RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: hereditary spastic paraplegia 75
Accession: DOID:0110820
browse the term
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. (DO)
Synonyms: exact_synonym: SPG75; autosomal recessive spastic paraplegia 75; autosomal recessive spastic paraplegia type 75
primary_id: OMIM:616680
xref: EFO:0009018 ; ORDO:459056
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Alkbh6
alkB homolog 6
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,563,511...85,568,977
Ensembl chr 1:85,563,592...85,568,973
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Aplp1
amyloid beta precursor like protein 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,696,880...85,707,215
Ensembl chr 1:85,696,882...85,707,155
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Arhgap33
Rho GTPase activating protein 33
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,776,112...85,789,767
Ensembl chr 1:85,776,108...85,789,678
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Atp4a
ATPase H+/K+ transporting subunit alpha
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,961,607...85,974,972
Ensembl chr 1:85,961,708...85,974,844
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Capns1
calpain, small subunit 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,444,613...85,454,861
Ensembl chr 1:85,444,608...85,454,795
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Cd22
CD22 molecule
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322
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Cebpa
CCAAT/enhancer binding protein alpha
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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Cebpg
CCAAT/enhancer binding protein gamma
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,683,060...87,692,772
Ensembl chr 1:87,684,019...87,694,569
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Cep89
centrosomal protein 89
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112
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Chst8
carbohydrate sulfotransferase 8
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900
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Clip3
CAP-GLY domain containing linker protein 3
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,547,170...85,563,187
Ensembl chr 1:85,547,206...85,563,184
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Cox6b1
cytochrome c oxidase subunit 6B1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001 Ensembl chr 2:85,875,109...85,884,001
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Cox7a1
cytochrome c oxidase subunit 7A1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151
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Dmkn
dermokine
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,013,237...86,031,243
Ensembl chr 1:86,014,188...86,030,006
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Etv2
ETS variant transcription factor 2
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:85,890,559...85,893,431
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Faap24
FA core complex associated protein 24
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:88,051,523...88,057,997
Ensembl chr 1:88,051,911...88,057,989
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Fam187b
family with sequence similarity 187, member B
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,205,234...86,219,542
Ensembl chr 1:86,205,218...86,219,917
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Ffar1
free fatty acid receptor 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272
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Ffar2
free fatty acid receptor 2
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,071,855...86,075,049
Ensembl chr 1:86,072,184...86,075,033
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Ffar3
free fatty acid receptor 3
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:86,104,920...86,106,849
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Fxyd1
FXYD domain-containing ion transport regulator 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278
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Fxyd3
FXYD domain-containing ion transport regulator 3
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,305,531...86,312,455
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Fxyd5
FXYD domain-containing ion transport regulator 5
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,267,937...86,277,329
Ensembl chr 1:86,267,406...86,277,519
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Fxyd7
FXYD domain-containing ion transport regulator 7
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,277,678...86,286,954
Ensembl chr 1:86,277,678...86,286,954
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Gapdhs
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:85,979,098...85,993,640
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Garre1
granule associated Rac and RHOG effector 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,862,121...86,939,725
Ensembl chr 1:86,862,121...86,939,687
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Gpatch1
G patch domain containing 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,925,606...87,974,544
Ensembl chr 1:87,925,618...87,974,544
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Gpi
glucose-6-phosphate isomerase
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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Gramd1a
GRAM domain containing 1A
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,367,001...86,393,348
Ensembl chr 1:86,367,001...86,393,336
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Hamp
hepcidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Haus5
HAUS augmin-like complex, subunit 5
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,912,371...85,924,327
Ensembl chr 1:85,912,374...85,923,337
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Hcst
hematopoietic cell signal transducer
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,676,976...85,679,083
Ensembl chr 1:85,676,979...85,679,012
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Hpn
hepsin
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811
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Hspb6
heat shock protein family B (small) member 6
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,806,898...85,809,072
Ensembl chr 1:85,806,146...85,809,071
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Igflr1
IGF-like family receptor 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,818,428...85,821,032
Ensembl chr 1:85,816,326...85,821,030
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Kctd15
potassium channel tetramerization domain containing 15
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,258,658...87,271,979
Ensembl chr 1:87,258,658...87,273,497
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Kirrel2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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Kmt2b
lysine methyltransferase 2B
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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Krtdap
keratinocyte differentiation associated protein
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,038,296...86,041,594
Ensembl chr 1:86,038,437...86,041,455
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Lgi4
leucine-rich repeat LGI family, member 4
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
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Lin37
lin-37 DREAM MuvB core complex component
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,809,065...85,813,235
Ensembl chr 1:85,809,074...85,812,991
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Lrfn3
leucine rich repeat and fibronectin type III domain containing 3
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,616,862...85,623,725
Ensembl chr 1:85,616,868...85,623,725
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Lrp3
LDL receptor related protein 3
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,843,815...87,859,147
Ensembl chr 1:87,844,868...87,859,110
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Lsm14a
LSM14A mRNA processing body assembly factor
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,964,800...87,009,325
Ensembl chr 1:86,964,828...87,009,276
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Lsr
lipolysis stimulated lipoprotein receptor
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,185,769...86,201,952
Ensembl chr 1:86,186,431...86,201,952
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Mag
myelin-associated glycoprotein
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 | ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26179919 PMID:28492532 PMID:28832565 PMID:31227335 PMID:31402626 PMID:32629324 More...
NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
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Nfkbid
NFKB inhibitor delta
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447
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Nudt19
nudix hydrolase 19
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:88,214,475...88,226,072
Ensembl chr 1:88,214,480...88,226,207
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Ovol3
ovo-like zinc finger 3
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,484,956...85,488,592
Ensembl chr 1:85,484,956...85,488,592
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Pdcd2l
programmed cell death 2-like
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,810,292...86,822,554
Ensembl chr 1:86,810,292...86,822,554
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Pepd
peptidase D
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
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Polr2i
RNA polymerase II subunit I
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,483,515...85,484,952
Ensembl chr 1:85,483,515...85,484,952
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Prodh2
proline dehydrogenase 2
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,753,558...85,767,165
Ensembl chr 1:85,753,644...85,767,162
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Proser3
proline and serine rich 3
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,793,363...85,806,682
Ensembl chr 1:85,793,358...85,805,909
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Psenen
presenilin enhancer gamma secretase subunit
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
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Rbm42
RNA binding motif protein 42
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,898,618...85,908,569
Ensembl chr 1:85,898,625...85,908,573
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Rgs9bp
regulator of G protein signaling 9 binding protein
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151
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Rhpn2
rhophilin, Rho GTPase binding protein 2
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,991,143...88,051,895
Ensembl chr 1:87,991,144...88,051,902
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Sbsn
suprabasin
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,978,970...86,006,034
Ensembl chr 1:86,001,567...86,006,034
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Scn1b
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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Sdhaf1
succinate dehydrogenase complex assembly factor 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366 Ensembl chr 1:85,576,041...85,577,366
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Slc7a10
solute carrier family 7 member 10
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,829,084...87,845,073
Ensembl chr 1:87,829,175...87,845,071
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Slc7a9
solute carrier family 7 member 9
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
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Syne4
spectrin repeat containing nuclear envelope family member 4
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,569,409...85,573,775
Ensembl chr 1:85,569,545...85,573,760
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Tbcb
tubulin folding cofactor B
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,477,639...85,483,488
Ensembl chr 1:85,477,640...85,483,488
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Tdrd12
tudor domain containing 12
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:88,133,271...88,205,729
Ensembl chr 1:88,133,373...88,205,705
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Thap8
THAP domain containing 8
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
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Tmem147
transmembrane protein 147
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868
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Tyrobp
transmembrane immune signaling adaptor Tyrobp
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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U2af1l4
U2 small nuclear RNA auxiliary factor 1-like 4
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,816,268...85,818,462
Ensembl chr 1:85,815,101...85,818,462
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Uba2
ubiquitin-like modifier activating enzyme 2
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682
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Upk1a
uroplakin 1A
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,859,672...85,870,147
Ensembl chr 1:85,859,671...85,870,354
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Usf2
upstream transcription factor 2, c-fos interacting
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,174,703...86,185,942
Ensembl chr 1:86,174,703...86,185,617
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Wdr62
WD repeat domain 62
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
G
Wdr88
WD repeat domain 88
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:87,884,316...87,924,719
Ensembl chr 1:87,884,323...87,924,695
G
Wtip
WT1 interacting protein
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,731,214...86,764,939
Ensembl chr 1:86,731,265...86,765,014
G
Zbtb32
zinc finger and BTB domain containing 32
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:85,841,931...85,851,116
Ensembl chr 1:85,841,931...85,844,236
G
Znf599l-ps1
zinc finger protein 599 like, pseudogene 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
PMID:28492532
NCBI chr 1:86,453,465...86,484,002
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