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Diseases
Genes (1612)
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RB1
Pinealoblastoma
Retinoblastoma
Trilateral Retinoblastoma
ASL
Argininosuccinic Aciduria
TBX5
Retinoblastoma
Holt–oram Syndrome
SLC6A19
Hartnup Disease
GJA1
Oculodentodigital Dysplasia
PMM2
Pmm2 Deficiency
F12
Factor Xii Deficiency
MMUT
Retinoblastoma
Methylmalonyl-Coa Mutase Deficiency
FMR1
Renpenning's Syndrome
Fg Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
UMOD
Medullary Cystic Kidney Disease
NGLY1
Ngly1 Deficiency
FGFR2
Retinoblastoma
Bronchopulmonary Dysplasia
Jackson–weiss Syndrome
LMNA
Retinoblastoma
Limb–girdle Muscular Dystrophy
Fragile X-Associated Tremor/ataxia Syndrome
Holt–oram Syndrome
RHBDF2
Howel–evans Syndrome
UBA1
X-Linked Spinal Muscular Atrophy Type 2
FGFR1
Retinoblastoma
Jackson–weiss Syndrome
GALE
Galactose Epimerase Deficiency
DBH
Dopamine Beta Hydroxylase Deficiency