| Organism name | Ochrosia acuminata | 
|---|---|
| Genus | Ochrosia | 
| Family | Apocynaceae | 
| Kingdom | Plantae | 
| Linked NCBI taxonomy name | Neisosperma acuminatum | 
|---|---|
| Linked NCBI taxonomy ID | 453904 | 
| Linked level | species | 
| Family in NCBI taxonomy | Apocynaceae | 
|---|---|
| ID | 4056 | 
| Kingdom (Superkingdom) in NCBI taxonomy | Viridiplantae | 
|---|---|
| ID | 33090 | 
| Plant class | asterids | 
|---|---|
| ID | 71274 | 
| 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 | 
|---|---|---|---|---|---|---|---|---|
| C00025183   | Isoreserpiline / Neoreserpiline | CHEMBL1622689 | No. 246 | No. 4 |   | |||
| C00025207   | Reserpilin / Elliptamine / Reserpiline / (-)-Reserpiline | CHEMBL1622689 | No. 246 | No. 4 |   | |||
| C00040643   | Voachalotine | CHEMBL1368524 | 3 / 7 / 3 | No. 260 | No. 4 |   | ||
| C00026662   | Polyneuridine-N-oxide | No. 260 | No. 4 |   | ||||
| C00024281   | Quebrachidine / (+)-Quebrachidine | C010318 | No. 507 |   | ||||
| C00032210   | Strictosamide | CHEMBL480522 | No. 577 | No. 4 |   | |||
| C00038341   | 9-Methoxyellipticine | CHEMBL19954 | C001729 | 40 / 24 / 22 | No. 1510 | No. 4 |   | |
| C00001716   | Ellipticine | CHEMBL123 | C034192 | 68 / 71 / 85 | 27 / 4 | No. 1510 | No. 4 |   | 
| accession | description | class description | KNApSAcK metabolite in interactions | # of diseases (OMIM / KEGG) | 
|---|---|---|---|---|
| Q96KQ7 | Histone-lysine N-methyltransferase EHMT2 | Enzyme | C00001716 C00038341 C00040643 | 0 / 0 | 
| B2RXH2 | Lysine-specific demethylase 4E | Enzyme | C00001716 C00038341 C00040643 | 0 / 0 | 
| P27695 | DNA-(apurinic or apyrimidinic site) lyase | Enzyme | C00001716 C00038341 | 0 / 0 | 
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | Enzyme | C00001716 C00038341 | 1 / 0 | 
| Q9UIF8 | Bromodomain adjacent to zinc finger domain protein 2B | Unclassified protein | C00001716 C00038341 | 0 / 0 | 
| P46063 | ATP-dependent DNA helicase Q1 | Enzyme | C00001716 C00038341 | 0 / 0 | 
| O00255 | Menin | Unclassified protein | C00001716 C00038341 | 2 / 5 | 
| Q99700 | Ataxin-2 | Unclassified protein | C00001716 C00038341 | 1 / 1 | 
| Q9UBT6 | DNA polymerase kappa | Enzyme | C00001716 C00038341 | 0 / 0 | 
| P10721 | Mast/stem cell growth factor receptor Kit | Pdgfr | C00001716 C00038341 | 4 / 3 | 
| Q16236 | Nuclear factor erythroid 2-related factor 2 | Unclassified protein | C00001716 C00038341 | 0 / 0 | 
| P10636 | Microtubule-associated protein tau | Unclassified protein | C00001716 C00038341 | 4 / 3 | 
| P06746 | DNA polymerase beta | Enzyme | C00001716 C00038341 | 0 / 0 | 
| Q8IUX4 | DNA dC->dU-editing enzyme APOBEC-3F | Enzyme | C00001716 C00038341 | 0 / 0 | 
| Q6W5P4 | Neuropeptide S receptor | Neuropeptide receptor | C00001716 C00038341 | 1 / 0 | 
| Q9UNA4 | DNA polymerase iota | Enzyme | C00001716 C00038341 | 0 / 0 | 
| Q96QE3 | ATPase family AAA domain-containing protein 5 | Unclassified protein | C00001716 C00038341 | 0 / 0 | 
| P04150 | Glucocorticoid receptor | NR3C1 | C00001716 C00038341 | 0 / 1 | 
| P11021 | 78 kDa glucose-regulated protein | Unclassified protein | C00001716 C00038341 | 0 / 0 | 
| Q03164 | Histone-lysine N-methyltransferase 2A | Enzyme | C00001716 C00038341 | 1 / 2 | 
| Q9NR56 | Muscleblind-like protein 1 | Unclassified protein | C00001716 C00038341 | 1 / 0 | 
| Q9Y253 | DNA polymerase eta | Enzyme | C00001716 C00038341 | 1 / 1 | 
| P51151 | Ras-related protein Rab-9A | Unclassified protein | C00001716 C00038341 | 0 / 0 | 
| O75496 | Geminin | Unclassified protein | C00001716 C00038341 | 0 / 0 | 
| P84022 | Mothers against decapentaplegic homolog 3 | Unclassified protein | C00001716 C00038341 | 2 / 0 | 
| P39748 | Flap endonuclease 1 | Enzyme | C00001716 C00038341 | 0 / 0 | 
| Q99549 | M-phase phosphoprotein 8 | Unclassified protein | C00001716 | 0 / 0 | 
| P17405 | Sphingomyelin phosphodiesterase | Enzyme | C00001716 | 2 / 2 | 
| Q16665 | Hypoxia-inducible factor 1-alpha | Transcription Factor | C00001716 | 0 / 0 | 
| P00352 | Retinal dehydrogenase 1 | Enzyme | C00001716 | 0 / 0 | 
| O15296 | Arachidonate 15-lipoxygenase B | Enzyme | C00001716 | 0 / 0 | 
| P11388 | DNA topoisomerase 2-alpha | Isomerase | C00001716 | 0 / 0 | 
| P11387 | DNA topoisomerase 1 | Isomerase | C00001716 | 0 / 0 | 
| P32245 | Melanocortin receptor 4 | Melanocortin receptor | C00038341 | 1 / 0 | 
| P43220 | Glucagon-like peptide 1 receptor | Glucagon-like peptide receptor | C00038341 | 0 / 0 | 
| P63092 | Guanine nucleotide-binding protein G(s) subunit alpha isoforms short | Other membrane protein | C00040643 | 7 / 3 | 
| O95180 | Voltage-dependent T-type calcium channel subunit alpha-1H | CACN alpha-2 delta | C00001716 | 1 / 0 | 
| P42226 | Signal transducer and activator of transcription 6 | Unclassified protein | C00001716 | 0 / 0 | 
| P11308 | Transcriptional regulator ERG | Unclassified protein | C00038341 | 1 / 2 | 
| P54132 | Bloom syndrome protein | Enzyme | C00001716 | 1 / 2 | 
| P83916 | Chromobox protein homolog 1 | Unclassified protein | C00001716 | 0 / 0 | 
| Q9HC16 | DNA dC->dU-editing enzyme APOBEC-3G | Enzyme | C00001716 | 0 / 0 | 
| P11712 | Cytochrome P450 2C9 | Cytochrome P450 2C9 | C00001716 | 0 / 1 | 
| O94782 | Ubiquitin carboxyl-terminal hydrolase 1 | Enzyme | C00001716 | 0 / 0 | 
| P16473 | Thyrotropin receptor | Glycohormone receptor | C00001716 | 3 / 2 | 
| P18054 | Arachidonate 12-lipoxygenase, 12S-type | Enzyme | C00001716 | 2 / 0 | 
| P28482 | Mitogen-activated protein kinase 1 | Erk | C00001716 | 0 / 0 | 
| P05177 | Cytochrome P450 1A2 | Cytochrome P450 1A2 | C00001716 | 0 / 0 | 
| Q99714 | 3-hydroxyacyl-CoA dehydrogenase type-2 | Enzyme | C00001716 | 3 / 3 | 
| P15428 | 15-hydroxyprostaglandin dehydrogenase [NAD(+)] | Enzyme | C00001716 | 2 / 2 | 
| O15118 | Niemann-Pick C1 protein | Unclassified protein | C00001716 | 1 / 1 | 
| Q01453 | Peripheral myelin protein 22 | Unclassified protein | C00001716 | 5 / 2 | 
| P02545 | Prelamin-A/C | Unclassified protein | C00001716 | 11 / 10 | 
| P19838 | Nuclear factor NF-kappa-B p105 subunit | Transcription Factor | C00001716 | 0 / 0 | 
| P55210 | Caspase-7 | C14 | C00001716 | 0 / 0 | 
| P33261 | Cytochrome P450 2C19 | Cytochrome P450 2C19 | C00001716 | 1 / 1 | 
| P08684 | Cytochrome P450 3A4 | Cytochrome P450 3A4 | C00001716 | 0 / 1 | 
| P26599 | Polypyrimidine tract-binding protein 1 | Unclassified protein | C00001716 | 0 / 0 | 
| P29466 | Caspase-1 | C14 | C00001716 | 0 / 0 | 
| P10253 | Lysosomal alpha-glucosidase | Hydrolase | C00001716 | 1 / 1 | 
| Q12809 | Potassium voltage-gated channel subfamily H member 2 | KCNH, Kv10-12.x (Ether-a-go-go) | C00001716 | 2 / 2 | 
| P68871 | Hemoglobin subunit beta | Secreted protein | C00001716 | 4 / 4 | 
| P21728 | D(1A) dopamine receptor | Dopamine receptor | C00001716 | 0 / 0 | 
| P14618 | Pyruvate kinase PKM | Enzyme | C00038341 | 0 / 0 | 
| P06239 | Tyrosine-protein kinase Lck | Src | C00001716 | 0 / 1 | 
| O43603 | Galanin receptor type 2 | Galanin receptor | C00001716 | 0 / 0 | 
| P49798 | Regulator of G-protein signaling 4 | Unclassified protein | C00001716 | 2 / 0 | 
| P10635 | Cytochrome P450 2D6 | Cytochrome P450 2D6 | C00001716 | 1 / 0 | 
| P17861 | X-box-binding protein 1 | Unclassified protein | C00038341 | 1 / 0 | 
| P40225 | Thrombopoietin | Unclassified protein | C00001716 | 1 / 1 | 
| Q16637 | Survival motor neuron protein | Unclassified protein | C00001716 | 4 / 1 | 
| Q9NUW8 | Tyrosyl-DNA phosphodiesterase 1 | Enzyme | C00001716 | 1 / 1 | 
| Q07820 | Induced myeloid leukemia cell differentiation protein Mcl-1 | Other cytosolic protein | C00038341 | 0 / 0 | 
| P04637 | Cellular tumor antigen p53 | Transcription Factor | C00001716 | 7 / 37 | 
| P42345 | Serine/threonine-protein kinase mTOR | Enzyme | C00001716 | 0 / 0 | 
| P35372 | Mu-type opioid receptor | Opioid receptor | C00038341 | 0 / 0 | 
| P41143 | Delta-type opioid receptor | Opioid receptor | C00038341 | 0 / 0 | 
| P01215 | Glycoprotein hormones alpha chain | Unclassified protein | C00038341 | 0 / 3 | 
| Q9H0H5 | Rac GTPase-activating protein 1 | Unclassified protein | C00038341 | 0 / 0 | 
| Q14191 | Werner syndrome ATP-dependent helicase | Enzyme | C00038341 | 2 / 1 | 
| P43351 | DNA repair protein RAD52 homolog | Unclassified protein | C00038341 | 0 / 0 | 
| P51531 | Probable global transcription activator SNF2L2 | Unclassified protein | C00038341 | 1 / 0 | 
| Q13148 | TAR DNA-binding protein 43 | Unclassified protein | C00038341 | 1 / 1 | 
| gene | gene name | gene description | KNApSAcK metabolite in interactions | 
|---|---|---|---|
| 581 | BAX, BCL2L4 | BCL2-associated X protein | C00001716 | 
| 596 | BCL2, Bcl-2, PPP1R50 | B-cell CLL/lymphoma 2 | C00001716 | 
| 637 | BID, FP497 | BH3 interacting domain death agonist | C00001716 | 
| 836 | CASP3, CPP32, CPP32B, SCA-1 | caspase 3, apoptosis-related cysteine peptidase (EC:3.4.22.56) | C00001716 | 
| 840 | CASP7, CASP-7, CMH-1, ICE-LAP3, LICE2, MCH3 | caspase 7, apoptosis-related cysteine peptidase (EC:3.4.22.60) | C00001716 | 
| 841 | CASP8, ALPS2B, CAP4, Casp-8, FLICE, MACH, MCH5 | caspase 8, apoptosis-related cysteine peptidase (EC:3.4.22.61) | C00001716 | 
| 842 | CASP9, APAF-3, APAF3, ICE-LAP6, MCH6, PPP1R56 | caspase 9, apoptosis-related cysteine peptidase (EC:3.4.22.62) | C00001716 | 
| 891 | CCNB1, CCNB | cyclin B1 | C00001716 | 
| 595 | CCND1, BCL1, D11S287E, PRAD1, U21B31 | cyclin D1 | C00001716 | 
| 995 | CDC25C, CDC25, PPP1R60 | cell division cycle 25C (EC:3.1.3.48) | C00001716 | 
| 983 | CDK1, CDC2, CDC28A, P34CDC2 | cyclin-dependent kinase 1 (EC:2.7.11.23 2.7.11.22) | C00001716 | 
| 1027 | CDKN1B, CDKN4, KIP1, MEN1B, MEN4, P27KIP1 | cyclin-dependent kinase inhibitor 1B (p27, Kip1) | C00001716 | 
| 1543 | CYP1A1, AHH, AHRR, CP11, CYP1, P1-450, P450-C, P450DX | cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) | C00001716 | 
| 1544 | CYP1A2, CP12, P3-450, P450(PA) | cytochrome P450, family 1, subfamily A, polypeptide 2 (EC:1.14.14.1) | C00001716 | 
| 1545 | CYP1B1, CP1B, CYPIB1, GLC3A, P4501B1 | cytochrome P450, family 1, subfamily B, polypeptide 1 (EC:1.14.14.1) | C00001716 | 
| 1557 | CYP2C19, CPCJ, CYP2C, P450C2C, P450IIC19 | cytochrome P450, family 2, subfamily C, polypeptide 19 (EC:1.14.13.48 1.14.13.49 1.14.13.80) | C00001716 | 
| 1559 | CYP2C9, CPC9, CYP2C, CYP2C10, CYPIIC9, P450IIC9 | cytochrome P450, family 2, subfamily C, polypeptide 9 (EC:1.14.13.48 1.14.13.49 1.14.13.80) | C00001716 | 
| 1565 | CYP2D6, CPD6, CYP2D, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, CYP2DL1, CYPIID6, P450-DB1, P450C2D, P450DB1 | cytochrome P450, family 2, subfamily D, polypeptide 6 (EC:1.14.14.1) | C00001716 | 
| 1571 | CYP2E1, CPE1, CYP2E, P450-J, P450C2E | cytochrome P450, family 2, subfamily E, polypeptide 1 (EC:1.14.13.n7) | C00001716 | 
| 1576 | CYP3A4, CP33, CP34, CYP3A, CYP3A3, CYPIIIA3, CYPIIIA4, HLP, NF-25, P450C3, P450PCN1 | cytochrome P450, family 3, subfamily A, polypeptide 4 (EC:1.14.13.67 1.14.13.97 1.14.13.32 1.14.13.157) | C00001716 | 
| 5594 | MAPK1, ERK, ERK2, ERT1, MAPK2, P42MAPK, PRKM1, PRKM2, p38, p40, p41, p41mapk | mitogen-activated protein kinase 1 (EC:2.7.11.24) | C00001716 | 
| 5595 | MAPK3, ERK-1, ERK1, ERT2, HS44KDAP, HUMKER1A, P44ERK1, P44MAPK, PRKM3, p44-ERK1, p44-MAPK | mitogen-activated protein kinase 3 (EC:2.7.11.24) | C00001716 | 
| 4193 | MDM2, ACTFS, HDMX, hdm2 | MDM2 oncogene, E3 ubiquitin protein ligase | C00001716 | 
| 142 | PARP1, ADPRT, ADPRT_1, ADPRT1, ARTD1, PARP, PARP-1, PPOL, pADPRT-1 | poly (ADP-ribose) polymerase 1 (EC:2.4.2.30) | C00001716 | 
| 5447 | POR, CPR, CYPOR, P450R | P450 (cytochrome) oxidoreductase (EC:1.6.2.4) | C00001716 | 
| 7155 | TOP2B, TOPIIB, top2beta | topoisomerase (DNA) II beta 180kDa (EC:5.99.1.3) | C00001716 | 
| 331 | XIAP, API3, BIRC4, IAP-3, ILP1, MIHA, XLP2, hIAP-3, hIAP3 | X-linked inhibitor of apoptosis | C00001716 | 
| OMIM | preferred title | UniProt | 
|---|---|---|
| #300438 | 17-beta-hydroxysteroid dehydrogenase x deficiency | Q99714 | 
| #219080 | Acth-independent macronodular adrenal hyperplasia; aimah | P63092 | 
| #202300 | Adrenocortical carcinoma, hereditary; adcc | P04637 | 
| #612069 | Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia; als10 | Q13148 | 
| #608584 | Asthma-related traits, susceptibility to, 2 | Q6W5P4 | 
| #614740 | Basal cell carcinoma, susceptibility to, 7; bcc7 | P04637 | 
| #613985 | Beta-thalassemia | P68871 | 
| #603902 | Beta-thalassemia, dominant inclusion body type | P68871 | 
| #210900 | Bloom syndrome; blm | P54132 | 
| #115200 | Cardiomyopathy, dilated, 1a; cmd1a | P02545 | 
| #212112 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | P02545 | 
| #118300 | Charcot-marie-tooth disease and deafness | Q01453 | 
| #605588 | Charcot-marie-tooth disease, axonal, type 2b1; cmt2b1 | P02545 | 
| #118220 | Charcot-marie-tooth disease, demyelinating, type 1a; cmt1a | Q01453 | 
| #114500 | Colorectal cancer; crc | P18054 P84022 Q14191 | 
| #119900 | Digital clubbing, isolated congenital | P15428 | 
| #609535 | Drug metabolism, poor, cyp2c19-related | P33261 | 
| #608902 | Drug metabolism, poor, cyp2d6-related | P10635 | 
| #181350 | Emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2 | P02545 | 
| #611942 | Epilepsy, childhood absence, susceptibility to, 6; eca6 | O95180 | 
| #133239 | Esophageal cancer | P04637 P18054 | 
| #612219 | Ewing sarcoma; es | P11308 | 
| #600274 | Frontotemporal dementia; ftd | P10636 | 
| #606764 | Gastrointestinal stromal tumor; gist | P10721 | 
| #137800 | Glioma susceptibility 1; glm1 | O75874 | 
| #232300 | Glycogen storage disease ii | P10253 | 
| #139393 | Guillain-barre syndrome, familial; gbs | Q01453 | 
| #605130 | Hairy elbows, short stature, facial dysmorphism, and developmental delay | Q03164 | 
| #610140 | Heart-hand syndrome, slovenian type | P02545 | 
| #140700 | Heinz body anemias | P68871 | 
| #176670 | Hutchinson-gilford progeria syndrome; hgps | P02545 | 
| #145000 | Hyperparathyroidism 1; hrpt1 | O00255 | 
| #603373 | Hyperthyroidism, familial gestational | P16473 | 
| #609152 | Hyperthyroidism, nonautoimmune | P16473 | 
| #145900 | Hypertrophic neuropathy of dejerine-sottas | Q01453 | 
| #259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1 | P15428 | 
| #275200 | Hypothyroidism, congenital, nongoitrous, 1; chng1 | P16473 | 
| #601626 | Leukemia, acute myeloid; aml | P10721 | 
| #151623 | Li-fraumeni syndrome 1; lfs1 | P04637 | 
| #151660 | Lipodystrophy, familial partial, type 2; fpld2 | P02545 | 
| #613795 | Loeys-dietz syndrome, type 3; lds3 | P84022 | 
| #613688 | Long qt syndrome 2; lqt2 | Q12809 | 
| #211980 | Lung cancer | P04637 | 
| #612371 | Major affective disorder 7; mafd7 | P17861 | 
| #248370 | Mandibuloacral dysplasia with type a lipodystrophy; mada | P02545 | 
| #174800 | Mccune-albright syndrome; mas | P63092 | 
| #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 | 
| #613205 | Muscular dystrophy, congenital, lmna-related | P02545 | 
| #159001 | Muscular dystrophy, limb-girdle, type 1b; lgmd1b | P02545 | 
| #160900 | Myotonic dystrophy 1; dm1 | Q9NR56 | 
| #162500 | Neuropathy, hereditary, with liability to pressure palsies; hnpp | Q01453 | 
| #601358 | Nicolaides-baraitser syndrome; ncbrs | P51531 | 
| #257200 | Niemann-pick disease, type a | P17405 | 
| #607616 | Niemann-pick disease, type b | P17405 | 
| #257220 | Niemann-pick disease, type c1; npc1 | O15118 | 
| #601665 | Obesity | P32245 | 
| #166350 | Osseous heteroplasia, progressive; poh | P63092 | 
| #260500 | Papilloma of choroid plexus; cpp | P04637 | 
| #260540 | Parkinson-dementia syndrome | P10636 | 
| #172700 | Pick disease of brain | P10636 | 
| #172800 | Piebald trait; pbt | P10721 | 
| #102200 | Pituitary adenoma, growth hormone-secreting | P63092 | 
| #103580 | Pseudohypoparathyroidism, type ia; php1a | P63092 | 
| #603233 | Pseudohypoparathyroidism, type ib; php1b | P63092 | 
| #612462 | Pseudohypoparathyroidism, type ic; php1c | P63092 | 
| #275210 | Restrictive dermopathy, lethal | P02545 | 
| #604906 | Schizophrenia 9; sczd9 | P49798 | 
| #181500 | Schizophrenia; sczd | P49798 | 
| #609620 | Short qt syndrome 1; sqt1 | Q12809 | 
| #603903 | Sickle cell anemia | P68871 | 
| #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 | 
| #187950 | Thrombocythemia 1; thcyt1 | P40225 | 
| #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) | 
| H00136 | Niemann-Pick disease type C (NPC) | O15118
                            (related) | 
| H00081 | Hashimoto's thyroiditis | P01215
                            (marker) | 
| H00082 | Graves' disease | P01215
                            (marker) | 
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) | P01215
                            (marker) P16473 (related) | 
| H00264 | Charcot-Marie-Tooth disease (CMT) | P02545
                            (related) Q01453 (related) | 
| H00294 | Dilated cardiomyopathy (DCM) | P02545
                            (related) | 
| H00420 | Familial partial lipodystrophy (FPL) | P02545
                            (related) | 
| H00563 | Emery-Dreifuss muscular dystrophy | P02545
                            (related) | 
| H00590 | Congenital muscular dystrophies (CMD/MDC) | P02545
                            (related) | 
| H00593 | Limb-girdle muscular dystrophy (LGMD) | P02545
                            (related) | 
| H00601 | Hutchinson-Gilford progeria syndrome | P02545
                            (related) | 
| H00663 | Restrictive dermopathy | P02545
                            (related) | 
| H00665 | Mandibuloacral dysplasia | P02545
                            (related) | 
| H01216 | Left ventricular noncompaction (LVNC) | P02545
                            (related) | 
| H00599 | 46,XX disorders of sex development (Disorders related to androgen excess) | P04150
                            (related) | 
| H00004 | Chronic myeloid leukemia (CML) | P04637
                            (related) | 
| H00005 | Chronic lymphocytic leukemia (CLL) | P04637
                            (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) | 
| H00016 | Oral cancer | P04637
                            (related) P04637 (marker) | 
| H00017 | Esophageal cancer | P04637
                            (related) P04637 (marker) | 
| H00018 | Gastric cancer | P04637
                            (related) | 
| H00019 | Pancreatic cancer | P04637
                            (related) P04637 (marker) | 
| H00020 | Colorectal cancer | P04637
                            (related) P04637 (marker) P68871 (marker) | 
| H00022 | Bladder cancer | P04637
                            (related) P68871 (marker) | 
| H00025 | Penile cancer | P04637
                            (related) P04637 (marker) | 
| H00026 | Endometrial Cancer | P04637
                            (related) | 
| H00027 | Ovarian cancer | P04637
                            (related) | 
| H00028 | Choriocarcinoma | P04637
                            (related) | 
| H00029 | Vulvar cancer | P04637
                            (related) | 
| H00031 | Breast cancer | P04637
                            (related) | 
| H00032 | Thyroid cancer | P04637
                            (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) | 
| H00042 | Glioma | P04637
                            (related) P04637 (marker) | 
| H00044 | Cancer of the anal canal | P04637
                            (related) | 
| H00046 | Cholangiocarcinoma | P04637
                            (related) | 
| H00047 | Gallbladder cancer | P04637
                            (related) | 
| H00048 | Hepatocellular carcinoma | P04637
                            (related) | 
| H00055 | Laryngeal cancer | P04637
                            (related) P04637 (marker) | 
| H00881 | Li-Fraumeni syndrome | P04637
                            (related) | 
| H01007 | Choroid plexus papilloma | P04637
                            (related) | 
| H00021 | Renal cell carcinoma | P04637
                            (marker) | 
| H00093 | Combined immunodeficiencies (CIDs) | P06239
                            (related) | 
| H00069 | Glycogen storage diseases (GSD) | P10253
                            (related) | 
| H00058 | Amyotrophic lateral sclerosis (ALS) | P10636
                            (related) Q13148 (related) | 
| H00077 | Progressive supranuclear palsy (PSP) | P10636
                            (related) | 
| H00078 | Frontotemporal lobar degeneration (FTLD) | P10636
                            (related) | 
| H00003 | Acute myeloid leukemia (AML) | P10721
                            (related) P10721 (marker) | 
| H00170 | Piebaldism | P10721
                            (related) | 
| H00023 | Testicular cancer | P10721
                            (marker) | 
| H00024 | Prostate cancer | P11308
                            (related) | 
| H00035 | Ewing's sarcoma | P11308
                            (related) | 
| H01205 | Coumarin resistance | P11712
                            (related) | 
| H00457 | Primary hypertrophic osteoarthropathy (PHO) | P15428
                            (related) | 
| H01246 | Isolated congenital nail clubbing (ICNC) | P15428
                            (related) | 
| H01269 | Congenital hyperthyroidism | P16473
                            (related) | 
| H00137 | Niemann-Pick disease (NPD) typeA and B | P17405
                            (related) | 
| H00424 | Defects in the degradation of sphingomyelin | P17405
                            (related) | 
| H01171 | Poor drug metabolism (PM) | P33261
                            (related) | 
| H00227 | Congenital amegakaryocytic thrombocytopenia (CAMT) | P40225
                            (marker) | 
| H00094 | DNA repair defects | P54132
                            (related) | 
| H00296 | Defects in RecQ helicases | P54132
                            (related) Q14191 (related) | 
| H00244 | Pseudohypoparathyroidism | P63092
                            (related) | 
| H00441 | Progressive osseous heteroplasia (POH) | P63092
                            (related) | 
| H00501 | Fibrous dysplasia, polyostotic | P63092
                            (related) | 
| H00228 | Thalassemia | P68871
                            (related) | 
| H00229 | Sickle cell anemia (SCA) | P68871
                            (related) | 
| H01296 | Hereditary neuropathy with liability to pressure palsies (HNPP) | Q01453
                            (related) | 
| H00001 | Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) | Q03164
                            (related) Q03164 (marker) | 
| H00002 | Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) | Q03164
                            (related) | 
| H00720 | Long QT syndrome | Q12809
                            (related) | 
| H00725 | Short QT syndrome | Q12809
                            (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) |