DisGeNET - a database of gene-disease associations

rs1557551678, CLDN19

N. diseases: 9

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Hypercalciuria

CUI:	C0020438
Disease:	Hypercalciuria

5

0.882

0.160

1

42738421

missense variant

C/A

snv

0.700

Hypertensive disease

CUI:	C0020538
Disease:	Hypertensive disease

1085

0.882

0.160

1

42738421

missense variant

C/A

snv

0.700

Hypocitraturia

CUI:	C2673444
Disease:	Hypocitraturia

2

0.882

0.160

1

42738421

missense variant

C/A

snv

0.700

Hypomagnesemia

CUI:	C0151723
Disease:	Hypomagnesemia

11

0.882

0.160

1

42738421

missense variant

C/A

snv

0.700

HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT

CUI:	C4721891
Disease:	HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT

4

0.882

0.160

1

42738421

missense variant

C/A

snv

0.700

Medullary nephrocalcinosis

CUI:	C0403477
Disease:	Medullary nephrocalcinosis

2

0.882

0.160

1

42738421

missense variant

C/A

snv

0.700

Polydipsia

CUI:	C0085602
Disease:	Polydipsia

5

0.882

0.160

1

42738421

missense variant

C/A

snv

0.700

Polyuria

CUI:	C0032617
Disease:	Polyuria

3

0.882

0.160

1

42738421

missense variant

C/A

snv

0.700

Severe myopia

CUI:	C0271183
Disease:	Severe myopia

116

0.882

0.160

1

42738421

missense variant

C/A

snv

0.700