TaoMedAI/RareMedData huggingface dataset:
Gene: COMT
Phenotype: Glaucoma (HP:0000501)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: COMT
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: COMT
Phenotype: Microphthalmia (HP:0000568)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: COMT
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: COMT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: COPA
Phenotype: Crescentic glomerulonephritis (HP:0008653)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Arthritis (HP:0001369)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Tachypnea (HP:0002789)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Dyspnea (HP:0002094)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Cough (HP:0012735)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Pulmonary hemorrhage (HP:0040223)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Arthralgia (HP:0002829)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Hemosiderin-laden macrophages in bronchoalveolar fluid (HP:0032979)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Mesangial hypercellularity (HP:0012574)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPA
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Gene: COPB1
Phenotype: Tapered finger (HP:0001182)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Spasticity (HP:0001257)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Inability to walk (HP:0002540)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Dystonia (HP:0001332)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Absent speech (HP:0001344)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Migraine (HP:0002076)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Striae distensae (HP:0001065)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Hirsutism (HP:0001007)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Kyphosis (HP:0002808)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Obesity (HP:0001513)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Pes planus (HP:0001763)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Cataract (HP:0000518)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: COPB1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Gene: KLF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: KLF6
Phenotype: Prostate cancer (HP:0012125)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: KLF6
Phenotype: Stomach cancer (HP:0012126)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: KLF6
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: KLF6
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: KLF6
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: SLC31A1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Decreased CSF copper concentration (HP:0034823)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Lethargy (HP:0001254)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Temperature instability (HP:0005968)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Abnormal circulating ceruloplasmin concentration (HP:0033144)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Abnormal circulating copper concentration (HP:0010836)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Glanular hypospadias (HP:0000807)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Short tibia (HP:0005736)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Short femur (HP:0003097)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: SLC31A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Gene: MAP3K8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: MAP3K8
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: MAP3K8
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: MAP3K8
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: MAP3K8
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: COX4I1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Poor head control (HP:0002421)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Elevated CSF fumarate concentration (HP:0033503)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Myoclonus (HP:0001336)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Short 5th toe (HP:0011917)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Short stature (HP:0004322)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Short 3rd toe (HP:0005643)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Short 5th finger (HP:0009237)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Short 4th toe (HP:0008093)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX4I1
Phenotype: Short 2nd toe (HP:0001885)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Gene: COX6A1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Gene: COX6A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6A2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Gene: COX6B1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Hyperketonemia (HP:0410175)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Proteinuria (HP:0000093)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)