Lymphatic malformation | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
LYMPHATIC MALFORMATION	MONDO:0019313	FLT4	Unknown	20301417	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +6 more
		GJC2	Unknown	20537300 21266381	GWAS catalog	Gap junction assembly
		VEGFC	Unknown	23410910	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +10 more
LYMPHATIC MALFORMATION 1	153100 MONDO:0007919	FLT4	Unknown	10835628 16924388 12960217 16965327 19289394 10856194	ClinGen, ClinVar, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +6 more
LYMPHATIC MALFORMATION 10	619369 C5543531 MONDO:0023662	ANGPT2	Causal	32908006	ClinVar, Disgenet, GWAS catalog, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +4 more
LYMPHATIC MALFORMATION 10	619369 C5543531 MONDO:0023662	MCPH1	Unknown	—	Disgenet	Condensation of Prophase Chromosomes
LYMPHATIC MALFORMATION 11	619401 C5543614 MONDO:0030316	TIE1	Causal	24764452 32947856 38820174	ClinVar, Disgenet, GWAS catalog, HPO	—
LYMPHATIC MALFORMATION 12	620014 C5774203 MONDO:0031043	MDFIC	Causal	35235341	CTD, ClinVar, Disgenet, HPO	Viral life cycle - HIV-1
LYMPHATIC MALFORMATION 13	620244 C5830279 MONDO:0859379	THSD1	Causal	26036949 30055085	ClinVar, Disgenet, GWAS catalog, HPO	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
LYMPHATIC MALFORMATION 14	620602 C5882718 MONDO:0957954	ERG	Causal	—	ClinVar, Disgenet, GenCC, HPO	Transcriptional misregulation in cancer Prostate cancer
LYMPHATIC MALFORMATION 3	613480 C4747646 MONDO:0013278 OMIM:613480	GJC2	Causal	20537300 21266381	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Gap junction assembly
LYMPHATIC MALFORMATION 4	615907 C4747769 MONDO:0014393 OMIM:615907	VEGFC	Causal	14634646 23410910 24744435 25260786	CTD, ClinVar, Disgenet, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +10 more
LYMPHATIC MALFORMATION 6	616843 MONDO:0014797 OMIM:616843	PIEZO1	Causal	—	CTD, ClinVar, GenCC, HPO	—
LYMPHATIC MALFORMATION 7	617300 C4310629 MONDO:0015009 OMIM:617300	EPHB4	Causal	27400125 29905864	CTD, ClinVar, Disgenet, HPO	Axon guidance EPH-Ephrin signaling EPHB-mediated forward signaling +2 more
LYMPHATIC MALFORMATION 8	618773 C5231496 MONDO:0032907	CALCRL	Causal	30115739	CTD, ClinVar, Disgenet, HPO	Neuroactive ligand-receptor interaction Vascular smooth muscle contraction G alpha (s) signalling events +2 more
LYMPHATIC MALFORMATION 9	619319 C5543365 MONDO:0030270	CELSR1	Causal	26855770 31215153 31403174	ClinVar, Disgenet, GWAS catalog, HPO	—