Guaiacum officinale
Species
KNApSAcK Entry
| Organism name | Guaiacum officinale |
|---|---|
| Genus | Guaiacum |
| Family | Zygophyllaceae |
| Kingdom | Plantae |
NCBI taxonomy
Entry
| Linked NCBI taxonomy name | Guaiacum officinale |
|---|---|
| Linked NCBI taxonomy ID | 374122 |
| Linked level | species |
Family
| Family in NCBI taxonomy | Zygophyllaceae |
|---|---|
| ID | 43873 |
Kingdom (Superkingdom)
| Kingdom (Superkingdom) in NCBI taxonomy | Viridiplantae |
|---|---|
| ID | 33090 |
Plant class
| Plant class | rosids |
|---|---|
| ID | 71275 |
Natural Activity
List (9)
| Species | Activity |
|---|---|
| Guaiacum officinale L. | Abortifacient |
| Guaiacum officinale L. | Antiinflammatory |
| Guaiacum officinale L. | Antirheumatic |
| Guaiacum officinale L. | Diaphoretic |
| Guaiacum officinale L. | Diuretic |
| Guaiacum officinale L. | Emmenagogue |
| Guaiacum officinale L. | Fungicide |
| Guaiacum officinale L. | Hypoglycemic |
| Guaiacum officinale L. | Laxative |
Metabolite list (5)
| 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 |
|---|---|---|---|---|---|---|---|---|
C00003138
|
Guaiazulene
|
CHEMBL1408759
|
C004451
|
6 / 11 / 10 | 2 / 0 | No. 647 | No. 38 |
|
|
C00000585
|
Guaiaretic acid
|
No. 1504 |
|
|||||
|
C00003139
|
Guaiol
|
CHEMBL226915
|
No. 1669 | No. 38 |
|
|||
|
C00000693
|
Nordihydroguaiaretic acid
|
CHEMBL52
CHEMBL313972 CHEMBL185893 |
70 / 73 / 92 | No. 1938 | No. 21 |
|
||
|
C00002654
|
Guaiacol
/ o-Guaiacol |
CHEMBL13766
|
D006139
|
15 / 18 / 47 | 3 / 1 | No. 2352 |
|
Human Protein / Gene in interactions
79 ChEMBL Protein in interactions
| accession | description | class description | KNApSAcK metabolite in interactions |
# of diseases
(OMIM / KEGG) |
|---|---|---|---|---|
| Q96KQ7 | Histone-lysine N-methyltransferase EHMT2 | Enzyme | C00000693 C00002654 C00003138 | 0 / 0 |
| Q96QE3 | ATPase family AAA domain-containing protein 5 | Unclassified protein | C00000693 C00002654 | 0 / 0 |
| P10275 | Androgen receptor | NR3C4 | C00000693 C00002654 | 3 / 4 |
| Q16236 | Nuclear factor erythroid 2-related factor 2 | Unclassified protein | C00000693 C00002654 | 0 / 0 |
| O75164 | Lysine-specific demethylase 4A | Enzyme | C00000693 C00003138 | 0 / 0 |
| P04637 | Cellular tumor antigen p53 | Transcription Factor | C00000693 C00002654 | 7 / 37 |
| P09917 | Arachidonate 5-lipoxygenase | Oxidoreductase | C00000693 C00002654 | 0 / 0 |
| O94782 | Ubiquitin carboxyl-terminal hydrolase 1 | Enzyme | C00000693 C00003138 | 0 / 0 |
| P83916 | Chromobox protein homolog 1 | Unclassified protein | C00000693 C00003138 | 0 / 0 |
| O75496 | Geminin | Unclassified protein | C00000693 C00003138 | 0 / 0 |
| P02545 | Prelamin-A/C | Unclassified protein | C00000693 C00003138 | 11 / 10 |
| P27695 | DNA-(apurinic or apyrimidinic site) lyase | Enzyme | C00000693 | 0 / 0 |
| P22894 | Neutrophil collagenase | M10A | C00002654 | 0 / 0 |
| P14780 | Matrix metalloproteinase-9 | M10A | C00002654 | 2 / 2 |
| Q13526 | Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 | Enzyme | C00000693 | 0 / 0 |
| O75604 | Ubiquitin carboxyl-terminal hydrolase 2 | Enzyme | C00000693 | 0 / 0 |
| P08069 | Insulin-like growth factor 1 receptor | TK tyrosine-protein kinase INSR subfamily | C00000693 | 1 / 3 |
| P37840 | Alpha-synuclein | Unclassified protein | C00000693 | 4 / 2 |
| P16473 | Thyrotropin receptor | Glycohormone receptor | C00002654 | 3 / 2 |
| P00918 | Carbonic anhydrase 2 | Lyase | C00002654 | 1 / 2 |
| P11712 | Cytochrome P450 2C9 | Cytochrome P450 2C9 | C00000693 | 0 / 1 |
| P54132 | Bloom syndrome protein | Enzyme | C00000693 | 1 / 2 |
| P11473 | Vitamin D3 receptor | NR1I1 | C00000693 | 2 / 3 |
| P23219 | Prostaglandin G/H synthase 1 | Oxidoreductase | C00000693 | 0 / 0 |
| O15296 | Arachidonate 15-lipoxygenase B | Enzyme | C00000693 | 0 / 0 |
| P00352 | Retinal dehydrogenase 1 | Enzyme | C00000693 | 0 / 0 |
| Q16665 | Hypoxia-inducible factor 1-alpha | Transcription Factor | C00000693 | 0 / 0 |
| P39748 | Flap endonuclease 1 | Enzyme | C00000693 | 0 / 0 |
| Q92830 | Histone acetyltransferase KAT2A | Enzyme | C00000693 | 0 / 0 |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | Enzyme | C00000693 | 1 / 2 |
| P84022 | Mothers against decapentaplegic homolog 3 | Unclassified protein | C00000693 | 2 / 0 |
| Q12809 | Potassium voltage-gated channel subfamily H member 2 | KCNH, Kv10-12.x (Ether-a-go-go) | C00000693 | 2 / 2 |
| P51151 | Ras-related protein Rab-9A | Unclassified protein | C00000693 | 0 / 0 |
| P00915 | Carbonic anhydrase 1 | Lyase | C00002654 | 0 / 0 |
| P03956 | Interstitial collagenase | M10A | C00002654 | 0 / 1 |
| P63092 | Guanine nucleotide-binding protein G(s) subunit alpha isoforms short | Other membrane protein | C00000693 | 7 / 3 |
| Q9Y253 | DNA polymerase eta | Enzyme | C00000693 | 1 / 1 |
| P35354 | Prostaglandin G/H synthase 2 | Oxidoreductase | C00000693 | 0 / 3 |
| P21728 | D(1A) dopamine receptor | Dopamine receptor | C00000693 | 0 / 0 |
| P11511 | Cytochrome P450 19A1 | Cytochrome P450 19A1 | C00000693 | 2 / 2 |
| Q15722 | Leukotriene B4 receptor 1 | Leukotriene receptor | C00000693 | 0 / 0 |
| P06280 | Alpha-galactosidase A | Enzyme | C00000693 | 1 / 1 |
| P18054 | Arachidonate 12-lipoxygenase, 12S-type | Enzyme | C00000693 | 2 / 0 |
| P28482 | Mitogen-activated protein kinase 1 | Erk | C00000693 | 0 / 0 |
| P05177 | Cytochrome P450 1A2 | Cytochrome P450 1A2 | C00000693 | 0 / 0 |
| P08253 | 72 kDa type IV collagenase | M10A | C00002654 | 1 / 3 |
| Q99714 | 3-hydroxyacyl-CoA dehydrogenase type-2 | Enzyme | C00000693 | 3 / 3 |
| P15428 | 15-hydroxyprostaglandin dehydrogenase [NAD(+)] | Enzyme | C00000693 | 2 / 2 |
| Q01453 | Peripheral myelin protein 22 | Unclassified protein | C00000693 | 5 / 2 |
| P51449 | Nuclear receptor ROR-gamma | Nuclear hormone receptor subfamily 1 group F member 3 | C00002654 | 0 / 0 |
| P49798 | Regulator of G-protein signaling 4 | Unclassified protein | C00000693 | 2 / 0 |
| P03372 | Estrogen receptor | NR3A1 | C00000693 | 1 / 1 |
| P19838 | Nuclear factor NF-kappa-B p105 subunit | Transcription Factor | C00000693 | 0 / 0 |
| P16050 | Arachidonate 15-lipoxygenase | Enzyme | C00000693 | 0 / 0 |
| P33261 | Cytochrome P450 2C19 | Cytochrome P450 2C19 | C00000693 | 1 / 1 |
| P08684 | Cytochrome P450 3A4 | Cytochrome P450 3A4 | C00000693 | 0 / 1 |
| Q9UNA4 | DNA polymerase iota | Enzyme | C00000693 | 0 / 0 |
| Q99700 | Ataxin-2 | Unclassified protein | C00000693 | 1 / 1 |
| P06746 | DNA polymerase beta | Enzyme | C00000693 | 0 / 0 |
| P10636 | Microtubule-associated protein tau | Unclassified protein | C00000693 | 4 / 3 |
| Q99549 | M-phase phosphoprotein 8 | Unclassified protein | C00000693 | 0 / 0 |
| P61981 | 14-3-3 protein gamma | Unclassified protein | C00000693 | 0 / 0 |
| P10635 | Cytochrome P450 2D6 | Cytochrome P450 2D6 | C00000693 | 1 / 0 |
| P08254 | Stromelysin-1 | M10A | C00002654 | 1 / 0 |
| Q9UBT6 | DNA polymerase kappa | Enzyme | C00000693 | 0 / 0 |
| B2RXH2 | Lysine-specific demethylase 4E | Enzyme | C00000693 | 0 / 0 |
| P46063 | ATP-dependent DNA helicase Q1 | Enzyme | C00000693 | 0 / 0 |
| P40225 | Thrombopoietin | Unclassified protein | C00000693 | 1 / 1 |
| P42345 | Serine/threonine-protein kinase mTOR | Enzyme | C00000693 | 0 / 0 |
| Q9NUW8 | Tyrosyl-DNA phosphodiesterase 1 | Enzyme | C00000693 | 1 / 1 |
| O00255 | Menin | Unclassified protein | C00000693 | 2 / 5 |
| Q03164 | Histone-lysine N-methyltransferase 2A | Enzyme | C00000693 | 1 / 2 |
| Q13951 | Core-binding factor subunit beta | Unclassified protein | C00000693 | 0 / 1 |
| Q01196 | Runt-related transcription factor 1 | Unclassified protein | C00000693 | 1 / 4 |
| P07900 | Heat shock protein HSP 90-alpha | Other cytosolic protein | C00000693 | 0 / 0 |
| P08238 | Heat shock protein HSP 90-beta | Other cytosolic protein | C00000693 | 0 / 0 |
| O94925 | Glutaminase kidney isoform, mitochondrial | Enzyme | C00000693 | 0 / 0 |
| Q14191 | Werner syndrome ATP-dependent helicase | Enzyme | C00000693 | 2 / 1 |
| Q13148 | TAR DNA-binding protein 43 | Unclassified protein | C00000693 | 1 / 1 |
5 Gene in CTD interactions
| gene | gene name | gene description | KNApSAcK metabolite in interactions |
|---|---|---|---|
| 836 | CASP3, CPP32, CPP32B, SCA-1 | caspase 3, apoptosis-related cysteine peptidase (EC:3.4.22.56) |
C00003138
|
| 1277 | COL1A1, OI4 | collagen, type I, alpha 1 |
C00003138
|
| 213 | ALB, PRO0883, PRO0903, PRO1341 | albumin |
C00002654
|
| 759 | CA1, CA-I, CAB, Car1 | carbonic anhydrase I (EC:4.2.1.1) |
C00002654
|
| 760 | CA2, CA-II, CAC, CAII, Car2 | carbonic anhydrase II (EC:4.2.1.1) |
C00002654
|
Related Diseases
Diseases related to proteins in ChEMBL interactions
OMIM (81)
| 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
|
| #300068 | Androgen insensitivity syndrome; ais |
P10275
|
| #312300 | Androgen insensitivity, partial; pais |
P10275
|
| #300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency |
P11413
|
| #613546 | Aromatase deficiency |
P11511
|
| #139300 | Aromatase excess syndrome; aexs |
P11511
|
| #614740 | Basal cell carcinoma, susceptibility to, 7; bcc7 |
P04637
|
| #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 |
| #614466 | Coronary heart disease, susceptibility to, 6; chds6 |
P08254
|
| #127750 | Dementia, lewy body; dlb |
P37840
|
| #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
|
| #133239 | Esophageal cancer |
P04637
P18054 |
| #615363 | Estrogen resistance; estrr |
P03372
|
| #301500 | Fabry disease |
P06280
|
| #600274 | Frontotemporal dementia; ftd |
P10636
|
| #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
|
| #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
|
| #270450 | Insulin-like growth factor i, resistance to |
P08069
|
| #603932 | Intervertebral disc disease; idd |
P14780
|
| #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
|
| #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
|
| #613073 | Metaphyseal anadysplasia 2; mandp2 |
P14780
|
| #259600 | Multicentric osteolysis, nodulosis, and arthropathy; mona |
P08253
|
| #131100 | Multiple endocrine neoplasia, type i; men1 |
O00255
|
| #613205 | Muscular dystrophy, congenital, lmna-related |
P02545
|
| #159001 | Muscular dystrophy, limb-girdle, type 1b; lgmd1b |
P02545
|
| #607948 | Mycobacterium tuberculosis, susceptibility to |
P11473
|
| #162500 | Neuropathy, hereditary, with liability to pressure palsies; hnpp |
Q01453
|
| #166350 | Osseous heteroplasia, progressive; poh |
P63092
|
| #259730 | Osteopetrosis, autosomal recessive 3; optb3 |
P00918
|
| #260500 | Papilloma of choroid plexus; cpp |
P04637
|
| #168601 | Parkinson disease 1, autosomal dominant; park1 |
P37840
|
| #605543 | Parkinson disease 4, autosomal dominant; park4 |
P37840
|
| #168600 | Parkinson disease, late-onset; pd |
P37840
|
| #260540 | Parkinson-dementia syndrome |
P10636
|
| #172700 | Pick disease of brain |
P10636
|
| #102200 | Pituitary adenoma, growth hormone-secreting |
P63092
|
| #601399 | Platelet disorder, familial, with associated myeloid malignancy |
Q01196
|
| #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
|
| #313200 | Spinal and bulbar muscular atrophy, x-linked 1; smax1 |
P10275
|
| #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
|
| #187950 | Thrombocythemia 1; thcyt1 |
P40225
|
| #277440 | Vitamin d-dependent rickets, type 2a; vddr2a |
P11473
|
| #277700 | Werner syndrome; wrn |
Q14191
|
| #278750 | Xeroderma pigmentosum, variant type; xpv |
Q9Y253
|
KEGG DISEASE (98)
| 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)
|
| H00241 | Combined proximal and distal renal tubular acidosis (RTA type 3) |
P00918
(related)
|
| H00436 | Osteopetrosis |
P00918
(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)
|
| H00026 | Endometrial Cancer |
P03372
(marker)
P04637 (related) |
| H00028 | Choriocarcinoma |
P03956
(related)
P04637 (related) P08253 (related) |
| H00004 | Chronic myeloid leukemia (CML) |
P04637
(related)
Q01196 (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)
P08069 (related) |
| H00016 | Oral cancer |
P04637
(related)
P04637 (marker) |
| H00017 | Esophageal cancer |
P04637
(related)
P04637 (marker) P35354 (related) |
| H00018 | Gastric cancer |
P04637
(related)
|
| H00019 | Pancreatic cancer |
P04637
(related)
P04637 (marker) |
| H00020 | Colorectal cancer |
P04637
(related)
P04637 (marker) |
| H00022 | Bladder cancer |
P04637
(related)
|
| H00025 | Penile cancer |
P04637
(related)
P04637 (marker) P08253 (related) P14780 (related) P35354 (related) |
| H00027 | Ovarian cancer |
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)
P35354 (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)
|
| H00125 | Fabry disease |
P06280
(related)
|
| H00050 | Synovial sarcoma |
P08069
(related)
|
| H01274 | Growth delay due to insulin-like growth factor I resistance |
P08069
(related)
|
| H00472 | Torg-Winchester syndrome |
P08253
(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)
Q13148 (related) |
| H00077 | Progressive supranuclear palsy (PSP) |
P10636
(related)
|
| H00078 | Frontotemporal lobar degeneration (FTLD) |
P10636
(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)
|
| H00599 | 46,XX disorders of sex development (Disorders related to androgen excess) |
P11511
(related)
|
| H00794 | Aromatase excess syndrome |
P11511
(related)
|
| H01205 | Coumarin resistance |
P11712
(related)
|
| H00479 | Metaphyseal dysplasias |
P14780
(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)
|
| H01171 | Poor drug metabolism (PM) |
P33261
(related)
|
| H00057 | Parkinson's disease (PD) |
P37840
(related)
|
| H00066 | Lewy body dementia (LBD) |
P37840
(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)
|
| H00001 | Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) |
Q01196
(related)
Q01196 (marker) Q03164 (related) Q03164 (marker) |
| H00003 | Acute myeloid leukemia (AML) |
Q01196
(related)
Q01196 (marker) Q13951 (marker) |
| H00978 | Thrombocytopenia (THC) |
Q01196
(related)
|
| H01296 | Hereditary neuropathy with liability to pressure palsies (HNPP) |
Q01453
(related)
|
| H00002 | Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) |
Q03164
(related)
|
| H00720 | Long QT syndrome |
Q12809
(related)
|
| H00725 | Short QT syndrome |
Q12809
(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)
|