DisGeNET - a database of gene-disease associations

LZTR1, leucine zipper like transcription regulator 1, 8216

N. diseases: 152; N. variants: 44

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1223430276

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

30368668

2019

dbSNP:

rs1223430276

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

CLINVAR

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

30368668

2019

dbSNP:

rs1223430276

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.

29959388

2019

dbSNP:

rs1223430276

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

30481304

2019

dbSNP:

rs587777177

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

30481304

2019

dbSNP:

rs587777178

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

30481304

2019

dbSNP:

rs587777180

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

30481304

2019

dbSNP:

rs762834512

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C1854469
Disease:

Noonan Syndrome 2

0.800

GeneticVariation

UNIPROT

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

30481304

2019

dbSNP:

rs762834512

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C1854469
Disease:

Noonan Syndrome 2

0.800

GeneticVariation

UNIPROT

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

30368668

2019

dbSNP:

rs797045165

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

30368668

2019

dbSNP:

rs797045165

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.

29959388

2019

dbSNP:

rs797045165

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

30481304

2019

dbSNP:

rs797045165

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

30481304

2019

dbSNP:

rs797045166

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

30368668

2019

dbSNP:

rs797045166

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

30481304

2019

dbSNP:

rs797045166

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.

29959388

2019

dbSNP:

rs1223430276

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

LZTR1 is a regulator of RAS ubiquitination and signaling.

30442766

2018

dbSNP:

rs1223430276

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C4225280
Disease:

NOONAN SYNDROME 10

0.800

GeneticVariation

UNIPROT

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

30442762

2018

dbSNP:

rs587777177

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

30442762

2018

dbSNP:

rs587777177

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

LZTR1 is a regulator of RAS ubiquitination and signaling.

30442766

2018

dbSNP:

rs587777178

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

30442762

2018

dbSNP:

rs587777178

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

LZTR1 is a regulator of RAS ubiquitination and signaling.

30442766

2018

dbSNP:

rs587777180

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

30442762

2018

dbSNP:

rs587777180

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C3810283
Disease:

SCHWANNOMATOSIS 2

0.800

GeneticVariation

UNIPROT

LZTR1 is a regulator of RAS ubiquitination and signaling.

30442766

2018

dbSNP:

rs762834512

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C1854469
Disease:

Noonan Syndrome 2

0.800

GeneticVariation

UNIPROT

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

29469822

2018