Spastic paraplegia

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74
468661C5568837
IBA57 Unknown
25609768
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75
459056
MAG Unknown
26179919
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76
488594MONDO:0014827C5567483
CAPN1 Causal
2.02E+11
ClinVar GenCC Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77
466722C5569007
FARS2 Unknown
26553276
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78
513436MONDO:0014975C5567893
ATP13A2 Causal
27217339 28137957 29112700
ClinVar GenCC Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 82
631073C5816767
PCYT2 Unknown
31637422
Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 83
631076C5816768
HPDL Unknown
33188300
Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 84
631079C5816769
PI4KA Unknown
34415322
Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 85
631082C5816770
RNF170 Unknown
31636353
Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 86
631085C5816776
ABHD16A Unknown
34489854
Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 87
631088C5816775
TMEM63C Unknown
35718349
Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B
447760C5568980
ALDH18A1 Unknown
26026163
Disgenet Orphanet
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 18
209951
ERLIN2 Unknown
21330303
Orphanet
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 30
101010
KIF1A Unknown
22258533 26410750
Orphanet
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 58
397946
KIF1C Unknown
24319291 24482476
Orphanet
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72
401849
REEP2 Unknown
24388663
Orphanet
COMPLEX HEREDITARY SPASTIC PARAPLEGIA
MONDO:0015150
B4GALNT1 Unknown
15635080 23746551 24103911 24283893 35775650
ClinGen Disgenet
DSTYK Unknown
28157540
ClinGen GWAS catalog
ENTPD1 Unknown
24482476 28742222 29691679 30652007 33771085 35471564 35758610
ClinGen Disgenet
GBA2 Unknown
20593214 23332916 23332917 24252062 24337409
ClinGen Disgenet
MAG Unknown
26179919 27606346 32629324 7539694
CTD ClinGen
NT5C2 Unknown
24482476 28327087 28884889 29123918 32153630
ClinGen GWAS catalog
VPS37A Unknown
22717650 23246293
ClinGen GWAS catalog
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
607225
ALS2 Unknown — HPO
SPASTIC PARAPARESIS-CATARACTS-SPEECH DELAY SYNDROME
615938MONDO:0036212
FAR1 Unknown
33239752
GWAS catalog Orphanet
SPASTIC PARAPLEGIA
C0037772
ABCD1 Causal — Disgenet
AP4B1 Causal — Disgenet
AP4E1 Causal — Disgenet
AP4M1 Causal — Disgenet
AP4S1 Causal — Disgenet
ATL1 Causal — Disgenet
B4GALNT1 Causal — Disgenet
BICD2 Causal — Disgenet
CYP2U1 Causal — Disgenet
CYP7B1 Causal — Disgenet
EPB41L4A Causal — Disgenet
ERLIN2 Causal — Disgenet
FA2H Causal — Disgenet
GBA2 Causal — Disgenet
GJC2 Causal — Disgenet
HPDL Causal — Disgenet
IRF2BPL Causal — Disgenet
KDM5C Causal — Disgenet
KIF1A Causal — Disgenet
KIF5A Causal — Disgenet
L1CAM Causal — Disgenet