Curation tag: Community: Rare Diseases

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The table below shows all 133 pathways that are tagged with curation tag: Community: Rare Diseases.

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Pathway nameOrganismTagged byDate taggedApplies to latest revision
Alzheimer's disease and miRNA effectsHomo sapiensFehrhart2021070512305712:30, 5 July 20212024012401235201:23, 24 January 2024
Parkinson's disease pathwayHomo sapiensElisson nl2024021216530216:53, 12 February 2024yes
Amyotrophic lateral sclerosis (ALS)Homo sapiensElisson nl2024021217144717:14, 12 February 2024yes
MECP2 and associated Rett syndromeHomo sapiensFehrhart2023050411415011:41, 4 May 20232024013000591300:59, 30 January 2024
ERK pathway in Huntington's diseaseHomo sapiensFehrhart2024031108345508:34, 11 March 2024yes
Prion disease pathwayHomo sapiensNhungP2021062915101015:10, 29 June 20212023110921531221:53, 9 November 2023
Prader-Willi and Angelman syndromeHomo sapiensFehrhart2023080715165615:16, 7 August 2023yes
Degradation pathway of sphingolipids, including diseasesHomo sapiensFehrhart2023050411415611:41, 4 May 20232024012913090113:09, 29 January 2024
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanineHomo sapiensDeSl2023033113344413:34, 31 March 20232024012901523001:52, 29 January 2024
GABA metabolism (aka GHB)Homo sapiensDeSl2023033113402013:40, 31 March 20232024012923334823:33, 29 January 2024
Neurotransmitter disordersHomo sapiensElisson nl2024021216210916:21, 12 February 2024yes
Purine metabolism and related disordersHomo sapiensElisson nl2024021217100517:10, 12 February 2024yes
Pyrimidine metabolism and related diseasesHomo sapiensFehrhart2023050411420111:42, 4 May 20232024012903521803:52, 29 January 2024
Vitamin B6-dependent and responsive disordersHomo sapiensDeSl2023033113441013:44, 31 March 20232024021101161301:16, 11 February 2024
Krebs cycle disordersHomo sapiensDeSl2022081215245115:24, 12 August 20222024013001085601:08, 30 January 2024
Disorders of folate metabolism and transportHomo sapiensFehrhart2023050411420511:42, 4 May 20232024021122434422:43, 11 February 2024
Vitamin B12 disordersHomo sapiensElisson nl2024021217091217:09, 12 February 2024yes
MTHFR deficiencyHomo sapiensFehrhart2022101208190708:19, 12 October 20222024013001511601:51, 30 January 2024
Methionine metabolism leading to sulfur amino acids and related disordersHomo sapiensFehrhart2023050411421611:42, 4 May 20232024012904022104:02, 29 January 2024
Thiamine metabolic pathwaysHomo sapiensEweitz2024031612094112:09, 16 March 2024yes
Acute viral myocarditisHomo sapiensFehrhart2022080312591412:59, 3 August 20222024022222133222:13, 22 February 2024
Lamin A processing pathwayHomo sapiensFehrhart2021113008594008:59, 30 November 20212023052909464609:46, 29 May 2023
Rett syndromeHomo sapiensElisson nl2024021217084217:08, 12 February 2024yes
Effect of progerin on genes involved in progeriaHomo sapiensFehrhart2022080312593712:59, 3 August 20222024022223524123:52, 22 February 2024
Cysteine and methionine catabolismHomo sapiensNhungP2021062914515814:51, 29 June 2021yes
Tyrosine metabolism and related disordersHomo sapiensDeSl2022080313535513:53, 3 August 20222024012901582401:58, 29 January 2024
Molybdenum cofactor (Moco) biosynthesisHomo sapiensNhungP2021062914531114:53, 29 June 20212024012902280302:28, 29 January 2024
Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseasesHomo sapiensFehrhart2023050411422411:42, 4 May 20232024012923452023:45, 29 January 2024
Cerebral organic acidurias, including diseasesHomo sapiensFehrhart2022110816051716:05, 8 November 20222024012901331001:33, 29 January 2024
Glycosylation and related congenital defectsHomo sapiensFehrhart2022110816052716:05, 8 November 20222024012923462223:46, 29 January 2024
Metabolic pathway of LDL, HDL and TG, including diseasesHomo sapiensEweitz2024022422484922:48, 24 February 2024yes
Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolismHomo sapiensSusan2023021716333316:33, 17 February 20232024012122142822:14, 21 January 2024
Alternative pathway of fetal androgen synthesisHomo sapiensElisson nl2024021216112216:11, 12 February 2024yes
Envelope proteins and their potential roles in EDMD physiopathologyHomo sapiensDeSl2020090219274519:27, 2 September 20202024022222270122:27, 22 February 2024
Hippo signaling regulation pathwaysHomo sapiensFehrhart2021113008531208:53, 30 November 20212023081719165819:16, 17 August 2023
Hippo-Merlin signaling dysregulationHomo sapiensAlexanderPico2021051116341616:34, 11 May 20212023081719440319:44, 17 August 2023
Oxysterols derived from cholesterolHomo sapiensElisson nl2024021216150516:15, 12 February 2024yes
Fragile X syndromeHomo sapiensEgonw2023110818103018:10, 8 November 20232023111319441519:44, 13 November 2023
Neurodegeneration with brain iron accumulation (NBIA) subtypes pathwayHomo sapiensElisson nl2024021216325816:32, 12 February 2024yes
Urea cycle and associated pathwaysHomo sapiensFehrhart2022092008401708:40, 20 September 20222024012902432002:43, 29 January 2024
Joubert syndromeHomo sapiensDeSl2023031009575609:57, 10 March 2023yes
22q11.2 copy number variation syndromeHomo sapiensFehrhart2021101113140013:14, 11 October 20212024022201485601:48, 22 February 2024
Male infertilityHomo sapiensMarvin M22021092008553208:55, 20 September 2021yes
Leucine, isoleucine and valine metabolismHomo sapiensDeSl2022042208463008:46, 22 April 20222024013001251901:25, 30 January 2024
Serine metabolismHomo sapiensFehrhart2021113009422609:42, 30 November 2021yes
Thyroid hormones production and peripheral downstream signaling effectsHomo sapiensTabbassidaloii2024022606524606:52, 26 February 2024yes
Purine metabolismHomo sapiensFehrhart2023050411422811:42, 4 May 2023yes
CiliopathiesHomo sapiensEweitz2024022401271701:27, 24 February 20242024022412205212:20, 24 February 2024
Cholesterol biosynthesis with skeletal dysplasiasHomo sapiensFehrhart2021052810304910:30, 28 May 20212024021114342614:34, 11 February 2024
Somatic sex determinationHomo sapiensFehrhart2021052810293710:29, 28 May 2021yes
Genes controlling nephrogenesisHomo sapiensNhungP2021062915512815:51, 29 June 2021yes
GDNF/RET signaling axisHomo sapiensFehrhart2023020312252112:25, 3 February 2023yes
Peroxiredoxin 2 induced ovarian failureMus musculusDeSl2020090219422519:42, 2 September 2020yes
Mammalian disorder of sexual developmentHomo sapiensNhungP2021062915500615:50, 29 June 2021yes
Influence of laminopathies on Wnt signalingHomo sapiensFehrhart2022080313002613:00, 3 August 20222024022223570723:57, 22 February 2024
Kisspeptin/kisspeptin receptor system in the ovaryHomo sapiensFehrhart2021113009315609:31, 30 November 20212024022123142223:14, 21 February 2024
Overlap between signal transduction pathways contributing to LMNA laminopathiesHomo sapiensElisson nl2024021216333616:33, 12 February 2024yes
1q21.1 copy number variation syndromeHomo sapiensFehrhart2023050411423211:42, 4 May 2023yes
3q29 copy number variation syndromeHomo sapiensFehrhart2024031108383308:38, 11 March 2024yes
7q11.23 copy number variation syndromeHomo sapiensEgonw2023062804351104:35, 28 June 2023yes
15q11.2 copy number variation syndromeHomo sapiensFehrhart2023050411423811:42, 4 May 2023yes
15q13.3 copy number variation syndromeHomo sapiensFehrhart2021031208374108:37, 12 March 2021yes
Nitric oxide metabolism in cystic fibrosisHomo sapiensFehrhart2021052810212610:21, 28 May 2021yes
16p11.2 proximal deletion syndromeHomo sapiensFehrhart2023050411424711:42, 4 May 2023yes
16p11.2 distal deletion syndromeHomo sapiensFehrhart2023050411425311:42, 4 May 20232024020403411903:41, 4 February 2024
Phosphoinositides metabolismHomo sapiensDeSl2022031023562323:56, 10 March 2022yes
Proline and hydroxyproline pathwaysHomo sapiensDeSl2024011509473609:47, 15 January 20242024012823130223:13, 28 January 2024
Glycine metabolism, including IMDsHomo sapiensDeSl2024011511084111:08, 15 January 2024yes
Amino acid transport defects (IEMs)Homo sapiensElisson nl2024021216104916:10, 12 February 2024yes
Ethylmalonic encephalopathyHomo sapiensFehrhart2021113009374809:37, 30 November 20212024012923322823:32, 29 January 2024
Biotin metabolism, including IMDsHomo sapiensFehrhart2022042210510910:51, 22 April 2022yes
Riboflavin and CoQ disordersHomo sapiensFehrhart2022080509313209:31, 5 August 20222024021023323623:32, 10 February 2024
Development of ureteric collection systemHomo sapiensFehrhart2021060206442506:44, 2 June 2021yes
Kallmann syndromeHomo sapiensEgonw2023111114060814:06, 11 November 2023yes
Pleural mesotheliomaHomo sapiensMarvin M22023062612255912:25, 26 June 20232023092920364520:36, 29 September 2023
Congenital generalized lipodystrophyHomo sapiensFehrhart2022092008403508:40, 20 September 2022yes
Familial partial lipodystrophyHomo sapiensFehrhart2022092008403908:40, 20 September 2022yes
Progeria-associated lipodystrophyHomo sapiensMaintBot2021062006281706:28, 20 June 2021yes
Acquired partial lipodystrophy / Barraquer-Simons syndromeHomo sapiensElisson nl2024021216262516:26, 12 February 2024yes
Meta pathway lipodystrophy, dyslipidemia and hyperlipidemiaHomo sapiensFehrhart2023020312223912:22, 3 February 2023yes
Familial hyperlipidemia type 1Homo sapiensFehrhart2021113008394908:39, 30 November 2021yes
Familial hyperlipidemia type 2Homo sapiensFehrhart2021113008425808:42, 30 November 2021yes
Familial hyperlipidemia type 3Homo sapiensFehrhart2021113009464009:46, 30 November 2021yes
Familial hyperlipidemia type 4Homo sapiensEgonw2021062006431906:43, 20 June 2021yes
Familial hyperlipidemia type 5Homo sapiensFehrhart2021070512334612:33, 5 July 2021yes
Nucleotide excision repair in xeroderma pigmentosum Homo sapiensNhungP2021062915334615:33, 29 June 2021yes
Inclusion body myositisHomo sapiensMkutmon2023021314171714:17, 13 February 2023yes
Alzheimer's diseaseHomo sapiensFehrhart2022092008404308:40, 20 September 20222024020403013303:01, 4 February 2024
Calcium mediated T-cell apoptosis involved in inclusion body myositisHomo sapiensFehrhart2024012308360508:36, 23 January 20242024012817175717:17, 28 January 2024
Spina bifidaHomo sapiensFehrhart2024012308423908:42, 23 January 2024yes
Glyoxylate metabolismHomo sapiensDeSl2022032319185319:18, 23 March 20222023120213544613:54, 2 December 2023
Hemesynthesis defects and porphyriasHomo sapiensElisson nl2022032518544818:54, 25 March 20222024012903262903:26, 29 January 2024
Leukotriene metabolic pathwayHomo sapiensFehrhart2023020312202712:20, 3 February 2023yes
Disorders of galactose metabolism Homo sapiensFehrhart2023020312201012:20, 3 February 20232024012913483413:48, 29 January 2024
Disorders in ketone body synthesisHomo sapiensFehrhart2023020312195512:19, 3 February 20232024012913224813:22, 29 January 2024
Disorders of bile acid synthesis and biliary transportHomo sapiensDeSl2023070713403713:40, 7 July 20232023071214340514:34, 12 July 2023
Disorders of fructose metabolismHomo sapiensFehrhart2023020312193412:19, 3 February 20232023110820194620:19, 8 November 2023
Copper metabolismHomo sapiensDeSl2022041307375307:37, 13 April 20222024012902491702:49, 29 January 2024
Creatine pathwayHomo sapiensFehrhart2022042210545410:54, 22 April 20222024012822591322:59, 28 January 2024
Cholesterol synthesis disordersHomo sapiensFehrhart2022040608110208:11, 6 April 20222024012901395801:39, 29 January 2024
Disorders in ketolysisHomo sapiensDeSl2022041312445812:44, 13 April 20222024012913203513:20, 29 January 2024
Dravet syndromeHomo sapiensAlexanderPico2022103019011119:01, 30 October 2022yes
Alstrom syndromeHomo sapiensFehrhart2022040608101708:10, 6 April 20222024022202084902:08, 22 February 2024
2q11.2 copy number variation syndromeHomo sapiensFehrhart2023072614472014:47, 26 July 2023yes
2q13 copy number variation syndromeHomo sapiensFehrhart2022071815134315:13, 18 July 2022yes
2q21.1 copy number variation syndromeHomo sapiensFehrhart2023072615490015:49, 26 July 2023yes
2q37 copy number variation syndromeHomo sapiensFehrhart2022071815135215:13, 18 July 20222023072615562015:56, 26 July 2023
Bardet-Biedl syndromeHomo sapiensFehrhart2022080313031813:03, 3 August 2022yes
Genetic causes of porto-sinusoidal vascular diseaseHomo sapiensElisson nl2024021216325316:32, 12 February 2024yes
17q12 copy number variation syndromeHomo sapiensEgonw2023062511390111:39, 25 June 2023yes
Dravet syndrome: Scn1a-A1783V point mutation modelMus musculusFehrhart2022110816091916:09, 8 November 2022yes
1p36 copy number variation syndromeHomo sapiensAlexanderPico2023080322405522:40, 3 August 2023yes
8p23.1 copy number variation syndromeHomo sapiensFehrhart2023080313403013:40, 3 August 2023yes
11p11.2 copy number variation syndrome Homo sapiensFehrhart2023080414122614:12, 4 August 2023yes
Kleefstra syndromeHomo sapiensFehrhart2023032912324012:32, 29 March 2023yes
10q11.21q11.23 copy number variation syndromeHomo sapiensFehrhart2023080906242306:24, 9 August 20232024022201554401:55, 22 February 2024
Metabolic epileptic disordersHomo sapiensFehrhart2023080906251006:25, 9 August 20232024042401084401:08, 24 April 2024
Affected pathways in Duchenne muscular dystrophyHomo sapiensIsabelWassink2023062007504707:50, 20 June 20232023100318415218:41, 3 October 2023
KCNQ2-related epilepsiesHomo sapiensFehrhart2024012308472208:47, 23 January 2024yes
TAR syndromeHomo sapiensFehrhart2023072609380109:38, 26 July 20232023072609382209:38, 26 July 2023
4p16.3 copy number variationHomo sapiensFehrhart2023072709160609:16, 27 July 20232023100318384318:38, 3 October 2023
NF1 copy number variation syndrome Homo sapiensFehrhart2023081108030908:03, 11 August 20232023100318372418:37, 3 October 2023
17p13.3 (YWHAE) copy number variationHomo sapiensFehrhart2023080909255509:25, 9 August 20232023100318333618:33, 3 October 2023
5q35 copy number variationHomo sapiensAlexanderPico2023080322270122:27, 3 August 20232023100318320218:32, 3 October 2023
Smith-Magenis and Potocki-Lupski syndrome copy number variationHomo sapiensFehrhart2023072716382316:38, 27 July 20232023100318303818:30, 3 October 2023
NPHP1 deletion syndromeHomo sapiensFehrhart2023072615173615:17, 26 July 20232023072615182715:18, 26 July 2023
10q22q23 copy number variationHomo sapiensFehrhart2024031108392608:39, 11 March 2024yes
13q12 or CRYL1 copy number variation Homo sapiensFehrhart2023080613495013:49, 6 August 2023yes
13q12.12 copy number variationHomo sapiensFehrhart2023080710040810:04, 7 August 2023yes
15q11q13 copy number variationHomo sapiensFehrhart2024031108384308:38, 11 March 2024yes
15q25 copy number variationHomo sapiensFehrhart2024031108390508:39, 11 March 2024yes
PAFAH1B1 copy number variationHomo sapiensFehrhart2023081108044108:04, 11 August 2023yes
8q11.23 (RB1CC1) copy number variationHomo sapiensFehrhart2023082115055215:05, 21 August 2023yes
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