Curation tag: Community: Rare Diseases

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The table below shows all 147 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 sapiensFehrhart2025091708273108:27, 17 September 2025yes
Parkinson's disease pathwayHomo sapiensFehrhart2025071406433206:43, 14 July 2025yes
Amyotrophic lateral sclerosis (ALS)Homo sapiensFehrhart2025071406434106:43, 14 July 2025yes
MECP2 and associated Rett syndromeHomo sapiensFehrhart2025071406434906:43, 14 July 2025yes
ERK pathway in Huntington's diseaseHomo sapiensFehrhart2025071406440406:44, 14 July 20252025112002050902:05, 20 November 2025
Prion disease pathwayHomo sapiensFehrhart2025081208510708:51, 12 August 2025yes
Prader-Willi and Angelman syndromeHomo sapiensFehrhart2025081208511308:51, 12 August 2025yes
Degradation pathway of sphingolipids, including diseasesHomo sapiensFehrhart2025071406445006:44, 14 July 2025yes
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanineHomo sapiensFehrhart2025091708274508:27, 17 September 2025yes
GABA metabolism (aka GHB)Homo sapiensFehrhart2025071406451506:45, 14 July 20252025112216441516:44, 22 November 2025
Neurotransmitter disordersHomo sapiensElisson nl2024021216210916:21, 12 February 2024yes
Purine metabolism and related disordersHomo sapiensFehrhart2025091708274908:27, 17 September 2025yes
Pyrimidine metabolism and related diseasesHomo sapiensFehrhart2025071406452706:45, 14 July 20252025101612124712:12, 16 October 2025
Vitamin B6-dependent and responsive disordersHomo sapiensFehrhart2024112811514911:51, 28 November 2024yes
Krebs cycle disordersHomo sapiensFehrhart2025071406453506:45, 14 July 2025yes
Disorders of folate metabolism and transportHomo sapiensFehrhart2025091708275608:27, 17 September 20252025102205161805:16, 22 October 2025
Vitamin B12 disordersHomo sapiensFehrhart2025071406455006:45, 14 July 2025yes
MTHFR deficiencyHomo sapiensFehrhart2025081208512408:51, 12 August 2025yes
Methionine metabolism leading to sulfur amino acids and related disordersHomo sapiensFehrhart2025071406460606:46, 14 July 2025yes
Thiamine metabolic pathwaysHomo sapiensEweitz2024031612094112:09, 16 March 2024yes
Acute viral myocarditisHomo sapiensFehrhart2025081208513108:51, 12 August 2025yes
Lamin A processing pathwayHomo sapiensFehrhart2024112811534211:53, 28 November 2024yes
Rett syndromeHomo sapiensFehrhart2024112811535011:53, 28 November 2024yes
Effect of progerin on genes involved in progeriaHomo sapiensFehrhart2024112811540911:54, 28 November 20242025112002503802:50, 20 November 2025
Cysteine and methionine catabolismHomo sapiensFehrhart2025091708280108:28, 17 September 20252025102512221212:22, 25 October 2025
Tyrosine metabolism and related disordersHomo sapiensFehrhart2024112811542211:54, 28 November 2024yes
Molybdenum cofactor (Moco) biosynthesisHomo sapiensFehrhart2025071406461706:46, 14 July 2025yes
Gamma-glutamyl cycle for the biosynthesis and degradation of glutathioneHomo sapiensFehrhart2024112811545311:54, 28 November 20242025112219201219:20, 22 November 2025
Cerebral organic acidurias, including diseasesHomo sapiensSusan2025100520422020:42, 5 October 2025yes
Glycosylation and related congenital defectsHomo sapiensFehrhart2025022409162009:16, 24 February 2025yes
Metabolic pathway of LDL, HDL and TG, including diseasesHomo sapiensFehrhart2025071406463006:46, 14 July 2025yes
Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolismHomo sapiensDeSl2025110709360309:36, 7 November 2025yes
Alternative pathway of fetal androgen synthesisHomo sapiensFehrhart2025071406464506:46, 14 July 20252025103000340500:34, 30 October 2025
Envelope proteins and their potential roles in EDMD physiopathologyHomo sapiensFehrhart2025071406465306:46, 14 July 2025yes
Hippo signaling regulationHomo sapiensFehrhart2024112811561711:56, 28 November 20242025112912590412:59, 29 November 2025
Hippo-Merlin signaling dysregulationHomo sapiensFehrhart2024112811562611:56, 28 November 2024yes
Oxysterols derived from cholesterolHomo sapiensElisson nl2024021216150516:15, 12 February 2024yes
Fragile X syndromeHomo sapiensFehrhart2025071406470106:47, 14 July 20252025112216380716:38, 22 November 2025
Neurodegeneration with brain iron accumulation (NBIA) subtypes pathwayHomo sapiensElisson nl2024021216325816:32, 12 February 2024yes
Urea cycle and associated pathwaysHomo sapiensEgonw2025092115500315:50, 21 September 20252025101707343007:34, 17 October 2025
Joubert syndromeHomo sapiensEweitz2025020120564320:56, 1 February 2025yes
22q11.2 copy number variation syndromeHomo sapiensFehrhart2025071406471806:47, 14 July 20252026020906291306:29, 9 February 2026
Male infertilityHomo sapiensAlval2025121513574513:57, 15 December 2025yes
Leucine, isoleucine and valine metabolismHomo sapiensFehrhart2025071406472306:47, 14 July 2025yes
Serine metabolismHomo sapiensFehrhart2025091708280808:28, 17 September 2025yes
Thyroid hormones production and peripheral downstream signaling effectsHomo sapiensFehrhart2025091708281308:28, 17 September 2025yes
Purine metabolismHomo sapiensFehrhart2025071406473606:47, 14 July 2025yes
CiliopathiesHomo sapiensFehrhart2024112811571811:57, 28 November 20242025110312233912:23, 3 November 2025
Cholesterol biosynthesis with skeletal dysplasiasHomo sapiensFehrhart2025071406474106:47, 14 July 20252025110312181512:18, 3 November 2025
Somatic sex determinationHomo sapiensFehrhart2025022409252909:25, 24 February 2025yes
Genes controlling nephrogenesisHomo sapiensFehrhart2025022409253609:25, 24 February 20252025112300165000:16, 23 November 2025
GDNF/RET signaling axisHomo sapiensFehrhart2025081208514108:51, 12 August 2025yes
Peroxiredoxin 2 induced ovarian failureMus musculusFehrhart2024112811573211:57, 28 November 2024yes
Mammalian disorder of sexual developmentHomo sapiensFehrhart2024112115040015:04, 21 November 2024yes
Influence of laminopathies on Wnt signalingHomo sapiensFehrhart2024112811591411:59, 28 November 20242025120111540711:54, 1 December 2025
Kisspeptin/kisspeptin receptor system in the ovaryHomo sapiensFehrhart2025081208514708:51, 12 August 2025yes
Overlap between signal transduction pathways contributing to LMNA laminopathiesHomo sapiensFehrhart2024112811592911:59, 28 November 2024yes
1q21.1 copy number variation syndromeHomo sapiensFehrhart2024112811593511:59, 28 November 20242025102910545510:54, 29 October 2025
3q29 copy number variation syndromeHomo sapiensFehrhart2025091708291708:29, 17 September 2025yes
7q11.23 copy number variation syndromeHomo sapiensFehrhart2024112811594711:59, 28 November 20242025101905494405:49, 19 October 2025
15q11.2 copy number variation syndromeHomo sapiensFehrhart2025091708294408:29, 17 September 2025yes
15q13.3 copy number variation syndromeHomo sapiensFehrhart2025071406475106:47, 14 July 2025yes
Nitric oxide metabolism in cystic fibrosisHomo sapiensFehrhart2021052810212610:21, 28 May 2021yes
16p11.2 proximal deletion syndromeHomo sapiensFehrhart2025091708295108:29, 17 September 2025yes
16p11.2 distal deletion syndromeHomo sapiensFehrhart2025071406475806:47, 14 July 2025yes
Phosphoinositides metabolismHomo sapiensSusan2025100520413020:41, 5 October 2025yes
Proline and hydroxyproline pathwaysHomo sapiensSusan2025100520403320:40, 5 October 20252025110206490106:49, 2 November 2025
Glycine metabolism, including IMDsHomo sapiensFehrhart2025091708295708:29, 17 September 20252025110206494506:49, 2 November 2025
Amino acid transport defects (IEMs)Homo sapiensEweitz2025102902145802:14, 29 October 20252025102902161402:16, 29 October 2025
Ethylmalonic encephalopathyHomo sapiensFehrhart2025091708300108:30, 17 September 2025yes
Biotin metabolism, including IMDsHomo sapiensFehrhart2022042210510910:51, 22 April 20222025103114415014:41, 31 October 2025
Riboflavin and CoQ disordersHomo sapiensFehrhart2025091708300608:30, 17 September 2025yes
Development of ureteric derived collecting systemHomo sapiensFehrhart2025081208520308:52, 12 August 2025yes
Kallmann syndromeHomo sapiensFehrhart2025071406480706:48, 14 July 20252026010111373811:37, 1 January 2026
Pleural mesotheliomaHomo sapiensFehrhart2025091708301108:30, 17 September 2025yes
Congenital generalized lipodystrophyHomo sapiensFehrhart2022092008403508:40, 20 September 20222025110312381412:38, 3 November 2025
Familial partial lipodystrophyHomo sapiensFehrhart2025071406481606:48, 14 July 20252025112214155714:15, 22 November 2025
Progeria-associated lipodystrophyHomo sapiensMaintBot2021062006281706:28, 20 June 2021yes
Acquired partial lipodystrophy / Barraquer-Simons syndromeHomo sapiensElisson nl2024021216262516:26, 12 February 20242025102923583123:58, 29 October 2025
Meta pathway lipodystrophy, dyslipidemia and hyperlipidemiaHomo sapiensFehrhart2025071406482106:48, 14 July 2025yes
Familial hyperlipidemia type 1Homo sapiensFehrhart2024112812021512:02, 28 November 20242025112213482313:48, 22 November 2025
Familial hyperlipidemia type 2Homo sapiensFehrhart2025071406482806:48, 14 July 20252025112213495413:49, 22 November 2025
Familial hyperlipidemia type 3Homo sapiensFehrhart2024112812022712:02, 28 November 20242025112213505113:50, 22 November 2025
Familial hyperlipidemia type 4Homo sapiensFehrhart2024112812023212:02, 28 November 20242025112213524113:52, 22 November 2025
Familial hyperlipidemia type 5Homo sapiensFehrhart2024112812023812:02, 28 November 20242025112214033614:03, 22 November 2025
Nucleotide excision repair in xeroderma pigmentosum Homo sapiensFehrhart2025071406494606:49, 14 July 2025yes
Inclusion body myositisHomo sapiensMkutmon2023021314171714:17, 13 February 20232025120111451711:45, 1 December 2025
Alzheimer's diseaseHomo sapiensDeSl2026013016284716:28, 30 January 2026yes
Calcium mediated T-cell apoptosis involved in inclusion body myositisHomo sapiensFehrhart2025081208521108:52, 12 August 2025yes
Spina bifidaHomo sapiensFehrhart2024112812030412:03, 28 November 2024yes
Glyoxylate metabolismHomo sapiensFehrhart2025022409255909:25, 24 February 20252025112816183016:18, 28 November 2025
Hemesynthesis defects and porphyriasHomo sapiensFehrhart2024112812031712:03, 28 November 20242025112912271712:27, 29 November 2025
Leukotriene metabolic pathwayHomo sapiensFehrhart2023020312202712:20, 3 February 2023yes
Iron metabolism disordersHomo sapiensFehrhart2025091708302108:30, 17 September 2025yes
Disorders of galactose metabolism Homo sapiensFehrhart2025022409144909:14, 24 February 20252025111103461103:46, 11 November 2025
Disorders in ketone body synthesisHomo sapiensSusan2025100520395120:39, 5 October 2025yes
Disorders of bile acid synthesis and biliary transportHomo sapiensFehrhart2024112812045512:04, 28 November 20242025111113272013:27, 11 November 2025
Disorders of fructose metabolismHomo sapiensFehrhart2024112812050112:05, 28 November 20242025111103125503:12, 11 November 2025
Copper metabolismHomo sapiensFehrhart2025091708302708:30, 17 September 2025yes
Creatine pathwayHomo sapiensDeSl2025110617081417:08, 6 November 2025yes
Cholesterol synthesis disordersHomo sapiensFehrhart2024112812052012:05, 28 November 20242025110312213212:21, 3 November 2025
Disorders in ketolysisHomo sapiensFehrhart2025071406492406:49, 14 July 20252025111103093603:09, 11 November 2025
Dravet syndromeHomo sapiensFehrhart2025081208521508:52, 12 August 2025yes
Alstrom syndromeHomo sapiensFehrhart2024112812054112:05, 28 November 20242025103000235700:23, 30 October 2025
2q11.2 copy number variation syndromeHomo sapiensFehrhart2024112812054712:05, 28 November 20242025102910555410:55, 29 October 2025
2q13 copy number variation syndromeHomo sapiensFehrhart2025091708230508:23, 17 September 2025yes
2q21.1 copy number variation syndromeHomo sapiensFehrhart2024112812055812:05, 28 November 20242025102910565110:56, 29 October 2025
2q37 copy number variation syndromeHomo sapiensFehrhart2025091708223708:22, 17 September 2025yes
Bardet-Biedl syndromeHomo sapiensFehrhart2024112812061012:06, 28 November 20242025103103454903:45, 31 October 2025
Genetic causes of porto-sinusoidal vascular diseaseHomo sapiensFehrhart2025081208541908:54, 12 August 2025yes
17q12 copy number variation syndromeHomo sapiensFehrhart2025071406491706:49, 14 July 2025yes
Dravet syndrome: Scn1a-A1783V point mutation modelMus musculusDeSl2026013015410815:41, 30 January 20262026021119150719:15, 11 February 2026
1p36 copy number variation syndromeHomo sapiensFehrhart2024112812062512:06, 28 November 2024yes
8p23.1 copy number variation syndromeHomo sapiensFehrhart2025091708303108:30, 17 September 2025yes
11p11.2 copy number variation syndrome Homo sapiensFehrhart2025091708303608:30, 17 September 2025yes
Kleefstra syndromeHomo sapiensFehrhart2024112812082612:08, 28 November 2024yes
10q11.21q11.23 copy number variation syndromeHomo sapiensFehrhart2025091708304308:30, 17 September 2025yes
Metabolic epileptic disordersHomo sapiensElisson nl2024051318362318:36, 13 May 2024yes
Affected pathways in Duchenne muscular dystrophyHomo sapiensFehrhart2025071406490006:49, 14 July 2025yes
KCNQ2-related epilepsiesHomo sapiensFehrhart2025071406485506:48, 14 July 2025yes
TAR syndromeHomo sapiensFehrhart2024112812084512:08, 28 November 2024yes
4p16.3 copy number variationHomo sapiensFehrhart2025081208524208:52, 12 August 2025yes
NF1 copy number variation syndrome Homo sapiensFehrhart2024112812085812:08, 28 November 2024yes
17p13.3 (YWHAE) copy number variationHomo sapiensFehrhart2024112812090412:09, 28 November 20242025102910534810:53, 29 October 2025
5q35 copy number variationHomo sapiensFehrhart2025091708215408:21, 17 September 2025yes
Smith-Magenis and Potocki-Lupski syndrome copy number variationHomo sapiensFehrhart2024112812091612:09, 28 November 2024yes
NPHP1 deletion syndromeHomo sapiensFehrhart2024112812092212:09, 28 November 2024yes
10q22q23 copy number variationHomo sapiensFehrhart2025081208525108:52, 12 August 2025yes
13q12 or CRYL1 copy number variation Homo sapiensFehrhart2024112812093412:09, 28 November 20242025102910483710:48, 29 October 2025
13q12.12 copy number variationHomo sapiensFehrhart2024112812094012:09, 28 November 20242025102910500210:50, 29 October 2025
15q11q13 copy number variationHomo sapiensFehrhart2025081208525608:52, 12 August 2025yes
15q25 copy number variationHomo sapiensFehrhart2024112812095212:09, 28 November 2024yes
PAFAH1B1 copy number variationHomo sapiensFehrhart2024112812095812:09, 28 November 2024yes
8q11.23 (RB1CC1) copy number variationHomo sapiensFehrhart2024112812100612:10, 28 November 20242025102911025511:02, 29 October 2025
Effect of omega-3 PUFA on Huntington's disease pathwaysHomo sapiensFehrhart2025071406483906:48, 14 July 20252025102120473420:47, 21 October 2025
16p13.11 copy number variation syndrome Homo sapiensEgonw2024121720380320:38, 17 December 20242025102910512210:51, 29 October 2025
16p12.2 copy number variation syndrome (520kb)Homo sapiensFehrhart2025071406483606:48, 14 July 2025yes
ANK2 pathway in epilepsy developmentHomo sapiensFehrhart2025091708305808:30, 17 September 2025yes
RNA-polymerase II transcription: the preinitiation complexHomo sapiensFehrhart2025081208530308:53, 12 August 2025yes
FACT complex and DNA double-strand break repairHomo sapiensEweitz2025102902021302:02, 29 October 2025yes
Transcription activation (RNA-polymerase I and KAT2A/B) and inhibition (NuRD complex)Homo sapiensFehrhart2025091708310908:31, 17 September 20252025112119100619:10, 21 November 2025
SHANK3 pathway involved in Phelan-McDermid syndromeHomo sapiensEweitz2025110312584912:58, 3 November 2025yes
Telomere end packaging and neurodevelopmental disordersHomo sapiensFehrhart2025081208532108:53, 12 August 2025yes
SOX genes and their influence on neurogenesis and neurodevelopmental disordersHomo sapiensFehrhart2025091708311408:31, 17 September 2025yes
Nucleosome remodeling complexHomo sapiensFehrhart2025081208534808:53, 12 August 20252025102901541301:54, 29 October 2025
Tessadori-Bicknell-van Haaften syndrome variants: nucleosome assemblyHomo sapiensFehrhart2025081208535708:53, 12 August 20252025112119085119:08, 21 November 2025
Tessadori-Bicknell-van Haaften syndrome 3 overview pathwayHomo sapiensFehrhart2025081109374609:37, 11 August 2025yes
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