Harmonizome 3.0

benign familial infantile convulsions

Convulsions, benign familial infantile, 4

Benign familial infantile convulsions-2

Febrile convulsions, familial, 9

Febrile convulsions, familial, 10

myasthenia gravis, familial infantile, 1

Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

paroxysmal nonkinesigenic dyskinesia 2

paroxysmal nonkinesigenic dyskinesia

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)

febrile convulsions 7

febrile convulsions 1

febrile convulsions 2

febrile convulsions 5

febrile convulsions 6

Nystagmus 5, infantile periodic alternating

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

polycystic kidney disease, infantile severe, with tuberous sclerosis

Infantile myoclonic epilepsy

glaucoma 3, primary infantile, B

Pyloric stenosis, infantile hypertrophic, 2

Pyloric stenosis, infantile hypertrophic, 5

Pyloric stenosis, infantile hypertrophic, 4

Pyloric stenosis, infantile hypertrophic, 3

aortic aneurysm, familial abdominal 1

Aneurysm, familial abdominal 3

Aortic aneurysm, familial abdominal 2

Aortic aneurysm, familial abdominal, 4

Epilepsy, familial temporal lobe, 6

cardiomyopathy, familial restrictive, 2

Atrial fibrillation, familial, 8

Hyperuricemic nephropathy, familial juvenile, 3

gliosis, familial progressive subcortical

Beukes familial hip dysplasia

Epilepsy, familial adult myoclonic, 4

Epilepsy, familial adult myoclonic, 3

Progressive familial heart block, type II

Progressive familial heart block, type I, locus 1

epilepsy, familial temporal lobe

Hyperaldosteronism, familial, type II

familial cortical myoclonic tremor with epilepsy 2

familial cortical myoclonic tremor with epilepsy 1

Glioma, familial, 1

Pseudohyperkalemia, familial, 2, due to red cell leak

Syncope, familial vasovagal

Atrial fibrillation, familial 1

familial atrial fibrillation 2

X inactivation, familial skewed, 2

Epilepsy, familial mesial temporal lobe

Stuttering, familial persistent, 3

Stuttering, familial persistent 2

Stuttering, familial persistent 1

Stuttering, familial persistent, 4

cancer, familial, with in vitro radioresistance

Migraine, familial typical, susceptibility to

Migraine, familial, with or without aura, susceptibility to

Trichoepithelioma, multiple familial, 2

Atrial fibrillation, familial, 5

Hypertriglyceridemia, familial

interstitial pneumonitis, desquamative, familial

Cardiomyopathy, familial hypertrophic, 21

candidiasis, familial 1

antiphospholipid syndrome, familial

eosinophilia, familial

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

Thrombocytosis, familial X-linked

vestibulopathy, familial

Aortic aneurysm, familial thoracic 2

Aortic aneurysm, familial thoracic 1

Natural killer cell deficiency, familial isolated