Spastic paraplegia

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10
100991
KIF5A Unknown
21623771
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12
100993
RTN2 Unknown
22232211
Orphanet
UBAP1 Unknown
32934340
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13
100994
HSPD1 Unknown
1189812
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17
100998
BSCL2 Unknown
14981520
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3
100984
ATL1 Unknown
11685207
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31
101011
REEP1 Unknown
22703882
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37
171612
KPNA3 Unknown
34564892
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4
100985
SPAST Unknown
17895902
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42
171863
SLC33A1 Unknown
19061983
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 6
100988
NIPA1 Unknown
14508710 15643603
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73
444099C5568981
CPT1C Unknown
25751282
Disgenet Orphanet
GPT2 Unknown — Disgenet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8
100989
WASHC5 Unknown
17160902
Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 80
631068C5816771
UBAP1 Unknown
30929741
Disgenet Orphanet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A
447753C5568978
ALDH18A1 Unknown
26026163 26297558
Disgenet Orphanet
FAR1 Unknown — Disgenet
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9B
447757C5568979
ALDH18A1 Unknown
26026163
Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11
2822
SPG11 Unknown
17322883 19105190
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20
101000
SPART Unknown
12134148 20437587
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21
101001
SPG21 Unknown — Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23
101003
DSTYK Unknown
28157540
Orphanet
SPG23 Unknown — Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 26
101006
B4GALNT1 Unknown
23746551
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28
101008
DDHD1 Unknown
23176821
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35
171629
FA2H Unknown
20104589
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39
139480
PNPLA6 Unknown
18313024
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43
320370
C19ORF12 Unknown
23857908
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44
320401
GJC2 Unknown
19056803
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45
320396
NT5C2 Unknown
24482476
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46
320391
GBA2 Unknown
23332916
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48
306511
AP5Z1 Unknown
20613862
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53
319199
VPS37A Unknown
22717650
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54
320380
DDHD2 Unknown
23176823
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55
320375
MTRFR Unknown
23188110
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56
320411
CYP2U1 Unknown
23176821
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57
431329
TFG Unknown
23479643
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59
401795C4750857MONDO:0018416
USP8 Unknown
24482476
Disgenet GWAS catalog Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A
100986
CYP7B1 Unknown — Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60
401800C5190589MONDO:0018417
WDR48 Unknown
24482476
Disgenet GWAS catalog Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61
401780
ARL6IP1 Unknown
24482476
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62
401785
ERLIN1 Unknown
24482476
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63
401805
AMPD2 Unknown
24482476
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64
401810
ENTPD1 Unknown
24482476
Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66
401815C5190590MONDO:0018418
ARSI Unknown
24482476
Disgenet GWAS catalog Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67
401820C4707829MONDO:0018419
PGAP1 Unknown
24482476
Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69
401830C5190577MONDO:0018421
RAB3GAP2 Unknown
24482476
Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70
C4749431401835MONDO:0018422
ARHGAP9 Unknown — Disgenet
MARS1 Unknown
24482476
CTD Disgenet Orphanet
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71
401840C5190578MONDO:0018423
ZFR Unknown
24482476
Disgenet GenCC Orphanet