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Diseases
Genes (633)
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NPR2
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelic Dysplasia, Hunter-Thompson Type
TTPA
Familial Isolated Vitamin E Deficiency
NRAS
Melanosis, Neurocutaneous
Splenomegaly
COL2A1
Collagen, Type Ii, Alpha-1
Splenomegaly
GDF5
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelic Dysplasia, Hunter-Thompson Type
TAF1
Dystonia 3, Torsion, X-Linked
SLC27A4
Ichthyosis Prematurity Syndrome
PRPS1
Arts Syndrome
BCS1L
Gracile Syndrome
PAH
Phenylketonuria
APOA1
Familial Isolated Vitamin E Deficiency
Hypobetalipoproteinemia
Splenomegaly
Ocular Hypertension
TGFB3
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
CTNS
Cystinosis
Splenomegaly
FAS
Splenomegaly
Ocular Hypertension
CCDC8
3m Syndrome
APOB
Familial Isolated Vitamin E Deficiency
Hypobetalipoproteinemia
CUL7
3m Syndrome
HBB
Melorheostosis
Splenomegaly
IL6
Familial Isolated Vitamin E Deficiency
Aseptic Meningitis
Subacromial Bursitis
Splenomegaly
APOE
Hypobetalipoproteinemia
Splenomegaly