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
KIF7
(HGNC:30497)
acrocallosal syndrome
(MONDO_0008708)
 Strong
PIGP
(HGNC:3046)
developmental and epileptic encephalopathy, 55
(MONDO_0033364)
 Limited
SHROOM3
(HGNC:30422)
neural tube defect
(MONDO_0018075)
 Limited
AEBP1
(HGNC:303)
Ehlers-Danlos syndrome, classic-like, 2
(MONDO_0054813)
 Strong
DSCAM
(HGNC:3039)
autism spectrum disorder
(MONDO_0005258)
 Limited
IFT172
(HGNC:30391)
Jeune syndrome
(MONDO_0018770)
 Limited
IFT172
(HGNC:30391)
short-rib thoracic dysplasia 9 with or without polydactyly
(MONDO_0009964)
 Moderate
SCAMP5
(HGNC:30386)
epilepsy
(MONDO_0005027)
 Moderate
KLHL40
(HGNC:30372)
nemaline myopathy 8
(MONDO_0014138)
 Strong
POLR3B
(HGNC:30348)
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
(MONDO_0013722)
 Moderate
ATN1
(HGNC:3033)
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
(MONDO_0032781)
 Limited
RIC3
(HGNC:30338)
Parkinson disease
(MONDO_0005180)
 Disputed
ARHGEF28
(HGNC:30322)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
RGS9BP
(HGNC:30304)
bradyopsia
(MONDO_0012033)
 Limited
DRD5
(HGNC:3026)
attention deficit-hyperactivity disorder
(MONDO_0007743)
 Limited
PYCR2
(HGNC:30262)
hypomyelinating leukodystrophy 10
(MONDO_0014632)
 Strong
PNPO
(HGNC:30260)
pyridoxal phosphate-responsive seizures
(MONDO_0012407)
 Strong
TUSC3
(HGNC:30242)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Moderate
WLS
(HGNC:30238)
Zaki syndrome
(MONDO_0859209)
 Moderate
CC2D1A
(HGNC:30237)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Strong
Showing 1941–1960 of 6699