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Southeast Asian ovalocytosis
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary spherocytosis
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Osteopetrosis with renal tubular acidosis
8p11.2 deletion syndrome
Retinitis pigmentosa
Familial melanoma
Familial pancreatic carcinoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Atrial septal defect, ostium secundum type
Familial isolated dilated cardiomyopathy
Left ventricular noncompaction
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant methemoglobinemia
Hb Bart's hydrops fetalis
Hemoglobin H disease
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Overhydrated hereditary stomatocytosis
Rh deficiency syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC4A1 P02730109270
No signs/symptoms info available.