Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
CCDC141
(HGNC:26821)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
CCDC141
(HGNC:26821)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Moderate
|
|
|
CYP4F22
(HGNC:26820)
|
lamellar ichthyosis
(MONDO_0017778)
|
Moderate
|
|
|
RILPL1
(HGNC:26814)
|
oculopharyngodistal myopathy 4
(MONDO_0030712)
|
Limited
|
|
|
WDR72
(HGNC:26790)
|
amelogenesis imperfecta
(MONDO_0019507)
|
Strong
|
|
|
WDR72
(HGNC:26790)
|
renal tubular acidosis
(MONDO_0001909)
|
Moderate
|
|
|
DARS1
(HGNC:2678)
|
hypomyelination with brain stem and spinal cord involvement and leg spasticity
(MONDO_0014115)
|
Limited
|
|
|
MTRFR
(HGNC:26784)
|
combined oxidative phosphorylation defect type 7
(MONDO_0013306)
|
Moderate
|
|
|
MTRFR
(HGNC:26784)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
CD55
(HGNC:2665)
|
protein-losing enteropathy
(MONDO_0009174)
|
Strong
|
|
|
CFAP47
(HGNC:26708)
|
polycystic kidney disease
(MONDO_0020642)
|
Limited
|
|
|
CEP120
(HGNC:26690)
|
Joubert syndrome
(MONDO_0018772)
|
Moderate
|
|
|
CEP120
(HGNC:26690)
|
Jeune syndrome
(MONDO_0018770)
|
Moderate
|
|
|
DAB1
(HGNC:2661)
|
spinocerebellar ataxia type 37
(MONDO_0014410)
|
Moderate
|
|
|
CEP120
(HGNC:26690)
|
ciliopathy
(MONDO_0005308)
|
Moderate
|
|
|
BBS12
(HGNC:26648)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Definitive
|
|
|
CFAP43
(HGNC:26684)
|
normal pressure hydrocephalus
(MONDO_0009366)
|
Limited
|
|
|
CFAP43
(HGNC:26684)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
RNF168
(HGNC:26661)
|
RIDDLE syndrome
(MONDO_0012764)
|
Moderate
|
|
|
LOXHD1
(HGNC:26521)
|
autosomal recessive nonsyndromic hearing loss 77
(MONDO_0013119)
|
Strong
|
|