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Diseases
Genes (832)
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RET
Thyroid Carcinoma, Familial Medullary
Multiple Endocrine Neoplasia, Type Iia
VPS33B
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
COL2A1
Avascular Necrosis Of Femoral Head, Primary, 1
Collagen, Type Ii, Alpha-1
VIPAS39
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
PABPN1
Oculopharyngeal Muscular Dystrophy
ZNF469
Brittle Cornea Syndrome 1
MKS1
Bardet-Biedl Syndrome 9
NTRK1
Thyroid Carcinoma, Familial Medullary
Leiomyosarcoma
Multiple Endocrine Neoplasia, Type Iia
TBCE
Ear Malformation
Sanjad-Sakati Syndrome
BBS10
Bardet-Biedl Syndrome 9
GARS1
Distal Hereditary Motor Neuropathy Type V
SDCCAG8
Bardet-Biedl Syndrome 9
LZTFL1
Bardet-Biedl Syndrome 9
GNPTAB
Pseudo-Hurler Polydystrophy
SIGMAR1
Distal Spinal Muscular Atrophy Type 2
BSCL2
Distal Hereditary Motor Neuropathy Type V
BBIP1
Bardet-Biedl Syndrome 9
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
Leiomyosarcoma
ABCB11
Congenital Afibrinogenemia
Intrahepatic Cholestasis Of Pregnancy