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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
SRD5A3
(HGNC:25812)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
USB1
(HGNC:25792)
|
dyskeratosis congenita
(MONDO_0015780)
|
Moderate
|
|
|
USB1
(HGNC:25792)
|
poikiloderma with neutropenia
(MONDO_0011405)
|
Definitive
|
|
|
MTHFSD
(HGNC:25778)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
TCTN2
(HGNC:25774)
|
Joubert syndrome
(MONDO_0018772)
|
Moderate
|
|
|
SMG9
(HGNC:25763)
|
heart and brain malformation syndrome
(MONDO_0014833)
|
Moderate
|
|
|
TCTN2
(HGNC:25774)
|
Meckel syndrome, type 1
(MONDO_0009571)
|
Strong
|
|
|
MUL1
(HGNC:25762)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
LAS1L
(HGNC:25726)
|
X-linked intellectual disability
(MONDO_0100284)
|
Limited
|
|
|
LAS1L
(HGNC:25726)
|
autosomal recessive distal spinal muscular atrophy 1
(MONDO_0011436)
|
Limited
|
|
|
FN3KRP
(HGNC:25700)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
KCTD17
(HGNC:25705)
|
myoclonic dystonia 11
(MONDO_0008044)
|
Moderate
|
|
|
GORAB
(HGNC:25676)
|
geroderma osteodysplastica
(MONDO_0009271)
|
Strong
|
|
|
WDR33
(HGNC:25651)
|
premature menopause
(MONDO_0001119)
|
Limited
|
|
|
ACOXL
(HGNC:25621)
|
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
|
Limited
|
|
|
ATAD3A
(HGNC:25567)
|
Harel-Yoon syndrome
(MONDO_0014958)
|
Strong
|
|
|
TMEM39A
(HGNC:25600)
|
multiple sclerosis
(MONDO_0005301)
|
Limited
|
|
|
OGFOD1
(HGNC:25585)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
SMG8
(HGNC:25551)
|
Alzahrani-Kuwahara syndrome
(MONDO_0859136)
|
Moderate
|
|
|
CUL4B
(HGNC:2555)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|