Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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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
Showing 521–540 of 6699