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Diseases
Genes (415)
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COMP
Pseudoachondroplasia
KERA
Cornea Plana 2, Autosomal Recessive
SCNN1B
Liddle Syndrome 2
SLC4A1
Southeast Asian Ovalocytosis
Restrictive Cardiomyopathy
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
RBM8A
Thrombocytopenia-Absent Radius Syndrome
AHDC1
Xia–gibbs Syndrome
MKS1
Bardet-Biedl Syndrome 11
SAMD9L
Ataxia-Pancytopenia Syndrome
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types
TNNI3
Restrictive Cardiomyopathy
BBS10
Bardet-Biedl Syndrome 11
KIDINS220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
SDCCAG8
Bardet-Biedl Syndrome 11
LZTFL1
Bardet-Biedl Syndrome 11
SCNN1G
Liddle Syndrome 2
PRNP
Kuru, Susceptibility To
Akinetic Mutism
BBIP1
Bardet-Biedl Syndrome 11
DHX30
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language