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CompoundsSubstances with curated findings
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PathwaysReactions grouped under one name
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Reference

Evidence

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Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

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Index

Pathways

Names from Reactome and WikiPathways

pathways in the graph: 3,812

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436 of 3,812 begin with D

Defective DOLK causes DOLK-CDGReactomeR-HSA-4755583
Defective DPAGT1 causes CDG-1j, CMSTA2ReactomeR-HSA-4549356
Defective DPM1 causes DPM1-CDGReactomeR-HSA-4717374
Defective DPM2 causes DPM2-CDGReactomeR-HSA-4719377
Defective DPM3 causes DPM3-CDGReactomeR-HSA-4719360

More of the reference layer

Biological processes
Anatomy
Cell types
Organisms
Materials
Regulatory assessments
Diseases

Evidence: Compounds · Outcomes · Papers · Search

Defective EXT1 causes exostoses 1, TRPS2 and CHDS

ReactomeR-HSA-3656253

Defective EXT2 causes exostoses 2ReactomeR-HSA-3656237

Defective F8 accelerates dissociation of the A2 domainReactomeR-HSA-9672387

Defective F8 binding to the cell membraneReactomeR-HSA-9672395

Defective F8 binding to von Willebrand factorReactomeR-HSA-9672393

Defective F8 cleavage by thrombinReactomeR-HSA-9672391

Defective F8 secretionReactomeR-HSA-9672397

Defective F8 sulfation at Y1699ReactomeR-HSA-9674519

Defective F9 activationReactomeR-HSA-9673221

Defective F9 secretionReactomeR-HSA-9673218

Defective F9 variant does not activate FXReactomeR-HSA-9673202

Defective factor IX causes hemophilia BReactomeR-HSA-9668250

Defective factor IX causes thrombophiliaReactomeR-HSA-9672383

Defective factor VIII causes hemophilia AReactomeR-HSA-9662001

Defective factor XII causes hereditary angioedemaReactomeR-HSA-9657688

Defective FMO3 causes TMAUReactomeR-HSA-5579019

Defective FV causes thrombophiliaReactomeR-HSA-9930483

Defective GALE causes EDGReactomeR-HSA-5609977

Defective GALK1 causes GALCT2ReactomeR-HSA-5609976

Defective GALM causes GALAC4ReactomeR-HSA-9931929

Defective GALNT12 causes CRCS1ReactomeR-HSA-5083636

Defective GALNT3 causes HFTCReactomeR-HSA-5083625

Defective GALT can cause GALCTReactomeR-HSA-5609978

Defective gamma-carboxylation of F9ReactomeR-HSA-9673240

Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)ReactomeR-HSA-5619073

Defective GCLC causes HAGGSDReactomeR-HSA-5578999

Defective GFPT1 causes CMSTA1ReactomeR-HSA-4085023

Defective GGT1 causes GLUTHReactomeR-HSA-5579022

Defective GGT1 in aflatoxin detoxification causes GLUTHReactomeR-HSA-9035968

Defective GNE causes sialuria, NK and IBM2ReactomeR-HSA-4085011

Defective GSS causes GSS deficiencyReactomeR-HSA-5579006

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding functionReactomeR-HSA-9704331

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding functionReactomeR-HSA-9704646

Defective HEXA causes GM2G1 (Hyaluronan metabolism)ReactomeR-HSA-3656234

Defective HEXB causes GM2G2 (Hyaluronan metabolism)ReactomeR-HSA-3656248

Defective HK1 causes hexokinase deficiency (HK deficiency)ReactomeR-HSA-5619056

Defective HLCS causes multiple carboxylase deficiencyReactomeR-HSA-3371599

Defective homologous recombination repair (HRR) due to BRCA1 loss of functionReactomeR-HSA-9701192

Defective homologous recombination repair (HRR) due to BRCA2 loss of functionReactomeR-HSA-9701190

Defective homologous recombination repair (HRR) due to PALB2 loss of functionReactomeR-HSA-9701193

Defective HPRT1 disrupts guanine and hypoxanthine salvageReactomeR-HSA-9734281

Defective Inhibition of DNA Recombination at TelomereReactomeR-HSA-9670621

Defective Inhibition of DNA Recombination at Telomere Due to ATRX MutationsReactomeR-HSA-9670615

Defective Inhibition of DNA Recombination at Telomere Due to DAXX MutationsReactomeR-HSA-9670613

Defective Intrinsic Pathway for ApoptosisReactomeR-HSA-9734009

Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of FunctionReactomeR-HSA-9645722

Defective LARGE causes MDDGA6 and MDDGB6ReactomeR-HSA-5083627

Defective LFNG causes SCDO3ReactomeR-HSA-5083630

Defective MAN1B1 causes MRT15ReactomeR-HSA-4793950

Defective MAOA causes BRUNSReactomeR-HSA-5579012

Defective MAT1A causes MATDReactomeR-HSA-5579024

Defective MGAT2 causes CDG-2aReactomeR-HSA-4793952

Defective Mismatch Repair Associated With MLH1ReactomeR-HSA-5545483

Defective Mismatch Repair Associated With MSH2ReactomeR-HSA-5632928

Defective Mismatch Repair Associated With MSH3ReactomeR-HSA-5632927

Defective Mismatch Repair Associated With MSH6ReactomeR-HSA-5632968

Defective Mismatch Repair Associated With PMS2ReactomeR-HSA-5632987

Defective MMAA causes MMA, cblA typeReactomeR-HSA-3359475

Defective MMAB causes MMA, cblB typeReactomeR-HSA-3359471

Defective MMACHC causes MAHCCReactomeR-HSA-3359474

Defective MMADHC causes MMAHCDReactomeR-HSA-3359473

Defective MOGS causes CDG-2bReactomeR-HSA-4793954

Defective MPDU1 causes CDG-1fReactomeR-HSA-4687000

Defective MPI causes MPI-CDGReactomeR-HSA-4043916

Defective MTR causes HMAGReactomeR-HSA-3359469

Defective MTRR causes HMAEReactomeR-HSA-3359467

Defective MUT causes MMAMReactomeR-HSA-3359478

Defective NEU1 causes sialidosisReactomeR-HSA-4341670

Defective neurotransmitter clearance by SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)ReactomeR-HSA-5619081

Defective NTHL1 substrate bindingReactomeR-HSA-9630222

Defective NTHL1 substrate processingReactomeR-HSA-9630221

Defective OGG1 Substrate BindingReactomeR-HSA-9656255

Defective OGG1 Substrate ProcessingReactomeR-HSA-9656256

Defective OPLAH causes OPLAHDReactomeR-HSA-5578998

Defective PAPSS2 causes SEMD-PAReactomeR-HSA-3560796

Defective PGM1 causes PGM1-CDGReactomeR-HSA-5609974

Defective PMM2 causes PMM2-CDGReactomeR-HSA-4043911

Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosineReactomeR-HSA-9735763

Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3ReactomeR-HSA-5083628

Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1ReactomeR-HSA-5083633

Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2ReactomeR-HSA-5083629

Defective pro-SFTPB causes SMDP1 and RDSReactomeR-HSA-5688031

Defective pro-SFTPC causes SMDP2 and RDSReactomeR-HSA-5688354

Defective pyroptosisReactomeR-HSA-9710421

Defective regulation of TLR7 by endogenous ligandReactomeR-HSA-9824856

Defective RFT1 causes CDG-1nReactomeR-HSA-4570571

Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)ReactomeR-HSA-5619042

Defective RIPK1-mediated regulated necrosisReactomeR-HSA-9693928

Defective SERPING1 causes hereditary angioedemaReactomeR-HSA-9657689

Defective SFTPA2 causes IPFReactomeR-HSA-5687868

Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)ReactomeR-HSA-5619048

Defective SLC12A1 causes Bartter syndrome 1 (BS1)ReactomeR-HSA-5619104

Defective SLC12A3 causes Gitelman syndrome (GS)ReactomeR-HSA-5619087

Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)ReactomeR-HSA-5619039

Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)ReactomeR-HSA-5619070

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