Table 1 The top 20 high-frequency keywords of artificial intelligence applications in rare diseases

1

Mutation

146

0.21

11

Phenotype

43

0.05

2

Diagnosis

126

0.16

12

Algorithm

41

0.07

3

Management

88

0.19

13

Association

41

0.04

4

Gene

73

0.12

14

Therapy

36

0.04

5

Variant

55

0.08

15

Protein

36

0.06

6

Identification

53

0.09

16

Database

34

0.03

7

Classification

53

0.08

17

Prevalence

34

0.03

8

Children

52

0.07

18

Discovery

32

0.04

9

Expression

49

0.08

19

Disorder

29

0.05

10

Cancer

46

0.07

20

Model

23

0.01