DisGeNET - a database of gene-disease associations

CRB2, crumbs cell polarity complex component 2, 286204

N. diseases: 42; N. variants: 11

Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 ×

The Variant filter does not apply in GDA tabs

Source: ALL

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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:	C4015555
Disease:	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9

0.600

Biomarker

disease

GENOMICS_ENGLAND

Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.

29473663

2018

CUI:	C4015555
Disease:	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9

0.600

GeneticVariation

disease

UNIPROT

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

25557779

2015

CUI:	C4015555
Disease:	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9

0.600

CausalMutation

disease

CLINVAR

CUI:	C4015555
Disease:	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9

0.600

Biomarker

disease

GENOMICS_ENGLAND