Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
KLLN
(HGNC:37212)
Cowden disease
(MONDO_0016063)
 Limited
CRPPA
(HGNC:37276)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Strong
ATP8B1
(HGNC:3706)
progressive familial intrahepatic cholestasis type 1
(MONDO_0008892)
 Definitive
FHL1
(HGNC:3702)
X-linked myopathy with postural muscle atrophy
(MONDO_0010401)
 Strong
FH
(HGNC:3700)
fumaric aciduria
(MONDO_0011730)
 Definitive
FIBP
(HGNC:3705)
tall stature-intellectual disability-renal anomalies syndrome
(MONDO_0014918)
 Moderate
FH
(HGNC:3700)
hereditary leiomyomatosis and renal cell cancer
(MONDO_0007888)
 Definitive
FH
(HGNC:3700)
leiomyosarcoma
(MONDO_0005058)
 Limited
FGG
(HGNC:3694)
congenital fibrinogen deficiency
(MONDO_0018060)
 Strong
FGFR3
(HGNC:3690)
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
(MONDO_0014658)
 Strong
FGG
(HGNC:3694)
thrombophilia
(MONDO_0002305)
 Limited
FGFR3
(HGNC:3690)
camptodactyly-tall stature-scoliosis-hearing loss syndrome
(MONDO_0012504)
 Moderate
FGFR3
(HGNC:3690)
Crouzon syndrome-acanthosis nigricans syndrome
(MONDO_0012833)
 Strong
FGFR3
(HGNC:3690)
Muenke syndrome
(MONDO_0011274)
 Definitive
FGFR3
(HGNC:3690)
LADD syndrome
(MONDO_0007872)
 Limited
FGFR3
(HGNC:3690)
thanatophoric dysplasia type 1
(MONDO_0008546)
 Strong
FGFR2
(HGNC:3689)
Jackson-Weiss syndrome
(MONDO_0007400)
 Strong
FGFR3
(HGNC:3690)
hypochondroplasia
(MONDO_0007793)
 Definitive
FGFR3
(HGNC:3690)
Achondroplasia
(MONDO_0007037)
 Definitive
FGFR2
(HGNC:3689)
Pfeiffer syndrome type 1
(MONDO_0019659)
 Strong
Showing 1641–1660 of 6699