Spastic paraplegia

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal recessive spastic paraplegia type 44 320401 GJC2 Causal Pathogenic evidence from ClinVar - ClinVar
Spastic Paraplegia C0037772 GJC2 Causal Pathogenic evidence from ClinVar 15192806, 18094336, 20513814 ClinVar
KDM5C Causal Pathogenic evidence from ClinVar 22326837, 25666439 ClinVar
KIF1A Causal Pathogenic evidence from ClinVar 26633545 ClinVar
KIF5A Causal Pathogenic evidence from ClinVar 18853458, 21623771, 25008398, 26543653 ClinVar
L1CAM Causal Pathogenic evidence from ClinVar 7920659, 8069317, 10469653, 10797421, 11438988, 11772994, 19846429 ClinVar
NIPA1 Causal Pathogenic evidence from ClinVar - ClinVar
REEP1 Causal Pathogenic evidence from ClinVar - ClinVar
REEP2 Causal Pathogenic evidence from ClinVar - ClinVar
SACS Causal Pathogenic evidence from ClinVar 10655055, 11788093, 18465152, 19892370, 21745802, 23250129, 23497566 ClinVar
SLC16A2 Causal Pathogenic evidence from ClinVar - ClinVar
SPAST Causal Pathogenic evidence from ClinVar - ClinVar
SPG11 Causal Pathogenic evidence from ClinVar - ClinVar
UBAP1 Causal Pathogenic evidence from ClinVar - ClinVar
VAMP1 Causal Pathogenic evidence from ClinVar - ClinVar
ZFYVE26 Causal Pathogenic evidence from ClinVar 6944241, 18394578, 19805727, 27544497 ClinVar
ABCC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AIFM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AMPD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder) C2750784 GJC2 Causal Pathogenic evidence from ClinVar 18094336, 19056803, 25655951 ClinVar
Autosomal spastic paraplegia type 30 101010 KIF1A Causal Pathogenic evidence from ClinVar - ClinVar
Spastic Paraplegia, Hereditary C0037773 KIF1A Causal Pathogenic evidence from ClinVar 28832565 ClinVar
KIF5A Causal Pathogenic evidence from ClinVar 24357685, 28832565 ClinVar
L1CAM Causal Pathogenic evidence from ClinVar 7562969 ClinVar
NIPA1 Causal Pathogenic evidence from ClinVar 28832565 ClinVar
REEP1 Causal Pathogenic evidence from ClinVar 28832565 ClinVar
SPAST Causal Pathogenic evidence from ClinVar 28832565 ClinVar
SPG11 Causal Pathogenic evidence from ClinVar 28832565 ClinVar
UBAP1 Causal Pathogenic evidence from ClinVar 30929741 ClinVar
ZFYVE26 Causal Pathogenic evidence from ClinVar 28832565 ClinVar
ABCD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17372139, 23664929 -
Autosomal dominant spastic paraplegia type 10 100991 KIF5A Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal dominant spastic paraplegia type 6 100988 NIPA1 Causal Pathogenic evidence from ClinVar - ClinVar
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) C1838192 NIPA1 Causal Pathogenic evidence from ClinVar 14508710, 15643603, 15711826, 17928003, 23850684 ClinVar
Autosomal dominant spastic paraplegia type 31 101011 REEP1 Causal Pathogenic evidence from ClinVar - ClinVar
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT C1853247 REEP1 Causal Pathogenic evidence from ClinVar 16826527, 18321925, 18644145, 19034539, 20718791, 21618648, 22703882, 24478229, 26201691, 29629531 ClinVar
Autosomal spastic paraplegia type 72 401849 REEP2 Causal Pathogenic evidence from ClinVar - ClinVar
SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT C3810161 REEP2 Causal Pathogenic evidence from ClinVar 24388663 ClinVar
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE C3810160 REEP2 Causal Pathogenic evidence from ClinVar 24388663, 24482476 ClinVar
Autosomal dominant spastic paraplegia type 4 100985 SPAST Causal Pathogenic evidence from ClinVar - ClinVar
Spastic paraplegia 4, autosomal dominant C1866855 SPAST Causal Pathogenic evidence from ClinVar 2056246, 9695811, 10610178, 10699187, 11015453, 11039577, 11087788, 11309678, 11809724, 11843700, 11985387, 12124993, 12161613, 12163196, 12202986, 12460147, 12552568, 12939659, 14732620, 15159500, 15210521, 15248095, 15326248, 15482961, 15667412, 15716377, 15841487, 15891913, 16009769, 16055926, 16240363, 16339213, 16682546, 16684598, 16832076, 17100993, 17389232, 17594340, 17597328, 17598600, 17895902, 17957230, 18410514, 18664244, 18701882, 19000169, 19438933, 19875132, 20214791, 20550563, 20562464, 20665701, 20718791, 20932283, 21546041, 22960362, 23252998, 23279441, 23833562, 24381312, 24451228, 24824479, 25045380, 25341883, 25421405, 25658484, 26208798, 26374131, 26671083, 27084228, 27260292, 27334366, 27957547, 28572275 ClinVar
Autosomal recessive spastic paraplegia type 11 2822 SPG11 Causal Pathogenic evidence from ClinVar - ClinVar
Spastic paraplegia 11, autosomal recessive C1858479 SPG11 Causal Pathogenic evidence from ClinVar 14745065, 17322883, 17717710, 18067136, 18079167, 18332254, 18337587, 18717728, 18835492, 19105190, 19194956, 19196735, 19438933, 20110243, 20390432, 22154821, 22175763, 22237444, 22696581, 23443022, 24833714, 26556829, 27071356, 27084228, 27217339, 27820618, 28554332 ClinVar
Autosomal recessive spastic paraplegia type 15 100996 ZFYVE26 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal recessive spastic paraplegia type 63 401805 AMPD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE C3810295 AMPD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24482476, 27159321 -
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE C3279738 AP4B1-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21440262, 21620353, 22290197, 24781758 -
Autosomal recessive spastic paraplegia type 48 306511 AP5Z1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -