TaoMedAI/RareMedData huggingface dataset:
Gene: GNPNAT1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Short neck (HP:0000470)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Ptosis (HP:0000508)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Long foot (HP:0001833)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC13A3
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Dysmetria (HP:0001310)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Elevated urine N-acetylaspartic acid level (HP:0034649)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Drowsiness (HP:0002329)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Elevated CSF alpha-ketoglutarate concentration (HP:6000468)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Increased urine succinate level (HP:0033092)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: SLC13A3
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Gene: VWA1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Myalgia (HP:0003326)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Paresthesia (HP:0003401)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Scapular winging (HP:0003691)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: VWA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Gene: PLEKHG2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: PLEKHG2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Gene: DCLRE1B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Pancolitis (HP:0033256)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Infantile onset (HP:0003593)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Hypotelorism (HP:0000601)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Petechiae (HP:0000967)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Premature birth (HP:0001622)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: DCLRE1B
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Gene: NABP1
Phenotype: Chronic infection (HP:0031035)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Bone pain (HP:0002653)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Productive cough (HP:0031245)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Anorexia (HP:0002039)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Gangrene (HP:0100758)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Vertigo (HP:0002321)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Metrorrhagia (HP:0100608)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Fever (HP:0001945)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Anemia (HP:0001903)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Hematuria (HP:0000790)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Stomatitis (HP:0010280)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Purpura (HP:0000979)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Petechiae (HP:0000967)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Fatigue (HP:0012378)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Epistaxis (HP:0000421)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Weight loss (HP:0001824)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: NABP1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RFX7
Phenotype: Long fingers (HP:0100807)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)