Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
COWDEN DISEASE	MONDO:0016063	AKT1	Unknown	23246288	GWAS catalog
		KLLN	Unknown	21177507	GWAS catalog
		PIK3CA	Unknown	23246288	GWAS catalog
		PTEN	Unknown	neant	HPO
		SDHB	Unknown	neant	GWAS catalog
		SDHC	Unknown	21979946	GWAS catalog
		SDHD	Unknown	neant	Disgenet
		SEC23B	Unknown	26522472	Disgenet
		USF3	Unknown	28011713	CTD
COWDEN SYNDROME	201	PIK3CA	Causal	23246288	Orphanet
		PTEN	Causal	—	Orphanet
		AKT1	Unknown	23246288	Orphanet
		KLLN	Unknown	21177507	Orphanet
		SDHB	Unknown	—	Orphanet
		SDHC	Unknown	21979946	Orphanet
		SDHD	Unknown	—	Orphanet
		SEC23B	Unknown	26522472	Orphanet
		USF3	Unknown	28011713	Orphanet
COWDEN SYNDROME 1	158350 MONDO:0008021	PTEN	Causal	9832032 9241266 11536076 12471211 11238682 10353779 9140396 9425889 12844284 9467011 10777358 9259288 9832031 10051160 17286265 23160955 11748304 15805158	ClinVar GWAS catalog HPO
COWDEN SYNDROME 4	615107 C3554517 MONDO:0014046 OMIM:615107	KLLN	Unknown	—	CTD ClinVar Disgenet HPO
COWDEN SYNDROME 4	615107 C3554517 MONDO:0014046 OMIM:615107	PTEN	Unknown	—	Disgenet
COWDEN SYNDROME 5	615108 C3554518 MONDO:0014047 OMIM:615108	PIK3CA	Causal	23246288 23946963 24497998 28724667 32568377	CTD ClinVar Disgenet GenCC HPO
COWDEN SYNDROME 6	615109 C3554519 MONDO:0014048 OMIM:615109	AKT1	Causal	23246288	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
COWDEN SYNDROME 7	616858 C4225179 MONDO:0014802 OMIM:616858	SEC23B	Causal	26522472	CTD ClinVar Disgenet HPO

Cowden disease