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Diseases
Genes (815)
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ATRX
Alpha-Thalassemia Mental Retardation Syndrome
GJA1
Lymphangioleiomyomatosis
Neurodegeneration With Brain Iron Accumulation
Oculodentodigital Dysplasia
WRN
Werner Syndrome
COL2A1
Collagen, Type Ii, Alpha-1
TSC2
Lymphangioleiomyomatosis
GNAS
Meconium Aspiration Syndrome
Mccune-Albright Syndrome
MAFB
Multicentric Carpotarsal Osteolysis Syndrome
TSC1
Lymphangioleiomyomatosis
PRPS1
Neurodegeneration With Brain Iron Accumulation
Arts Syndrome
PCDH19
Epilepsy-Intellectual Disability In Females
Epilepsy Syndromes
PRRT2
Benign Familial Infantile Epilepsy
Epilepsy Syndromes
GALE
Galactose Epimerase Deficiency
UBA1
X-Linked Spinal Muscular Atrophy Type 2
FBLN5
Cutis Laxa
ELN
Cutis Laxa
MMAA
Vitamin B12-Responsive Methylmalonic Acidemia
PYCR1
Cutis Laxa
EFEMP2
Cutis Laxa
WDR45
Neurodegeneration With Brain Iron Accumulation
NRAS
Neurocutaneous Melanosis