Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		disease 0.500 None 1.000 0 0 1992 2017
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.350 None 1.000 0 0 1997 2011
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		disease 0.110 None 1.000 0 0 1996 1996
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C4023007
Disease: Increased erythrocyte protoporphyrin concentration
Increased erythrocyte protoporphyrin concentration 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		disease 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0030232
Disease: Pallor
Pallor 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C4023583
Disease: Abnormality of iron homeostasis
Abnormality of iron homeostasis 		phenotype 0.100 None 0 0