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Diseases
Genes (1043)
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RAB27A
Choroideremia
Griscelli Syndrome Type 2
Griscelli Syndrome
MYO5A
Griscelli Syndrome
Griscelli Syndrome
CHM
Choroideremia
X-Linked Intellectual Disability
ABHD5
Cerebral Creatine Deficiency
TP53
Alopecia, Androgenetic, 1
Hereditary Leiomyomatosis And Renal Cell Cancer
Li–fraumeni Syndrome
X-Linked Intellectual Disability
UNC119
Immunodeficiency 13
Unc119 Lipid-Binding Chaperone
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
VPS13B
Cohen Syndrome
Kyphosis
RAB3GAP1
Kyphosis
Warburg Micro Syndrome 3
RYR1
Malignant Hyperthermia
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
GNAS
Kyphosis
Progressive Osseous Heteroplasia
GORAB
Alopecia, Androgenetic, 1
Gerodermia Osteodysplastica
PTEN
Kyphosis
Proteus-Like Syndrome
Li–fraumeni Syndrome
NOTCH3
Cadasil
Kyphosis
FH
Hereditary Leiomyomatosis And Renal Cell Cancer
RAB18
Kyphosis
Warburg Micro Syndrome 3
RAB3GAP2
Kyphosis
Warburg Micro Syndrome 3
PTPN11
Kyphosis
Metachondromatosis