dx_characterization_scores.csv

patient_id,diseases,similarities,correct_label,disease_ids
UDN-P7,autosomal recessive limb-girdle muscular dystrophy type 2B,0.0004265006864443,0,[268]
UDN-P7,GNE myopathy,0.0004263115406502,0,[602]
UDN-P7,MYH7-related late-onset scapuloperoneal muscular dystrophy,0.0004259833076503,0,[437572]
UDN-P7,"Emery-Dreifuss muscular dystrophy 2, autosomal dominant",0.0004257017571944,0,[264]
UDN-P7,autosomal recessive limb-girdle muscular dystrophy type 2G,0.0004251024511177,0,[34514]
UDN-P7,autosomal recessive limb-girdle muscular dystrophy type 2C,0.0004250344645697,0,[353]
UDN-P7,myofibrillar myopathy 4,0.0004249221819918,0,[98912]
UDN-P7,autosomal recessive limb-girdle muscular dystrophy type 2Q,0.0004244803567416,0,[254361]
UDN-P7,distal myopathy with posterior leg and anterior hand involvement,0.0004238819237798,0,[63273]
UDN-P7,autosomal recessive limb-girdle muscular dystrophy type 2I,0.000423846533522,0,[34515]
UDN-P9,multiple epiphyseal dysplasia type 1,0.0004178489616606,0,[93308]
UDN-P9,progressive pseudorheumatoid arthropathy of childhood,0.0004172090848442,0,[1159]
UDN-P9,multiple epiphyseal dysplasia type 5,0.0004147714353166,0,[93311]
UDN-P9,"metaphyseal chondrodysplasia, Spahr type",0.000414393376559,0,[2501]
UDN-P9,Multiple epiphyseal dysplasia,0.0004142468678764,0,Multiple epiphyseal dysplasia
UDN-P9,spondyloepiphyseal dysplasia congenita,0.0004140565870329,0,[94068]
UDN-P9,"spondyloepiphyseal dysplasia tarda, X-linked",0.0004133584443479,0,10737
UDN-P9,"spondylometaphyseal dysplasia, 'corner fracture' type",0.0004127403371967,0,[93315]
UDN-P9,pseudoachondroplasia,0.0004125143168494,0,[750]
UDN-P9,Coxa vara,0.000412239722209,0,Coxa vara
UDN-P8,combined oxidative phosphorylation deficiency 39,0.0003771049669012,0,[565624]
UDN-P8,"leukodystrophy, hypomyelinating, 20",0.0003728091833181,0,33657
UDN-P8,pyruvate dehydrogenase E3-binding protein deficiency,0.0003713524783961,0,[255182]
UDN-P8,intellectual disability-epilepsy-extrapyramidal syndrome,0.000369677611161,0,[468620]
UDN-P8,combined oxidative phosphorylation defect type 27,0.0003694282495416,0,[477774]
UDN-P8,severe Canavan disease,0.0003670282894745,0,[314911]
UDN-P8,guanidinoacetate methyltransferase deficiency,0.0003666807315312,0,[382]
UDN-P8,"neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures",0.0003646771074272,0,[572798]
UDN-P8,pyruvate dehydrogenase phosphatase deficiency,0.0003641054208856,0,[79246]
UDN-P8,childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,0.00036309598363,0,[500180]
UDN-P2,methylmalonic aciduria and homocystinuria type cblF,0.0003374280931893,0,[79284]
UDN-P2,neonatal hemochromatosis,0.0003332369087729,0,[446]
UDN-P2,homozygous 11P15-p14 deletion syndrome,0.0003293412737548,0,11678
UDN-P2,ALG8-CDG,0.000328178924974,0,[79325]
UDN-P2,congenital anemia,0.000324971275404,0,577
UDN-P2,familial thyroid dyshormonogenesis 1,0.0003192963486071,0,20716
UDN-P2,congenital hypothyroidism due to maternal intake of antithyroid drugs,0.0003163111105095,0,[226313]
UDN-P2,"methylmalonic acidemia with homocystinuria, type cblJ",0.000315255660098,0,[369955]
UDN-P2,COG6-CGD,0.0003150861884932,0,[464443]
UDN-P2,congenital toxoplasmosis,0.0003135850711259,0,[858]