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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
ATP7A
(HGNC:869)
X-linked distal spinal muscular atrophy type 3
(MONDO_0010338)
 Moderate
PCDH12
(HGNC:8657)
diencephalic-mesencephalic junction dysplasia
(MONDO_0017868)
 Strong
PC
(HGNC:8636)
pyruvate carboxylase deficiency disease
(MONDO_0009949)
 Strong
PCDH12
(HGNC:8657)
diencephalic-mesencephalic junction dysplasia syndrome 1
(MONDO_0009625)
 Moderate
PAX8
(HGNC:8622)
athyreosis
(MONDO_0019855)
 Limited
PBX1
(HGNC:8632)
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
(MONDO_0060549)
 Strong
PAX6
(HGNC:8620)
Peters anomaly
(MONDO_0011414)
 Moderate
PAX6
(HGNC:8620)
aniridia-cerebellar ataxia-intellectual disability syndrome
(MONDO_0008795)
 Disputed
PAX4
(HGNC:8618)
monogenic diabetes
(MONDO_0015967)
 Strong
PAX6
(HGNC:8620)
diabetes mellitus
(MONDO_0005015)
 Moderate
PAX4
(HGNC:8618)
maturity-onset diabetes of the young type 9
(MONDO_0012818)
 Moderate
PAX2
(HGNC:8616)
focal segmental glomerulosclerosis 7
(MONDO_0014451)
 Strong
PAX3
(HGNC:8617)
Waardenburg syndrome type 3
(MONDO_0007862)
 Strong
PARN
(HGNC:8609)
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
 Moderate
PAX3
(HGNC:8617)
craniofacial-deafness-hand syndrome
(MONDO_0007395)
 Moderate
PAX2
(HGNC:8616)
renal coloboma syndrome
(MONDO_0007352)
 Definitive
PAX1
(HGNC:8615)
otofaciocervical syndrome 2
(MONDO_0014254)
 Strong
PARN
(HGNC:8609)
dyskeratosis congenita
(MONDO_0015780)
 Strong
PRKN
(HGNC:8607)
young-onset Parkinson disease
(MONDO_0017279)
 Definitive
PRKN
(HGNC:8607)
autosomal recessive juvenile Parkinson disease 2
(MONDO_0010820)
 Definitive
Showing 481–500 of 6681