Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
HYPERPHOSPHATASEMIA WITH INTELLECTUAL DISABILITY	C1855923	PGAP2	Unknown	—	Disgenet
		PGAP3	Unknown	—	Disgenet
		PIGL	Unknown	—	Disgenet
		PIGO	Unknown	—	Disgenet
		PIGV	Unknown	—	Disgenet
		PIGW	Unknown	—	Disgenet
		PIGY	Unknown	—	Disgenet
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1	C4551502 239300	PIGB	Unknown	—	Disgenet
		PIGG	Unknown	—	Disgenet
		PIGL	Unknown	—	Disgenet
		PIGO	Unknown	—	Disgenet
		PIGV	Unknown	—	Disgenet HPO
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2	614749 C3553637	PIGO	Unknown	—	Disgenet HPO
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3	614207 C3280153 OMIM:614207	PGAP2	Unknown	—	CTD Disgenet HPO
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4	615716 C3810354	PGAP3	Unknown	—	Disgenet HPO
	615716 C3810354	SETD5	Unknown	—	Disgenet
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6	616809 C4225201	PIGY	Unknown	—	Disgenet HPO
	616809 C4225201	PYURF	Unknown	—	Disgenet
HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 1	MONDO:0009398	PIGV	Causal	20802478 17351347	ClinGen ClinVar Orphanet
HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 2	MONDO:0013882	PIGO	Causal	22683086	ClinVar Disgenet
HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 3	MONDO:0013628	PGAP2	Causal	—	ClinVar GenCC
HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 4	MONDO:0014318	PGAP3	Causal	24439110	ClinGen ClinVar GWAS catalog
HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 5	MONDO:0014457	PIGW	Causal	24367057 27626616 30078644 30813920	ClinGen ClinVar GWAS catalog
HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 6	MONDO:0014780	PIGY	Causal	26293662	ClinGen ClinVar Orphanet
HYPERPHOSPHATASIA WITH MENTAL RETARDATION	MESH:C565495	PGAP3	Unknown	—	CTD
		PIGO	Unknown	—	CTD
		PIGV	Unknown	20802478	CTD
		PIGW	Unknown	—	CTD
		PIGY	Unknown	—	CTD
HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME	247262 MONDO:0016596	PGAP3	Causal	24439110	CTD Orphanet
		PIGO	Causal	22683086	Disgenet Orphanet
		PIGV	Causal	24129430	GWAS catalog Orphanet
		PGAP2	Unknown	23561846 23561847	CTD Orphanet
		PIGL	Unknown	25706356	Disgenet Orphanet
		PIGW	Unknown	24367057	Disgenet Orphanet
		PIGY	Unknown	26293662	Disgenet Orphanet

Hyperphosphatasia with intellectual disability syndrome