Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT ROBINOW SYNDROME	3107 C5200540 MONDO:0008389	DVL1	Unknown	25817016	Disgenet, GenCC, Orphanet	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
		DVL3	Unknown	26924530	Disgenet, Orphanet	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
		FZD2	Unknown	29276006	Disgenet, Orphanet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +16 more
		WNT5A	Unknown	10021340 12839624 16602827 19918918 24716670 27092434 29276006 29575631 31032853 34627339 34750320 35047859 35586607	ClinGen, Disgenet, Orphanet	mTOR signaling pathway Wnt signaling pathway Axon guidance +23 more
AUTOSOMAL DOMINANT ROBINOW SYNDROME 1	MONDO:0024455	DVL1	Causal	—	ClinVar	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
AUTOSOMAL DOMINANT ROBINOW SYNDROME 1	MONDO:0024455	WNT5A	Causal	19918918 5771504	ClinVar, GWAS catalog	mTOR signaling pathway Wnt signaling pathway Axon guidance +23 more
AUTOSOMAL DOMINANT ROBINOW SYNDROME 2	MONDO:0014591	DVL1	Causal	25817016	ClinVar, GWAS catalog	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
AUTOSOMAL DOMINANT ROBINOW SYNDROME 3	MONDO:0014819	DVL3	Causal	26924530	ClinVar	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
AUTOSOMAL RECESSIVE ROBINOW SYNDROME	1507 MONDO:0009999	ROR2	Causal	10932187 19640924 15952209 10932186 18831060 35344616 20301418	ClinVar, GWAS catalog, Orphanet	Wnt signaling pathway WNT5A-dependent internalization of FZD2, FZD5 and ROR2
AUTOSOMAL RECESSIVE ROBINOW SYNDROME	1507 MONDO:0009999	NXN	Unknown	29276006	Disgenet, Orphanet	—
ROBINOW SORAUF SYNDROME	C1867146 MESH:C537183	TWIST1	Unknown	—	CTD, Disgenet	Proteoglycans in cancer Interleukin-4 and Interleukin-13 signaling Regulation of RUNX2 expression and activity
ROBINOW SYNDROME	C0265205 MESH:C562492	DVL1	Unknown	—	CTD, Disgenet	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
		DVL3	Unknown	—	CTD, Disgenet	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
		WNT5A	Unknown	—	CTD, Disgenet	mTOR signaling pathway Wnt signaling pathway Axon guidance +23 more
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1	180700 C4551475	DVL1	Unknown	—	Disgenet, HPO	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
		DVL3	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
		FZD2	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +16 more
		WNT5A	Unknown	19918918 5771504	Disgenet, HPO	mTOR signaling pathway Wnt signaling pathway Axon guidance +23 more
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	C4225363 616331	CHN1	Unknown	—	Disgenet	Rho GTPase cycle
		DVL1	Unknown	25817016	Disgenet, HPO	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
		DVL3	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
		FZD2	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +16 more
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3	616894 C4225164	DVL3	Unknown	26924530	Disgenet, HPO	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +18 more
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3	616894 C4225164	FZD2	Unknown	29383834 25759469 29383830 30455931 29230162	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +16 more
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	C1849334 MESH:C535863	NXN	Unknown	—	Disgenet	—
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	C1849334 MESH:C535863	ROR2	Unknown	12815588 15952209	CTD, Disgenet	Wnt signaling pathway WNT5A-dependent internalization of FZD2, FZD5 and ROR2
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1	C5399974 268310	NXN	Unknown	—	Disgenet	—
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1	C5399974 268310	ROR2	Unknown	—	Disgenet, HPO	Wnt signaling pathway WNT5A-dependent internalization of FZD2, FZD5 and ROR2
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2	618529 C5193143 MONDO:0032800	NXN	Causal	29276006 32954672 32974972 33048444	ClinVar, Disgenet, HPO	—
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS	C3151609	ROR2	Causal	—	Disgenet	Wnt signaling pathway WNT5A-dependent internalization of FZD2, FZD5 and ROR2
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY	C3151610	ROR2	Causal	10932186 10932187 15952209 18831060 19640924 35344616	Disgenet	Wnt signaling pathway WNT5A-dependent internalization of FZD2, FZD5 and ROR2
ROBINOW-SORAUF SYNDROME	180750 MONDO:0008391	TWIST1	Causal	—	ClinVar, HPO	Proteoglycans in cancer Interleukin-4 and Interleukin-13 signaling Regulation of RUNX2 expression and activity

Robinow syndrome

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