Name

FMTLE Gene

Epilepsy, familial mesial temporal lobe

ETL6 Gene

Epilepsy, familial temporal lobe, 6

ETL2 Gene

epilepsy, familial temporal lobe

BFIS1 Gene

benign familial infantile convulsions

BFIS4 Gene

Convulsions, benign familial infantile, 4

BFIC2 Gene

Benign familial infantile convulsions-2

ETL4 Gene

epilepsy, occipitotemporal lobe, and migraine with aura

KNDC1 Gene

kinase non-catalytic C-lobe domain (KIND) containing 1

The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]

ENFL2 Gene

Epilepsy, nocturnal frontal lobe, type 2

ECB2 Gene

erythrocytosis, autosomal recessive benign 2

BRV2 Gene

Vertigo, benign recurrent, 2

TELAB1 Gene

telangiectasia, benign 1

DKBI Gene

Dyskeratosis, hereditary benign intraepithelial

AAA1 Gene

aortic aneurysm, familial abdominal 1

AAA3 Gene

Aneurysm, familial abdominal 3

AAA2 Gene

Aortic aneurysm, familial abdominal 2

AAA4 Gene

Aortic aneurysm, familial abdominal, 4

RCM2 Gene

cardiomyopathy, familial restrictive, 2

ATFB8 Gene

Atrial fibrillation, familial, 8

HNFJ3 Gene

Hyperuricemic nephropathy, familial juvenile, 3

GPSC Gene

gliosis, familial progressive subcortical

BHD Gene

Beukes familial hip dysplasia

FAME4 Gene

Epilepsy, familial adult myoclonic, 4

FAME3 Gene

Epilepsy, familial adult myoclonic, 3

PFHB2 Gene

Progressive familial heart block, type II

HBN1 Gene

Progressive familial heart block, type I, locus 1

FHII Gene

Hyperaldosteronism, familial, type II

FCMTE2 Gene

familial cortical myoclonic tremor with epilepsy 2

FCMTE1 Gene

familial cortical myoclonic tremor with epilepsy 1

GLM4 Gene

Glioma, familial, 1

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

VVS Gene

Syncope, familial vasovagal

ATFB1 Gene

Atrial fibrillation, familial 1

ATFB2 Gene

familial atrial fibrillation 2

SXI2 Gene

X inactivation, familial skewed, 2

STUT3 Gene

Stuttering, familial persistent, 3

STUT2 Gene

Stuttering, familial persistent 2

STUT1 Gene

Stuttering, familial persistent 1

STUT4 Gene

Stuttering, familial persistent, 4

BRCD1 Gene

cancer, familial, with in vitro radioresistance

MGR2 Gene

Migraine, familial typical, susceptibility to

MGR3 Gene

Migraine, familial, with or without aura, susceptibility to

MFT2 Gene

Trichoepithelioma, multiple familial, 2

FEB9 Gene

Febrile convulsions, familial, 9

ATFB5 Gene

Atrial fibrillation, familial, 5

HTGS Gene

Hypertriglyceridemia, familial

DIP Gene

interstitial pneumonitis, desquamative, familial

CMH21 Gene

Cardiomyopathy, familial hypertrophic, 21

CANDF1 Gene

candidiasis, familial 1

ATPLS Gene

antiphospholipid syndrome, familial

EOS Gene

eosinophilia, familial

FEB10 Gene

Febrile convulsions, familial, 10

LVNC2 Gene

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

THCYTX Gene

Thrombocytosis, familial X-linked

CMS1A1 Gene

myasthenia gravis, familial infantile, 1

BPPV Gene

vestibulopathy, familial

AAT2 Gene

Aortic aneurysm, familial thoracic 2

AAT1 Gene

Aortic aneurysm, familial thoracic 1

NKCD Gene

Natural killer cell deficiency, familial isolated