sequencing of IRS4 in 12 unrelated CeH cases negative for variants in known genes yielded three frameshift mutations (two novel) in three patients and one male sibling. 30061370 2018
CUI: C4302200
Disease: Congenital central hypothyroidism
Congenital central hypothyroidism 		0.310 Biomarker disease GENOMICS_ENGLAND Mice lacking insulin receptor substrate 4 exhibit mild defects in growth, reproduction, and glucose homeostasis. 10644546 2000