Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
KLIPPEL FEIL SYNDROME DOMINANT TYPE	MESH:C536887	GDF6	Unknown	—	CTD
KLIPPEL FEIL SYNDROME RECESSIVE TYPE	C1859209 MESH:C536888	MEOX1	Unknown	—	CTD Disgenet
		RIPPLY2	Unknown	—	Disgenet
		RIPPLY2-CYB5R4	Unknown	—	Disgenet
KLIPPEL-FEIL ANOMALY, MYOPATHY, FACIAL DYSMORPHISM SYNDROME	C4225285	MYO18B	Unknown	—	Disgenet
KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME	447974 MONDO:0014689	MYO18B	Causal	25748484 27858739 32637634 32184166 31195167	CTD ClinGen ClinVar Orphanet
KLIPPEL-FEIL SYNDROME	C0022738 MESH:D007714	MYO18B	Causal	—	Disgenet
		GDF3	Unknown	—	Disgenet
		GDF6	Unknown	18425797	CTD Disgenet
		MEOX1	Unknown	—	Disgenet
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT	118100 MONDO:0007306	GDF6	Causal	19129173 18425797 32737436 25457163 21070663	ClinVar GWAS catalog HPO
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE	214300 MONDO:0008958	MEOX1	Causal	23290072 24073994	CTD ClinVar HPO
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT	613702 C3150967 MONDO:0013375 OMIM:613702	GDF3	Unknown	19864492 29260090	CTD ClinVar Disgenet GWAS catalog HPO
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM	616549 OMIM:616549	MYO18B	Unknown	—	CTD HPO
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	C1861689	GDF6	Unknown	—	Disgenet
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	C1861689	LRRK2	Unknown	—	Disgenet

Klippel-feil syndrome