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Diseases
Genes (811)
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ABHD5
Cerebral Creatine Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
FOXP2
Speech-Language Disorder 1
PQBP1
Renpenning's Syndrome
SLC4A1
Distal Renal Tubular Acidosis
IFIH1
Dermatopolymyositis
Singleton Merten Syndrome
SHH
Holoprosencephaly
SIX3
Holoprosencephaly
TGIF1
Holoprosencephaly
GLI2
Holoprosencephaly
COL9A1
Multiple Epiphyseal Dysplasia
NODAL
Holoprosencephaly
AGGF1
Klippel-Trenaunay-Weber Syndrome
P4HB
Cole-Carpenter Syndrome
SEC24D
Cole-Carpenter Syndrome
PEX1
Heimler Syndrome
ZIC2
Holoprosencephaly
RB1
Pinealoblastoma
Holoprosencephaly
Trilateral Retinoblastoma
PEX6
Heimler Syndrome