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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