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Diseases
Genes (446)
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COL2A1
Collagen, Type Ii, Alpha-1
KCNA1
Episodic Ataxia Type 1
TTPA
Familial Isolated Vitamin E Deficiency
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
TRPV4
Congenital Distal Spinal Muscular Atrophy
UBE3B
Kaufman Oculocerebrofacial Syndrome
PAH
Phenylketonuria
GFPT1
Congenital Myasthenic Syndromes
IFIH1
Singleton Merten Syndrome
AGRN
Congenital Myasthenic Syndromes
ACTG2
Berdon Syndrome
SCN4A
Congenital Myasthenic Syndromes
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNL1
Merrf Syndrome
TRNP
Merrf Syndrome