Curation tag: Community: Rare Diseases

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The table below shows all 137 pathways that are tagged with curation tag: Community: Rare Diseases.

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Pathway name  ↓Organism  ↓Tagged by  ↓Date tagged  ↓Applies to latest revision  ↓
Alzheimer's disease and miRNA effectsHomo sapiensFehrhart2024112811483711:48, 28 November 20242025030711510411:51, 7 March 2025
Parkinson's disease pathwayHomo sapiensElisson nl2024021216530216:53, 12 February 20242025030806344806:34, 8 March 2025
Amyotrophic lateral sclerosis (ALS)Homo sapiensElisson nl2024021217144717:14, 12 February 20242025030806365806:36, 8 March 2025
MECP2 and associated Rett syndromeHomo sapiensFehrhart2024112811484911:48, 28 November 20242025031021103921:10, 10 March 2025
ERK pathway in Huntington's diseaseHomo sapiensFehrhart2024031108345508:34, 11 March 20242025030108593908:59, 1 March 2025
Prion disease pathwayHomo sapiensElisson nl2024051318501418:50, 13 May 20242025030620013320:01, 6 March 2025
Prader-Willi and Angelman syndromeHomo sapiensFehrhart2024112811490111:49, 28 November 20242025030620005520:00, 6 March 2025
Degradation pathway of sphingolipids, including diseasesHomo sapiensFehrhart2024112811503511:50, 28 November 20242025031018363218:36, 10 March 2025
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanineHomo sapiensFehrhart2024112811504311:50, 28 November 20242025030212373012:37, 2 March 2025
GABA metabolism (aka GHB)Homo sapiensFehrhart2024112811505711:50, 28 November 20242025030506140406:14, 5 March 2025
Neurotransmitter disordersHomo sapiensElisson nl2024021216210916:21, 12 February 2024yes
Purine metabolism and related disordersHomo sapiensEgonw2024072005404905:40, 20 July 20242025030308244508:24, 3 March 2025
Pyrimidine metabolism and related diseasesHomo sapiensFehrhart2024112811510511:51, 28 November 2024yes
Vitamin B6-dependent and responsive disordersHomo sapiensFehrhart2024112811514911:51, 28 November 2024yes
Krebs cycle disordersHomo sapiensFehrhart2024112811515711:51, 28 November 20242025030515442815:44, 5 March 2025
Disorders of folate metabolism and transportHomo sapiensFehrhart2024112811514211:51, 28 November 20242025030506245806:24, 5 March 2025
Vitamin B12 disordersHomo sapiensElisson nl2024021217091217:09, 12 February 20242025030515455415:45, 5 March 2025
MTHFR deficiencyHomo sapiensFehrhart2024112811532011:53, 28 November 20242025031018353818:35, 10 March 2025
Methionine metabolism leading to sulfur amino acids and related disordersHomo sapiensFehrhart2024112811532711:53, 28 November 20242025031018345418:34, 10 March 2025
Thiamine metabolic pathwaysHomo sapiensEweitz2024031612094112:09, 16 March 2024yes
Acute viral myocarditisHomo sapiensFehrhart2025022409252109:25, 24 February 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 2024yes
Cysteine and methionine catabolismHomo sapiensFehrhart2024112811541511:54, 28 November 20242025031018284618:28, 10 March 2025
Tyrosine metabolism and related disordersHomo sapiensFehrhart2024112811542211:54, 28 November 2024yes
Molybdenum cofactor (Moco) biosynthesisHomo sapiensFehrhart2024112811544611:54, 28 November 20242025031018281118:28, 10 March 2025
Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseasesHomo sapiensFehrhart2024112811545311:54, 28 November 2024yes
Cerebral organic acidurias, including diseasesHomo sapiensFehrhart2024112811550011:55, 28 November 20242025031412153612:15, 14 March 2025
Glycosylation and related congenital defectsHomo sapiensFehrhart2025022409162009:16, 24 February 2025yes
Metabolic pathway of LDL, HDL and TG, including diseasesHomo sapiensFehrhart2024112811551311:55, 28 November 20242025030720323320:32, 7 March 2025
Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolismHomo sapiensEweitz2024072012403512:40, 20 July 20242025030720341720:34, 7 March 2025
Alternative pathway of fetal androgen synthesisHomo sapiensElisson nl2024021216112216:11, 12 February 20242025031018261818:26, 10 March 2025
Envelope proteins and their potential roles in EDMD physiopathologyHomo sapiensFehrhart2024112811535811:53, 28 November 2024yes
Hippo signaling regulationHomo sapiensFehrhart2024112811561711:56, 28 November 2024yes
Hippo-Merlin signaling dysregulationHomo sapiensFehrhart2024112811562611:56, 28 November 2024yes
Oxysterols derived from cholesterolHomo sapiensElisson nl2024021216150516:15, 12 February 2024yes
Fragile X syndromeHomo sapiensFehrhart2024112811563211:56, 28 November 2024yes
Neurodegeneration with brain iron accumulation (NBIA) subtypes pathwayHomo sapiensElisson nl2024021216325816:32, 12 February 2024yes
Urea cycle and associated pathwaysHomo sapiensFehrhart2024112811563911:56, 28 November 20242025030123295423:29, 1 March 2025
Joubert syndromeHomo sapiensEweitz2025020120564320:56, 1 February 2025yes
22q11.2 copy number variation syndromeHomo sapiensFehrhart2024112811570111:57, 28 November 2024yes
Male infertilityHomo sapiensMarvin M22021092008553208:55, 20 September 2021yes
Leucine, isoleucine and valine metabolismHomo sapiensFehrhart2024112811570711:57, 28 November 2024yes
Serine metabolismHomo sapiensFehrhart2021113009422609:42, 30 November 2021yes
Thyroid hormones production and peripheral downstream signaling effectsHomo sapiensFehrhart2024112115052715:05, 21 November 2024yes
Purine metabolismHomo sapiensFehrhart2024112811571211:57, 28 November 20242025031017285117:28, 10 March 2025
CiliopathiesHomo sapiensFehrhart2024112811571811:57, 28 November 2024yes
Cholesterol biosynthesis with skeletal dysplasiasHomo sapiensFehrhart2024112811572411:57, 28 November 20242025031017273617:27, 10 March 2025
Somatic sex determinationHomo sapiensFehrhart2025022409252909:25, 24 February 2025yes
Genes controlling nephrogenesisHomo sapiensFehrhart2025022409253609:25, 24 February 2025yes
GDNF/RET signaling axisHomo sapiensFehrhart2025022409254109:25, 24 February 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 2024yes
Kisspeptin/kisspeptin receptor system in the ovaryHomo sapiensFehrhart2024112811592211:59, 28 November 2024yes
Overlap between signal transduction pathways contributing to LMNA laminopathiesHomo sapiensFehrhart2024112811592911:59, 28 November 2024yes
1q21.1 copy number variation syndromeHomo sapiensFehrhart2024112811593511:59, 28 November 2024yes
3q29 copy number variation syndromeHomo sapiensFehrhart2024112811594111:59, 28 November 2024yes
7q11.23 copy number variation syndromeHomo sapiensFehrhart2024112811594711:59, 28 November 2024yes
15q11.2 copy number variation syndromeHomo sapiensFehrhart2024112811595411:59, 28 November 2024yes
15q13.3 copy number variation syndromeHomo sapiensFehrhart2024112812000112:00, 28 November 2024yes
Nitric oxide metabolism in cystic fibrosisHomo sapiensFehrhart2021052810212610:21, 28 May 2021yes
16p11.2 proximal deletion syndromeHomo sapiensFehrhart2024112812000812:00, 28 November 2024yes
16p11.2 distal deletion syndromeHomo sapiensFehrhart2024112812001412:00, 28 November 2024yes
Phosphoinositides metabolismHomo sapiensFehrhart2024112812002212:00, 28 November 20242025030806284906:28, 8 March 2025
Proline and hydroxyproline pathwaysHomo sapiensFehrhart2024112812002912:00, 28 November 2024yes
Glycine metabolism, including IMDsHomo sapiensDeSl2024011511084111:08, 15 January 2024yes
Amino acid transport defects (IEMs)Homo sapiensElisson nl2024021216104916:10, 12 February 2024yes
Ethylmalonic encephalopathyHomo sapiensFehrhart2024112812003512:00, 28 November 2024yes
Biotin metabolism, including IMDsHomo sapiensFehrhart2022042210510910:51, 22 April 2022yes
Riboflavin and CoQ disordersHomo sapiensFehrhart2024112812004012:00, 28 November 2024yes
Development of ureteric derived collecting systemHomo sapiensDuan2025021410085010:08, 14 February 2025yes
Kallmann syndromeHomo sapiensFehrhart2024112812004612:00, 28 November 2024yes
Pleural mesotheliomaHomo sapiensFehrhart2024112811590811:59, 28 November 20242025030123355323:35, 1 March 2025
Congenital generalized lipodystrophyHomo sapiensFehrhart2022092008403508:40, 20 September 2022yes
Familial partial lipodystrophyHomo sapiensFehrhart2022092008403908:40, 20 September 20222025030215142315:14, 2 March 2025
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 sapiensFehrhart2024112812020812:02, 28 November 20242025030806304606:30, 8 March 2025
Familial hyperlipidemia type 1Homo sapiensFehrhart2024112812021512:02, 28 November 2024yes
Familial hyperlipidemia type 2Homo sapiensFehrhart2025022409254609:25, 24 February 20252025022500563300:56, 25 February 2025
Familial hyperlipidemia type 3Homo sapiensFehrhart2024112812022712:02, 28 November 2024yes
Familial hyperlipidemia type 4Homo sapiensFehrhart2024112812023212:02, 28 November 2024yes
Familial hyperlipidemia type 5Homo sapiensFehrhart2024112812023812:02, 28 November 2024yes
Nucleotide excision repair in xeroderma pigmentosum Homo sapiensFehrhart2024112812024412:02, 28 November 20242025030806312106:31, 8 March 2025
Inclusion body myositisHomo sapiensMkutmon2023021314171714:17, 13 February 2023yes
Alzheimer's diseaseHomo sapiensFehrhart2025022409255309:25, 24 February 20252025030521583821:58, 5 March 2025
Calcium mediated T-cell apoptosis involved in inclusion body myositisHomo sapiensFehrhart2024112812025712:02, 28 November 2024yes
Spina bifidaHomo sapiensFehrhart2024112812030412:03, 28 November 2024yes
Glyoxylate metabolismHomo sapiensFehrhart2025022409255909:25, 24 February 2025yes
Hemesynthesis defects and porphyriasHomo sapiensFehrhart2024112812031712:03, 28 November 2024yes
Leukotriene metabolic pathwayHomo sapiensFehrhart2023020312202712:20, 3 February 2023yes
Iron metabolism disordersHomo sapiensDeSl2024120513445313:44, 5 December 2024yes
Disorders of galactose metabolism Homo sapiensFehrhart2025022409144909:14, 24 February 2025yes
Disorders in ketone body synthesisHomo sapiensFehrhart2024112812033212:03, 28 November 20242025030705150305:15, 7 March 2025
Disorders of bile acid synthesis and biliary transportHomo sapiensFehrhart2024112812045512:04, 28 November 2024yes
Disorders of fructose metabolismHomo sapiensFehrhart2024112812050112:05, 28 November 2024yes
Copper metabolismHomo sapiensFehrhart2025022409260609:26, 24 February 2025yes
Creatine pathwayHomo sapiensFehrhart2024112812051212:05, 28 November 20242025031422372222:37, 14 March 2025
Cholesterol synthesis disordersHomo sapiensFehrhart2024112812052012:05, 28 November 2024yes
Disorders in ketolysisHomo sapiensFehrhart2024112812052712:05, 28 November 20242025030705182705:18, 7 March 2025
Dravet syndromeHomo sapiensFehrhart2024112812053512:05, 28 November 2024yes
Alstrom syndromeHomo sapiensFehrhart2024112812054112:05, 28 November 2024yes
2q11.2 copy number variation syndromeHomo sapiensFehrhart2024112812054712:05, 28 November 2024yes
2q13 copy number variation syndromeHomo sapiensFehrhart2024112812055212:05, 28 November 2024yes
2q21.1 copy number variation syndromeHomo sapiensFehrhart2024112812055812:05, 28 November 2024yes
2q37 copy number variation syndromeHomo sapiensFehrhart2024112812060312:06, 28 November 20242025030123402623:40, 1 March 2025
Bardet-Biedl syndromeHomo sapiensFehrhart2024112812061012:06, 28 November 2024yes
Genetic causes of porto-sinusoidal vascular diseaseHomo sapiensElisson nl2024021216325316:32, 12 February 2024yes
17q12 copy number variation syndromeHomo sapiensFehrhart2024112812061612:06, 28 November 2024yes
Dravet syndrome: Scn1a-A1783V point mutation modelMus musculusFehrhart2022110816091916:09, 8 November 2022yes
1p36 copy number variation syndromeHomo sapiensFehrhart2024112812062512:06, 28 November 2024yes
8p23.1 copy number variation syndromeHomo sapiensFehrhart2024112812080412:08, 28 November 2024yes
11p11.2 copy number variation syndrome Homo sapiensFehrhart2024112812081612:08, 28 November 2024yes
Kleefstra syndromeHomo sapiensFehrhart2024112812082612:08, 28 November 2024yes
10q11.21q11.23 copy number variation syndromeHomo sapiensFehrhart2024112812083512:08, 28 November 2024yes
Metabolic epileptic disordersHomo sapiensElisson nl2024051318362318:36, 13 May 2024yes
Affected pathways in Duchenne muscular dystrophyHomo sapiensEweitz2025020201344001:34, 2 February 2025yes
KCNQ2-related epilepsiesHomo sapiensFehrhart2024012308472208:47, 23 January 2024yes
TAR syndromeHomo sapiensFehrhart2024112812084512:08, 28 November 2024yes
4p16.3 copy number variationHomo sapiensFehrhart2024112812085112:08, 28 November 2024yes
NF1 copy number variation syndrome Homo sapiensFehrhart2024112812085812:08, 28 November 2024yes
17p13.3 (YWHAE) copy number variationHomo sapiensFehrhart2024112812090412:09, 28 November 2024yes
5q35 copy number variationHomo sapiensFehrhart2024112812091012:09, 28 November 2024yes
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 sapiensFehrhart2024112812092812:09, 28 November 2024yes
13q12 or CRYL1 copy number variation Homo sapiensFehrhart2024112812093412:09, 28 November 2024yes
13q12.12 copy number variationHomo sapiensFehrhart2024112812094012:09, 28 November 2024yes
15q11q13 copy number variationHomo sapiensFehrhart2024112812094612:09, 28 November 2024yes
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 2024yes
Effect of omega-3 PUFA on Huntington's disease pathwaysHomo sapiensFehrhart2024112812101212:10, 28 November 20242025030705173005:17, 7 March 2025
16p13.11 copy number variation syndrome Homo sapiensEgonw2024121720380320:38, 17 December 2024yes
16p12.2 copy number variation syndrome (520kb)Homo sapiensFehrhart2025022409261209:26, 24 February 2025yes
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