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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
PAK1
(HGNC:8590)
|
intellectual developmental disorder with macrocephaly, seizures, and speech delay
(MONDO_0032568)
|
Strong
|
|
|
PAH
(HGNC:8582)
|
mild hyperphenylalaninemia
(MONDO_0019335)
|
Definitive
|
|
|
PAH
(HGNC:8582)
|
classic phenylketonuria
(MONDO_0019259)
|
Definitive
|
|
|
PAH
(HGNC:8582)
|
mild phenylketonuria
(MONDO_0019258)
|
Strong
|
|
|
PAH
(HGNC:8582)
|
maternal phenylketonuria
(MONDO_0016366)
|
Moderate
|
|
|
ATP6V1B2
(HGNC:854)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
PAH
(HGNC:8582)
|
phenylketonuria
(MONDO_0009861)
|
Definitive
|
|
|
ATP6V1B2
(HGNC:854)
|
Zimmermann-Laband syndrome 2
(MONDO_0014646)
|
Moderate
|
|
|
ATP6V1B2
(HGNC:854)
|
autosomal dominant deafness - onychodystrophy syndrome
(MONDO_0007420)
|
Strong
|
|
|
ATP6V1B2
(HGNC:854)
|
Zimmermann-Laband syndrome
(MONDO_0000200)
|
Moderate
|
|
|
BLOC1S6
(HGNC:8549)
|
Hermansky-Pudlak syndrome 9
(MONDO_0013606)
|
Moderate
|
|
|
P4HB
(HGNC:8548)
|
Cole-Carpenter syndrome
(MONDO_0016085)
|
Moderate
|
|
|
P4HB
(HGNC:8548)
|
Cole-Carpenter syndrome 1
(MONDO_0007204)
|
Moderate
|
|
|
P4HA2
(HGNC:8547)
|
myopia
(MONDO_0001384)
|
Moderate
|
|
|
ATP6V1B1
(HGNC:853)
|
autosomal recessive distal renal tubular acidosis
(MONDO_0018440)
|
Strong
|
|
|
P2RX6
(HGNC:8538)
|
myopathy
(MONDO_0005336)
|
Limited
|
|
|
OXCT1
(HGNC:8527)
|
succinyl-CoA:3-ketoacid CoA transferase deficiency
(MONDO_0009492)
|
Strong
|
|
|
ATP6V1A
(HGNC:851)
|
autosomal recessive cutis laxa type 2D
(MONDO_0027451)
|
Moderate
|
|
|
ATP6V1A
(HGNC:851)
|
developmental and epileptic encephalopathy 93
(MONDO_0020632)
|
Strong
|
|
|
OTOF
(HGNC:8515)
|
autosomal recessive nonsyndromic hearing loss 9
(MONDO_0010986)
|
Definitive
|
|