ABCD1
|
XL
|
17
|
33
|
20
|
29
|
11
|
11
|
|
Agammaglobulinemia, X‐linked (XLA)
|
BTK
|
XL
|
4
|
7
|
7
|
13
|
3
|
3
|
|
Aicardi–Goutieres syndrome 5 (AGS5 + CF)
|
SAMHD1
|
AR
|
1
|
2
|
2
|
2
|
1
|
1
|
|
Alagille syndrome 1 (ALGS1)
|
JAG1
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Albinism, ocular, type i (OA1)
|
GPR143
|
XL
|
1
|
12
|
5
|
9
|
4
|
3
|
|
Albinism, oculocutaneous, type ia (OCA1a)
|
TYR
|
AR
|
4
|
7
|
6
|
9
|
3
|
3
|
|
Albinism, oculocutaneous, type ii (OCA2)
|
OCA2
|
AR
|
3
|
6
|
5
|
9
|
3
|
3
|
|
Albinism, oculocutaneous, type iii (OCA3)
|
TYRP1
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Allan–Herndon–Dudley syndrome (AHDS)
|
SLC16A2
|
XL
|
1
|
2
|
2
|
2
|
1
|
1
|
|
Alopecia universalis congenita (ALUNC)
|
HR
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Alpha‐1‐antitrypsin deficiency (A1ATD)
|
SERPINA1
|
AR
|
9
|
16
|
14
|
18
|
9
|
8
|
|
Alport syndrome, autosomal dominant
|
COL4A3
|
AR
|
1
|
4
|
0
|
0
|
0
|
0
|
|
Alport syndrome, X‐linked (ATS)
|
COL4A5
|
XL
|
8
|
16
|
15
|
22
|
10
|
9
|
|
Alzheimer disease 3
|
PSEN1
|
AD
|
2
|
3
|
3
|
6
|
3
|
3
|
|
Alzheimer disease 4
|
PSEN2
|
AD
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Alzheimer disease (AD)
|
APP
|
AD
|
2
|
3
|
2
|
4
|
2
|
1
|
|
Amegakaryocytic thrombocytopenia, congenital (CAMT)
|
MPL
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Amyloidosis, hereditary, transthyretin‐related
|
TTR
|
AD
|
3
|
7
|
5
|
6
|
3
|
2
|
|
Amyotrophic lateral sclerosis 1 (ALS1)
|
SOD1
|
XL
|
2
|
2
|
2
|
3
|
2
|
1
|
|
Amyotrophic lateral sclerosis 4, juvenile (ALS4)
|
SETX
|
AD
|
1
|
1
|
1
|
1
|
|
