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Diseases
Genes (378)
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ASL
Argininosuccinic Aciduria
MYO5B
Microvillus Inclusion Disease
HMBS
Acute Intermittent Porphyria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
Renpenning's Syndrome
SLC20A2
Basal Ganglia Calcification, Idiopathic, 4
PDGFRB
Basal Ganglia Calcification, Idiopathic, 4
SERPIND1
Heparin Cofactor Ii Deficiency
MC2R
Familial Glucocorticoid Deficiency
IFIH1
Singleton Merten Syndrome
HRAS
Phakomatosis Pigmentokeratotica
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
STX3
Microvillus Inclusion Disease
PDGFB
Basal Ganglia Calcification, Idiopathic, 4
RB1
Pinealoblastoma
Trilateral Retinoblastoma
MRAP
Familial Glucocorticoid Deficiency
CILP
Lumbar Disc Disease
COL9A3
Lumbar Disc Disease