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Diseases
Genes (773)
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COMP
Joint Stiffness
Genu Recurvatum
Pseudoachondroplasia
PAX6
Aniridia 3
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
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
BBS10
Bardet-Biedl Syndrome 11
KIDINS220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
SDCCAG8
Bardet-Biedl Syndrome 11
LZTFL1
Bardet-Biedl Syndrome 11
GLRB
Joint Stiffness
Hyperekplexia
SCNN1G
Liddle Syndrome 2
SLC6A5
Joint Stiffness
Hyperekplexia