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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
CUL7
(HGNC:21024)
3-M syndrome
(MONDO_0007477)
 Definitive
NHLRC1
(HGNC:21576)
Lafora disease
(MONDO_0009697)
 Definitive
RARS2
(HGNC:21406)
pontocerebellar hypoplasia type 6
(MONDO_0012683)
 Strong
ABHD5
(HGNC:21396)
Dorfman-Chanarin disease
(MONDO_0010155)
 Definitive
ANKRD11
(HGNC:21316)
KBG syndrome
(MONDO_0007846)
 Definitive
DYM
(HGNC:21317)
Dyggve-Melchior-Clausen disease
(MONDO_0009130)
 Definitive
FA2H
(HGNC:21197)
fatty acid hydroxylase-associated neurodegeneration
(MONDO_0017999)
 Strong
SERAC1
(HGNC:21061)
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
(MONDO_0013875)
 Definitive
CLN6
(HGNC:2077)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Definitive
TUBB4A
(HGNC:20774)
hypomyelinating leukodystrophy 6
(MONDO_0012905)
 Definitive
CLN5
(HGNC:2076)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Definitive
CLN3
(HGNC:2074)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Definitive
CLN3
(HGNC:2074)
neuronal ceroid lipofuscinosis 3
(MONDO_0008767)
 Definitive
CLDN19
(HGNC:2040)
renal hypomagnesemia 3
(MONDO_0009550)
 Definitive
L2HGDH
(HGNC:20499)
L-2-hydroxyglutaric aciduria
(MONDO_0009370)
 Definitive
CLDN16
(HGNC:2037)
renal hypomagnesemia 3
(MONDO_0009550)
 Definitive
SUMF1
(HGNC:20376)
mucosulfatidosis
(MONDO_0010088)
 Definitive
SLC34A3
(HGNC:20305)
hereditary hypophosphatemic rickets with hypercalciuria
(MONDO_0009431)
 Definitive
CLCNKB
(HGNC:2027)
Bartter syndrome
(MONDO_0015231)
 Definitive
CLCNKB
(HGNC:2027)
Bartter disease type 3
(MONDO_0011822)
 Definitive
Showing 4881–4900 of 6681