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.
Please select species to view GViewer data.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chrNW_004624877:662,595...851,762
Ensembl chrNW_004624877:661,998...850,431
G
G
ARHGAP44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr16:12,125,543...12,328,203
Ensembl chr16:12,125,574...12,330,501
G
P
ARHGAP44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr12:57,049,900...57,206,706
Ensembl chr12:57,049,895...57,206,889
G
S
Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chrNW_004936595:5,373,645...5,542,915
Ensembl chrNW_004936595:5,373,476...5,543,073
G
D
ARHGAP44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr 5:36,790,059...36,957,932
Ensembl chr 5:36,789,814...36,957,411
G
B
ARHGAP44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr17:38,657,824...38,859,591
Ensembl chr17:43,357,438...43,453,457
G
C
Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chrNW_004955467:4,428,738...4,590,877
Ensembl chrNW_004955467:4,430,087...4,522,611
G
R
Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr10:50,154,724...50,322,027
Ensembl chr10:49,655,584...49,824,297
G
M
Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr11:64,892,865...65,053,779
Ensembl chr11:64,892,865...65,053,787
G
H
ARHGAP44
Rho GTPase activating protein 44
HEP
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr17:12,789,498...12,991,643
Ensembl chr17:12,789,498...12,991,643
G
N
Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chrNW_004624894:2,357,193...2,400,699
G
G
CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr26:4,747,734...4,779,231
Ensembl chr26:4,749,766...4,776,822
G
P
CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841
G
S
Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chrNW_004936471:36,451,070...36,492,774
Ensembl chrNW_004936471:36,452,965...36,492,618
G
D
CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr13:38,343,966...38,355,534
Ensembl chr13:38,346,104...38,355,468
G
B
CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376
G
C
Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chrNW_004955450:945,400...974,129
Ensembl chrNW_004955450:946,898...974,457
G
R
Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr 8:64,265,879...64,294,233
Ensembl chr 8:55,369,794...55,398,146
G
M
Chrna5
cholinergic receptor, nicotinic, alpha polypeptide 5
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr 9:54,888,112...54,918,704
Ensembl chr 9:54,888,164...54,915,063
G
H
CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
IEP
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269
G
N
Dll4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284
G
G
DLL4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828
G
P
DLL4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
G
S
Dll4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253
G
D
DLL4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940
G
B
DLL4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
G
C
Dll4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420
G
R
Dll4
delta like canonical Notch ligand 4
treatment
IEP
RGD
PMID:33628824
RGD:155663482
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
G
M
Dll4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
G
H
DLL4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
G
N
Notch1
notch receptor 1
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
G
G
NOTCH1
notch receptor 1
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585
G
P
NOTCH1
notch receptor 1
treatment
ISO
RGD
PMID:33628824
RGD:155663482
G
S
Notch1
notch receptor 1
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
G
D
NOTCH1
notch receptor 1
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
G
B
NOTCH1
notch receptor 1
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
G
C
Notch1
notch receptor 1
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259
G
R
Notch1
notch receptor 1
treatment
IEP
RGD
PMID:33628824
RGD:155663482
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
G
M
Notch1
notch 1
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
G
H
NOTCH1
notch receptor 1
treatment
ISO
RGD
PMID:33628824
RGD:155663482
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
G
N
Ptpn13
protein tyrosine phosphatase non-receptor type 13
ISO
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chrNW_004624872:3,183,381...3,406,339
Ensembl chrNW_004624872:3,226,000...3,405,805
G
G
PTPN13
protein tyrosine phosphatase non-receptor type 13
ISO
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chr 7:34,974,028...35,200,214
Ensembl chr 7:34,974,082...35,200,293
G
P
PTPN13
protein tyrosine phosphatase non-receptor type 13
ISO
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chr 8:132,035,170...132,200,425
Ensembl chr 8:132,035,151...132,249,411
G
S
Ptpn13
protein tyrosine phosphatase non-receptor type 13
ISO
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chrNW_004936920:313,762...510,334
Ensembl chrNW_004936920:313,814...510,001
G
D
PTPN13
protein tyrosine phosphatase non-receptor type 13
ISO
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chr32:10,125,447...10,328,764
Ensembl chr32:10,125,441...10,328,757
G
B
PTPN13
protein tyrosine phosphatase non-receptor type 13
ISO
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chr 4:78,893,598...79,118,745
Ensembl chr 4:89,623,271...89,847,616
G
C
Ptpn13
protein tyrosine phosphatase non-receptor type 13
ISO
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chrNW_004955474:2,988,109...3,140,520
Ensembl chrNW_004955474:2,988,639...3,140,513
G
R
Ptpn13
protein tyrosine phosphatase, non-receptor type 13
ISO
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chr14:6,412,841...6,587,238
Ensembl chr14:6,108,211...6,282,563
G
M
Ptpn13
protein tyrosine phosphatase, non-receptor type 13
ISO
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chr 5:103,573,058...103,746,227
Ensembl chr 5:103,573,058...103,746,169
G
H
PTPN13
protein tyrosine phosphatase non-receptor type 13
IEP
mRNA,protein:decreased expression:lung
RGD
PMID:22245727
RGD:152176663
NCBI chr 4:86,594,315...86,815,161
Ensembl chr 4:86,594,315...86,815,171
G
N
Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chrNW_004624770:1,255,401...1,262,019
Ensembl chrNW_004624770:1,251,716...1,262,213
G
G
TTR
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399
G
P
TTR
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977
G
S
Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chrNW_004936682:1,628,489...1,635,495
Ensembl chrNW_004936682:1,628,341...1,635,566
G
D
TTR
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058
G
B
TTR
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
G
C
Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108
G
R
Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
G
M
Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378
G
H
TTR
transthyretin
HEP
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:18440724
RGD:151361285
NCBI chrNW_004624746:1,325,368...1,349,616
G
G
SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:18440724
RGD:151361285
NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
G
P
SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:18440724
RGD:151361285
NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
G
S
Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:18440724
RGD:151361285
NCBI chrNW_004936641:1,513,110...1,538,955
G
D
SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:18440724
RGD:151361285
NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
G
B
SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:18440724
RGD:151361285
NCBI chr16:68,512,407...68,552,763
G
C
Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:18440724
RGD:151361285
NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310
G
R
Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:18440724
RGD:151361285
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
G
M
Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
disease_progression
ISO
RGD
PMID:18440724
RGD:151361285
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
G
H
SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
RGD
PMID:18440724
RGD:151361285
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all