NACC1, nucleus accumbens associated 1, 112939

N. diseases: 34; N. variants: 1
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 		0.700 GeneticVariation disease CLINVAR A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 28132692 2017
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 		0.700 CausalMutation disease CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 28132692 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768 2014
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation disease CLINVAR
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation disease CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation disease CLINVAR
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 CausalMutation disease CLINVAR
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		0.100 CausalMutation disease CLINVAR
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.100 CausalMutation phenotype CLINVAR
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		0.100 CausalMutation disease CLINVAR
CUI: C0431670
Disease: Webbed penis
Webbed penis 		0.100 CausalMutation disease CLINVAR
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		0.100 CausalMutation disease CLINVAR
CUI: C0521525
Disease: Short neck
Short neck 		0.100 CausalMutation phenotype CLINVAR
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0.100 CausalMutation phenotype CLINVAR
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 CausalMutation phenotype CLINVAR
CUI: C1837142
Disease: Poor suck
Poor suck 		0.100 CausalMutation phenotype CLINVAR
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation disease CLINVAR
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		0.100 CausalMutation phenotype CLINVAR
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.100 CausalMutation phenotype CLINVAR
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.100 CausalMutation phenotype CLINVAR
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.100 CausalMutation phenotype CLINVAR