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Diseases
Genes (349)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
MYO5B
Microvillus Inclusion Disease
TTPA
Familial Isolated Vitamin E Deficiency
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
MC2R
Familial Glucocorticoid Deficiency
IFIH1
Singleton Merten Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
STX3
Microvillus Inclusion Disease
CTNS
Cystinosis
MRAP
Familial Glucocorticoid Deficiency
RB1
Pinealoblastoma
Trilateral Retinoblastoma
LEMD3
Pmm2 Deficiency
Melorheostosis
CILP
Lumbar Disc Disease
SART3
Disseminated Superficial Actinic Porokeratosis
COL9A3
Lumbar Disc Disease