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
|
1
|
1
|
|
Anemia, nonspherocytic hemolytic, due to g6pd deficiency
|
G6PD
|
XL
|
9
|
12
|
12
|
15
|
6
|
6
|
|
Angelman syndrome (AS)
|
UBE3A
|
AD
|
2
|
2
|
2
|
3
|
1
|
1
|
|
Angioedema, hereditary, type i (HAE1)
|
C1NH
|
AD
|
3
|
4
|
3
|
4
|
1
|
1
|
|
Aniridia (AN)
|
PAX6
|
AD
|
4
|
7
|
5
|
6
|
4
|
4
|
|
Aortic valve disease 1 (AOVD1)
|
NOTCH1
|
AD
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Argininosuccinic aciduria
|
ASL
|
AR
|
2
|
3
|
3
|
4
|
1
|
1
|
Arterial tortuosity syndrome
|
