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Diseases
Genes (603)
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VPS33B
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
ASL
Argininosuccinic Aciduria
MYO5B
Microvillus Inclusion Disease
VIPAS39
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
PABPN1
Oculopharyngeal Muscular Dystrophy
PMM2
Pmm2 Deficiency
ZNF469
Brittle Cornea Syndrome 1
RET
Thyroid Carcinoma, Familial Medullary
MKS1
Bardet-Biedl Syndrome 9
NTRK1
Thyroid Carcinoma, Familial Medullary
BBS10
Bardet-Biedl Syndrome 9
SLC20A2
Primary Familial Brain Calcification
GNPTAB
Pseudo-Hurler Polydystrophy
SIGMAR1
Distal Spinal Muscular Atrophy Type 2
PDGFRB
Primary Familial Brain Calcification
MC2R
Familial Glucocorticoid Deficiency
SDCCAG8
Bardet-Biedl Syndrome 9
LZTFL1
Bardet-Biedl Syndrome 9
BBIP1
Bardet-Biedl Syndrome 9
NRAS
Neurocutaneous Melanosis