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Diseases
Genes (974)
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ABHD5
Cerebral Creatine Deficiency
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
COMP
Pseudoachondroplasia
GAMT
Guanidinoacetate Methyltransferase Deficiency
SCNN1B
Liddle Syndrome 2
RBM8A
Thrombocytopenia-Absent Radius Syndrome
AHDC1
Xia–gibbs Syndrome
SAMD9L
Ataxia-Pancytopenia Syndrome
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types
AGGF1
Klippel-Trenaunay-Weber Syndrome
CCBE1
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
CRH
Alopecia, Androgenetic, 1
Epileptic Encephalopathy, Early Infantile, 15
KIDINS220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
MMP9
Abdominal Aortic Aneurysm
Aneurysm
SCNN1G
Liddle Syndrome 2
HNRNPA2B1
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
HNRNPA1
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
SCNN1A
Liddle Syndrome 2
FAT4
Hennekam Lymphangiectasia-Lymphedema Syndrome 3