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Diseases
Genes (574)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
MYO5B
Microvillus Inclusion Disease
CLCN1
Myotonia Congenita, Autosomal Recessive
GBA
Gaucher Disease, Type Iii
PITX3
Anterior Segment Dysgenesis 1
FOXE3
Anterior Segment Dysgenesis 1
STX3
Microvillus Inclusion Disease
SRD5A2
Alopecia, Androgenetic, 1
WWTR1
Epithelioid Hemangioendothelioma
CAMTA1
Epithelioid Hemangioendothelioma
TFE3
Epithelioid Hemangioendothelioma
AR
Alopecia, Androgenetic, 1
PXDN
Anterior Segment Dysgenesis 1
AP3D1
Albinism
TYR
Albinism
YAP1
Epithelioid Hemangioendothelioma
SCN4A
Myotonia Congenita, Autosomal Recessive
MITF
Albinism
ACE
Hospital-Acquired Pneumonia
Gaucher Disease, Type Iii