DisGeNET - a database of gene-disease associations

ODAPH, odontogenesis associated phosphoprotein, 152816

N. diseases: 6; N. variants: 5

Disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 ×

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs146645381

1.000

75564364

stop gained

G/A

snv

2.0E-05

3.5E-05

CUI:	C3553830
Disease:	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

0.700

dbSNP:

rs1560558455

1.000

75556133

frameshift variant

GGTAAC/ATGCTGGTTACTGGTA

delins

CUI:	C3553830
Disease:	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

0.700

dbSNP:

rs1560562630

1.000

75564112

splice acceptor variant

A/T

snv

CUI:	C3553830
Disease:	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

0.700

dbSNP:

rs1560562738

1.000

75564175

stop gained

C/A

snv

CUI:	C3553830
Disease:	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

0.700

dbSNP:

rs866941536

1.000

75564275

stop gained

C/T

snv

8.0E-06

CUI:	C3553830
Disease:	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

0.700