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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
LHFPL5
(HGNC:21253)
autosomal recessive nonsyndromic hearing loss 67
(MONDO_0012460)
 Strong
LEMD2
(HGNC:21244)
Marbach-Rustad progeroid syndrome
(MONDO_0859147)
 Limited
WDR26
(HGNC:21208)
Skraban-Deardorff syndrome
(MONDO_0054636)
 Definitive
FA2H
(HGNC:21197)
hereditary spastic paraplegia 35
(MONDO_0012866)
 Strong
RMND1
(HGNC:21176)
mitochondrial disease
(MONDO_0044970)
 Strong
RMND1
(HGNC:21176)
combined oxidative phosphorylation defect type 11
(MONDO_0013969)
 Strong
ZBTB24
(HGNC:21143)
immunodeficiency-centromeric instability-facial anomalies syndrome 2
(MONDO_0013553)
 Definitive
DSE
(HGNC:21144)
Ehlers-Danlos syndrome, musculocontractural type
(MONDO_0011142)
 Strong
ZBTB24
(HGNC:21143)
immunodeficiency-centromeric instability-facial anomalies syndrome
(MONDO_0000133)
 Strong
MIB1
(HGNC:21086)
left ventricular noncompaction
(MONDO_0018901)
 Limited
IYD
(HGNC:21071)
familial thyroid dyshormonogenesis
(MONDO_0010132)
 Moderate
FARS2
(HGNC:21062)
combined oxidative phosphorylation defect type 14
(MONDO_0013986)
 Strong
FARS2
(HGNC:21062)
hereditary spastic paraplegia 77
(MONDO_0014882)
 Moderate
SERAC1
(HGNC:21061)
Leigh syndrome
(MONDO_0009723)
 Strong
RSPH9
(HGNC:21057)
primary ciliary dyskinesia
(MONDO_0016575)
 Definitive
ERMARD
(HGNC:21056)
periventricular nodular heterotopia
(MONDO_0020341)
 Limited
PITPNM3
(HGNC:21043)
cone-rod dystrophy
(MONDO_0015993)
 Limited
PITPNM3
(HGNC:21043)
cone-rod dystrophy 5
(MONDO_0010969)
 Moderate
NDUFAF4
(HGNC:21034)
mitochondrial complex I deficiency
(MONDO_0100133)
 Moderate
HACE1
(HGNC:21033)
spastic paraplegia-severe developmental delay-epilepsy syndrome
(MONDO_0014764)
 Strong
Showing 2681–2700 of 6681