rank int64 1 16 | score float64 0.58 1 | disease_name stringlengths 4 127 | disease_identifier stringlengths 7 12 |
|---|---|---|---|
1 | 0.874 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
2 | 0.8616 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
3 | 0.8521 | Cardiac conduction disease with or without dilated cardiomyopathy | OMIM:616117 |
4 | 0.843 | Desminopathy | ORPHA:98909 |
5 | 0.8378 | Congenital myopathy 5 with cardiomyopathy | OMIM:611705 |
6 | 0.834 | Cockayne syndrome, type B | OMIM:133540 |
7 | 0.8324 | Cardiomyopathy, dilated, 1G | OMIM:604145 |
8 | 0.8278 | Ventricular tachycardia, catecholaminergic polymorphic, 1 | OMIM:604772 |
9 | 0.8198 | Autosomal dominant Emery-Dreifuss muscular dystrophy | ORPHA:98853 |
10 | 0.8196 | Cardiomyopathy, hypertrophic 6 | OMIM:600858 |
11 | 0.8194 | Cardiomyopathy, familial hypertrophic, 26 | OMIM:617047 |
12 | 0.8188 | Marfan lipodystrophy syndrome | OMIM:616914 |
13 | 0.8184 | Naxos disease | OMIM:601214 |
14 | 0.8182 | Autosomal recessive Emery-Dreifuss muscular dystrophy | ORPHA:98855 |
15 | 0.8175 | Cardiomyopathy, dilated, 1E | OMIM:601154 |
16 | 0.8174 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
1 | 0.8347 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
2 | 0.8335 | Cockayne syndrome, type B | OMIM:133540 |
3 | 0.8257 | Marfan lipodystrophy syndrome | OMIM:616914 |
4 | 0.8153 | Cardiac conduction disease with or without dilated cardiomyopathy | OMIM:616117 |
5 | 0.8128 | Mandibuloacral dysplasia with type B lipodystrophy | ORPHA:90154 |
6 | 0.8086 | Acquired partial lipodystrophy | ORPHA:79087 |
7 | 0.8065 | Ventricular tachycardia, catecholaminergic polymorphic, 1 | OMIM:604772 |
8 | 0.8041 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
9 | 0.8038 | Autosomal dominant Emery-Dreifuss muscular dystrophy | ORPHA:98853 |
10 | 0.8032 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
11 | 0.8013 | Autosomal recessive Emery-Dreifuss muscular dystrophy | ORPHA:98855 |
12 | 0.7995 | Cockayne syndrome, type A | OMIM:216400 |
13 | 0.7994 | Wiedemann-Rautenstrauch syndrome | ORPHA:3455 |
14 | 0.7974 | Lipodystrophy, familial partial, type 7 | OMIM:606721 |
15 | 0.7908 | Cardiomyopathy, dilated, 1E | OMIM:601154 |
16 | 0.7905 | Mandibuloacral dysplasia with type B lipodystrophy | OMIM:608612 |
1 | 0.8388 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
2 | 0.8339 | Cockayne syndrome, type B | OMIM:133540 |
3 | 0.8271 | Marfan lipodystrophy syndrome | OMIM:616914 |
4 | 0.8214 | Cardiac conduction disease with or without dilated cardiomyopathy | OMIM:616117 |
5 | 0.8188 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
6 | 0.8184 | Heart-hand syndrome, Slovenian type | ORPHA:168796 |
7 | 0.8176 | Cardiomyopathy, dilated, 1E | OMIM:601154 |
8 | 0.8156 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
9 | 0.8127 | Mandibuloacral dysplasia with type B lipodystrophy | ORPHA:90154 |
10 | 0.8065 | Autosomal dominant Emery-Dreifuss muscular dystrophy | ORPHA:98853 |
11 | 0.8045 | Autosomal recessive Emery-Dreifuss muscular dystrophy | ORPHA:98855 |
12 | 0.8041 | Cardiomyopathy, dilated, 1G | OMIM:604145 |
13 | 0.8034 | Wiedemann-Rautenstrauch syndrome | ORPHA:3455 |
14 | 0.801 | Atrial standstill, digenic (GJA5/SCN5A) | OMIM:108770 |
15 | 0.7999 | Cockayne syndrome, type A | OMIM:216400 |
16 | 0.7989 | Ventricular tachycardia, catecholaminergic polymorphic, 1 | OMIM:604772 |
1 | 0.8871 | Cardiac conduction disease with or without dilated cardiomyopathy | OMIM:616117 |
2 | 0.8868 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
3 | 0.8634 | Cardiomyopathy, hypertrophic 6 | OMIM:600858 |
4 | 0.8538 | Cardiomyopathy, dilated, 1D | OMIM:601494 |
5 | 0.8256 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
6 | 0.825 | Long QT syndrome 15 | OMIM:616249 |
7 | 0.8225 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | OMIM:616812 |
8 | 0.8221 | ?Sick sinus syndrome 4 | OMIM:619464 |
9 | 0.8218 | Sick sinus syndrome 2 | OMIM:163800 |
10 | 0.8159 | Atrial fibrillation, familial, 7 | OMIM:612240 |
11 | 0.8038 | Sick sinus syndrome 1 | OMIM:608567 |
12 | 0.7993 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
13 | 0.7941 | Cockayne syndrome, type B | OMIM:133540 |
14 | 0.7931 | Heart-hand syndrome, Slovenian type | ORPHA:168796 |
15 | 0.7876 | Congenital myopathy 7B, myosin storage, autosomal recessive | OMIM:255160 |
16 | 0.786 | Long QT syndrome 4 | OMIM:600919 |
1 | 0.8776 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
2 | 0.8217 | Myopathy, myofibrillar, 1 | OMIM:601419 |
3 | 0.8177 | ?Atrial fibrillation, familial, 18 | OMIM:617280 |
4 | 0.8043 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
5 | 0.7902 | Cardiac conduction disease with or without dilated cardiomyopathy | OMIM:616117 |
6 | 0.7884 | Congenital myopathy 5 with cardiomyopathy | OMIM:611705 |
7 | 0.7841 | Danon disease | OMIM:300257 |
8 | 0.7773 | Cockayne syndrome, type B | OMIM:133540 |
9 | 0.7763 | Cardiomyopathy, dilated, 1G | OMIM:604145 |
10 | 0.7727 | Heart block, progressive, type IA | OMIM:113900 |
11 | 0.771 | Immunodeficiency 87 and autoimmunity | OMIM:619573 |
12 | 0.77 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | OMIM:256040 |
13 | 0.7697 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
14 | 0.7685 | LEOPARD syndrome 1 | OMIM:151100 |
15 | 0.7682 | Cardiomyopathy, dilated, 1E | OMIM:601154 |
16 | 0.7679 | Cardiomyopathy, hypertrophic 6 | OMIM:600858 |
1 | 0.854 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
2 | 0.8245 | Myopathy, myofibrillar, 1 | OMIM:601419 |
3 | 0.8195 | ?Atrial fibrillation, familial, 18 | OMIM:617280 |
4 | 0.784 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
5 | 0.7773 | Cockayne syndrome, type B | OMIM:133540 |
6 | 0.7714 | Heart block, progressive, type IA | OMIM:113900 |
7 | 0.7696 | McLeod syndrome | OMIM:300842 |
8 | 0.769 | Immunodeficiency 87 and autoimmunity | OMIM:619573 |
9 | 0.7687 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
10 | 0.7679 | Cardiac conduction disease with or without dilated cardiomyopathy | OMIM:616117 |
11 | 0.7677 | Marfan lipodystrophy syndrome | OMIM:616914 |
12 | 0.7673 | Cardiomyopathy, dilated, 1E | OMIM:601154 |
13 | 0.7672 | LEOPARD syndrome 1 | OMIM:151100 |
14 | 0.7631 | Danon disease | OMIM:300257 |
15 | 0.7618 | Congenital myopathy 5 with cardiomyopathy | OMIM:611705 |
16 | 0.7568 | Autosomal dominant Emery-Dreifuss muscular dystrophy | ORPHA:98853 |
1 | 0.8317 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
2 | 0.825 | Cockayne syndrome, type B | OMIM:133540 |
3 | 0.8153 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
4 | 0.8148 | McLeod syndrome | OMIM:300842 |
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