NACC1, nucleus accumbens associated 1, 112939

N. diseases: 34; N. variants: 1
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
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 		disease Disease or Syndrome 1 1 0.700 strong 1.000 1 1 2017 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 3 1 2014 2017
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 0 1
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 24 25 0.100 None 0 1
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 11 12 0.100 None 0 1
CUI: C2673410
Disease: Small midface
Small midface 		phenotype Finding 23 24 0.100 None 0 1
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype Behavior and Behavior Mechanisms Mental Process 12 14 0.100 None 0 1
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia 		phenotype Finding 2 2 0.100 None 0 1
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		disease Disease or Syndrome 17 19 0.100 None 0 1
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		phenotype Finding 6 8 0.100 None 0 1
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 21 22 0.100 None 0 1
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		disease Disease or Syndrome 3 9 0.100 None 0 1
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 8 0.100 None 0 1
CUI: C4023634
Disease: Echogenic intracardiac focus
Echogenic intracardiac focus 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 21 27 0.100 None 0 1
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 0 1
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype Finding 13 17 0.100 None 0 1
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 9 13 0.100 None 0 1
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		phenotype Finding 5 6 0.100 None 0 1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 74 93 0.100 None 0 1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 63 92 0.100 None 0 1
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 18 0.100 None 0 1
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 8 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 0 1
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 14 14 0.100 None 0 1