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Diseases
Genes (421)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
MYO5B
Microvillus Inclusion Disease
FOXE1
Bamforth-Lazarus Syndrome
COL11A2
Weissenbacher-Zweymüller Syndrome
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
UBE2A
Mental Retardation, X-Linked, Syndromic, Nascimento Type
MC2R
Familial Glucocorticoid Deficiency
PTPN11
Noonan Syndrome With Multiple Lentigines
LEMD2
Cataract 46, Juvenile-Onset
PTEN
Hemihypertrophy
Noonan Syndrome With Multiple Lentigines
STX3
Microvillus Inclusion Disease
RAF1
Hepatitis E
Noonan Syndrome With Multiple Lentigines
SRD5A2
Alopecia, Androgenetic, 1
AR
Alopecia, Androgenetic, 1
H19
Hemihypertrophy
KCNQ1OT1
Hemihypertrophy
IGF2
Hemihypertrophy
MRAP
Familial Glucocorticoid Deficiency
ABCC2
Alopecia, Androgenetic, 1