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Diseases
Genes (614)
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ABHD5
Cerebral Creatine Deficiency
VPS33B
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
PABPN1
Oculopharyngeal Muscular Dystrophy
VIPAS39
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
ZNF469
Brittle Cornea Syndrome 1
TBCE
Ear Malformation
Sanjad-Sakati Syndrome
RET
Thyroid Carcinoma, Familial Medullary
MKS1
Bardet-Biedl Syndrome 9
NTRK1
Thyroid Carcinoma, Familial Medullary
BBS10
Bardet-Biedl Syndrome 9
PQBP1
Renpenning's Syndrome
IFIH1
Onycholysis
Singleton Merten Syndrome
SLC20A2
Primary Familial Brain Calcification
GNPTAB
Pseudo-Hurler Polydystrophy
PDGFRB
Cerebral Creatine Deficiency
Primary Familial Brain Calcification
SIGMAR1
Distal Spinal Muscular Atrophy Type 2
SDCCAG8
Bardet-Biedl Syndrome 9
LZTFL1
Bardet-Biedl Syndrome 9