Ankyrin-B (N105/13, N105/17) 
LONG QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 

Ataxin-1 (N76/3, N76/8) 
SPINOCEREBELLAR ATAXIA 1 

CASK (K56A/50) 
MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA FG SYNDROME 4 
MENTAL RETARDATION, X-LINKED, CASK-RELATED 

CASPR2 (K67/25) 
CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME AUTISM, SUSCEPTIBILITY TO, TYPE 15 
PITT-HOPKINS-LIKE SYNDROME TYPE 1 CNGA1 (L36/12) RETINITIS PIGMENTOSA 49 

CNGA3 (L36/12) 
ROD MONOCHROMACY 

Cav1.2 (L57/46) 
TIMOTHY SYNDROME BRUGADA SYNDROME 3 

Cav3.2 (N55/10) 
SUSCEPTIBILITY TO CHILDHOOD ABSENCE EPILEPSY, TYPE 6 
SUSCEPTIBILITY TO IDIOPATHIC GENERALIZED EPILEPSY, TYPE 6 

Cav beta2 (N8B/1) 
BRUGADA SYNDROME 4 

Cav beta4 (N10/7) 
SUSCEPTIBILITY TO JUVENILE MYOCLONIC EPILEPSY, TYPE 6 
SUSCEPTIBILITY TO GENERALIZED IDIOPATHIC EPILEPSY, TYPE 9 

Clcn5 (N237/24) 
DENT DISEASE TYPE 1 
NEPHROLITHIASIS, X-LINKED RECESSIVE 
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

Contactin (K73/20) 
MYOPATHY, CONGENITAL, COMPTON-NORTH 

Copper Atpase 1 (L60/4) 
MENKES DISEASE, MILD 
CUTIS LAXA, X-LINKED 
MENKES DISEASE MENKES DISEASE, COPPER-REPLACEMENT RESPONSIVE 
OCCIPITAL HORN SYNDROME 

Copper Atpase 2 (L62/29) 
WILSON DISEASE 

Dardarin/LRRK2 (N138/6) 
PARKINSON DISEASE 8 
SUSCEPTIBILITY TO PARKINSON DISEASE 

Dicer (N167/7) 
PLEUROPULMONARY BLASTOMA 

Dopamine D2 receptor (N186/29) 
MYOCLONUS-DYSTONIA SYNDROME 

FGF14 (N56/21) 
SPINOCEREBELLAR ATAXIA 27 

Fig4 (N202/7) 
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 
AMYOTROPHIC LATERAL SCLEROSIS 11 

Frataxin (N191/7) 
FRIEDREICH ATAXIA 

GABA-A receptor alpha1 (N95/35) 
SUSCEPTIBILITY TO JUVENILE MYOCLONIC EPILEPSY, TYPE 5 
SUSCEPTIBILITY TO CHILDHOOD ABSENCE EPILEPSY, TYPE 4 

GABA-A receptor beta3 (N87/25) 
INSOMNIA 
SUSCEPTIBILITY TO CHILDHOOD ABSENCE EPILEPSY, TYPE 5 

GABA-A receptor delta (N151/3) 
SUSCEPTIBILITY TO GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5 

GABA-B receptor 2 (N81/2, N81/37) 
SUSCEPTIBILITY TO NICOTINE DEPENDENCE 
PROTECTION AGAINST NICOTINE DEPENDENCE 

GFAP (N206A/8) 
ALEXANDER DISEASE 

Gs alpha (N192/12) 
PSEUDOHYPOPARATHYROIDISM, TYPE IA 
MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC 
PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC 
PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC 
PSEUDOPSEUDOHYPOPARATHYROIDISM 
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS 
OSSEOUS HETEROPLASIA, PROGRESSIVE 
PSEUDOHYPOPARATHYROIDISM, TYPE IB 
PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION 
PSEUDOHYPOPARATHYROIDISM, TYPE IC 

HCN4 (N114/10) 
SICK SINUS SYNDROME TYPE 2, AUTOSOMAL DOMINANT 
BRUGADA SYNDROME 8 

IP3 receptor type 1 (L24/18) 
SPINOCEREBELLAR ATAXIA 15 

KCNQ1 (N37A/10) 
LONG QT SYNDROME 1 
JERVELL AND LANGE-NIELSEN SYNDROME 1 
LONG QT SYNDROME 1, RECESSIVE 
FAMILIAL ATRIAL FIBRILLATION, TYPE 3 
SHORT QT SYNDROME 2 
LONG QT SYNDROME 1/2, DIGENIC 

KCNQ2 (N26A/23) 
BENIGN NEONATAL EPILEPSY, TYPE 1 
BENIGN NEONATAL EPILEPSY, TYPE 1 AND/OR MYOKYMIA 

KCNQ4 (N43/6) 
DEAFNESS, AUTOSOMAL DOMINANT TYPE 2A 

Kir2.1 (N112B/14) 
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS 
SHORT QT SYNDROME 3 

Kv1.1 (K20/78, K36/15) 
EPISODIC ATAXIA, TYPE 1 
MYOKYMIA 1 
MYOKYMIA 1 WITH HYPOMAGNESEMIA 

Kv1.5 (K7/45) 
ATRIAL FIBRILLATION, FAMILIAL, TYPE 7 

Laforin (N84/1) 
PROGRESSIVE MYOCLONIC EPILEPSY, TYPE 2A 

MMACHC (N230/21) 
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE 

MMP9 (L51/82) 
METAPHYSEAL ANADYSPLASIA 2, AUTOSOMAL RECESSIVE 

Malin (N85/18) 
PROGRESSIVE MYOCLONIC EPILEPSY, TYPE 2B 

Mfn2 (N153/5) 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 
HEREDITARY MOTOR AND SENSORY NEUROPATHY VI 

Nav1.1 (K74/71) 
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 
SEVERE MYOCLONIC EPILEPSY OF INFANCY 
FAMILIAL HEMIPLEGIC MIGRAINE, TYPE 3 
INTRACTABLE CHILDHOOD EPILEPSY, WITH GENERALIZED TONIC-CLONIC SEIZURES 
FAMILIAL FEBRILE CONVULSIONS, TYPE 3A 

Nav1.2 (K69/3) 
FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES 
BENIGN FAMILIAL INFANTILE CONVULSIONS, TYPE 3 

Nav1.6 (K87A/10) 
CEREBELLAR ATROPHY, ATAXIA, AND MENTAL RETARDATION 

Nav1.7 (N68/6) ERYTHERMALGIA, PRIMARY 
CHANNELOPATHY-ASSOCIATED INSENSITIVITY TO PAIN 
PAROXYSMAL EXTREME PAIN DISORDER 
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 
FAMILIAL FEBRILE CONVULSIONS, TYPE 3B 

Nav beta4 (N168/6) 
LONG QT SYNDROME 10 

Neurexin-1 (N170A/1, N170A/26) 
PITT-HOPKINS-LIKE SYNDROME TYPE 2 

Neuroligin-3 (N110/29) 
SUSCEPTIBILITY TO AUTISM, X-LINKED, TYPE 1 
SUSCEPTIBILITY TO ASPERGER SYNDROME, X-LINKED, TYPE 1 

Neuroligin-4 (N98/7, N98/47) 
SUSCEPTIBILITY TO AUTISM, X-LINKED, TYPE 2 
SUSCEPTIBILITY TO ASPERGER SYNDROME, X-LINKED, TYPE 2 
MENTAL RETARDATION, X-LINKED 

OCRL (N166A/26) 
LOWE OCULOCEREBRORENAL SYNDROME DENT DISEASE TYPE 2 

PhyH/PAHX (N210/5) 
REFSUM DISEASE, ADULT, TYPE 1 

Pink1 (N4/15, N4/49) 
PARKINSON DISEASE TYPE 6, AUTOSOMAL RECESSIVE EARLY-ONSET 
PARKINSON DISEASE TYPE 6, EARLY-ONSET 
PARKINSON DISEASE TYPE 6, LATE-ONSET, SUSCEPTIBILITY TO 
PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1 

SAP102 (N19/2) 
MENTAL RETARDATION, X-LINKED TYPE 90 

Shank3 (N69/46) 
CHROMOSOME 22q13.3 DELETION SYNDROME 

Slo1 (L6/60) 
GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 

Tafazzin (N173B/13) 
BARTH SYNDROME 
CARDIOMYOPATHY, DILATED, TYPE 3A 
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED 
LEFT VENTRICULAR NONCOMPACTION, ISOLATED 

TrpM7 (N74/25) 
SUSCEPTIBILITY TO AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX TYPE 1 

VGlut3 (N34/34) 
DEAFNESS, AUTOSOMAL DOMINANT TYPE 25