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Diseases
Genes (550)
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CHM
Choroideremia
ABHD5
Cerebral Creatine Deficiency
TP53
Disseminated Superficial Actinic Porokeratosis
Alopecia, Androgenetic, 1
Li–fraumeni Syndrome
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
ARID1B
Coffin–siris Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
RYR1
Malignant Hyperthermia
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5A
Griscelli Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
GNAS
Progressive Osseous Heteroplasia
PTEN
Proteus-Like Syndrome
Li–fraumeni Syndrome
NF1
Li–fraumeni Syndrome
Watson Syndrome
ARID1A
Coffin–siris Syndrome
DNAAF3
Primary Ciliary Dyskinesia
DRC1
Primary Ciliary Dyskinesia
RAC2
Neutrophil Immunodeficiency Syndrome
CHEK2
Li–fraumeni Syndrome
SMARCE1
Coffin–siris Syndrome
RAB18
Warburg Micro Syndrome 3