DisGeNET - a database of gene-disease associations

Source: CLINVAR

Gene: CLN3 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs267606737

CLN3

0.882

0.120

28486427

stop gained

G/T

snv

4.0E-06

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

1.000

2009

2012

dbSNP:

rs121434286

CLN3

0.882

0.120

28482500

stop gained

C/A;T

snv

2.4E-05

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.820

1.000

1997

2015

dbSNP:

rs121434286

CLN3

0.882

0.120

28482500

stop gained

C/A;T

snv

2.4E-05

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

0.700

dbSNP:

rs121434286

CLN3

0.882

0.120

28482500

stop gained

C/A;T

snv

2.4E-05

CUI:	C4017059
Disease:	CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED

CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED

0.700

dbSNP:

rs267606737

CLN3

0.882

0.120

28486427

stop gained

G/T

snv

4.0E-06

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

0.710

1.000

2009

dbSNP:

rs267606737

CLN3

0.882

0.120

28486427

stop gained

G/T

snv

4.0E-06

CUI:	C4017059
Disease:	CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED

CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED

0.700

dbSNP:

rs386833695

CLN3

0.925

0.120

28482160

missense variant

C/T

snv

2.4E-05

2.1E-05

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

1.000

1997

2013

dbSNP:

rs386833694

CLN3

0.925

0.120

28482161

missense variant

G/A;T

snv

4.0E-06

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

0.700

1.000

1997

2009

dbSNP:

rs386833694

CLN3

0.925

0.120

28482161

missense variant

G/A;T

snv

4.0E-06

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

1.000

1997

2012

dbSNP:

rs386833695

CLN3

0.925

0.120

28482160

missense variant

C/T

snv

2.4E-05

2.1E-05

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

0.700

1.000

1997

2013

dbSNP:

rs1555468632

CLN3

0.925

0.160

28485963

splice donor variant

TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/-

delins

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

1.000

1995

2008

dbSNP:

rs386833720

CLN3

0.925

0.120

28487492

frameshift variant

C/-

delins

4.0E-06

7.0E-06

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

0.700

1.000

1997

2010

dbSNP:

rs386833740

CLN3

0.925

0.120

28482344

frameshift variant

-/T

delins

3.2E-05; 4.0E-06

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

1.000

1997

2013

dbSNP:

rs386833698

CLN3

0.925

0.120

28482102

splice region variant

T/G

snv

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

0.700

1.000

2014

dbSNP:

rs386833709

CLN3

0.925

0.120

28489298

stop gained

G/A

snv

1.4E-05

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

0.700

1.000

2012

dbSNP:

rs386833720

CLN3

0.925

0.120

28487492

frameshift variant

C/-

delins

4.0E-06

7.0E-06

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

1.000

1997

dbSNP:

rs1057516677

CLN3

0.925

0.120

28477875

stop gained

G/T

snv

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

dbSNP:

rs1057516677

CLN3

0.925

0.120

28477875

stop gained

G/T

snv

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

0.700

dbSNP:

rs1555468632

CLN3

0.925

0.160

28485963

splice donor variant

delins

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.700

dbSNP:

rs1555468634

CLN3

0.925

0.120

28485965

splice donor variant

ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-

del

CUI:	C0027877
Disease:	Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

0.700

dbSNP:

rs1555468634

CLN3

0.925

0.120

28485965

splice donor variant

del

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

dbSNP:

rs386833698

CLN3

0.925

0.120

28482102

splice region variant

T/G

snv

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

dbSNP:

rs386833709

CLN3

0.925

0.120

28489298

stop gained

G/A

snv

1.4E-05

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

dbSNP:

rs386833717

CLN3

0.925

0.160

28487537

splice acceptor variant

G/-;GGG

delins

4.0E-06

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

dbSNP:

rs386833717

CLN3

0.925

0.160

28487537

splice acceptor variant

G/-;GGG

delins

4.0E-06

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.700