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Diseases
Genes (1026)
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TBX5
Holt–oram Syndrome
FOXP3
Gaucher Disease
Ipex Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
FBN2
Congenital Contractural Arachnodactyly
GBA
Gaucher Disease
MED12
Fg Syndrome
FGFR2
Jackson–weiss Syndrome
Congenital Contractural Arachnodactyly
RECQL4
Baller–gerold Syndrome
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
Congenital Contractural Arachnodactyly
FGFR1
Jackson–weiss Syndrome
Congenital Contractural Arachnodactyly
UBA1
X-Linked Spinal Muscular Atrophy Type 2
IFIH1
Singleton Merten Syndrome
OFD1
Orofaciodigital Syndrome 1
PDGFB
Primary Familial Brain Calcification
CTNS
Cystinosis
SLC4A4
Proximal Renal Tubular Acidosis
TMEM107
Orofaciodigital Syndrome 1