TaoMedAI/RareMedData huggingface dataset:
Gene: HDAC6
Phenotype: Distal shortening of limbs (HP:0006402)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Death in infancy (HP:0001522)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Low-set ears (HP:0000369)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Low-set ears (HP:0000369)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Short philtrum (HP:0000322)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Short foot (HP:0001773)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: PDCD6IP
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Ataxia (HP:0001251)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Enlarged cerebellum (HP:0012081)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Emotional lability (HP:0000712)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: High forehead (HP:0000348)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Pointed chin (HP:0000307)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Hypoplastic philtrum (HP:0005326)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Strabismus (HP:0000486)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: PDCD6IP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: PDCD6IP
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Gene: SH2B3
Phenotype: Acute leukemia (HP:0002488)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: SH2B3
Phenotype: Peripheral thrombosis (HP:0002641)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Migraine (HP:0002076)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: SH2B3
Phenotype: Abnormal platelet morphology (HP:0011875)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Paresthesia (HP:0003401)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: SH2B3
Phenotype: Insomnia (HP:0100785)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Chest pain (HP:0100749)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: SH2B3
Phenotype: Plethora (HP:0001050)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Vertigo (HP:0002321)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Vertigo (HP:0002321)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Headache (HP:0002315)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Headache (HP:0002315)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Fever (HP:0001945)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Hypertension (HP:0000822)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Pallor (HP:0000980)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Purpura (HP:0000979)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Megakaryocyte nucleus hyperlobulation (HP:0031388)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Fatigue (HP:0012378)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Fatigue (HP:0012378)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: SH2B3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: SH2B3
Phenotype: Visual impairment (HP:0000505)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: SH2B3
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: SH2B3
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Increased red blood cell mass (HP:0001898)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: SH2B3
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: GNE
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Deposits immunoreactive to beta-amyloid protein (HP:0003791)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Increased level of N-acetylneuraminic acid in urine (HP:0410156)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Seizure (HP:0001250)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Seizure (HP:0001250)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Muscle weakness (HP:0001324)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Scoliosis (HP:0002650)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Macroglossia (HP:0000158)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Limited wrist extension (HP:0006251)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Menorrhagia (HP:0000132)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Abnormality of the foot musculature (HP:0001436)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Steppage gait (HP:0003376)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)