Distal spinal muscular atrophy

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL RECESSIVE DISTAL SPINAL MUSCULAR ATROPHY 1
MONDO:0011436
IGHMBP2 Causal
15290238 11528396
ClinVar GWAS catalog
AUTOSOMAL RECESSIVE DISTAL SPINAL MUSCULAR ATROPHY 2
MONDO:0011585
SIGMAR1 Causal
16669912 2329048 26078401 27402882 27629094 28708278 29115704
ClinVar GWAS catalog
DISTAL SPINAL MUSCULAR ATROPHY
C0393541
DST Causal — Disgenet
GARS1 Causal — Disgenet
HSPB1 Causal — Disgenet
IGHMBP2 Causal — Disgenet
MORC2 Causal — Disgenet
SETX Causal — Disgenet
SH3TC2 Causal — Disgenet
SPG7 Causal — Disgenet
TRPV4 Causal — Disgenet
VRK1 Causal — Disgenet
AARS1 Unknown — Disgenet
BAG3 Unknown — Disgenet
BSCL2 Unknown — Disgenet
DCTN1 Unknown — Disgenet
DYNC1H1 Unknown — Disgenet
ETFDH Unknown — Disgenet
FBXO38 Unknown — Disgenet
FUS Unknown — Disgenet
HSPB3 Unknown — Disgenet
HSPB8 Unknown — Disgenet
LITAF Unknown — Disgenet
MARS1 Unknown — Disgenet
NEFL Unknown — Disgenet
PLEKHG5 Unknown — Disgenet
PMP22 Unknown — Disgenet
PRX Unknown — Disgenet
SLC5A7 Unknown — Disgenet
SPTAN1 Unknown — Disgenet
TDRKH Unknown — Disgenet
WARS1 Unknown — Disgenet