Stats
Gene–disease association summaries
Gene–Disease Browser
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| 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
|
|