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Diseases
Genes (316)
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COMP
Pseudoachondroplasia
KERA
Cornea Plana 2, Autosomal Recessive
SCNN1B
Liddle Syndrome 2
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
COL2A1
Collagen, Type Ii, Alpha-1
Pseudoachondroplasia
SLC4A1
Southeast Asian Ovalocytosis
RBM8A
Thrombocytopenia-Absent Radius Syndrome
AHDC1
Xia–gibbs Syndrome
SAMD9L
Ataxia-Pancytopenia Syndrome
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types
KIDINS220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
SCNN1G
Liddle Syndrome 2
PAH
Phenylketonuria
PRNP
Kuru, Susceptibility To
Akinetic Mutism
DHX30
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
SCNN1A
Liddle Syndrome 2
GRIA4
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
CDKL5
Epileptic Encephalopathy, Early Infantile, 15
ARX
Epileptic Encephalopathy, Early Infantile, 15