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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
CC2D2A
(HGNC:29253)
Joubert syndrome 9
(MONDO_0012849)
 Strong
WDR35
(HGNC:29250)
short-rib thoracic dysplasia 7 with or without polydactyly
(MONDO_0013569)
 Strong
PRR12
(HGNC:29217)
neuroocular syndrome
(MONDO_0859193)
 Limited
INTU
(HGNC:29239)
orofaciodigital syndrome 17
(MONDO_0033375)
 Moderate
TBC1D24
(HGNC:29203)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
 Strong
TBC1D24
(HGNC:29203)
malignant migrating partial seizures of infancy
(MONDO_0017385)
 Limited
TNRC6B
(HGNC:29190)
global developmental delay with speech and behavioral abnormalities
(MONDO_0030995)
 Strong
TBC1D24
(HGNC:29203)
autosomal recessive nonsyndromic hearing loss 86
(MONDO_0013826)
 Strong
ANKRD26
(HGNC:29186)
acute myeloid leukemia
(MONDO_0018874)
 Strong
ANKRD26
(HGNC:29186)
thrombocytopenia 2
(MONDO_0008555)
 Definitive
FAN1
(HGNC:29170)
hereditary nonpolyposis colon cancer
(MONDO_0018630)
 Limited
CEP164
(HGNC:29182)
Senior-Loken syndrome
(MONDO_0017842)
 Limited
CEP164
(HGNC:29182)
ciliopathy
(MONDO_0005308)
 Limited
WASHC4
(HGNC:29174)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Strong
RPGRIP1L
(HGNC:29168)
Joubert syndrome 7
(MONDO_0012694)
 Strong
RPGRIP1L
(HGNC:29168)
Meckel syndrome
(MONDO_0018921)
 Strong
FASTKD2
(HGNC:29160)
combined oxidative phosphorylation deficiency 44
(MONDO_0030020)
 Moderate
MAU2
(HGNC:29140)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
PLEKHM2
(HGNC:29131)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
DLL4
(HGNC:2910)
aplasia cutis congenita
(MONDO_0007145)
 Limited
Showing 2041–2060 of 6681