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: neuroaxonal dystrophy
Accession: DOID:2367
browse the term
Definition: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Synonyms: exact_synonym: adult neuroaxonal dystrophy; juvenile neuroaxonal dystrophy; late infantile neuroaxonal dystrophy; neuroaxonal dystrophies
broad_synonym: PLA2G6-associated neurodegeneration; PLA2G6-related NBIA
primary_id: MESH:D019150
alt_id: OMIA:000715
xref: NCI:C161542
For additional species annotation, visit the
Alliance of Genome Resources .
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Borcs7
BLOC-1 related complex subunit 7
ISS
MouseDO
NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343
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Ireb2
iron responsive element binding protein 2
ISO
protein:increased expression:brain (mouse)
RGD
PMID:26506412
RGD:11344088
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
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Naga
alpha-N-acetylgalactosaminidase
ISO
Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:2243144 PMID:2243144
RGD:1600557
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Neuroaxonal dystrophy, late infantile
ClinVar
PMID:11479594 PMID:12510040 PMID:15911822 PMID:16149094 PMID:16437574 PMID:16758184 PMID:23166001 PMID:24250886 PMID:25741868 PMID:28492532 PMID:28680084 PMID:29801903 More...
NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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Pla2g6
phospholipase A2 group VI
ISO
DNA:insertion:intron (mouse) DNA:deletion:cds:p.V691del (human) DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple DNA:point mutation:cds
RGD
PMID:22442204 PMID:17033970 PMID:18305254 PMID:19138334 PMID:19893029
RGD:6482732 , RGD:6482740 , RGD:6482739 , RGD:6482736 , RGD:6482735
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Tecpr2
tectonin beta-propeller repeat containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26555167
NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
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Uchl1
ubiquitin C-terminal hydrolase L1
ISO
DNA:deletion
RGD
PMID:11555633
RGD:1302546
NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
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Uchl3
ubiquitin C-terminal hydrolase L3
ISO
RGD
PMID:11555633
RGD:1302546
NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355 Ensembl chr 3:78,485,315...78,527,355
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Anapc15
anaphase promoting complex subunit 15
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
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Clpb
ClpB family mitochondrial disaggregase
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:19732866 PMID:22586289 PMID:28492532
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Dhcr7
7-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Folr1
folate receptor alpha
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18842806 PMID:19732866 PMID:20018644 PMID:20683905 PMID:21752681 PMID:21937992 PMID:22586289 PMID:22695967 PMID:24091540 PMID:24556562 PMID:25741868 PMID:26467025 PMID:27328863 PMID:27535533 PMID:27781028 PMID:27884173 PMID:28054128 PMID:28492532 PMID:29661558 PMID:29961769 PMID:34008900 More...
NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
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Folr2
folate receptor beta
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:19732866 PMID:22586289 PMID:28492532
NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
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Il18bp
interleukin 18 binding protein
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Inppl1
inositol polyphosphate phosphatase-like 1
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:19732866 PMID:22586289 PMID:28492532
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
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Krtap5-8
keratin associated protein 5-8
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817
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Lamtor1
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179
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Lrtomt
leucine rich transmembrane and O-methyltransferase domain containing
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
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Nadsyn1
NAD synthetase 1
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
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Numa1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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Phox2a
paired-like homeobox 2a
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:19732866 PMID:22586289 PMID:28492532
NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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Rnf121
ring finger protein 121
ISO
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
PMID:28492532
NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Karak syndrome
ClinVar
PMID:16783378 PMID:19087156 PMID:20619503 PMID:20886109 PMID:25741868 PMID:27127721 PMID:27196560 PMID:28492532 PMID:29108286 PMID:30619057 PMID:31496990 PMID:32183746 PMID:33550528 PMID:34520727 More...
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Aars2
alanyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar
PMID:32581362
NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090
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Atp13a2
ATPase cation transporting 13A2
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:16199547 PMID:16964263 PMID:20683840 PMID:21060012 PMID:21665991 PMID:21696388 PMID:21724849 PMID:22296644 PMID:22768177 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29163333 PMID:29966207 PMID:30487145 More...
NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
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C1h19orf12
similar to human chromosome 19 open reading frame 12
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:21981780 PMID:22584950 PMID:23269600 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24361204 PMID:25558065 PMID:25592411 PMID:25741868 PMID:28492532 PMID:28641177 PMID:28832565 PMID:30088953 PMID:30392167 PMID:31087512 PMID:31518459 PMID:31804703 PMID:32552793 PMID:33607528 PMID:34284285 More...
NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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Coasy
Coenzyme A synthase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:21264299 PMID:24360804 PMID:25741868 PMID:27021474 PMID:28357284 PMID:28489334 PMID:28492532 PMID:28688840 PMID:33644862 More...
NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841
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Cp
ceruloplasmin
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:16629161 PMID:25741868 PMID:28492532 PMID:30901137 PMID:32235485 PMID:34347207 More...
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:25741868 PMID:28492532 PMID:29395073
NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
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Dcaf17
DDB1 and CUL4 associated factor 17
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
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Fa2h
fatty acid 2-hydroxylase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:20853438 PMID:25741868 PMID:27217339 PMID:27316240 PMID:28492532 PMID:29423566 PMID:30713878 PMID:31130284 PMID:31135052 PMID:32907636 PMID:33059505 PMID:33083013 PMID:34852264 More...
NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Pank2
pantothenate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20629144
NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:2668131 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19087156 PMID:19138334 PMID:19893029 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20947703 PMID:22213678 PMID:22934738 PMID:23685560 PMID:24033266 PMID:24108619 PMID:24130795 PMID:24252552 PMID:24628589 PMID:24745848 PMID:24800972 PMID:24870368 PMID:25164370 PMID:25326635 PMID:25326637 PMID:25558065 PMID:25634434 PMID:25741868 PMID:26196026 PMID:26467025 PMID:26633542 PMID:26668131 PMID:26829737 PMID:27081553 PMID:27127721 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27378808 PMID:27395053 PMID:27516098 PMID:27848944 PMID:28150298 PMID:28492532 PMID:28714225 PMID:28716262 PMID:29108286 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29915382 PMID:30120687 PMID:30302010 PMID:30340910 PMID:30619057 PMID:31104286 PMID:31493945 PMID:31496990 PMID:31516627 PMID:31689548 PMID:32183746 PMID:32357911 PMID:32707456 PMID:32771225 PMID:32860008 PMID:33050356 PMID:33550528 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34307755 PMID:34520727 PMID:35122944 PMID:35247231 PMID:36790591 More...
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar
PMID:32581362
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Reps1
RALBP1 associated Eps domain containing 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:29395073
NCBI chr 1:12,697,742...12,775,562
Ensembl chr 1:12,697,747...12,775,561
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Wdr45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD ClinVar
PMID:16199547 PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 PMID:25741868 PMID:25744623 PMID:26790960 PMID:27030146 PMID:27652284 PMID:28492532 PMID:28554332 PMID:28711740 More...
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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Ankrd54
ankyrin repeat domain 54
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,614,942...110,627,739
Ensembl chr 7:110,614,951...110,627,675
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Baiap2l2
BAR/IMD domain containing adaptor protein 2 like 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,824,370...110,850,702
Ensembl chr 7:110,824,375...110,850,702
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C1qtnf6
C1q and TNF related 6
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,077,867...110,084,584
Ensembl chr 7:110,077,878...110,084,412
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C7h22orf23
similar to human chromosome 22 open reading frame 23
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,704,894...110,712,485
Ensembl chr 7:110,704,894...110,712,487
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Card10
caspase recruitment domain family, member 10
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224
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Cby1
chibby 1, beta catenin antagonist
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,216,835...111,223,305
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Cdc42ep1
CDC42 effector protein 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,395,287...110,403,203
Ensembl chr 7:110,395,332...110,403,200
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Cimip4
ciliary microtubule inner protein 4
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072
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Csf2rb
colony stimulating factor 2 receptor subunit beta
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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Csnk1e
casein kinase 1, epsilon
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
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Cyth4
cytohesin 4
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,152,232...110,176,726
Ensembl chr 7:110,152,272...110,176,741
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Ddx17
DEAD-box helicase 17
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,091,127...111,109,353
Ensembl chr 7:111,089,445...111,109,193
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Dmc1
DNA meiotic recombinase 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952
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Dock6
dedicator of cytokinesis 6
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1
ClinVar
PMID:11727201 PMID:12673792 PMID:12955720 PMID:16385454 PMID:16783378 PMID:20301500 PMID:20301601 PMID:20301718 PMID:20301788 PMID:21735565 PMID:21820096 PMID:25741868 PMID:28492532 More...
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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Eif3l
eukaryotic translation initiation factor 3, subunit L
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,652,565...110,663,614
Ensembl chr 7:110,627,107...110,663,614
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Elfn2
extracellular leucine-rich repeat and fibronectin type III domain containing 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,220,293...110,272,770
Ensembl chr 7:110,225,919...110,272,433
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Fam227a
family with sequence similarity 227, member A
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,174,362...111,216,513
Ensembl chr 7:111,174,362...111,216,483
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Galr3
galanin receptor 3
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,603,525...110,608,429
Ensembl chr 7:110,605,226...110,607,685
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Gcat
glycine C-acetyltransferase
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473
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Gga1
golgi associated, gamma adaptin ear containing, ARF binding protein 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,436,071...110,451,790
Ensembl chr 7:110,435,062...110,451,789
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Gtpbp1
GTP binding protein 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,248,254...111,272,705
Ensembl chr 7:111,248,254...111,272,705
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H1f0
H1.0 linker histone
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,592,834...110,594,694
Ensembl chr 7:110,592,208...110,594,694
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Ift27
intraflagellar transport 27
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
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Il2rb
interleukin 2 receptor subunit beta
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Josd1
Josephin domain containing 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,230,318...111,244,241
Ensembl chr 7:111,230,318...111,244,652
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Kcnj4
potassium inwardly-rectifying channel, subfamily J, member 4
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151
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Kctd17
potassium channel tetramerization domain containing 17
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,979,060...110,009,091
Ensembl chr 7:109,979,060...110,008,927
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Kdelr3
KDEL endoplasmic reticulum protein retention receptor 3
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,079,236...111,089,463
Ensembl chr 7:111,079,218...111,101,600
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Lgals1
galectin 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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Lgals2
galectin 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,403,171...110,410,046
Ensembl chr 7:110,403,173...110,404,802
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Maff
MAF bZIP transcription factor F
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851
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Mfng
MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,310,810...110,328,653
Ensembl chr 7:110,310,812...110,328,653
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Micall1
MICAL-like 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,676,706...110,707,171
Ensembl chr 7:110,676,775...110,707,177
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Mpst
mercaptopyruvate sulfurtransferase
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141
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Ncf4
neutrophil cytosolic factor 4
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
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Nol12
nucleolar protein 12
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,493,294...110,498,908
Ensembl chr 7:110,493,246...110,498,907
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Pdxp
pyridoxal phosphatase
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,472,515...110,477,963
Ensembl chr 7:110,472,515...110,477,963
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Pick1
protein interacting with PRKCA 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,796,623...110,816,850
Ensembl chr 7:110,797,117...110,816,848
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Pla2g6
phospholipase A2 group VI
ISO ISS
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration | ClinVar Annotator: match by term: Seitelberger disease OMIM:256600 CTD Direct Evidence: marker/mechanism DNA:deletions, missense mutations, nonsense mutation: exon:multiple
OMIM ClinVar MouseDO CTD RGD
PMID:2668131 PMID:9536098 PMID:16199547 PMID:16783378 PMID:17033970 PMID:17576681 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19087156 PMID:19138334 PMID:19893029 PMID:20186954 PMID:20226704 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:20947703 PMID:21368765 PMID:21520282 PMID:21700586 PMID:21812034 PMID:22213678 PMID:22442204 PMID:22934738 PMID:23182313 PMID:23685560 PMID:23749988 PMID:24033266 PMID:24088041 PMID:24108619 PMID:24130795 PMID:24252552 PMID:24628589 PMID:24745848 PMID:24800972 PMID:24870368 PMID:25164370 PMID:25174650 PMID:25294124 PMID:25326635 PMID:25326637 PMID:25348461 PMID:25601130 PMID:25634434 PMID:25640679 PMID:25660576 PMID:25741868 PMID:26001724 PMID:26196026 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26633545 PMID:26668131 PMID:26755131 PMID:26829737 PMID:27081553 PMID:27127721 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27294386 PMID:27378808 PMID:27395053 PMID:27516098 PMID:27709683 PMID:27848944 PMID:27882168 PMID:27942883 PMID:28150298 PMID:28295203 PMID:28492532 PMID:28549837 PMID:28600779 PMID:28714225 PMID:28716262 PMID:28821231 PMID:29108286 PMID:29124790 PMID:29159939 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29913018 PMID:29915382 PMID:30042723 PMID:30065071 PMID:30112060 PMID:30120687 PMID:30169597 PMID:30232368 PMID:30302010 PMID:30340910 PMID:30537300 PMID:30619057 PMID:30772976 PMID:31069529 PMID:31104286 PMID:31493945 PMID:31496990 PMID:31506141 PMID:31516627 PMID:31548400 PMID:31689548 PMID:32005694 PMID:32183746 PMID:32357911 PMID:32404165 PMID:32613234 PMID:32707456 PMID:32771225 PMID:32860008 PMID:33050356 PMID:33098801 PMID:33279242 PMID:33361639 PMID:33547378 PMID:33550528 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34307755 PMID:34445196 PMID:34520727 PMID:34602496 PMID:34622992 PMID:35032046 PMID:35041927 PMID:35122944 PMID:35247231 PMID:35624904 PMID:35861376 PMID:35911906 PMID:36499697 PMID:36790591 PMID:22934738 More...
RGD:12910703
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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Pvalb
parvalbumin
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,772,939...109,787,954
Ensembl chr 7:109,772,593...109,784,561
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Rac2
Rac family small GTPase 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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Sh3bp1
SH3-domain binding protein 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,457,626...110,470,201
Ensembl chr 7:110,457,710...110,470,201
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Slc16a8
solute carrier family 16 member 8
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,818,274...110,822,069
Ensembl chr 7:110,818,274...110,822,069
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Sox10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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Sstr3
somatostatin receptor 3
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,092,563...110,109,043
Ensembl chr 7:110,092,575...110,099,769
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Sun2
Sad1 and UNC84 domain containing 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,275,374...111,292,565
Ensembl chr 7:111,275,380...111,292,553
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Tmem184b
transmembrane protein 184B
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,925,092...110,967,975
Ensembl chr 7:110,925,092...110,967,943
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Tmprss6
transmembrane serine protease 6
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624
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Tomm22
translocase of outer mitochondrial membrane 22
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,223,508...111,228,671
Ensembl chr 7:111,216,571...111,246,799
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Triobp
TRIO and F-actin binding protein
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474
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Tst
thiosulfate sulfurtransferase
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216
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Vcl
vinculin
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1
ClinVar
PMID:16783378 PMID:20301718 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2668131 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19138334 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:22213678 PMID:22934738 PMID:24130795 PMID:24252552 PMID:24745848 PMID:24800972 PMID:24870368 PMID:25164370 PMID:25326635 PMID:25741868 PMID:26196026 PMID:26668131 PMID:26755131 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27378808 PMID:27516098 PMID:28492532 PMID:28600779 PMID:28716262 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29915382 PMID:30302010 PMID:30340910 PMID:30619057 PMID:30772976 PMID:31493945 PMID:31516627 PMID:31548400 PMID:32581362 PMID:32707456 PMID:32771225 PMID:32860008 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34622992 PMID:35122944 PMID:36499697 PMID:36790591 More...
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Ftl1
ferritin light chain 1
ISO
DNA:insertion:exon:460_461insA(human) ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 3 | ClinVar Annotator: match by term: Neuroferritinopathy CTD Direct Evidence: marker/mechanism DNA:mutations:exon: DNA:duplication:cds:458dupA(human)
ClinVar CTD OMIM RGD
PMID:9414300 PMID:11438811 PMID:12746423 PMID:14662596 PMID:16116125 PMID:17182944 PMID:18413574 PMID:18414213 PMID:18854324 PMID:21907119 PMID:23421845 PMID:23592921 PMID:25741868 PMID:25832658 PMID:26849797 PMID:28492532 PMID:17142829 PMID:19117339 PMID:18854324 More...
RGD:5509859 , RGD:5509861 , RGD:5509860
NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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C1h19orf12
similar to human chromosome 19 open reading frame 12
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 PMID:22508347 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24209434 PMID:25592411 PMID:25741868 PMID:26187298 PMID:26539891 PMID:27112773 PMID:27801611 PMID:28347615 PMID:28492532 PMID:28641177 PMID:29295770 PMID:29389947 PMID:29915382 PMID:30088953 PMID:30369941 PMID:30392167 PMID:31087512 PMID:31518459 PMID:31804703 PMID:31970231 PMID:32581362 PMID:33607528 PMID:34272103 PMID:34284285 More...
NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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Akap4
A-kinase anchoring protein 4
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684
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Araf
A-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
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Bmp15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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Cacna1f
calcium voltage-gated channel subunit alpha1 F
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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Ccdc120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
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Ccdc22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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Ccnb3
cyclin B3
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
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Cdk16
cyclin-dependent kinase 16
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148
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Cfp
complement factor properdin
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Dgkk
diacylglycerol kinase kappa
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
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Ebp
EBP, cholestenol delta-isomerase
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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Elk1
ETS transcription factor ELK1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
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Eras
ES cell expressed Ras
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
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Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Ftsj1
FtsJ RNA 2'-O-methyltransferase 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030
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Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Glod5
glyoxalase domain containing 5
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
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Gpkow
G patch domain and KOW motifs
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
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Gripap1
GRIP1 associated protein 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
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Hdac6
histone deacetylase 6
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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Kcnd1
potassium voltage-gated channel subfamily D member 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
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Magix
MAGI family member, X-linked
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
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Mir500
microRNA 500
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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Mir532
microRNA 532
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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Ndufb11
NADH:ubiquinone oxidoreductase subunit B11
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
G
Otud5
OTU deubiquitinase 5
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
G
Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
G
Pim2
Pim-2 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
G
Plp2
proteolipid protein 2
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
G
Porcn
porcupine O-acyltransferase
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
G
Ppp1r3f
protein phosphatase 1, regulatory subunit 3F
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
G
Pqbp1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
G
Praf2
PRA1 domain family, member 2
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
G
Prickle3
prickle planar cell polarity protein 3
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
G
Rbm10
RNA binding motif protein 10
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
G
Rbm3
RNA binding motif protein 3
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
G
Shroom4
shroom family member 4
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
G
Slc35a2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
G
Slc38a5
solute carrier family 38, member 5
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
G
Spaca5
sperm acrosome associated 5
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049
G
Ssx1
SSX family member 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
G
Suv39h1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
G
Suv39h1-ps1
SUV39H1 histone lysine methyltransferase, pseudogene 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:141,792,589...141,795,257
G
Syn1
synapsin I
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
G
Syp
synaptophysin
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
G
Tbc1d25
TBC1 domain family, member 25
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
G
Tfe3
transcription factor binding to IGHM enhancer 3
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
G
Timm17b
translocase of inner mitochondrial membrane 17b
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
G
Uba1
ubiquitin-like modifier activating enzyme 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
G
Usp11
ubiquitin specific peptidase 11
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520
G
Usp27x
ubiquitin specific peptidase 27, X-linked
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
G
Uxt
ubiquitously-expressed, prefoldin-like chaperone
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663
G
Was
WASP actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
G
Wdr13
WD repeat domain 13
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
G
Wdr45
WD repeat domain 45
ISO ISS
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 | ClinVar Annotator: match by term: STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD OMIM:300894 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:24896178 PMID:25263061 PMID:25326635 PMID:25356899 PMID:25533962 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26467025 PMID:26609730 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:27681470 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:28878728 PMID:28932395 PMID:29082105 PMID:29171013 PMID:29389947 PMID:29445477 PMID:29681108 PMID:29981852 PMID:30542205 PMID:30612247 PMID:30713893 PMID:31332960 PMID:31487502 PMID:31665836 PMID:32307390 PMID:32382396 PMID:32387008 PMID:33037762 PMID:34368840 PMID:34906502 More...
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
G
Zfp157
zinc finger protein 157
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
G
Zfp182
zinc finger protein 182
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954
G
Znf81
zinc finger protein 81
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
G
Coasy
Coenzyme A synthase
ISO ISS
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 OMIM:615643 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21264299 PMID:24360804 PMID:25741868 PMID:27021474 PMID:28106320 PMID:28357284 PMID:28489334 PMID:28492532 PMID:28688840 PMID:30089828 PMID:31130284 PMID:33644862 PMID:36495139 More...
NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841
G
Reps1
RALBP1 associated Eps domain containing 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29395073
NCBI chr 1:12,697,742...12,775,562
Ensembl chr 1:12,697,747...12,775,561
G
Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29395073
NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
G
Best1
bestrophin 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9
ClinVar
PMID:37660254
NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
G
Fth1
ferritin heavy chain 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9
OMIM ClinVar
PMID:37660254
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
G
Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Osteopetrosis and infantile neuroaxonal dystrophy
ClinVar
PMID:2668131 PMID:18414213 PMID:18443314 PMID:20301718 PMID:20619503 PMID:24745848 PMID:25741868 PMID:26668131 PMID:28492532 PMID:29472584 PMID:30619057 PMID:33619735 PMID:34168672 PMID:34272103 More...
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
G
Adam33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
G
Adissp
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,364,730...118,378,881
Ensembl chr 3:118,362,363...118,378,838
G
Adra1d
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354
G
Ap5s1
adaptor related protein complex 5 subunit sigma 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,429,618...118,432,929
Ensembl chr 3:118,429,637...118,432,926
G
Atrn
attractin
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322
G
Avp
arginine vasopressin
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
G
Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
G
Cdc25b
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272
G
Cds2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,514,963...119,553,555
Ensembl chr 3:119,515,000...119,553,541
G
Cenpb
centromere protein B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470
G
Chgb
chromogranin B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,043,824...120,057,169
Ensembl chr 3:120,043,738...120,057,166
G
Cpxm1
carboxypeptidase X (M14 family), member 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,588,532...117,595,330
Ensembl chr 3:117,588,532...117,595,330
G
Crls1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655
G
Ddrgk1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680
G
Dnaaf9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:117,921,620...118,052,630
G
Ebf4
EBF family member 4
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,498,186...117,566,566
Ensembl chr 3:117,498,319...117,566,566
G
Fastkd5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:117,830,083...117,847,820
G
Fermt1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555
G
Gfra4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
G
Gpcpd1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,787,681...119,832,550
Ensembl chr 3:119,787,682...119,832,517
G
Hspa12b
heat shock protein family A (Hsp70) member 12B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,346,372...118,364,374
Ensembl chr 3:118,346,354...118,364,737
G
Idh3b
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982
G
Itpa
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
G
Lrrn4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,138,093...120,150,877
Ensembl chr 3:120,139,410...120,150,831
G
Lzts3
leucine zipper tumor suppressor family member 3
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,850,286...117,861,132
Ensembl chr 3:117,851,702...117,860,081
G
Mavs
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
G
Mcm8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008
G
Mir103a2
microRNA 103a-2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 PMID:16437574 PMID:23968566 PMID:25741868 PMID:25802776 PMID:26087139 PMID:27185474 PMID:28492532 PMID:28781879 More...
NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
G
Mrps26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,769,220...117,770,883
Ensembl chr 3:117,769,100...117,770,885
G
Nop56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
G
Oxt
oxytocin/neurophysin I prepropeptide
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
G
Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301187 PMID:1734303 PMID:3043782 PMID:7898702 PMID:9536098 PMID:11479594 PMID:12058097 PMID:12510040 PMID:12523119 PMID:12811783 PMID:14580665 PMID:14631201 PMID:14638969 PMID:14639680 PMID:14743358 PMID:15465096 PMID:15565311 PMID:15659606 PMID:15747360 PMID:15834858 PMID:15843062 PMID:15911822 PMID:16023068 PMID:16149094 PMID:16157712 PMID:16199547 PMID:16240131 PMID:16272150 PMID:16437574 PMID:16450344 PMID:16758184 PMID:16962235 PMID:17576681 PMID:17903678 PMID:18006953 PMID:18462962 PMID:19224615 PMID:20076801 PMID:20193558 PMID:20497339 PMID:20551478 PMID:20603201 PMID:20629144 PMID:20721927 PMID:20976082 PMID:21198414 PMID:21459825 PMID:21480873 PMID:21877312 PMID:22103354 PMID:22127788 PMID:22221393 PMID:22416811 PMID:22547525 PMID:22682757 PMID:23166001 PMID:23634310 PMID:23644322 PMID:23757202 PMID:23968566 PMID:24033266 PMID:24075960 PMID:24209433 PMID:24215330 PMID:24250886 PMID:24348190 PMID:24689511 PMID:24712887 PMID:24868354 PMID:25268133 PMID:25741868 PMID:25802776 PMID:25915509 PMID:26087139 PMID:26467025 PMID:26547561 PMID:26795593 PMID:26828213 PMID:27185474 PMID:27303611 PMID:27544236 PMID:27815806 PMID:28094106 PMID:28113101 PMID:28357202 PMID:28492532 PMID:28680084 PMID:28681788 PMID:28708303 PMID:28781879 PMID:28821231 PMID:28845923 PMID:28863176 PMID:28881514 PMID:29590070 PMID:29801903 PMID:30226968 PMID:30363610 PMID:30681573 PMID:31088771 PMID:31540697 PMID:32043823 PMID:32310012 PMID:32456086 PMID:32581362 PMID:32654475 PMID:32705819 PMID:32851917 PMID:33043782 PMID:33072517 PMID:33098801 PMID:33853092 PMID:34272103 PMID:35246191 More...
NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
G
Pced1a
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,600,958...117,622,992
Ensembl chr 3:117,616,921...117,622,962
G
Pcna
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pdyn
prodynorphin
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Prnd
prion like protein doppel
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,213,462...119,218,742
Ensembl chr 3:119,213,429...119,218,745
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Ptpra
protein tyrosine phosphatase, receptor type, A
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,650,146...117,759,744
Ensembl chr 3:117,650,183...117,759,728
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Rassf2
Ras association domain family member 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431
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Rnf24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,520,459...118,575,213
Ensembl chr 3:118,525,349...118,541,080
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Shld1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,938,695...120,011,068
Ensembl chr 3:119,938,833...120,009,550
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Siglec1
sialic acid binding Ig like lectin 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,287,988...118,307,125
Ensembl chr 3:118,287,988...118,306,850
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Slc23a2
solute carrier family 23 member 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343
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Slc4a11
solute carrier family 4 member 11
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
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Smox
spermine oxidase
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710
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Snca
synuclein alpha
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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Sncb
synuclein, beta
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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Sncg
synuclein, gamma
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
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Snrpb
small nuclear ribonucleoprotein polypeptides B and B1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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Spef1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,390,659...118,396,842
Ensembl chr 3:118,390,575...118,394,531
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Stk35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,016,819...117,049,131
Ensembl chr 3:117,016,950...117,048,066
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Tgm3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075
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Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
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Tmc2
transmembrane channel-like 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,396,378...117,464,336
Ensembl chr 3:117,396,378...117,464,336
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Tmem230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614
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Tmem239
transmembrane 239
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,604,765...117,605,978
Ensembl chr 3:117,603,564...117,607,125
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Trmt6
tRNA methyltransferase 6 non-catalytic subunit
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,074,899...120,086,639
Ensembl chr 3:120,074,911...120,086,559
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Ubox5
U-box domain containing 5
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:117,807,092...117,847,722
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Vps16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441
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Naga
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 | ClinVar Annotator: match by term: NAGA deficiency, type 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2889023 PMID:7707696 PMID:8040340 PMID:8071745 PMID:8782044 PMID:9536098 PMID:11251574 PMID:11313741 PMID:14685826 PMID:16199547 PMID:17171432 PMID:17576681 PMID:18414213 PMID:19683538 PMID:23045655 PMID:24033266 PMID:24767253 PMID:25741868 PMID:27138754 PMID:28252636 PMID:28492532 PMID:29431110 PMID:30487145 PMID:31980526 PMID:32860008 PMID:34670123 PMID:34867278 More...
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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Wbp2nl
WBP2 N-terminal like
ISO
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1
ClinVar
NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333
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Bicd2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | ClinVar Annotator: match by term: TANGO2-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26805781 PMID:26805782 PMID:27711071 PMID:28492532 PMID:29369572 PMID:30245509 PMID:30650451 PMID:31276219 PMID:31339582 PMID:32573669 PMID:32576985 PMID:32929747 More...
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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