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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
TRIM32
(HGNC:16380)
autosomal recessive limb-girdle muscular dystrophy type 2H
(MONDO_0009683)
 Strong
PNPLA6
(HGNC:16268)
ataxia-hypogonadism-choroidal dystrophy syndrome
(MONDO_0008980)
 Strong
SLC19A3
(HGNC:16266)
biotin-responsive basal ganglia disease
(MONDO_0011841)
 Definitive
SLC52A3
(HGNC:16187)
riboflavin transporter deficiency
(MONDO_0008891)
 Definitive
PCNT
(HGNC:16068)
microcephalic osteodysplastic primordial dwarfism type II
(MONDO_0008872)
 Definitive
APTX
(HGNC:15984)
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
(MONDO_0008842)
 Definitive
GDAP1
(HGNC:15968)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
RP1L1
(HGNC:15946)
occult macular dystrophy
(MONDO_0013316)
 Strong
SAMHD1
(HGNC:15925)
Aicardi-Goutieres syndrome
(MONDO_0018866)
 Definitive
PANK2
(HGNC:15894)
neurodegeneration with brain iron accumulation
(MONDO_0018307)
 Definitive
PANK2
(HGNC:15894)
pantothenate kinase-associated neurodegeneration
(MONDO_0009319)
 Definitive
FERMT1
(HGNC:15889)
Kindler syndrome
(MONDO_0008260)
 Definitive
ABHD12
(HGNC:15868)
PHARC syndrome
(MONDO_0012984)
 Definitive
ADNP
(HGNC:15766)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
(MONDO_0014379)
 Definitive
KRIT1
(HGNC:1573)
cerebral cavernous malformation
(MONDO_0000820)
 Definitive
IL36RN
(HGNC:15561)
generalized pustular psoriasis
(MONDO_0100491)
 Definitive
IL36RN
(HGNC:15561)
psoriasis 14, pustular
(MONDO_0013626)
 Definitive
MBTPS2
(HGNC:15455)
IFAP syndrome
(MONDO_0100212)
 Strong
SPINK5
(HGNC:15464)
Netherton syndrome
(MONDO_0009735)
 Definitive
SHOC2
(HGNC:15454)
RASopathy
(MONDO_0021060)
 Definitive
Showing 4981–5000 of 6681