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Total: 4312 results


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Rank
(Similarity)		 Gene
Matched Phenotype  Disease Name  Modes of Inheritance

1
(90.1%)

EPB42

Fever Hemolytic anemia Jaundice Spherocytosis Splenomegaly

hereditary spherocytosis type 5 (OMIM) Hereditary spherocytosis (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

1
(90.1%)

SPTB

Hemolytic anemia Hydrops fetalis Jaundice Spherocytosis Splenomegaly

hereditary spherocytosis type 2 (OMIM) Hereditary elliptocytosis (ORDO) Hereditary spherocytosis (ORDO)

Autosomal dominant inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

1
(90.1%)

SPTA1

Hemolytic anemia Hydrops fetalis Jaundice Spherocytosis Splenomegaly

elliptocytosis 2 (OMIM) pyropoikilocytosis, hereditary (OMIM) hereditary spherocytosis type 3 (OMIM) Hereditary elliptocytosis (ORDO) Hereditary spherocytosis (ORDO)

Autosomal dominant inheritance Heterogeneous Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

1
(90.1%)

ANK1

Fever Hemolytic anemia Jaundice Spherocytosis Splenomegaly

hereditary spherocytosis type 1 (OMIM) 8p11.2 deletion syndrome (ORDO) Hereditary spherocytosis (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

1
(90.1%)

SLC4A1

Edema Hemolytic anemia Jaundice Spherocytosis Splenomegaly

southeast Asian ovalocytosis (OMIM) autosomal dominant distal renal tubular acidosis (OMIM) cryohydrocytosis (OMIM) renal tubular acidosis, distal, 4, with hemolytic anemia (OMIM) hereditary spherocytosis type 4 (OMIM) Dehydrated hereditary stomatocytosis (ORDO) Hereditary spherocytosis (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

6
(87.7%)

CDAN1

Hydrops fetalis Macrocytic dyserythropoietic anemia Poikilocytosis Prolonged neonatal jaundice Splenomegaly

anemia, congenital dyserythropoietic, type 1a (OMIM)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

6
(87.7%)

GYPC

Congenital hemolytic anemia Elliptocytosis Hydrops fetalis Prolonged neonatal jaundice Splenomegaly

Hereditary elliptocytosis (ORDO)

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

6
(87.7%)

G6PD

Fava bean-induced hemolytic anemia Fever Poikilocytosis Prolonged neonatal jaundice Splenomegaly

anemia, nonspherocytic hemolytic, due to G6PD deficiency (OMIM)

X-linked recessive inheritance X-linked dominant inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

6
(87.7%)

RHAG

Hemolytic anemia Hyperbilirubinemia Jaundice Splenomegaly Stomatocytosis

overhydrated hereditary stomatocytosis (OMIM) Rh deficiency syndrome (OMIM) Overhydrated hereditary stomatocytosis (ORDO)

Autosomal dominant inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

6
(87.7%)

EPB41

Elliptocytosis Hemolytic anemia Hydrops fetalis Jaundice Splenomegaly

elliptocytosis 1 (OMIM) Hereditary elliptocytosis (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb