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Diseases
Genes (770)
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CLCN5
Dent Disease
Dent's Disease
Dent Disease
Dent Disease
Dent Disease Type 1
OCRL
Primary Fanconi Renotubular Syndrome
Dent Disease
Dent's Disease
Dent Disease
Joint Stiffness
Oculocerebrorenal Syndrome
GJA1
Oculodentodigital Dysplasia
Cubitus Valgus
ATRX
Joint Stiffness
Alpha-Thalassemia Mental Retardation Syndrome
BEST1
Vitelliform Macular Dystrophy
SCNN1B
Liddle Syndrome 2
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
FAM20A
Enamel-Renal Syndrome
MED12
Fg Syndrome
Alpha-Thalassemia Mental Retardation Syndrome
SCN9A
Paroxysmal Extreme Pain Disorder
UBA1
Joint Stiffness
X-Linked Spinal Muscular Atrophy Type 2
RBM8A
Thrombocytopenia-Absent Radius Syndrome
AHDC1
Xia–gibbs Syndrome
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types
KIDINS220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
SCNN1G
Liddle Syndrome 2
OFD1
Orofaciodigital Syndrome 1