Annotations
Disease Ontology
genetic disease (DOID:630)
A disease that has_material_basis_in genetic variations in the human genome.
Table Filters
- 10q22q23 copy number variation - WP5402 (Homo sapiens)
- 13q12 or CRYL1 copy number variation - WP5405 (Homo sapiens)
- 13q12.12 copy number variation - WP5406 (Homo sapiens)
- 15q11.2 copy number variation syndrome - WP4940 (Homo sapiens)
- 15q11q13 copy number variation - WP5407 (Homo sapiens)
- 15q13.3 copy number variation syndrome - WP4942 (Homo sapiens)
- 15q25 copy number variation - WP5408 (Homo sapiens)
- 16p11.2 distal deletion syndrome - WP4950 (Homo sapiens)
- 16p11.2 proximal deletion syndrome - WP4949 (Homo sapiens)
- 17p13.3 (YWHAE) copy number variation - WP5376 (Homo sapiens)
- 1p36 copy number variation syndrome - WP5345 (Homo sapiens)
- 1q21.1 copy number variation syndrome - WP4905 (Homo sapiens)
- 22q11.2 copy number variation syndrome - WP4657 (Homo sapiens)
- 3q29 copy number variation syndrome - WP4906 (Homo sapiens)
- 5q35 copy number variation - WP5380 (Homo sapiens)
- 6q16 copy number variation - WP5400 (Homo sapiens)
- 7-oxo-C and 7-beta-HC pathways - WP5064 (Homo sapiens)
- 7q11.23 copy number variation syndrome - WP4932 (Homo sapiens)
- 8p23.1 copy number variation syndrome - WP5346 (Homo sapiens)
- Abnormal calcium handling and its effects on muscle contraction in DMD - WP5343 (Homo sapiens)
- Affected pathways in Duchenne muscular dystrophy - WP5356 (Homo sapiens)
- Alstrom syndrome - WP5202 (Homo sapiens)
- Alternative pathway of fetal androgen synthesis - WP4524 (Homo sapiens)
- Amino acid transport defects (IEMs) - WP5029 (Homo sapiens)
- Autosomal recessive osteopetrosis pathways - WP4788 (Homo sapiens)
- Bardet-Biedl syndrome - WP5234 (Homo sapiens)
- Biomarkers for pyrimidine metabolism disorders - WP4584 (Homo sapiens)
- Biomarkers for urea cycle disorders - WP4583 (Homo sapiens)
- Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine - WP4156 (Homo sapiens)
- Biotin metabolism, including IMDs - WP5031 (Homo sapiens)
- Cerebral organic acidurias, including diseases - WP4519 (Homo sapiens)
- Cholesterol biosynthesis with skeletal dysplasias - WP4804 (Homo sapiens)
- Cholesterol synthesis disorders - WP5193 (Homo sapiens)
- Ciliary landscape - WP4352 (Homo sapiens)
- Ciliopathies - WP4803 (Homo sapiens)
- Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism - WP4523 (Homo sapiens)
- Codeine and morphine metabolism - WP1604 (Homo sapiens)
- Cohesin complex - Cornelia de Lange syndrome - WP5117 (Homo sapiens)
- Congenital generalized lipodystrophy - WP5101 (Homo sapiens)
- Copper metabolism - WP5189 (Homo sapiens)
- Creatine pathway - WP5190 (Homo sapiens)
- DNA IR-damage and cellular response via ATR - WP4016 (Homo sapiens)
- DYRK1A involvement regarding cell proliferation in brain development - WP5180 (Homo sapiens)
- Degradation pathway of sphingolipids, including diseases - WP4153 (Homo sapiens)
- Disorders in ketolysis - WP5195 (Homo sapiens)
- Disorders in ketone body synthesis - WP5175 (Homo sapiens)
- Disorders of bile acid synthesis and biliary transport - WP5176 (Homo sapiens)
- Disorders of folate metabolism and transport - WP4259 (Homo sapiens)
- Disorders of fructose metabolism - WP5178 (Homo sapiens)
- Disorders of galactose metabolism - WP5173 (Homo sapiens)
- Distal convoluted tubule 1 (DCT1) cell - WP4183 (Mus musculus)
- Dravet syndrome - WP5200 (Homo sapiens)
- Dravet syndrome: Scn1a-A1783V point mutation model - WP5298 (Mus musculus)
- Effect of progerin on genes involved in progeria - WP4320 (Homo sapiens)
- Endochondral ossification with skeletal dysplasias - WP4808 (Homo sapiens)
- Ether lipid biosynthesis - WP5275 (Homo sapiens)
- Ethylmalonic encephalopathy - WP5030 (Homo sapiens)
- FGF23 signaling in hypophosphatemic rickets and related disorders - WP4790 (Homo sapiens)
- FGFR3 signaling in chondrocyte proliferation and terminal differentiation - WP4767 (Homo sapiens)
- Familial hyperlipidemia type 1 - WP5108 (Homo sapiens)
- Familial hyperlipidemia type 2 - WP5109 (Homo sapiens)
- Familial hyperlipidemia type 3 - WP5110 (Homo sapiens)
- Familial hyperlipidemia type 4 - WP5111 (Homo sapiens)
- Familial hyperlipidemia type 5 - WP5112 (Homo sapiens)
- Familial partial lipodystrophy - WP5102 (Homo sapiens)
- Fatty acid beta-oxidation - WP143 (Homo sapiens)
- Fatty acid omega-oxidation - WP206 (Homo sapiens)
- Fatty acid omega-oxidation - WP970 (Bos taurus)
- Fragile X syndrome - WP4549 (Homo sapiens)
- Fructose metabolism in proximal tubules - WP3894 (Rattus norvegicus)
- GABA metabolism (aka GHB) - WP4157 (Homo sapiens)
- Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseases - WP4518 (Homo sapiens)
- Genetic causes of porto-sinusoidal vascular disease - WP5269 (Homo sapiens)
- Glycine metabolism, including IMDs - WP5028 (Homo sapiens)
- Glycosylation and related congenital defects - WP4521 (Homo sapiens)
- Glyoxylate metabolism - WP5166 (Homo sapiens)
- Hemesynthesis defects and porphyrias - WP5169 (Homo sapiens)
- Hexoses metabolism in proximal tubules - WP3916 (Rattus norvegicus)
- Influence of laminopathies on Wnt signaling - WP4844 (Homo sapiens)
- Intracellular trafficking proteins involved in CMT neuropathy - WP4856 (Homo sapiens)
- Iron metabolism disorders - WP5172 (Homo sapiens)
- Kleefstra syndrome - WP5351 (Homo sapiens)
- Krebs cycle disorders - WP4236 (Homo sapiens)
- Lamin A processing pathway - WP4299 (Homo sapiens)
- Leucine, isoleucine and valine metabolism - WP4686 (Homo sapiens)
- Leukotriene metabolic pathway - WP5171 (Homo sapiens)
- Lipid droplet metabolism - WP3901 (Rattus norvegicus)
- Liver steatosis adverse outcome pathway - WP4010 (Homo sapiens)
- MTHFR deficiency - WP4288 (Homo sapiens)
- Male mating - WP2287 (Caenorhabditis elegans)
- Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia - WP5105 (Homo sapiens)
- Metabolic pathway of LDL, HDL and TG, including diseases - WP4522 (Homo sapiens)
- Methionine metabolism leading to sulfur amino acids and related disorders - WP4292 (Homo sapiens)
- Mitochondrial fatty acid oxidation disorders - WP5123 (Homo sapiens)
- Molybdenum cofactor (Moco) biosynthesis - WP4507 (Homo sapiens)
- Multiple epiphyseal dysplasia and pseudoachondroplasia genes - WP4789 (Homo sapiens)
- NF1 copy number variation syndrome - WP5366 (Homo sapiens)
- NIPBL role in DNA damage - Cornelia de Lange syndrome - WP5119 (Homo sapiens)
- NPHP1 deletion syndrome - WP5399 (Homo sapiens)
- Neurotransmitter disorders - WP4220 (Homo sapiens)
- Nitric oxide metabolism in cystic fibrosis - WP4947 (Homo sapiens)
- Nonalcoholic fatty liver disease - WP4396 (Homo sapiens)
- Nucleotide excision repair in xeroderma pigmentosum - WP5114 (Homo sapiens)
- Overlap between signal transduction pathways contributing to LMNA laminopathies - WP4879 (Homo sapiens)
- Oxysterols derived from cholesterol - WP4545 (Homo sapiens)
- PAFAH1B1 copy number variation - WP5409 (Homo sapiens)
- Phosphoinositides metabolism - WP4971 (Homo sapiens)
- Prader-Willi and Angelman syndrome - WP3998 (Homo sapiens)
- Progeria-associated lipodystrophy - WP5103 (Homo sapiens)
- Proline and hydroxyproline pathways - WP5026 (Homo sapiens)
- Proteoglycan biosynthesis - WP4784 (Homo sapiens)
- Purine metabolism and related disorders - WP4224 (Homo sapiens)
- Pyrimidine metabolism and related diseases - WP4225 (Homo sapiens)
- Riboflavin and CoQ disorders - WP5037 (Homo sapiens)
- Rubinstein-Taybi syndrome 1 - WP5367 (Homo sapiens)
- SMC1/SMC3 role in DNA damage - Cornelia de Lange Syndrome - WP5118 (Homo sapiens)
- Serine metabolism - WP4688 (Homo sapiens)
- TGF-beta receptor signaling in skeletal dysplasias - WP4816 (Homo sapiens)
- Tgif disruption of Shh signaling - WP3674 (Homo sapiens)
- Thick ascending limb transporters - WP3882 (Rattus norvegicus)
- Tyrosine metabolism and related disorders - WP4506 (Homo sapiens)
- Ulcerative colitis signaling - WP5174 (Homo sapiens)
- Urea cycle and associated pathways - WP4595 (Homo sapiens)
- Urea cycle and related diseases - WP4571 (Homo sapiens)
- Vitamin B12 disorders - WP4271 (Homo sapiens)
- Vitamin B6-dependent and responsive disorders - WP4228 (Homo sapiens)