|
PGM3
(HGNC:8907)
|
immunodeficiency 23
(MONDO_0014353)
|
Definitive
|
|
|
KIF1A
(HGNC:888)
|
hereditary sensory and autonomic neuropathy type 2
(MONDO_0019941)
|
Strong
|
|
|
PFN1
(HGNC:8881)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
KIF1A
(HGNC:888)
|
hereditary spastic paraplegia 30
(MONDO_0012476)
|
Definitive
|
|
|
KIF1A
(HGNC:888)
|
PEHO syndrome
(MONDO_0009841)
|
Strong
|
|
|
ATRX
(HGNC:886)
|
intellectual disability-hypotonic facies syndrome, X-linked, 1
(MONDO_0010663)
|
Strong
|
|
|
ATRX
(HGNC:886)
|
alpha thalassemia-X-linked intellectual disability syndrome
(MONDO_0010519)
|
Definitive
|
|
|
PEX7
(HGNC:8860)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Definitive
|
|
|
PEX7
(HGNC:8860)
|
adult Refsum disease
(MONDO_0009958)
|
Strong
|
|
|
PEX7
(HGNC:8860)
|
rhizomelic chondrodysplasia punctata type 1
(MONDO_0008972)
|
Definitive
|
|
|
PEX6
(HGNC:8859)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Definitive
|
|
|
PEX6
(HGNC:8859)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Definitive
|
|
|
PEX3
(HGNC:8858)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|
|
PEX16
(HGNC:8857)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Moderate
|
|
|
PEX16
(HGNC:8857)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Moderate
|
|
|
PEX14
(HGNC:8856)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|
|
PEX13
(HGNC:8855)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|
|
PEX14
(HGNC:8856)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Limited
|
|
|
PEX11B
(HGNC:8853)
|
peroxisome biogenesis disorder 14B
(MONDO_0013967)
|
Limited
|
|
|
PEX10
(HGNC:8851)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|