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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:neonatal diabetes mellitus
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Accession:DOID:11717 term browser browse the term
Synonyms:exact_synonym: diabetes mellitus syndrome in newborn infant
 primary_id: RDO:9002133
 xref: ICD10CM:P70.2;   ICD9CM:775.1;   NCI:C99248
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
neonatal diabetes mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Neonatal diabetes mellitus ClinVar PMID:16885549, PMID:17389331, PMID:17446535, PMID:17919176, PMID:17957187, PMID:18025408, PMID:18025464, PMID:18436707, PMID:18767144, PMID:19095654, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Neonatal diabetes mellitus ClinVar NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Neonatal diabetes mellitus ClinVar PMID:17855560, PMID:18414213, PMID:25741868 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Neonatal diabetes mellitus ClinVar PMID:17855560, PMID:18414213, PMID:25741868 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Neonatal diabetes mellitus ClinVar PMID:8897013, PMID:9831713, PMID:10049691, PMID:10338089, PMID:12213829, PMID:15115830, PMID:15504982, PMID:15561897, PMID:16268330, PMID:16609879, PMID:16636122, PMID:16731833, PMID:16885550, PMID:17021801, PMID:17296510, PMID:17490422, PMID:17635943, PMID:17673911, PMID:18414213, PMID:18436707, PMID:18767144, PMID:21352428, PMID:22749773, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO ClinVar Annotator: match by term: Neonatal diabetes mellitus ClinVar NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Neonatal diabetes mellitus ClinVar PMID:25741868 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: DEND syndrome ClinVar PMID:25741868 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Diabetes mellitus, neonatal, with congenital hypothyroidism
ClinVar Annotator: match by OMIM:610199
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12966531, PMID:16715098, PMID:18263616, PMID:18414213, PMID:23856252, PMID:24033266, PMID:25741868, PMID:26259131, PMID:28253873, PMID:28492532 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
JBrowse link
permanent neonatal diabetes mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7716548, PMID:8650576, PMID:8923011, PMID:9075812, PMID:9382893, PMID:9519757, PMID:9568693, PMID:9618169, PMID:9642650, PMID:9648840, PMID:9867219, PMID:10204114, PMID:10338089, PMID:10426386, PMID:10447255, PMID:10487673, PMID:10685980, PMID:10720932, PMID:10923633, PMID:11272143, PMID:11318841, PMID:11872696, PMID:11999683, PMID:12196481, PMID:12475776, PMID:12941782, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15111507, PMID:15356046, PMID:15562009, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15842514, PMID:15855351, PMID:16357843, PMID:16380471, PMID:16416420, PMID:16429405, PMID:16442101, PMID:16455067, PMID:16595597, PMID:16613899, PMID:16860127, PMID:16885549, PMID:17257281, PMID:17378627, PMID:17446535, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17466004, PMID:17539904, PMID:17575084, PMID:17668386, PMID:17823772, PMID:17919176, PMID:18025464, PMID:18073294, PMID:18339976, PMID:18346985, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18596924, PMID:18599530, PMID:18758683, PMID:18767144, PMID:18988933, PMID:19214942, PMID:19233137, PMID:19475716, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:20427569, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20849526, PMID:20922570, PMID:20943779, PMID:20943781, PMID:21378087, PMID:21411514, PMID:21422196, PMID:21544516, PMID:21674179, PMID:21716120, PMID:21851374, PMID:21992908, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22210575, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22902787, PMID:22992668, PMID:23067144, PMID:23275527, PMID:23301914, PMID:23345197, PMID:24033266, PMID:24080777, PMID:24332968, PMID:24401662, PMID:24442125, PMID:24616771, PMID:24645945, PMID:24768178, PMID:24814349, PMID:24959012, PMID:25115353, PMID:25306193, PMID:25741868, PMID:25765446, PMID:25955821, PMID:25972930, PMID:26180531, PMID:26379717, PMID:26467025, PMID:26740944, PMID:26758964, PMID:27175728, PMID:27313609, PMID:27682711, PMID:27754802, PMID:27810688, PMID:28346775, PMID:28492532, PMID:28701683, PMID:29207974, PMID:29216354, PMID:29644095, PMID:29681852, PMID:30186238, PMID:30297969, PMID:30352420, PMID:30386300, PMID:30447144, PMID:31604004 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
CTD
ClinVar
PMID:1502186, PMID:7555485, PMID:8068341, PMID:8132752, PMID:8349034, PMID:8433729, PMID:8446612, PMID:8454109, PMID:9049484, PMID:10426385, PMID:10447526, PMID:10525657, PMID:10754480, PMID:11315850, PMID:11315851, PMID:11372010, PMID:11508276, PMID:11553210, PMID:11942313, PMID:12442280, PMID:12627330, PMID:14517946, PMID:14517956, PMID:15102714, PMID:15305805, PMID:15644838, PMID:15841481, PMID:15918042, PMID:15928245, PMID:16602010, PMID:16731834, PMID:16963153, PMID:16965331, PMID:17079173, PMID:17186219, PMID:17573900, PMID:17937063, PMID:18056790, PMID:18271687, PMID:18382660, PMID:18397317, PMID:18399931, PMID:18414213, PMID:19790256, PMID:20132997, PMID:20337973, PMID:21395678, PMID:21437567, PMID:21569204, PMID:21604084, PMID:21720051, PMID:22291974, PMID:22335469, PMID:22389783, PMID:22493702, PMID:22611063, PMID:23624530, PMID:23771172, PMID:23778137, PMID:24033266, PMID:24097065, PMID:24323243, PMID:24518839, PMID:24728127, PMID:24735133, PMID:25015100, PMID:25082184, PMID:25306193, PMID:25414397, PMID:25494859, PMID:25555642, PMID:25741868, PMID:25850297, PMID:26123671, PMID:26467025, PMID:27080136, PMID:27634015, PMID:27913849, PMID:28323911, PMID:28492532, PMID:28726111, PMID:29056535, PMID:29510678 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar PMID:17855560, PMID:18162506, PMID:18171712, PMID:18414213, PMID:18451997, PMID:18981553, PMID:19801494, PMID:19952343, PMID:20034470, PMID:20133622, PMID:20308425, PMID:20659334, PMID:20938745, PMID:20948967, PMID:21566073, PMID:21592955, PMID:21723250, PMID:23416061, PMID:23444373, PMID:25741868, PMID:26467025 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
CTD
ClinVar
PMID:17855560, PMID:18162506, PMID:18171712, PMID:18414213, PMID:18451997, PMID:18981553, PMID:19801494, PMID:19952343, PMID:20034470, PMID:20133622, PMID:20308425, PMID:20659334, PMID:20938745, PMID:20948967, PMID:21566073, PMID:21592955, PMID:21723250, PMID:23416061, PMID:23444373, PMID:25741868, PMID:26467025 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by OMIM:606176
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.V59M, p.C166F, p.R201H (human)
DNA:missense mutations: :multiple
ClinVar
CTD
PMID:9867219, PMID:10559219, PMID:11318841, PMID:11395395, PMID:11872696, PMID:12196481, PMID:12364426, PMID:12475776, PMID:12524280, PMID:14692646, PMID:14715863, PMID:15115830, PMID:15292329, PMID:15448106, PMID:15448107, PMID:15531505, PMID:15562009, PMID:15579791, PMID:15580558, PMID:15583126, PMID:15718250, PMID:15784703, PMID:15797964, PMID:15838686, PMID:15855351, PMID:15886397, PMID:16087682, PMID:16205880, PMID:16339180, PMID:16357843, PMID:16403845, PMID:16416420, PMID:16455067, PMID:16595597, PMID:16602010, PMID:16609879, PMID:16636122, PMID:16670688, PMID:16731837, PMID:16816952, PMID:16885550, PMID:17021801, PMID:17065345, PMID:17213273, PMID:17257281, PMID:17327377, PMID:17446535, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17475937, PMID:17490422, PMID:17491708, PMID:17635943, PMID:17652641, PMID:17673911, PMID:17823772, PMID:17901525, PMID:18073297, PMID:18250167, PMID:18414213, PMID:18548275, PMID:18556340, PMID:18662362, PMID:18758683, PMID:18924582, PMID:19065048, PMID:19214942, PMID:19233137, PMID:19247925, PMID:19345438, PMID:19357197, PMID:19372376, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20220270, PMID:20424228, PMID:20466780, PMID:20642364, PMID:20685672, PMID:20686794, PMID:21115269, PMID:21119644, PMID:21352428, PMID:21422196, PMID:21544516, PMID:21812132, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22311976, PMID:22385882, PMID:22704848, PMID:22831748, PMID:22992668, PMID:23275527, PMID:23345197, PMID:23434183, PMID:23462667, PMID:23950723, PMID:23959658, PMID:24018988, PMID:24442125, PMID:25115353, PMID:25308342, PMID:25555642, PMID:25637631, PMID:25741868, PMID:26467025, PMID:26839896, PMID:27118464, PMID:27173951, PMID:27691052, PMID:27908292, PMID:28123437, PMID:28460053, PMID:28480665, PMID:28492532, PMID:29681852, PMID:16670688, PMID:15115830 RGD:12743642, RGD:11067932 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
CTD
ClinVar
PMID:8506821, PMID:8988180, PMID:9326926, PMID:12970316, PMID:15001545, PMID:19496967, PMID:20009086, PMID:20621032, PMID:25741868, PMID:26467025 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
JBrowse link
Permanent Neonatal Diabetes Mellitus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 1 ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISO OMIM NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 1 ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
Permanent Neonatal Diabetes Mellitus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 2 ClinVar
OMIM
PMID:12524280, PMID:15115830, PMID:15292329, PMID:15448106, PMID:15448107, PMID:15531505, PMID:15580558, PMID:15583126, PMID:15718250, PMID:15838686, PMID:16087682, PMID:16205880, PMID:16339180, PMID:16602010, PMID:16609879, PMID:16636122, PMID:16670688, PMID:16731837, PMID:16816952, PMID:16885550, PMID:17021801, PMID:17065345, PMID:17213273, PMID:17327377, PMID:17475937, PMID:17490422, PMID:17491708, PMID:17635943, PMID:17652641, PMID:17901525, PMID:18073297, PMID:18414213, PMID:18548275, PMID:18662362, PMID:18924582, PMID:19065048, PMID:19247925, PMID:19345438, PMID:20022885, PMID:20220270, PMID:20466780, PMID:21352428, PMID:23434183, PMID:23462667, PMID:23959658, PMID:25308342, PMID:26467025, PMID:26839896, PMID:28460053, PMID:28480665 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
Permanent Neonatal Diabetes Mellitus 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 3 ClinVar
OMIM
PMID:14715863, PMID:16357843, PMID:16613899, PMID:16885549, PMID:17378627, PMID:17668386, PMID:18025408, PMID:18436707, PMID:19475716, PMID:22802590 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
Permanent Neonatal Diabetes Mellitus 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 4 ClinVar PMID:17855560, PMID:18162506, PMID:18171712, PMID:18414213, PMID:18451997, PMID:18981553, PMID:19801494, PMID:19952343, PMID:20034470, PMID:20308425, PMID:20659334, PMID:20948967, PMID:21723250, PMID:23416061, PMID:23444373, PMID:25741868, PMID:26101329, PMID:26467025 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 4 ClinVar
OMIM
PMID:17855560, PMID:18162506, PMID:18171712, PMID:18414213, PMID:18451997, PMID:18981553, PMID:19801494, PMID:19952343, PMID:20034470, PMID:20308425, PMID:20659334, PMID:20948967, PMID:21723250, PMID:23416061, PMID:23444373, PMID:25741868, PMID:26101329, PMID:26467025 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis
ClinVar Annotator: match by OMIM:609069
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10507728, PMID:15543146, PMID:19650412, PMID:20065546, PMID:21749365, PMID:25741868, PMID:25775927, PMID:28492532 NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
JBrowse link
transient neonatal diabetes mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO
ISS
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant
OMIM:601410 | OMIM:610374 | OMIM:610582
ClinVar
MouseDO
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant
ClinVar PMID:7555485, PMID:8068341, PMID:8349034, PMID:8433729, PMID:8454109, PMID:10447526, PMID:11315850, PMID:11315851, PMID:11942313, PMID:12442280, PMID:12627330, PMID:14517946, PMID:14517956, PMID:15305805, PMID:15841481, PMID:15918042, PMID:15928245, PMID:16963153, PMID:16965331, PMID:17573900, PMID:18271687, PMID:19790256, PMID:20132997, PMID:21604084, PMID:22493702, PMID:22611063, PMID:24097065, PMID:24518839, PMID:24728127, PMID:25015100, PMID:25741868, PMID:25850297, PMID:26467025, PMID:28492532 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO
ISS
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant
OMIM:601410 | OMIM:610374 | OMIM:610582
ClinVar
MouseDO
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Zfp57 zinc finger protein 57 ISO
ISS
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive
OMIM:601410 | OMIM:610374 | OMIM:610582
ClinVar
MouseDO
NCBI chr20:2,014,177...2,020,488
Ensembl chr20:2,014,170...2,020,537
JBrowse link
Transient Neonatal Diabetes Mellitus, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp57 zinc finger protein 57 ISO ClinVar Annotator: match by term: Transient neonatal diabetes mellitus 1
ClinVar Annotator: match by OMIM:601410
OMIM
ClinVar
PMID:18197189, PMID:18414213, PMID:18622393, PMID:23499433, PMID:23748067, PMID:25741868 NCBI chr20:2,014,177...2,020,488
Ensembl chr20:2,014,170...2,020,537
JBrowse link
Transient Neonatal Diabetes Mellitus, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Transient neonatal diabetes mellitus 2
ClinVar Annotator: match by OMIM:610374
OMIM
ClinVar
PMID:7716548, PMID:8923011, PMID:9075812, PMID:9519757, PMID:9568693, PMID:9618169, PMID:9648840, PMID:10204114, PMID:10338089, PMID:10426386, PMID:10447255, PMID:10487673, PMID:10685980, PMID:10720932, PMID:10923633, PMID:11272143, PMID:11999683, PMID:12941782, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15111507, PMID:15356046, PMID:15562009, PMID:15579781, PMID:15842514, PMID:16357843, PMID:16380471, PMID:16416420, PMID:16429405, PMID:16860127, PMID:16885549, PMID:17378627, PMID:17389331, PMID:17446535, PMID:17466004, PMID:17539904, PMID:17575084, PMID:17668386, PMID:17919176, PMID:17957187, PMID:18025464, PMID:18339976, PMID:18346985, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18599530, PMID:18758683, PMID:18767144, PMID:18988933, PMID:19475716, PMID:20427569, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20849526, PMID:20922570, PMID:20943779, PMID:21378087, PMID:21544516, PMID:21716120, PMID:21851374, PMID:22210575, PMID:22704848, PMID:22902787, PMID:23275527, PMID:23345197, PMID:24033266, PMID:24080777, PMID:24401662, PMID:24616771, PMID:24768178, PMID:24814349, PMID:24959012, PMID:25306193, PMID:25741868, PMID:25955821, PMID:25972930, PMID:26180531, PMID:26467025, PMID:26758964, PMID:27175728, PMID:27313609, PMID:27754802, PMID:28346775, PMID:28492532, PMID:29207974, PMID:29216354, PMID:30297969, PMID:30352420, PMID:30447144, PMID:31604004 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Transient neonatal diabetes mellitus 2 ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
Transient Neonatal Diabetes Mellitus, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Transient neonatal diabetes mellitus 3 ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Transient neonatal diabetes mellitus 3
ClinVar Annotator: match by OMIM:610582
OMIM
ClinVar
PMID:8897013, PMID:9867219, PMID:10338089, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:12524280, PMID:14551916, PMID:14715863, PMID:14871556, PMID:15115830, PMID:15448106, PMID:15448107, PMID:15504982, PMID:15531505, PMID:15562009, PMID:15579791, PMID:15583126, PMID:15718250, PMID:15784703, PMID:15797964, PMID:15838686, PMID:15855351, PMID:16087682, PMID:16205880, PMID:16339180, PMID:16416420, PMID:16455067, PMID:16595597, PMID:16602010, PMID:16609879, PMID:16636122, PMID:16670688, PMID:16731837, PMID:16816952, PMID:16885550, PMID:17021801, PMID:17065345, PMID:17213273, PMID:17257281, PMID:17316607, PMID:17327377, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17475937, PMID:17490422, PMID:17491708, PMID:17635943, PMID:17673911, PMID:17823772, PMID:17901525, PMID:18250167, PMID:18290324, PMID:18414213, PMID:18548275, PMID:18662362, PMID:18758683, PMID:18924582, PMID:19214942, PMID:19233137, PMID:19247925, PMID:19345438, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20049716, PMID:20220270, PMID:20424228, PMID:20466780, PMID:20589481, PMID:20685672, PMID:21115269, PMID:21352428, PMID:21765448, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22311976, PMID:22385882, PMID:22471336, PMID:22512215, PMID:22704848, PMID:22958899, PMID:22992668, PMID:23275527, PMID:23345197, PMID:23434183, PMID:23462667, PMID:23959658, PMID:24434300, PMID:24442125, PMID:24698822, PMID:25115353, PMID:25308342, PMID:25637631, PMID:25639667, PMID:25741868, PMID:25871929, PMID:25972930, PMID:26467025, PMID:26740944, PMID:26839896, PMID:28460053, PMID:28480665, PMID:28492532, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          neonatal diabetes mellitus 10
            Developmental Delay, Epilepsy, and Neonatal Diabetes 1
            Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 0
            neonatal diabetes mellitus with congenital hypothyroidism 1
            permanent neonatal diabetes mellitus + 7
            transient neonatal diabetes mellitus + 7
Path 2
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          carbohydrate metabolism disease 1763
            glucose metabolism disease 1763
              diabetes mellitus 1367
                neonatal diabetes mellitus 10
                  Developmental Delay, Epilepsy, and Neonatal Diabetes 1
                  Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 0
                  neonatal diabetes mellitus with congenital hypothyroidism 1
                  permanent neonatal diabetes mellitus + 7
                  transient neonatal diabetes mellitus + 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.