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
ACTA1
(HGNC:129)
zebra body myopathy
(MONDO_0019949)
 Limited
ACTA1
(HGNC:129)
congenital fiber-type disproportion myopathy
(MONDO_0009711)
 Strong
ACTA1
(HGNC:129)
nemaline myopathy 3
(MONDO_0008070)
 Strong
ZMYM2
(HGNC:12989)
neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
(MONDO_0859190)
 Moderate
PCGF2
(HGNC:12929)
turnpenny-fry syndrome
(MONDO_0032707)
 Strong
ZMYM2
(HGNC:12989)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
 Strong
RNF113A
(HGNC:12974)
trichothiodystrophy
(MONDO_0018053)
 Moderate
ZIC2
(HGNC:12873)
holoprosencephaly
(MONDO_0016296)
 Definitive
ZMPSTE24
(HGNC:12877)
mandibuloacral dysplasia with type B lipodystrophy
(MONDO_0012074)
 Strong
ZMPSTE24
(HGNC:12877)
Hutchinson-Gilford progeria syndrome
(MONDO_0008310)
 Limited
ZIC1
(HGNC:12872)
Dandy-Walker syndrome
(MONDO_0009072)
 Limited
YWHAG
(HGNC:12852)
developmental and epileptic encephalopathy, 56
(MONDO_0033365)
 Strong
XRCC2
(HGNC:12829)
Fanconi anemia
(MONDO_0019391)
 Moderate
YY1
(HGNC:12856)
Gabriele de Vries syndrome
(MONDO_0044738)
 Strong
YARS1
(HGNC:12840)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
XPC
(HGNC:12816)
xeroderma pigmentosum
(MONDO_0019600)
 Definitive
XRCC1
(HGNC:12828)
head and neck cancer
(MONDO_0005627)
 Disputed
XRCC2
(HGNC:12829)
breast cancer
(MONDO_0007254)
 Disputed
XPC
(HGNC:12816)
xeroderma pigmentosum group C
(MONDO_0010211)
 Definitive
XPA
(HGNC:12814)
xeroderma pigmentosum
(MONDO_0019600)
 Definitive
Showing 3601–3620 of 6699