| Autosomal dominant cutis laxa |
90348 |
ALDH18A1
|
|
|
FBLN5
|
|
|
ELN
|
|
| Autosomal recessive cutis laxa type 1 |
90349 |
EFEMP2
|
|
|
FBLN5
|
|
| Autosomal recessive cutis laxa type 2, classic type |
357074 |
ATP6V1E1
|
|
|
ATP6V1A
|
|
|
ATP6V0A2
|
|
| Autosomal recessive cutis laxa type 2B |
357064 |
PYCR1
|
|
| Cutis Laxa |
C0010495 |
ABCC6
|
|
|
ATP6AP1
|
29396028 |
|
ATP7A
|
20170900 |
|
COL5A1
|
|
|
MEGF8
|
|
|
ELN
|
10970822, 12189163 |
|
EZH2
|
|
|
FBN1
|
|
|
GGCX
|
|
|
GSN
|
|
|
PYCR1
|
24035636, 19576563, 19648921, 26516448, 22829427 |
|
ALDH18A1
|
|
|
RPS6KA3
|
|
|
NAA10
|
|
|
LTBP4
|
22829427 |
|
SLC7A7
|
|
|
OSMR
|
|
|
CHST3
|
|
|
PTDSS1
|
|
|
CD96
|
|
|
FBLN5
|
22829427 |
|
MAN1B1
|
|
|
B4GALT7
|
|
|
ATP6V0A2
|
|
|
B3GAT3
|
|
|
EFEMP2
|
22829427 |
|
MLXIPL
|
|
|
NBAS
|
|
|
WDR35
|
|
|
WDR19
|
|
|
BCL11B
|
|
|
SRD5A3
|
|
|
SLC2A10
|
|
|
GORAB
|
|
|
IFT43
|
|
|
B3GALT6
|
|
|
FAM120AOS
|
|
| Cutis Laxa, Autosomal Dominant |
C0268350 |
ELN
|
16085695, 18348261, 9215671, 21309044 |
|
ALDH18A1
|
26320891 |
|
FBLN5
|
12618961 |
| CUTIS LAXA, AUTOSOMAL DOMINANT 1 |
C3276539 |
ELN
|
16085695 |
| CUTIS LAXA, AUTOSOMAL DOMINANT 3 |
C4225268 |
ALDH18A1
|
26297558, 26026163, 26320891, 22829427, 29903433, 18388779, 24913064 |
| Cutis Laxa, Autosomal Recessive, Type I |
C0268351 |
FBLN5
|
12189163, 17035250, 18185537, 20007835, 20599547, 16691202, 22829427, 16652333 |
|
EFEMP2
|
19664000, 16685658 |
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB |
C3280798 |
EFEMP2
|
2038931, 17937443, 22943132, 27339457, 16685658, 19664000 |
|
MUS81
|
|
| Cutis Laxa, Autosomal Recessive, Type IIA |
C0268355 |
ATP6V1A
|
28065471 |
|
ATP6V1E1
|
28065471 |
|
ATP6V0A2
|
22773132, 18157129, 19321599, 22829427 |
| Cutis Laxa, Autosomal Recessive, Type IIB |
C2751987 |
PYCR1
|
27604308, 19648921, 11424136, 26516448, 19576563, 28294978 |
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC |
C4479387 |
ATP6V1A
|
28065471 |
|
ATP6V1E1
|
28065471 |
|
ATP6V0A2
|
19321599, 18157129 |
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID |
C4479409 |
ATP6V1A
|
28065471 |
|
ATP6V1E1
|
28065471 |
|
ATP6V0A2
|
18157129, 19321599 |
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB |
C3280799 |
PYCR1
|
19648921, 22052856, 27604308, 28294978 |
| Cutis laxa, recessive |
C2931134 |
FBLN5
|
12189163 |
| Cutis laxa, recessive, type I |
C0432336 |
FBLN5
|
22829427 |
|
EFEMP2
|
16685658, 19664000 |
