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Diseases
Genes (787)
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CHM
Choroideremia
X-Linked Intellectual Disability
ABHD5
Cerebral Creatine Deficiency
TP53
Alopecia, Androgenetic, 1
X-Linked Intellectual Disability
Li–fraumeni Syndrome
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
COMP
Pseudoachondroplasia
RYR1
Malignant Hyperthermia
Multiminicore Myopathy
GAMT
Guanidinoacetate Methyltransferase Deficiency
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
SCNN1B
Liddle Syndrome 2
MYO5A
Griscelli Syndrome
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
COL2A1
Collagen, Type Ii, Alpha-1
Pseudoachondroplasia
RAB3GAP1
Warburg Micro Syndrome 3
RBM8A
Thrombocytopenia-Absent Radius Syndrome
GNAS
Progressive Osseous Heteroplasia
PTEN
Proteus-Like Syndrome
Li–fraumeni Syndrome
AHDC1
Xia–gibbs Syndrome
NF1
Li–fraumeni Syndrome
Watson Syndrome
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
PTPN11
Metachondromatosis
SAMD9L
Ataxia-Pancytopenia Syndrome