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Diseases
Genes (1195)
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SERPINA1
Alpha-1-Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency
SLC39A4
Acrodermatitis Enteropathica
Acrodermatitis Enteropathica
PHOX2B
Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome
Constipation
RET
Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome
Constipation
ASCL1
Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome
Constipation
GDNF
Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome
Constipation
Zika Fever
EDN3
Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome
Constipation
HSD3B7
Congenital Bile Acid Synthesis Defect Type 1
MOCOS
Xanthinuria
AKR1D1
Congenital Bile Acid Synthesis Defect Type 2
VPS13B
Cohen Syndrome
Constipation
CLN8
Northern Epilepsy Syndrome
CAMTA1
Epithelioid Hemangioendothelioma
Constipation
BDNF
Congenital Central Hypoventilation Syndrome
Constipation
WWTR1
Epithelioid Hemangioendothelioma
Zika Fever
TFE3
Epithelioid Hemangioendothelioma
WDR19
Ciliopathy
OFD1
Ciliopathy
KIF7
Ciliopathy
H3-3B
Pleomorphic Xanthoastrocytoma
Chondroblastoma