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Diseases
Genes (893)
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ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
Juvenile Primary Lateral Sclerosis
CHM
Choroideremia
X-Linked Intellectual Disability
SLC6A19
Hartnup Disease
MYO5B
Microvillus Inclusion Disease
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
POLG
Balo Concentric Sclerosis
GNAS
Fibrous Dysplasia Of Bone
Progressive Osseous Heteroplasia
MYO5A
Griscelli Syndrome
OPA3
Costeff Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
NPC1
Niemann–pick Disease, Type C
SLC17A5
Salla Disease
RAB3GAP1
Warburg Micro Syndrome 3
FECH
Erythropoietic Protoporphyria
SIL1
Polycystic Liver Disease
Marinesco–sjögren Syndrome
PTEN
Proteus-Like Syndrome
Marinesco–sjögren Syndrome
NF1
Fibrous Dysplasia Of Bone
Watson Syndrome
PTPN11
Metachondromatosis
RAC2
Neutrophil Immunodeficiency Syndrome
ZAP70
Zap70 Deficiency