Knobloch syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
KNOBLOCH SYNDROME	1571 C1849409 MESH:C537209 MONDO:0009977	COL18A1	Causal	15714516 21862674	CTD, Disgenet, GenCC, Orphanet	Protein digestion and absorption Collagen degradation Activation of Matrix Metalloproteinases +5 more
		PAK2	Causal	33693784	Disgenet, Orphanet	MAPK signaling pathway ErbB signaling pathway Ras signaling pathway +20 more
		ADAMTS18	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		SLC19A1	Unknown	—	Disgenet	Antifolate resistance Vitamin digestion and absorption Folate transport and metabolism +1 more
KNOBLOCH SYNDROME 1	267750 MONDO:0800167	COL18A1	Causal	10942434 25456301 19390655 12415512 27259167 28602933 23667181	ClinGen, ClinVar, GWAS catalog, HPO	Protein digestion and absorption Collagen degradation Activation of Matrix Metalloproteinases +5 more
KNOBLOCH SYNDROME 2	618458 C5676897 MONDO:0100119	PAK2	Causal	—	ClinVar, Disgenet, GenCC, HPO	MAPK signaling pathway ErbB signaling pathway Ras signaling pathway +20 more
KNOBLOCH SYNDROME TYPE II	C1838009	PAK2	Unknown	—	Disgenet	MAPK signaling pathway ErbB signaling pathway Ras signaling pathway +20 more
KNOBLOCH SYNDROME, TYPE I	C4551775	COL18A1	Unknown	10942434 12415512 19390655 25456301 27259167 28602933	Disgenet	Protein digestion and absorption Collagen degradation Activation of Matrix Metalloproteinases +5 more
KNOBLOCH SYNDROME, TYPE I	C4551775	SLC19A1	Unknown	—	Disgenet	Antifolate resistance Vitamin digestion and absorption Folate transport and metabolism +1 more