TaoMedAI/RareMedData huggingface dataset:
Gene: SLC2A3
Phenotype: Weight loss (HP:0001824)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC3A1
Phenotype: Seizure (HP:0001250)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Polyphagia (HP:0002591)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC3A1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC3A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC3A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC3A1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Ornithinuria (HP:0003532)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC3A1
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC3A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Cystinuria (HP:0003131)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC3A1
Phenotype: Cystinuria (HP:0003131)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Cystinuria (HP:0003131)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Hyperlysinuria (HP:0003297)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC3A1
Phenotype: Argininuria (HP:0003268)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC3A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Retrognathia (HP:0000278)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Growth delay (HP:0001510)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Growth delay (HP:0001510)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Fatigue (HP:0012378)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC3A1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: SLC3A1
Phenotype: Ptosis (HP:0000508)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: SLC4A1
Phenotype: Chills (HP:0025143)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Hypochromia (HP:0032231)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Lethargy (HP:0001254)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Ataxia (HP:0001251)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Impaired urinary acidification (HP:0031033)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRYOHYDROCYTOSIS (OMIM:185020)
Gene: SLC4A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Gene: SLC4A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVALOCYTOSIS, SOUTHEAST ASIAN (OMIM:166900)
Gene: SLC4A1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Rickets (HP:0002748)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Osteomalacia (HP:0002749)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Myalgia (HP:0003326)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Pulmonary venous hypertension (HP:0030950)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Anorexia (HP:0002039)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Distal renal tubular acidosis (HP:0008341)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Distal renal tubular acidosis (HP:0008341)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Congenital hemolytic anemia (HP:0004804)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Intermittent jaundice (HP:0001046)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Spontaneous hemolytic crises (HP:0005525)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Gene: SLC4A1
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Schistocytosis (HP:0001981)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Fever (HP:0001945)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: CRYOHYDROCYTOSIS (OMIM:185020)
Gene: SLC4A1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Gene: SLC4A1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Anemia (HP:0001903)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Polycythemia (HP:0001901)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Gout (HP:0001997)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Short stature (HP:0004322)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Gene: SLC4A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: CRYOHYDROCYTOSIS (OMIM:185020)
Gene: SLC4A1
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: OVALOCYTOSIS, SOUTHEAST ASIAN (OMIM:166900)
Gene: SLC4A1
Phenotype: Spherocytosis (HP:0004444)
Associated disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Gene: SLC4A1
Phenotype: Spherocytosis (HP:0004444)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Pseudohyperkalemia (HP:4000194)
Associated disease: CRYOHYDROCYTOSIS (OMIM:185020)
Gene: SLC4A1
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Pallor (HP:0000980)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Jaundice (HP:0000952)
Associated disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Gene: SLC4A1
Phenotype: Edema (HP:0000969)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Isothenuria (HP:0030036)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Growth delay (HP:0001510)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Abnormal circulating potassium concentration (HP:0011042)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Gene: SLC4A1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Gene: SLC4A1
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Portal vein thrombosis (HP:0030242)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Episodic fatigue (HP:0012431)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CRYOHYDROCYTOSIS (OMIM:185020)
Gene: SLC4A1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SLC4A1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Gene: SLC4A1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: CRYOHYDROCYTOSIS (OMIM:185020)
Gene: SLC4A1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Gene: SLC4A1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: OVALOCYTOSIS, SOUTHEAST ASIAN (OMIM:166900)
Gene: SLC4A1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Gene: SLC4A1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: SLC4A2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Thick skull base (HP:0002737)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Adult onset (HP:0003581)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Papilledema (HP:0001085)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Stage 3 chronic kidney disease (HP:0012625)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Cortical sclerosis (HP:0005652)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC4A2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Gene: SLC5A1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Malabsorption (HP:0002024)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Vomiting (HP:0002013)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Osmotic diarrhea (HP:0033310)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Dehydration (HP:0001944)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Fever (HP:0001945)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Hypertonic dehydration (HP:0001986)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Glycosuria (HP:0003076)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Hematuria (HP:0000790)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)