TaoMedAI/RareMedData huggingface dataset:
Gene: DRC4
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: GATA1
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Reduced platelet alpha granules (HP:0033536)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Increased stool urobilinogen concentration (HP:0500115)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Abnormality of the thenar eminence (HP:0001227)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: Congenital dyserythropoietic anemia with thombocytopenia; Thrombocytopenia with congenital dyserythropoietic anemia; XDAT; X-linked congenital dyserythropoietic anemia with thrombocytopenia (ORPHA:67044)
Gene: GATA1
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Congenital dyserythropoietic anemia with thombocytopenia; Thrombocytopenia with congenital dyserythropoietic anemia; XDAT; X-linked congenital dyserythropoietic anemia with thrombocytopenia (ORPHA:67044)
Gene: GATA1
Phenotype: Severe photosensitivity (HP:0007537)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Increased erythrocyte protoporphyrin concentration (HP:0012187)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: Congenital dyserythropoietic anemia with thombocytopenia; Thrombocytopenia with congenital dyserythropoietic anemia; XDAT; X-linked congenital dyserythropoietic anemia with thrombocytopenia (ORPHA:67044)
Gene: GATA1
Phenotype: Abnormality of multiple cell lineages in the bone marrow (HP:0012145)
Associated disease: Congenital dyserythropoietic anemia with thombocytopenia; Thrombocytopenia with congenital dyserythropoietic anemia; XDAT; X-linked congenital dyserythropoietic anemia with thrombocytopenia (ORPHA:67044)
Gene: GATA1
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO (OMIM:301083)
Gene: GATA1
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Abnormal granulocytopoietic cell morphology (HP:0012135)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Osteolysis (HP:0002797)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Cleft lip (HP:0410030)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Seborrhoeic blepharitis (HP:0500046)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO (OMIM:301083)
Gene: GATA1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Purple urine (HP:0040322)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Red-brown urine (HP:0040320)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Scleritis (HP:0100532)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Porphyrinuria (HP:0010473)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Abnormal circulating porphyrin concentration (HP:0010472)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Beta-thalassemia-X-linked thrombocytopenia syndrome; XLTT (ORPHA:231393)
Gene: GATA1
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Beta-thalassemia-X-linked thrombocytopenia syndrome; XLTT (ORPHA:231393)
Gene: GATA1
Phenotype: Paresthesia (HP:0003401)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Fragile skin (HP:0001030)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Keratoconjunctivitis (HP:0001096)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Thickened skin (HP:0001072)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Skin erosion (HP:0200041)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Radial artery aplasia (HP:0020118)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Scarring (HP:0100699)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Absent thumb (HP:0009777)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Short thumb (HP:0009778)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Transient myeloproliferative syndrome (HP:0005534)
Associated disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT (OMIM:159595)
Gene: GATA1
Phenotype: Macrocytic dyserythropoietic anemia (HP:0005532)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT (OMIM:159595)
Gene: GATA1
Phenotype: Blindness (HP:0000618)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO (OMIM:301083)
Gene: GATA1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: Congenital dyserythropoietic anemia with thombocytopenia; Thrombocytopenia with congenital dyserythropoietic anemia; XDAT; X-linked congenital dyserythropoietic anemia with thrombocytopenia (ORPHA:67044)
Gene: GATA1
Phenotype: Anemia (HP:0001903)
Associated disease: Beta-thalassemia-X-linked thrombocytopenia syndrome; XLTT (ORPHA:231393)
Gene: GATA1
Phenotype: Congenital thrombocytopenia (HP:0001905)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Ectropion (HP:0000656)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Increased RBC distribution width (HP:0031965)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Abnormal reticulocyte morphology (HP:0004312)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Loss of eyelashes (HP:0011457)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO (OMIM:301083)
Gene: GATA1
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: Congenital dyserythropoietic anemia with thombocytopenia; Thrombocytopenia with congenital dyserythropoietic anemia; XDAT; X-linked congenital dyserythropoietic anemia with thrombocytopenia (ORPHA:67044)
Gene: GATA1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Gene: GATA1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Erythrodontia (HP:0030756)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: Congenital dyserythropoietic anemia with thombocytopenia; Thrombocytopenia with congenital dyserythropoietic anemia; XDAT; X-linked congenital dyserythropoietic anemia with thrombocytopenia (ORPHA:67044)
Gene: GATA1
Phenotype: Reduced erythrocyte adenosine triphosphate concentration (HP:4000184)
Associated disease: ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO (OMIM:301083)
Gene: GATA1
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Pruritus (HP:0000989)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Increased fecal coproporphyrin 1 (HP:0033009)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Edema (HP:0000969)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Petechiae (HP:0000967)
Associated disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Gene: GATA1
Phenotype: Petechiae (HP:0000967)
Associated disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Gene: GATA1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: Congenital dyserythropoietic anemia with thombocytopenia; Thrombocytopenia with congenital dyserythropoietic anemia; XDAT; X-linked congenital dyserythropoietic anemia with thrombocytopenia (ORPHA:67044)
Gene: GATA1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Abnormality of the head (HP:0000234)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Increased urinary porphobilinogen (HP:0012217)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: High palate (HP:0000218)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Abnormality of the amniotic fluid (HP:0001560)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Growth delay (HP:0001510)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO (OMIM:301083)
Gene: GATA1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: GATA1
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: GATA1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)