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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
HEPACAM
(HGNC:26361)
megalencephalic leukoencephalopathy with subcortical cysts 2A
(MONDO_0013490)
 Strong
SCLT1
(HGNC:26406)
Bardet-Biedl syndrome
(MONDO_0015229)
 Limited
NARS2
(HGNC:26274)
mitochondrial disease
(MONDO_0044970)
 Strong
NARS2
(HGNC:26274)
combined oxidative phosphorylation defect type 24
(MONDO_0014547)
 Strong
SPEF2
(HGNC:26293)
primary ciliary dyskinesia
(MONDO_0016575)
 Moderate
PIEZO2
(HGNC:26270)
Marden-Walker syndrome
(MONDO_0009564)
 Strong
PIEZO2
(HGNC:26270)
Gordon syndrome
(MONDO_0007252)
 Strong
PIEZO2
(HGNC:26270)
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
(MONDO_0007158)
 Definitive
POMK
(HGNC:26267)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Limited
OCEL1
(HGNC:26221)
Aicardi syndrome
(MONDO_0010568)
 Disputed
STN1
(HGNC:26200)
Coats plus syndrome
(MONDO_0012815)
 Moderate
FHOD3
(HGNC:26178)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Strong
COLGALT1
(HGNC:26182)
brain small vessel disease 3
(MONDO_0100105)
 Moderate
CTC1
(HGNC:26169)
dyskeratosis congenita
(MONDO_0015780)
 Moderate
AGBL5
(HGNC:26147)
retinitis pigmentosa
(MONDO_0019200)
 Strong
PALB2
(HGNC:26144)
hereditary breast carcinoma
(MONDO_0016419)
 Definitive
PALB2
(HGNC:26144)
Fanconi anemia
(MONDO_0019391)
 Strong
PALB2
(HGNC:26144)
familial ovarian cancer
(MONDO_0016248)
 Moderate
TCTN1
(HGNC:26113)
Meckel syndrome
(MONDO_0018921)
 Limited
CCDC40
(HGNC:26090)
primary ciliary dyskinesia
(MONDO_0016575)
 Definitive
Showing 2241–2260 of 6681