Silver-russell syndrome | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

Log in to bookmark this disease

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
SILVER-RUSSELL SYNDROME	MONDO:0008394 MESH:D056730	CDKN1C	Unknown	—	GenCC	Cell cycle Cyclin D associated events in G1
		CSH1	Unknown	14642004	CTD	Cytokine-cytokine receptor interaction Neuroactive ligand-receptor interaction Hormone signaling +5 more
		FOXP2	Unknown	17033973	CTD	—
		GH2	Unknown	14642004	CTD	Cytokine-cytokine receptor interaction Neuroactive ligand-receptor interaction Hormone signaling +5 more
		IGF2	Unknown	19066168	CTD	MAPK signaling pathway Ras signaling pathway Hormone signaling +9 more
SILVER-RUSSELL SYNDROME 1	C5393125 180860 MONDO:0020796	HMGA2	Causal	—	Disgenet	Transcriptional misregulation in cancer MicroRNAs in cancer Formation of Senescence-Associated Heterochromatin Foci (SAHF)
		IGF2	Causal	—	ClinVar, Disgenet, HPO	MAPK signaling pathway Ras signaling pathway Hormone signaling +9 more
		PLAG1	Causal	—	Disgenet	—
		-	Unknown	—	HPO	—
		DLK1	Unknown	—	Disgenet	—
		INS-IGF2	Unknown	—	Disgenet	—
SILVER-RUSSELL SYNDROME 3	616489 C4225307 MONDO:0014663	IGF2	Causal	26154720 28489339 28796236 30152198 30400067 31544945 33567274	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	MAPK signaling pathway Ras signaling pathway Hormone signaling +9 more
SILVER-RUSSELL SYNDROME 3	616489 C4225307 MONDO:0014663	INS-IGF2	Unknown	—	Disgenet	—
SILVER-RUSSELL SYNDROME 4	618907 C5394450 MONDO:0030118	PLAG1	Causal	15606491 28796236 32546215	ClinVar, Disgenet, GWAS catalog, HPO	—
SILVER-RUSSELL SYNDROME 5	618908 C5394456 MONDO:0020795	HMGA2	Causal	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	Transcriptional misregulation in cancer MicroRNAs in cancer Formation of Senescence-Associated Heterochromatin Foci (SAHF)
SILVER-RUSSELL SYNDROME DUE TO 11P15 MICRODUPLICATION	231144 C5680917	IGF2	Unknown	20503324	Disgenet, Orphanet	MAPK signaling pathway Ras signaling pathway Hormone signaling +9 more
SILVER-RUSSELL SYNDROME DUE TO A POINT MUTATION	397590 C5681157	CDKN1C	Unknown	24065356	Disgenet, Orphanet	Cell cycle Cyclin D associated events in G1
		HMGA2	Unknown	29655892	Disgenet, Orphanet	Transcriptional misregulation in cancer MicroRNAs in cancer Formation of Senescence-Associated Heterochromatin Foci (SAHF)
		IGF2	Unknown	26154720	Disgenet, Orphanet	MAPK signaling pathway Ras signaling pathway Hormone signaling +9 more
		PLAG1	Unknown	28796236	Disgenet, Orphanet	—
SILVER-RUSSELL SYNDROME DUE TO AN IMPRINTING DEFECT OF 11P15	231140 C5680916	IGF2	Unknown	33236057	Disgenet, Orphanet	MAPK signaling pathway Ras signaling pathway Hormone signaling +9 more
SILVER-RUSSELL SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 7	96182	GRB10	Unknown	31100449	Orphanet	mTOR signaling pathway Signaling by SCF-KIT IRS activation +3 more