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