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Diseases
Genes (374)
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ALPL
Odontohypophosphatasia
Hypophosphatasia, Childhood
GJA1
Oculodentodigital Dysplasia
ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
NIPBL
Cornelia De Lange Syndrome 3
ATR
Cornelia De Lange Syndrome 3
Cutaneous Telangiectasia And Cancer Syndrome, Familial
FGF10
Aplasia Of Lacrimal And Salivary Glands
COL7A1
Generalized Dominant Dystrophic Epidermolysis Bullosa
RAD21
Cornelia De Lange Syndrome 3
KRT14
Epidermolysis Bullosa Simplex, Autosomal Recessive K14
HDAC8
Cornelia De Lange Syndrome 3
EYA1
Otofaciocervical Syndrome 2
TERT
Dyskeratosis Congenita, Autosomal Recessive 6
COX4I2
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
RTEL1
Dyskeratosis Congenita, Autosomal Recessive 6
DKC1
Dyskeratosis Congenita, Autosomal Recessive 6
PAX1
Otofaciocervical Syndrome 2
FAM111A
Kenny-Caffey Syndrome
ACD
Dyskeratosis Congenita, Autosomal Recessive 6
LAMC2
Junctional Epidermolysis Bullosa Inversa