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Diseases
Genes (986)
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RET
Thyroid Carcinoma, Familial Medullary
Multiple Endocrine Neoplasia, Type Iia
Intestinal Pseudo-Obstruction
VPS33B
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
ABHD5
Cerebral Creatine Deficiency
VIPAS39
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
ZNF469
Brittle Cornea Syndrome 1
NTRK1
Thyroid Carcinoma, Familial Medullary
Leiomyosarcoma
Multiple Endocrine Neoplasia, Type Iia
PABPN1
Oculopharyngeal Muscular Dystrophy
MKS1
Bardet-Biedl Syndrome 9
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
PDGFRB
Cerebral Creatine Deficiency
Primary Familial Brain Calcification
Leiomyosarcoma
SLC20A2
Primary Familial Brain Calcification
CLMP
Intestinal Pseudo-Obstruction