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Diseases
Genes (800)
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VPS33B
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
MKS1
Bardet-Biedl Syndrome 9
ZNF469
Brittle Cornea Syndrome 1
ABHD5
Cerebral Creatine Deficiency
VIPAS39
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
RET
Thyroid Carcinoma, Familial Medullary
PABPN1
Oculopharyngeal Muscular Dystrophy
BBS10
Bardet-Biedl Syndrome 9
TBCE
Ear Malformation
Sanjad-Sakati Syndrome
NTRK1
Thyroid Carcinoma, Familial Medullary
Leiomyosarcoma
SDCCAG8
Bardet-Biedl Syndrome 9
LZTFL1
Bardet-Biedl Syndrome 9
BBIP1
Bardet-Biedl Syndrome 9
GARS1
Distal Hereditary Motor Neuropathy Type V
SIGMAR1
Distal Spinal Muscular Atrophy Type 2
GNPTAB
Pseudo-Hurler Polydystrophy
BSCL2
Distal Hereditary Motor Neuropathy Type V
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
Cerebral Creatine Deficiency
Leiomyosarcoma
PRDM5
Brittle Cornea Syndrome 1