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Diseases
Genes (618)
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PMM2
Pmm2 Deficiency
Epileptic Encephalopathy, Early Infantile, 15
TP63
Hay–wells Syndrome
SCNN1B
Liddle Syndrome 1
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
ASL
Argininosuccinic Aciduria
ABCA4
Stargardt Disease 4
AHDC1
Xia–gibbs Syndrome
PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
COMP
Pseudoachondroplasia
PQBP1
Renpenning's Syndrome
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
RBM8A
Thrombocytopenia-Absent Radius Syndrome
PDGFRB
Primary Familial Brain Calcification
Unicameral Bone Cyst
MAGEL2
Schaaf-Yang Syndrome
GALE
Galactose Epimerase Deficiency
SLC20A2
Primary Familial Brain Calcification
SAMD9L
Ataxia-Pancytopenia Syndrome
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types