Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT ROBINOW SYNDROME	3107 C5200540 MONDO:0008389	DVL1	Unknown	25817016	Disgenet GenCC Orphanet
		DVL3	Unknown	26924530	Disgenet Orphanet
		FZD2	Unknown	29276006	Disgenet Orphanet
		WNT5A	Unknown	10021340 12839624 16602827 19918918 24716670 27092434 29276006 29575631 31032853 34627339 34750320 35047859 35586607	ClinGen Disgenet Orphanet
AUTOSOMAL DOMINANT ROBINOW SYNDROME 1	MONDO:0024455	DVL1	Causal	—	ClinVar
AUTOSOMAL DOMINANT ROBINOW SYNDROME 1	MONDO:0024455	WNT5A	Causal	19918918 5771504	ClinVar GWAS catalog
AUTOSOMAL DOMINANT ROBINOW SYNDROME 2	MONDO:0014591	DVL1	Causal	25817016	ClinVar GWAS catalog
AUTOSOMAL DOMINANT ROBINOW SYNDROME 3	MONDO:0014819	DVL3	Causal	26924530	ClinVar
AUTOSOMAL RECESSIVE ROBINOW SYNDROME	1507 MONDO:0009999	ROR2	Causal	10932187 19640924 15952209 10932186 18831060 35344616 20301418	ClinVar GWAS catalog Orphanet
AUTOSOMAL RECESSIVE ROBINOW SYNDROME	1507 MONDO:0009999	NXN	Unknown	29276006	Disgenet Orphanet
ROBINOW SORAUF SYNDROME	C1867146 MESH:C537183	TWIST1	Unknown	—	CTD Disgenet
ROBINOW SYNDROME	C0265205 MESH:C562492	DVL1	Unknown	—	CTD Disgenet
		DVL3	Unknown	—	CTD Disgenet
		WNT5A	Unknown	—	CTD Disgenet
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1	180700 C4551475	DVL1	Unknown	—	Disgenet HPO
		DVL3	Unknown	—	Disgenet
		FZD2	Unknown	—	Disgenet
		WNT5A	Unknown	—	Disgenet HPO
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	C4225363 616331	CHN1	Unknown	—	Disgenet
		DVL1	Unknown	—	Disgenet HPO
		DVL3	Unknown	—	Disgenet
		FZD2	Unknown	—	Disgenet
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3	616894 C4225164	DVL3	Unknown	—	Disgenet HPO
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3	616894 C4225164	FZD2	Unknown	—	Disgenet
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	C1849334 MESH:C535863	NXN	Unknown	—	Disgenet
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	C1849334 MESH:C535863	ROR2	Unknown	12815588 15952209	CTD Disgenet
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1	C5399974 268310	NXN	Unknown	—	Disgenet
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1	C5399974 268310	ROR2	Unknown	—	Disgenet HPO
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
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY	C3151610	ROR2	Causal	—	Disgenet
ROBINOW-SORAUF SYNDROME	180750 MONDO:0008391	TWIST1	Causal	—	ClinVar HPO

Robinow syndrome