TaoMedAI/RareMedData huggingface dataset:
Gene: UBE2L3
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE2L3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: UBE3A
Phenotype: Poor speech (HP:0002465)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Poor speech (HP:0002465)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Poor speech (HP:0002465)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Sporadic (HP:0003745)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Motor delay (HP:0001270)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Seizure (HP:0001250)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Seizure (HP:0001250)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Seizure (HP:0001250)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Seizure (HP:0001250)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Seizure (HP:0001250)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Seizure (HP:0001250)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Ataxia (HP:0001251)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Ataxia (HP:0001251)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Ataxia (HP:0001251)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Ataxia (HP:0001251)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Ataxia (HP:0001251)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Polyphagia (HP:0002591)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Absent speech (HP:0001344)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Absent speech (HP:0001344)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Absent speech (HP:0001344)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Tremor (HP:0001337)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Myoclonus (HP:0001336)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Macroglossia (HP:0000158)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Wide mouth (HP:0000154)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Wide mouth (HP:0000154)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Wide mouth (HP:0000154)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Wide mouth (HP:0000154)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Wide mouth (HP:0000154)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Constipation (HP:0002019)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Constipation (HP:0002019)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Poor suck (HP:0002033)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Poor suck (HP:0002033)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Poor suck (HP:0002033)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Apraxia (HP:0002186)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Limitation of movement at ankles (HP:0010505)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Fair hair (HP:0002286)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Limb tremor (HP:0200085)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Clumsiness (HP:0002312)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Drooling (HP:0002307)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Drooling (HP:0002307)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Drooling (HP:0002307)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Drooling (HP:0002307)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)