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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
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GSTT4
(HGNC:26930)
velocardiofacial syndrome
(MONDO_0008644)
Limited
UFC1
(HGNC:26941)
neurodevelopmental disorder
(MONDO_0700092)
Moderate
UFC1
(HGNC:26941)
intellectual disability
(MONDO_0001071)
Limited
FOXRED1
(HGNC:26927)
mitochondrial complex I deficiency
(MONDO_0100133)
Strong
JAGN1
(HGNC:26926)
severe congenital neutropenia
(MONDO_0018542)
Strong
TAPT1
(HGNC:26887)
osteogenesis imperfecta
(MONDO_0019019)
Limited
ERCC6L2
(HGNC:26922)
pancytopenia
(MONDO_0001529)
Strong
FAM241A
(HGNC:26813)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
CKAP2L
(HGNC:26877)
Filippi syndrome
(MONDO_0010092)
Strong
ANKRD31
(HGNC:26853)
premature menopause
(MONDO_0001119)
Limited
TYW5
(HGNC:26754)
schizophrenia
(MONDO_0005090)
Limited
CCDC116
(HGNC:26688)
lung cancer
(MONDO_0008903)
Limited
ANKS6
(HGNC:26724)
nephronophthisis
(MONDO_0019005)
Strong
MLKL
(HGNC:26617)
Alzheimer disease
(MONDO_0004975)
Limited
TERB1
(HGNC:26675)
female infertility
(MONDO_0021124)
Limited
HYLS1
(HGNC:26558)
Joubert syndrome
(MONDO_0018772)
Limited
ODAD1
(HGNC:26560)
primary ciliary dyskinesia
(MONDO_0016575)
Strong
ZFYVE27
(HGNC:26559)
hereditary spastic paraplegia
(MONDO_0019064)
Limited
HYLS1
(HGNC:26558)
hydrolethalus syndrome
(MONDO_0006037)
Strong
VWA5B1
(HGNC:26538)
Alzheimer disease
(MONDO_0004975)
Limited
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