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Diseases
Genes (485)
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ABHD5
Cerebral Creatine Deficiency
MYO5B
Microvillus Inclusion Disease
SLC6A19
Hartnup Disease
POLG
Balo Concentric Sclerosis
GAMT
Guanidinoacetate Methyltransferase Deficiency
CPT1A
Carnitine Palmitoyltransferase I Deficiency
COL2A1
Collagen, Type Ii, Alpha-1
Chondrodystrophy
PMM2
Pmm2 Deficiency
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
MC2R
Familial Glucocorticoid Deficiency
PAH
Phenylketonuria
STX3
Microvillus Inclusion Disease
SLC4A4
Proximal Renal Tubular Acidosis
SRD5A2
Alopecia, Androgenetic, 1
AR
Alopecia, Androgenetic, 1
RB1
Pinealoblastoma
Trilateral Retinoblastoma
MRAP
Familial Glucocorticoid Deficiency
LEMD3
Melorheostosis
Pmm2 Deficiency
VDR
Lumbar Disc Disease
Alopecia, Androgenetic, 1
CILP
Lumbar Disc Disease