Mucopolysaccharidosis

Disease Term Disease ID Gene Symbol Classification References Source
MUCOPOLYSACCHARIDOSES
C0026703
ARSK Unknown — Disgenet
HYAL1 Unknown — Disgenet
IDUA Unknown — Disgenet
SLC26A1 Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS I
C0023786MESH:D008059
IDUA Unknown
11159948 15081804 15194053 19309154 22822036
CTD Disgenet
SLC26A1 Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS II
C0026705MESH:D016532
IDS Unknown — CTD Disgenet
IDUA Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS III
C0026706MESH:D009084
CARD14 Unknown — Disgenet
COASY Unknown — Disgenet
GNS Unknown
3391615
CTD Disgenet
HGSNAT Unknown — CTD Disgenet
NAGLU Unknown — CTD Disgenet
SGSH Unknown — CTD Disgenet
SLC26A11 Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS III-C
C0086649
HGSNAT Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS III-D
C0086650
GNS Unknown — Disgenet
MOK Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS IV
C0026707MESH:D009085
GALNS Unknown — CTD Disgenet
GLB1 Unknown
1928092 7586649
CTD Disgenet
TMPPE Unknown — Disgenet
TRAPPC2L Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS TYPE 1
MONDO:0001586
IDUA Causal — ClinGen ClinVar GenCC
MUCOPOLYSACCHARIDOSIS TYPE 10
662216
ARSK Unknown
34916232
Orphanet
MUCOPOLYSACCHARIDOSIS TYPE 2
MONDO:0010674
IDS Unknown — ClinGen GenCC
MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM
217093MONDO:0016316
IDS Unknown — GenCC Orphanet
MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM
217085MONDO:0016315
IDS Causal — GenCC Orphanet
MUCOPOLYSACCHARIDOSIS TYPE 3
MONDO:0018937
HGSNAT Unknown — GenCC
MUCOPOLYSACCHARIDOSIS TYPE 3A
MONDO:0009655
SGSH Unknown — ClinGen GenCC
MUCOPOLYSACCHARIDOSIS TYPE 3B
MONDO:0009656
NAGLU Unknown — ClinGen GenCC
MUCOPOLYSACCHARIDOSIS TYPE 3C
MONDO:0009657
HGSNAT Unknown
16960811 18518886 18024218 17033958 20825431
CTD ClinGen
MUCOPOLYSACCHARIDOSIS TYPE 3D
MONDO:0009658
GNS Unknown
19650410 12624138 6450420 17998446 3100754
ClinGen Disgenet
MUCOPOLYSACCHARIDOSIS TYPE 4A
309297MONDO:0009659
GALNS Unknown
23844448
ClinGen GenCC Orphanet
MUCOPOLYSACCHARIDOSIS TYPE 4B
309310MONDO:0009660
GLB1 Unknown
16941474 19091613 1928092 21497194 22371915 24156116 30528226 33558080 33980489 34539759 7586649
ClinGen Disgenet Orphanet
MUCOPOLYSACCHARIDOSIS TYPE 6
MONDO:0009661
ARSB Causal
10036316 11668612 14974081 15324318 1550123 1718978 17458871 17643332 8116615 8651289 8723688
ClinGen ClinVar GWAS catalog
MUCOPOLYSACCHARIDOSIS TYPE 6, RAPIDLY PROGRESSING
276212
ARSB Unknown — Orphanet
MUCOPOLYSACCHARIDOSIS TYPE 6, SLOWLY PROGRESSING
276223C5679780
ARSB Unknown — Disgenet Orphanet
MUCOPOLYSACCHARIDOSIS TYPE 7
584MONDO:0009662
GUSB Causal
1702266 12522561 4265197 6811712 1833732 9490302 7633414 7573038 19224584
ClinGen ClinVar GWAS catalog Orphanet
MUCOPOLYSACCHARIDOSIS TYPE 9
MONDO:0011093
HYAL1 Unknown
8793927
ClinGen GWAS catalog
MUCOPOLYSACCHARIDOSIS TYPE II, ATTENUATED FORM
C5679815
IDS Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS TYPE IIIA
C0086647
CARD14 Unknown — Disgenet
GNPTAB Unknown — Disgenet
IDS Unknown — Disgenet
SGSH Unknown — Disgenet
SLC26A11 Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS TYPE IIIB
C0086648
NAGLU Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS TYPE IVB
C0086652
GLB1 Unknown — Disgenet
TMPPE Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS TYPE X, MSP TYPE X,MPS10 MUCOPOLYSACCHARIDOSIS DUE TO ARSK DEFICIENCY
C5925070
ARSK Unknown — Disgenet
MUCOPOLYSACCHARIDOSIS V
C0026708
IDUA Unknown — Disgenet