rank int64 1 16 | score float64 0.58 1 | disease_name stringlengths 4 127 | disease_identifier stringlengths 7 12 |
|---|---|---|---|
1 | 0.8474 | Distal renal tubular acidosis 1 | OMIM:179800 |
2 | 0.8031 | Renal tubular acidosis, proximal, with ocular abnormalities | OMIM:604278 |
3 | 0.7718 | Distal renal tubular acidosis 4 with hemolytic anemia | OMIM:611590 |
4 | 0.7365 | Distal renal tubular acidosis 3, with or without sensorineural hearing loss | OMIM:602722 |
5 | 0.7307 | Pseudohypoaldosteronism, type IIC | OMIM:614492 |
6 | 0.7209 | Osteopetrosis with renal tubular acidosis | ORPHA:2785 |
7 | 0.7158 | Infantile nephropathic cystinosis | ORPHA:411629 |
8 | 0.7139 | Primary Fanconi renotubular syndrome | ORPHA:3337 |
9 | 0.703 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | OMIM:259730 |
10 | 0.7005 | Hypomagnesemia 3, renal | OMIM:248250 |
11 | 0.693 | SESAME syndrome | OMIM:612780 |
12 | 0.6767 | Diarrhea 1, secretory chloride, congenital | OMIM:214700 |
13 | 0.672 | Developmental and epileptic encephalopathy 50 | OMIM:616457 |
14 | 0.6695 | Fanconi renotubular syndrome 5 | OMIM:618913 |
15 | 0.666 | Pseudohypoaldosteronism, type IIE | OMIM:614496 |
16 | 0.6641 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | OMIM:146255 |
1 | 0.8474 | Distal renal tubular acidosis 1 | OMIM:179800 |
2 | 0.8031 | Renal tubular acidosis, proximal, with ocular abnormalities | OMIM:604278 |
3 | 0.7718 | Distal renal tubular acidosis 4 with hemolytic anemia | OMIM:611590 |
4 | 0.7365 | Distal renal tubular acidosis 3, with or without sensorineural hearing loss | OMIM:602722 |
5 | 0.7307 | Pseudohypoaldosteronism, type IIC | OMIM:614492 |
6 | 0.7209 | Osteopetrosis with renal tubular acidosis | ORPHA:2785 |
7 | 0.7158 | Infantile nephropathic cystinosis | ORPHA:411629 |
8 | 0.7139 | Primary Fanconi renotubular syndrome | ORPHA:3337 |
9 | 0.703 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | OMIM:259730 |
10 | 0.7005 | Hypomagnesemia 3, renal | OMIM:248250 |
11 | 0.693 | SESAME syndrome | OMIM:612780 |
12 | 0.6767 | Diarrhea 1, secretory chloride, congenital | OMIM:214700 |
13 | 0.672 | Developmental and epileptic encephalopathy 50 | OMIM:616457 |
14 | 0.6695 | Fanconi renotubular syndrome 5 | OMIM:618913 |
15 | 0.666 | Pseudohypoaldosteronism, type IIE | OMIM:614496 |
16 | 0.6641 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | OMIM:146255 |
1 | 0.8712 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
2 | 0.8263 | Myopathy, myofibrillar, 1 | OMIM:601419 |
3 | 0.8216 | ?Atrial fibrillation, familial, 18 | OMIM:617280 |
4 | 0.8012 | Heart block, progressive, type IA | OMIM:113900 |
5 | 0.8001 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
6 | 0.7865 | Congenital myopathy 5 with cardiomyopathy | OMIM:611705 |
7 | 0.7797 | Cockayne syndrome, type B | OMIM:133540 |
8 | 0.7781 | Cardiac conduction disease with or without dilated cardiomyopathy | OMIM:616117 |
9 | 0.7764 | Ventricular tachycardia, catecholaminergic polymorphic, 1 | OMIM:604772 |
10 | 0.7708 | LEOPARD syndrome 1 | OMIM:151100 |
11 | 0.7707 | Immunodeficiency 87 and autoimmunity | OMIM:619573 |
12 | 0.7703 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
13 | 0.7695 | Autosomal dominant Emery-Dreifuss muscular dystrophy | ORPHA:98853 |
14 | 0.7687 | McLeod syndrome | OMIM:300842 |
15 | 0.7677 | Autosomal recessive Emery-Dreifuss muscular dystrophy | ORPHA:98855 |
16 | 0.7674 | Cardiomyopathy, dilated, 1E | OMIM:601154 |
1 | 0.8712 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
2 | 0.8422 | Danon disease | OMIM:300257 |
3 | 0.8044 | Long QT syndrome 15 | OMIM:616249 |
4 | 0.8024 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
5 | 0.795 | Atrial standstill | ORPHA:1344 |
6 | 0.791 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | OMIM:616812 |
7 | 0.7904 | ?Cardiomyopathy, dilated, 1OO | OMIM:620247 |
8 | 0.7888 | Congenital myopathy 5 with cardiomyopathy | OMIM:611705 |
9 | 0.7821 | Cockayne syndrome, type B | OMIM:133540 |
10 | 0.7805 | Long QT syndrome 14 | OMIM:616247 |
11 | 0.7803 | Cardiac conduction disease with or without dilated cardiomyopathy | OMIM:616117 |
12 | 0.7786 | Ventricular tachycardia, catecholaminergic polymorphic, 1 | OMIM:604772 |
13 | 0.7727 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
14 | 0.7717 | Autosomal dominant Emery-Dreifuss muscular dystrophy | ORPHA:98853 |
15 | 0.7709 | McLeod syndrome | OMIM:300842 |
16 | 0.7699 | Autosomal recessive Emery-Dreifuss muscular dystrophy | ORPHA:98855 |
1 | 0.8868 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
2 | 0.869 | Cardiac conduction disease with or without dilated cardiomyopathy | OMIM:616117 |
3 | 0.8407 | Cardiomyopathy, hypertrophic 6 | OMIM:600858 |
4 | 0.8404 | Cardiomyopathy, dilated, 1D | OMIM:601494 |
5 | 0.8343 | ?Sick sinus syndrome 4 | OMIM:619464 |
6 | 0.8342 | Sick sinus syndrome 2 | OMIM:163800 |
7 | 0.832 | Long QT syndrome 15 | OMIM:616249 |
8 | 0.8307 | Atrial standstill, digenic (GJA5/SCN5A) | OMIM:108770 |
9 | 0.8289 | ?Atrial fibrillation, familial, 18 | OMIM:617280 |
10 | 0.8241 | Brugada syndrome | ORPHA:130 |
11 | 0.8227 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | OMIM:181350 |
12 | 0.8217 | Congenital myopathy 24 | OMIM:617336 |
13 | 0.8145 | Emery-Dreifuss muscular dystrophy 1, X-linked | OMIM:310300 |
14 | 0.8131 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
15 | 0.8112 | Atrial fibrillation, familial, 7 | OMIM:612240 |
16 | 0.808 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | OMIM:616812 |
1 | 0.854 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
2 | 0.8418 | Atrial standstill, digenic (GJA5/SCN5A) | OMIM:108770 |
3 | 0.8379 | Congenital myopathy 24 | OMIM:617336 |
4 | 0.8183 | ?Atrial fibrillation, familial, 18 | OMIM:617280 |
5 | 0.8159 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | OMIM:181350 |
6 | 0.8123 | Brugada syndrome | ORPHA:130 |
7 | 0.8094 | Cardiomyopathy, dilated, 1V | OMIM:613697 |
8 | 0.8037 | Emery-Dreifuss muscular dystrophy 1, X-linked | OMIM:310300 |
9 | 0.8014 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | ORPHA:300751 |
10 | 0.7965 | Myotonic dystrophy 1 | OMIM:160900 |
11 | 0.7957 | Cockayne syndrome, type B | OMIM:133540 |
12 | 0.7917 | Left ventricular noncompaction 1, with or without congenital heart defects | OMIM:604169 |
13 | 0.7879 | Atrial septal defect, ostium secundum type | ORPHA:99103 |
14 | 0.787 | Nestor-Guillermo progeria syndrome | OMIM:614008 |
15 | 0.7869 | McLeod syndrome | OMIM:300842 |
16 | 0.7861 | Marfan lipodystrophy syndrome | OMIM:616914 |
1 | 0.882 | Cardiomyopathy, dilated, 1A | OMIM:115200 |
2 | 0.8459 | Myopathy, myofibrillar, 1 | OMIM:601419 |
3 | 0.8386 | ?Atrial fibrillation, familial, 18 | OMIM:617280 |
4 | 0.814 | Heart block, progressive, type IA | OMIM:113900 |
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