TaoMedAI/RareMedData huggingface dataset:
Gene: TBL1XR1
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: TBL1XR1
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: TBL1XR1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
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: TBL1XR1
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
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: TBL1XR1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
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: TBL1XR1
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: TBL1XR1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
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: TBL1XR1
Phenotype: Short palm (HP:0004279)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
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: TBL1XR1
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: TBL1XR1
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: TBL1XR1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Long upper lip (HP:0011341)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Long upper lip (HP:0011341)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Short stature (HP:0004322)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Abnormal peripheral nervous system morphology (HP:0000759)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
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: TBL1XR1
Phenotype: Short nose (HP:0003196)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
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: TBL1XR1
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: TBL1XR1
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: TBL1XR1
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: TBL1XR1
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Short finger (HP:0009381)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Short finger (HP:0009381)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Broad face (HP:0000283)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Full cheeks (HP:0000293)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Malar flattening (HP:0000272)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
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: TBL1XR1
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: TBL1XR1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
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: TBL1XR1
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: TBL1XR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
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: TBL1XR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: High forehead (HP:0000348)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: High forehead (HP:0000348)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
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: TBL1XR1
Phenotype: Unilateral narrow palpebral fissure (HP:0007946)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Macrotia (HP:0000400)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Strabismus (HP:0000486)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Strabismus (HP:0000486)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Microcornea (HP:0000482)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Microcornea (HP:0000482)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Short neck (HP:0000470)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Short neck (HP:0000470)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Short foot (HP:0001773)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Broad foot (HP:0001769)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Pes planus (HP:0001763)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Wide nose (HP:0000445)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
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: TBL1XR1
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: TBL1XR1
Phenotype: Telecanthus (HP:0000506)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Short toe (HP:0001831)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Short toe (HP:0001831)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
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: TBL1XR1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
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: TBL1XR1
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: TBL1XR1
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: TBL1XR1
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: AAGAB
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Gene: AAGAB
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Punctate palmoplantar hyperkeratosis (HP:0007530)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Gene: AAGAB
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Gene: AAGAB
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Adenocarcinoma of the small intestine (HP:0040274)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Middle age onset (HP:0003596)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Gene: AAGAB
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)