DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Menkes Kinky Hair Syndrome ×

Variants associated to the Gene: ATP7A ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	Num. diseases
rs797045400	ATP7A ; PGK1	1.000	0.160	X	77989498	frameshift variant	G/-	del		1
rs797045399	ATP7A ; PGK1	1.000	0.160	X	77988719	stop gained	C/T	snv	5.5E-06	1
rs797045398	PGK1 ; ATP7A	1.000	0.160	X	78045577	splice region variant	G/A	snv		1
rs797045397	ATP7A ; PGK1	0.882	0.240	X	77988541	frameshift variant	AG/-	delins		3
rs797045396	PGK1 ; ATP7A	1.000	0.160	X	78045533	missense variant	C/T	snv		1
rs797045395	PGK1 ; ATP7A	1.000	0.160	X	78045477	frameshift variant	-/A	delins		1
rs797045394	ATP7A ; PGK1	1.000	0.160	X	78043434	missense variant	G/A	snv		1
rs797045393	PGK1 ; ATP7A	1.000	0.160	X	78043435	splice donor variant	G/A	snv		1
rs797045392	ATP7A ; PGK1	1.000	0.160	X	78043322	inframe deletion	TCT/-	delins		1
rs797045391	ATP7A ; PGK1	1.000	0.160	X	78042789	splice donor variant	G/T	snv		1
rs797045390	PGK1 ; ATP7A	1.000	0.160	X	78042726	missense variant	G/A	snv		1
rs797045389	PGK1 ; ATP7A	1.000	0.160	X	78042700	frameshift variant	C/-	delins		1
rs797045388	ATP7A ; PGK1	1.000	0.160	X	78042703	missense variant	C/G	snv		1
rs797045387	PGK1 ; ATP7A	1.000	0.160	X	78040737	splice region variant	A/G;T	snv		1
rs797045386	ATP7A ; PGK1	1.000	0.160	X	78040734	splice donor variant	G/T	snv		1
rs797045385	PGK1 ; ATP7A	1.000	0.160	X	78040732	missense variant	A/T	snv		1
rs797045384	ATP7A ; PGK1	1.000	0.160	X	78040707	frameshift variant	AA/TTAC	delins		1
rs797045383	ATP7A ; PGK1	1.000	0.160	X	78040706	stop gained	T/ATGACTGG	delins		1
rs797045382	PGK1 ; ATP7A	1.000	0.160	X	78040696	missense variant	G/A	snv		1
rs797045380	ATP7A ; PGK1	1.000	0.160	X	78038859	frameshift variant	A/-	delins		1
rs797045379	PGK1 ; ATP7A	1.000	0.160	X	78033812	stop gained	C/T	snv		1
rs797045378	ATP7A ; PGK1	1.000	0.160	X	78033776	stop gained	C/T	snv		1
rs797045377	PGK1 ; ATP7A	1.000	0.160	X	78033689	stop gained	G/T	snv		1
rs797045376	ATP7A ; PGK1	1.000	0.160	X	78033662	missense variant	G/T	snv		1
rs797045375	PGK1 ; ATP7A	1.000	0.160	X	78033650	frameshift variant	G/-	del		1