DisGeNET - a database of gene-disease associations

NPHP3-ACAD11, NPHP3-ACAD11 readthrough (NMD candidate), 100532724

N. diseases: 82; N. variants: 51

Disease: Horizontal Nystagmus ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0271385
Disease:	Horizontal Nystagmus

Horizontal Nystagmus

0.100

GeneticVariation

disease

CLINVAR

CUI:	C0271385
Disease:	Horizontal Nystagmus

Horizontal Nystagmus

0.100

CausalMutation

disease

CLINVAR