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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
PDE6D
(HGNC:8788)
Joubert syndrome
(MONDO_0018772)
 Moderate
PDCD5
(HGNC:8764)
lung cancer
(MONDO_0008903)
 Disputed
PCNX2
(HGNC:8736)
thyroid cancer
(MONDO_0002108)
 Limited
NUP85
(HGNC:8734)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
 Moderate
ATP5IF1
(HGNC:871)
acute myeloid leukemia
(MONDO_0018874)
 Disputed
PAWR
(HGNC:8614)
schizophrenia
(MONDO_0005090)
 Disputed
PAFAH1B3
(HGNC:8576)
Diamond-Blackfan anemia
(MONDO_0015253)
 Disputed
OSMR
(HGNC:8507)
primary cutaneous amyloidosis
(MONDO_0015301)
 Strong
ATP5MC3
(HGNC:843)
dystonic disorder
(MONDO_0003441)
 Moderate
ATP5F1E
(HGNC:838)
mitochondrial disease
(MONDO_0044970)
 Moderate
ACAA1
(HGNC:82)
atopic eczema
(MONDO_0004980)
 Limited
OPRL1
(HGNC:8155)
opiate dependence
(MONDO_0005530)
 Limited
NMU
(HGNC:7859)
obesity disorder
(MONDO_0011122)
 Limited
NME5
(HGNC:7853)
primary ciliary dyskinesia
(MONDO_0016575)
 Moderate
MAPK4
(HGNC:6878)
psoriasis
(MONDO_0005083)
 Limited
LCN1
(HGNC:6525)
mitochondrial neurogastrointestinal encephalomyopathy
(MONDO_0017575)
 Refuted
LAMP1
(HGNC:6499)
Parkinson disease
(MONDO_0005180)
 Limited
IPO5
(HGNC:6402)
keratoconus
(MONDO_0015486)
 Limited
KLK5
(HGNC:6366)
prostate cancer
(MONDO_0008315)
 Limited
KCNS1
(HGNC:6300)
sickle cell anemia
(MONDO_0011382)
 Limited
Showing 41–60 of 6681