| Organism name | Haematoxylum campechianum | 
|---|---|
| Genus | Haematoxylum | 
| Family | Fabaceae | 
| Kingdom | Plantae | 
| Linked NCBI taxonomy name | Haematoxylum campechianum | 
|---|---|
| Linked NCBI taxonomy ID | 321551 | 
| Linked level | species | 
| Family in NCBI taxonomy | Fabaceae | 
|---|---|
| ID | 3803 | 
| Kingdom (Superkingdom) in NCBI taxonomy | Viridiplantae | 
|---|---|
| ID | 33090 | 
| Plant class | rosids | 
|---|---|
| ID | 71275 | 
| Species | Activity | 
|---|---|
| Haematoxylum campechianum L. | Abortifacient | 
| Haematoxylum campechianum L. | Aldose-Reductase-Inhibitor | 
| Haematoxylum campechianum L. | Analgesic | 
| Haematoxylum campechianum L. | Antiaggregant | 
| Haematoxylum campechianum L. | Antibacterial | 
| Haematoxylum campechianum L. | Antiedemic | 
| Haematoxylum campechianum L. | Antifertility | 
| Haematoxylum campechianum L. | Antiherpetic | 
| Haematoxylum campechianum L. | Antiinflammatory | 
| Haematoxylum campechianum L. | Antiinflammatory | 
| Haematoxylum campechianum L. | Antimelanic | 
| Haematoxylum campechianum L. | Antimelanic | 
| Haematoxylum campechianum L. | Antioxidant | 
| Haematoxylum campechianum L. | Antiseptic | 
| Haematoxylum campechianum L. | Antiseptic | 
| Haematoxylum campechianum L. | Antiviral | 
| Haematoxylum campechianum L. | Astringent | 
| Haematoxylum campechianum L. | Astringent | 
| Haematoxylum campechianum L. | Bactericide | 
| Haematoxylum campechianum L. | Capillariprotective | 
| Haematoxylum campechianum L. | Decoagulant | 
| Haematoxylum campechianum L. | Depurative | 
| Haematoxylum campechianum L. | Depurative | 
| Haematoxylum campechianum L. | Diuretic | 
| Haematoxylum campechianum L. | Emmenagogue | 
| Haematoxylum campechianum L. | Febrifuge | 
| Haematoxylum campechianum L. | Gastroprotective | 
| Haematoxylum campechianum L. | Hemostat | 
| Haematoxylum campechianum L. | Hemostat | 
| Haematoxylum campechianum L. | Hepatoprotective | 
| Haematoxylum campechianum L. | Tonic | 
| Haematoxylum campechianum L. | Tonic | 
| KNApSAcK ID | name | ChEMBL link | CTD link | # of proteins in ChEMBL interaction / related OMIM / related KEGG DISEASE | # of genes in CTD interaction / related diseases | KCF-S cluster | phytochemical cluster | figure | 
|---|---|---|---|---|---|---|---|---|
| C00002993   | Haematoxylin | CHEMBL477197 CHEMBL1448387 CHEMBL1479103 | D006416 | 70 / 83 / 92 | No. 1670 |   | 
| accession | description | class description | KNApSAcK metabolite in interactions | # of diseases (OMIM / KEGG) | 
|---|---|---|---|---|
| P04637 | Cellular tumor antigen p53 | Transcription Factor | C00002993 | 7 / 37 | 
| Q07820 | Induced myeloid leukemia cell differentiation protein Mcl-1 | Other cytosolic protein | C00002993 | 0 / 0 | 
| Q16637 | Survival motor neuron protein | Unclassified protein | C00002993 | 4 / 1 | 
| Q9UIF8 | Bromodomain adjacent to zinc finger domain protein 2B | Unclassified protein | C00002993 | 0 / 0 | 
| Q99700 | Ataxin-2 | Unclassified protein | C00002993 | 1 / 1 | 
| P49798 | Regulator of G-protein signaling 4 | Unclassified protein | C00002993 | 2 / 0 | 
| Q12809 | Potassium voltage-gated channel subfamily H member 2 | KCNH, Kv10-12.x (Ether-a-go-go) | C00002993 | 2 / 2 | 
| P06746 | DNA polymerase beta | Enzyme | C00002993 | 0 / 0 | 
| P21802 | Fibroblast growth factor receptor 2 | TK tyrosine-protein kinase TLK subfamily | C00002993 | 9 / 3 | 
| P04062 | Glucosylceramidase | Enzyme | C00002993 | 6 / 4 | 
| P10253 | Lysosomal alpha-glucosidase | Hydrolase | C00002993 | 1 / 1 | 
| Q13526 | Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 | Enzyme | C00002993 | 0 / 0 | 
| Q13315 | Serine-protein kinase ATM | Atypical serine/threonine protein kinase PIKK subfamily | C00002993 | 1 / 4 | 
| P16473 | Thyrotropin receptor | Glycohormone receptor | C00002993 | 3 / 2 | 
| Q00535 | Cyclin-dependent kinase 5 | Cdk5 | C00002993 | 0 / 0 | 
| Q15078 | Cyclin-dependent kinase 5 activator 1 | REG serine/threonine protein kinase family | C00002993 | 0 / 0 | 
| P00533 | Epidermal growth factor receptor | TK tyrosine-protein kinase EGFR subfamily | C00002993 | 1 / 8 | 
| P11473 | Vitamin D3 receptor | NR1I1 | C00002993 | 2 / 3 | 
| O15296 | Arachidonate 15-lipoxygenase B | Enzyme | C00002993 | 0 / 0 | 
| P17948 | Vascular endothelial growth factor receptor 1 | Vegfr | C00002993 | 0 / 0 | 
| P00352 | Retinal dehydrogenase 1 | Enzyme | C00002993 | 0 / 0 | 
| P39748 | Flap endonuclease 1 | Enzyme | C00002993 | 0 / 0 | 
| Q92830 | Histone acetyltransferase KAT2A | Enzyme | C00002993 | 0 / 0 | 
| P11413 | Glucose-6-phosphate 1-dehydrogenase | Enzyme | C00002993 | 1 / 2 | 
| O75496 | Geminin | Unclassified protein | C00002993 | 0 / 0 | 
| P10145 | Interleukin-8 | Secreted protein | C00002993 | 0 / 0 | 
| P29323 | Ephrin type-B receptor 2 | Eph | C00002993 | 2 / 0 | 
| Q9Y253 | DNA polymerase eta | Enzyme | C00002993 | 1 / 1 | 
| P09923 | Intestinal-type alkaline phosphatase | Enzyme | C00002993 | 0 / 0 | 
| P49023 | Paxillin | Unclassified protein | C00002993 | 0 / 0 | 
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | Enzyme | C00002993 | 3 / 1 | 
| Q9Y468 | Lethal(3)malignant brain tumor-like protein 1 | Unclassified protein | C00002993 | 0 / 0 | 
| P83916 | Chromobox protein homolog 1 | Unclassified protein | C00002993 | 0 / 0 | 
| O94782 | Ubiquitin carboxyl-terminal hydrolase 1 | Enzyme | C00002993 | 0 / 0 | 
| P04150 | Glucocorticoid receptor | NR3C1 | C00002993 | 0 / 1 | 
| P37231 | Peroxisome proliferator-activated receptor gamma | NR1C3 | C00002993 | 5 / 3 | 
| P04626 | Receptor tyrosine-protein kinase erbB-2 | TK tyrosine-protein kinase EGFR subfamily | C00002993 | 5 / 9 | 
| P12931 | Proto-oncogene tyrosine-protein kinase Src | Src | C00002993 | 0 / 0 | 
| P35968 | Vascular endothelial growth factor receptor 2 | Vegfr | C00002993 | 1 / 0 | 
| Q96RI1 | Bile acid receptor | NR1H4 | C00002993 | 0 / 0 | 
| P08581 | Hepatocyte growth factor receptor | TK tyrosine-protein kinase MET subfamily | C00002993 | 2 / 3 | 
| P28482 | Mitogen-activated protein kinase 1 | Erk | C00002993 | 0 / 0 | 
| P10696 | Alkaline phosphatase, placental-like | Enzyme | C00002993 | 0 / 1 | 
| Q99714 | 3-hydroxyacyl-CoA dehydrogenase type-2 | Enzyme | C00002993 | 3 / 3 | 
| P15428 | 15-hydroxyprostaglandin dehydrogenase [NAD(+)] | Enzyme | C00002993 | 2 / 2 | 
| P51449 | Nuclear receptor ROR-gamma | Nuclear hormone receptor subfamily 1 group F member 3 | C00002993 | 0 / 0 | 
| P11362 | Fibroblast growth factor receptor 1 | Fgfr | C00002993 | 4 / 5 | 
| P16050 | Arachidonate 15-lipoxygenase | Enzyme | C00002993 | 0 / 0 | 
| P08684 | Cytochrome P450 3A4 | Cytochrome P450 3A4 | C00002993 | 0 / 1 | 
| Q9UNA4 | DNA polymerase iota | Enzyme | C00002993 | 0 / 0 | 
| O75164 | Lysine-specific demethylase 4A | Enzyme | C00002993 | 0 / 0 | 
| P27695 | DNA-(apurinic or apyrimidinic site) lyase | Enzyme | C00002993 | 0 / 0 | 
| P10636 | Microtubule-associated protein tau | Unclassified protein | C00002993 | 4 / 3 | 
| Q16236 | Nuclear factor erythroid 2-related factor 2 | Unclassified protein | C00002993 | 0 / 0 | 
| P10275 | Androgen receptor | NR3C4 | C00002993 | 3 / 4 | 
| P10721 | Mast/stem cell growth factor receptor Kit | Pdgfr | C00002993 | 4 / 3 | 
| P34949 | Mannose-6-phosphate isomerase | Enzyme | C00002993 | 1 / 1 | 
| Q9UBT6 | DNA polymerase kappa | Enzyme | C00002993 | 0 / 0 | 
| B2RXH2 | Lysine-specific demethylase 4E | Enzyme | C00002993 | 0 / 0 | 
| P46063 | ATP-dependent DNA helicase Q1 | Enzyme | C00002993 | 0 / 0 | 
| Q96KQ7 | Histone-lysine N-methyltransferase EHMT2 | Enzyme | C00002993 | 0 / 0 | 
| Q9NUW8 | Tyrosyl-DNA phosphodiesterase 1 | Enzyme | C00002993 | 1 / 1 | 
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | Enzyme | C00002993 | 1 / 0 | 
| Q8IUX4 | DNA dC->dU-editing enzyme APOBEC-3F | Enzyme | C00002993 | 0 / 0 | 
| O00255 | Menin | Unclassified protein | C00002993 | 2 / 5 | 
| Q03164 | Histone-lysine N-methyltransferase 2A | Enzyme | C00002993 | 1 / 2 | 
| Q13951 | Core-binding factor subunit beta | Unclassified protein | C00002993 | 0 / 1 | 
| Q01196 | Runt-related transcription factor 1 | Unclassified protein | C00002993 | 1 / 4 | 
| O94925 | Glutaminase kidney isoform, mitochondrial | Enzyme | C00002993 | 0 / 0 | 
| Q14191 | Werner syndrome ATP-dependent helicase | Enzyme | C00002993 | 2 / 1 | 
| OMIM | preferred title | UniProt | 
|---|---|---|
| #300438 | 17-beta-hydroxysteroid dehydrogenase x deficiency | Q99714 | 
| #202300 | Adrenocortical carcinoma, hereditary; adcc | P04637 | 
| #300068 | Androgen insensitivity syndrome; ais | P10275 | 
| #312300 | Androgen insensitivity, partial; pais | P10275 | 
| #300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | P11413 | 
| #207410 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis; abs2 | P21802 | 
| #101200 | Apert syndrome | P21802 | 
| #208900 | Ataxia-telangiectasia; at | Q13315 | 
| #614740 | Basal cell carcinoma, susceptibility to, 7; bcc7 | P04637 | 
| #123790 | Beare-stevenson cutis gyrata syndrome; bstvs | P21802 | 
| #614592 | Bent bone dysplasia syndrome; bbds | P21802 | 
| %606641 | Body mass index; bmi | P37231 | 
| #609338 | Carotid intimal medial thickness 1 | P37231 | 
| #114500 | Colorectal cancer; crc | Q14191 | 
| #602579 | Congenital disorder of glycosylation, type ib; cdg1b | P34949 | 
| #123500 | Crouzon syndrome | P21802 | 
| #119900 | Digital clubbing, isolated congenital | P15428 | 
| #133239 | Esophageal cancer | P04637 | 
| #600274 | Frontotemporal dementia; ftd | P10636 | 
| #613659 | Gastric cancer | P04626 | 
| #137215 | Gastric cancer, hereditary diffuse; hdgc | P04626 | 
| #606764 | Gastrointestinal stromal tumor; gist | P10721 | 
| #608013 | Gaucher disease, perinatal lethal | P04062 | 
| #230800 | Gaucher disease, type i | P04062 | 
| #230900 | Gaucher disease, type ii | P04062 | 
| #231000 | Gaucher disease, type iii | P04062 | 
| #231005 | Gaucher disease, type iiic | P04062 | 
| #137800 | Glioma susceptibility 1; glm1 | O75874 P04626 P37231 | 
| #232300 | Glycogen storage disease ii | P10253 | 
| #605130 | Hairy elbows, short stature, facial dysmorphism, and developmental delay | Q03164 | 
| #602089 | Hemangioma, capillary infantile | P35968 | 
| #114550 | Hepatocellular carcinoma | P08581 | 
| #145000 | Hyperparathyroidism 1; hrpt1 | O00255 | 
| #603373 | Hyperthyroidism, familial gestational | P16473 | 
| #609152 | Hyperthyroidism, nonautoimmune | P16473 | 
| #259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1 | P15428 | 
| #147950 | Hypogonadotropic hypogonadism 2 with or without anosmia; hh2 | P11362 | 
| #146300 | Hypophosphatasia, adult | P05186 | 
| #241510 | Hypophosphatasia, childhood | P05186 | 
| #241500 | Hypophosphatasia, infantile | P05186 | 
| #275200 | Hypothyroidism, congenital, nongoitrous, 1; chng1 | P16473 | 
| #123150 | Jackson-weiss syndrome; jws | P21802 | 
| #149730 | Lacrimoauriculodentodigital syndrome; ladd | P21802 | 
| #601626 | Leukemia, acute myeloid; aml | P10721 | 
| #151623 | Li-fraumeni syndrome 1; lfs1 | P04637 | 
| #604367 | Lipodystrophy, familial partial, type 3; fpld3 | P37231 | 
| #613688 | Long qt syndrome 2; lqt2 | Q12809 | 
| #211980 | Lung cancer | P00533 P04626 P04637 | 
| #300705 | Mental retardation, x-linked 17; mrx17 | Q99714 | 
| #300220 | Mental retardation, x-linked, syndromic 10; mrxs10 | Q99714 | 
| #131100 | Multiple endocrine neoplasia, type i; men1 | O00255 | 
| #607948 | Mycobacterium tuberculosis, susceptibility to | P11473 | 
| #601665 | Obesity | P37231 | 
| #166250 | Osteoglophonic dysplasia; ogd | P11362 | 
| #167000 | Ovarian cancer | P04626 | 
| #260500 | Papilloma of choroid plexus; cpp | P04637 | 
| #168600 | Parkinson disease, late-onset; pd | P04062 | 
| #260540 | Parkinson-dementia syndrome | P10636 | 
| #101600 | Pfeiffer syndrome | P11362 P21802 | 
| #172700 | Pick disease of brain | P10636 | 
| #172800 | Piebald trait; pbt | P10721 | 
| #601399 | Platelet disorder, familial, with associated myeloid malignancy | Q01196 | 
| #176807 | Prostate cancer | P29323 | 
| #603688 | Prostate cancer/brain cancer susceptibility | P29323 | 
| #605074 | Renal cell carcinoma, papillary, 1; rccp1 | P08581 | 
| #609579 | Scaphocephaly, maxillary retrusion, and mental retardation | P21802 | 
| #604906 | Schizophrenia 9; sczd9 | P49798 | 
| #181500 | Schizophrenia; sczd | P49798 | 
| #609620 | Short qt syndrome 1; sqt1 | Q12809 | 
| #313200 | Spinal and bulbar muscular atrophy, x-linked 1; smax1 | P10275 | 
| #253300 | Spinal muscular atrophy, type i; sma1 | Q16637 | 
| #253550 | Spinal muscular atrophy, type ii; sma2 | Q16637 | 
| #253400 | Spinal muscular atrophy, type iii; sma3 | Q16637 | 
| #271150 | Spinal muscular atrophy, type iv; sma4 | Q16637 | 
| #183090 | Spinocerebellar ataxia 2; sca2 | Q99700 | 
| #607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1 | Q9NUW8 | 
| #275355 | Squamous cell carcinoma, head and neck; hnscc | P04637 | 
| #601104 | Supranuclear palsy, progressive, 1; psnp1 | P10636 | 
| #273300 | Testicular germ cell tumor; tgct | P10721 | 
| #190440 | Trigonocephaly 1; trigno1 | P11362 | 
| #277440 | Vitamin d-dependent rickets, type 2a; vddr2a | P11473 | 
| #277700 | Werner syndrome; wrn | Q14191 | 
| #278750 | Xeroderma pigmentosum, variant type; xpv | Q9Y253 | 
| KEGG | name | UniProt | 
|---|---|---|
| H00033 | Adrenal carcinoma | O00255
                            (related) P04637 (related) | 
| H00034 | Carcinoid | O00255
                            (related) | 
| H00045 | Malignant islet cell carcinoma | O00255
                            (related) | 
| H00246 | Primary hyperparathyroidism | O00255
                            (related) | 
| H01102 | Pituitary adenomas | O00255
                            (related) | 
| H00016 | Oral cancer | P00533
                            (related) P00533 (marker) P04637 (related) P04637 (marker) | 
| H00017 | Esophageal cancer | P00533
                            (related) P04637 (related) P04637 (marker) | 
| H00018 | Gastric cancer | P00533
                            (related) P04626 (related) P04637 (related) P08581 (related) P21802 (related) | 
| H00022 | Bladder cancer | P00533
                            (related) P04626 (related) P04637 (related) | 
| H00028 | Choriocarcinoma | P00533
                            (related) P04626 (related) P04637 (related) | 
| H00030 | Cervical cancer | P00533
                            (related) P04626 (related) | 
| H00042 | Glioma | P00533
                            (related) P00533 (marker) P04637 (related) P04637 (marker) | 
| H00055 | Laryngeal cancer | P00533
                            (related) P00533 (marker) P04637 (related) P04637 (marker) | 
| H00066 | Lewy body dementia (LBD) | P04062
                            (related) | 
| H00126 | Gaucher disease | P04062
                            (related) | 
| H00426 | Defects in the degradation of ganglioside | P04062
                            (related) | 
| H00810 | Progressive myoclonic epilepsy (PME) | P04062
                            (related) | 
| H00599 | 46,XX disorders of sex development (Disorders related to androgen excess) | P04150
                            (related) | 
| H00019 | Pancreatic cancer | P04626
                            (related) P04637 (related) P04637 (marker) | 
| H00026 | Endometrial Cancer | P04626
                            (related) P04637 (related) | 
| H00027 | Ovarian cancer | P04626
                            (related) P04637 (related) | 
| H00031 | Breast cancer | P04626
                            (related) P04626 (marker) P04637 (related) | 
| H00046 | Cholangiocarcinoma | P04626
                            (related) P04637 (related) P08581 (related) | 
| H00004 | Chronic myeloid leukemia (CML) | P04637
                            (related) Q01196 (related) | 
| H00005 | Chronic lymphocytic leukemia (CLL) | P04637
                            (related) Q13315 (related) | 
| H00006 | Hairy-cell leukemia | P04637
                            (related) | 
| H00008 | Burkitt lymphoma | P04637
                            (related) | 
| H00009 | Adult T-cell leukemia | P04637
                            (related) | 
| H00010 | Multiple myeloma | P04637
                            (related) | 
| H00013 | Small cell lung cancer | P04637
                            (related) | 
| H00014 | Non-small cell lung cancer | P04637
                            (related) | 
| H00015 | Malignant pleural mesothelioma | P04637
                            (related) | 
| H00020 | Colorectal cancer | P04637
                            (related) P04637 (marker) | 
| H00025 | Penile cancer | P04637
                            (related) P04637 (marker) | 
| H00029 | Vulvar cancer | P04637
                            (related) | 
| H00032 | Thyroid cancer | P04637
                            (related) P37231 (related) | 
| H00036 | Osteosarcoma | P04637
                            (related) P08684 (marker) | 
| H00038 | Malignant melanoma | P04637
                            (related) | 
| H00039 | Basal cell carcinoma | P04637
                            (related) | 
| H00040 | Squamous cell carcinoma | P04637
                            (related) | 
| H00041 | Kaposi's sarcoma | P04637
                            (related) | 
| H00044 | Cancer of the anal canal | P04637
                            (related) | 
| H00047 | Gallbladder cancer | P04637
                            (related) | 
| H00048 | Hepatocellular carcinoma | P04637
                            (related) | 
| H00881 | Li-Fraumeni syndrome | P04637
                            (related) | 
| H01007 | Choroid plexus papilloma | P04637
                            (related) | 
| H00021 | Renal cell carcinoma | P04637
                            (marker) P08581 (related) | 
| H00213 | Hypophosphatasia | P05186
                            (related) | 
| H00069 | Glycogen storage diseases (GSD) | P10253
                            (related) | 
| H00024 | Prostate cancer | P10275
                            (related) | 
| H00062 | Spinal and bulbar muscular atrophy (SBMA) | P10275
                            (related) | 
| H00608 | 46,XY disorders of sex development (Disorders in androgen synthesis or action) | P10275
                            (related) | 
| H00609 | 46,XY disorders of sex development (Other) | P10275
                            (related) | 
| H00058 | Amyotrophic lateral sclerosis (ALS) | P10636
                            (related) | 
| H00077 | Progressive supranuclear palsy (PSP) | P10636
                            (related) | 
| H00078 | Frontotemporal lobar degeneration (FTLD) | P10636
                            (related) | 
| H00023 | Testicular cancer | P10696
                            (marker) P10721 (marker) | 
| H00003 | Acute myeloid leukemia (AML) | P10721
                            (related) P10721 (marker) Q01196 (related) Q01196 (marker) Q13951 (marker) | 
| H00170 | Piebaldism | P10721
                            (related) | 
| H00255 | Hypogonadotropic hypogonadism | P11362
                            (related) | 
| H00443 | Osteoglophonic dysplasia (OD) | P11362
                            (related) | 
| H00458 | Craniosynostosis | P11362
                            (related) P21802 (related) | 
| H00516 | Isolated orofacial clefts | P11362
                            (related) | 
| H01207 | Trigonocephaly | P11362
                            (related) | 
| H00101 | Other phagocyte defects | P11413
                            (related) | 
| H00668 | Anemia due to disorders of glutathione metabolism | P11413
                            (related) | 
| H00342 | Tuberculosis | P11473
                            (related) | 
| H00784 | Localized autosomal recessive hypotrichosis | P11473
                            (related) | 
| H01143 | Vitamin D-dependent rickets | P11473
                            (related) | 
| H00457 | Primary hypertrophic osteoarthropathy (PHO) | P15428
                            (related) | 
| H01246 | Isolated congenital nail clubbing (ICNC) | P15428
                            (related) | 
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) | P16473
                            (related) | 
| H01269 | Congenital hyperthyroidism | P16473
                            (related) | 
| H00642 | Lacrimo-auriculo-dento-digital syndrome (LADD) | P21802
                            (related) | 
| H00118 | Congenital disorders of glycosylation (CDG) type I | P34949
                            (related) | 
| H00409 | Type II diabetes mellitus | P37231
                            (related) | 
| H00420 | Familial partial lipodystrophy (FPL) | P37231
                            (related) | 
| H00001 | Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) | Q01196
                            (related) Q01196 (marker) Q03164 (related) Q03164 (marker) | 
| H00978 | Thrombocytopenia (THC) | Q01196
                            (related) | 
| H00002 | Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) | Q03164
                            (related) | 
| H00720 | Long QT syndrome | Q12809
                            (related) | 
| H00725 | Short QT syndrome | Q12809
                            (related) | 
| H00064 | Ataxia telangiectasia (AT) | Q13315
                            (related) | 
| H00094 | DNA repair defects | Q13315
                            (related) | 
| H00848 | Ataxia with ocular apraxia (AOA) | Q13315
                            (related) | 
| H00296 | Defects in RecQ helicases | Q14191
                            (related) | 
| H00455 | Spinal muscular atrophy (SMA) | Q16637
                            (related) | 
| H00063 | Spinocerebellar ataxia (SCA) | Q99700
                            (related) Q9NUW8 (related) | 
| H00480 | Non-syndromic X-linked mental retardation | Q99714
                            (related) | 
| H00658 | Syndromic X-linked mental retardation | Q99714
                            (related) | 
| H00925 | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency | Q99714
                            (related) | 
| H00403 | Disorders of nucleotide excision repair | Q9Y253
                            (related) |