|
ALX4
(HGNC:450)
|
parietal foramina 2
(MONDO_0012309)
|
Moderate
|
|
|
GABBR2
(HGNC:4507)
|
neurodevelopmental disorder with poor language and loss of hand skills
(MONDO_0060659)
|
Moderate
|
|
|
ALX3
(HGNC:449)
|
frontorhiny
(MONDO_0007636)
|
Strong
|
|
|
GRIK2
(HGNC:4580)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Limited
|
|
|
GRID2
(HGNC:4576)
|
autosomal recessive spinocerebellar ataxia 18
(MONDO_0014530)
|
Moderate
|
|
|
GRHPR
(HGNC:4570)
|
primary hyperoxaluria type 2
(MONDO_0009824)
|
Definitive
|
|
|
GPR68
(HGNC:4519)
|
amelogenesis imperfecta type 2
(MONDO_0015048)
|
Moderate
|
|
|
ADGRG1
(HGNC:4512)
|
bilateral frontoparietal polymicrogyria
(MONDO_0011738)
|
Definitive
|
|
|
SETX
(HGNC:445)
|
distal hereditary motor neuropathy
(MONDO_0018894)
|
Limited
|
|
|
SETX
(HGNC:445)
|
amyotrophic lateral sclerosis type 4
(MONDO_0011223)
|
Strong
|
|
|
GPAA1
(HGNC:4446)
|
glycosylphosphatidylinositol biosynthesis defect 15
(MONDO_0060627)
|
Moderate
|
|
|
GPC4
(HGNC:4452)
|
Keipert syndrome
(MONDO_0009720)
|
Strong
|
|
|
GPC6
(HGNC:4454)
|
autosomal recessive omodysplasia
(MONDO_0009779)
|
Limited
|
|
|
ALS2
(HGNC:443)
|
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
|
Strong
|
|
|
GP1BB
(HGNC:4440)
|
Bernard-Soulier syndrome
(MONDO_0009276)
|
Strong
|
|
|
ALS2
(HGNC:443)
|
infantile-onset ascending hereditary spastic paralysis
(MONDO_0011797)
|
Strong
|
|
|
ALS2
(HGNC:443)
|
juvenile primary lateral sclerosis
(MONDO_0011663)
|
Strong
|
|
|
ALS2
(HGNC:443)
|
amyotrophic lateral sclerosis type 2, juvenile
(MONDO_0008780)
|
Strong
|
|
|
GP1BA
(HGNC:4439)
|
autosomal dominant macrothrombocytopenia
(MONDO_0015372)
|
Strong
|
|
|
GOSR2
(HGNC:4431)
|
progressive myoclonic epilepsy type 6
(MONDO_0013526)
|
Strong
|
|