DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1060505041 ×

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:

rs1060505041

NACC1

CUI:	C4479333
Disease:	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION

0.800

GeneticVariation

CLINVAR

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

28132692

2017

dbSNP:

rs1060505041

NACC1

CUI:	C4479333
Disease:	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION

0.800

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

28132692

2017

dbSNP:

rs1060505041

NACC1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

The contribution of de novo coding mutations to autism spectrum disorder.

25363768

2014

dbSNP:

rs1060505041

NACC1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Genome sequencing identifies major causes of severe intellectual disability.

24896178

2014

dbSNP:

rs1060505041

NACC1

CUI:	C3276623
Disease:	Toenail dysplasia

Toenail dysplasia

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C0026351
Disease:	Moderate intellectual disability

Moderate intellectual disability

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C4023634
Disease:	Echogenic intracardiac focus

Echogenic intracardiac focus

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C0267071
Disease:	Oropharyngeal Dysphagia

Oropharyngeal Dysphagia

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C1867873
Disease:	Failure to thrive in infancy

Failure to thrive in infancy

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C0424731
Disease:	Single transverse palmar crease

Single transverse palmar crease

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C3888417
Disease:	CATARACT 5, MULTIPLE TYPES

CATARACT 5, MULTIPLE TYPES

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C1853487
Disease:	Thick eyebrow

Thick eyebrow

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C1837142
Disease:	Poor suck

Poor suck

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C0016842
Disease:	Congenital pectus excavatum

Congenital pectus excavatum

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C1277241
Disease:	Delayed myelination

Delayed myelination

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C0431352
Disease:	Secondary microcephaly

Secondary microcephaly

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C3887898
Disease:	Infantile Spasm

Infantile Spasm

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C1853738
Disease:	Long eyelashes

Long eyelashes

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C4021759
Disease:	Generalized myoclonic seizures

Generalized myoclonic seizures

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505041

NACC1

CUI:	C3553450
Disease:	Profound global developmental delay

Profound global developmental delay

0.700

CausalMutation

CLINVAR