Sorbus commixta
Species
KNApSAcK Entry
| Organism name | Sorbus commixta |
|---|---|
| Genus | Sorbus |
| Family | Rosaceae |
| Kingdom | Plantae |
NCBI taxonomy
Entry
| Linked NCBI taxonomy name | Sorbus commixta |
|---|---|
| Linked NCBI taxonomy ID | 186521 |
| Linked level | species |
Family
| Family in NCBI taxonomy | Rosaceae |
|---|---|
| ID | 3745 |
Kingdom (Superkingdom)
| Kingdom (Superkingdom) in NCBI taxonomy | Viridiplantae |
|---|---|
| ID | 33090 |
Plant class
| Plant class | rosids |
|---|---|
| ID | 71275 |
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 |
|---|---|---|---|---|---|---|---|---|
C00005373
|
Hirsutrin
/ Isoquercetin / Isoquercetrin / (-)-Isoquercetrin / Quercetin 3-glucoside / Quercetin 3-O-beta-D-glucoside / Quercetin-3-O-beta-D-glucopyranoside / Quercetin 3-O-beta-D-glucopyranoside / (-)-Quercetin-3-O-beta-D-glucopyranoside |
CHEMBL33027
CHEMBL309323 CHEMBL250450 CHEMBL251254 CHEMBL457304 CHEMBL1098724 CHEMBL2337335 CHEMBL2337336 |
38 / 43 / 34 | No. 2 | No. 15 |
|
||
|
C00005374
|
Quercetin
|
CHEMBL82242
CHEMBL479232 CHEMBL1437696 |
C012526
|
14 / 2 / 2 | 2 / 1 | No. 2 | No. 15 |
|
|
C00001454
|
Prunasin
/ (-)-Prunasin / (2R)-Prunasin / (-)-(2R)-Prunasin |
CHEMBL1778417
|
No. 45 | No. 72 |
|
|||
|
C00001437
|
Amygdalin
/ (R)-Amygdalin |
CHEMBL515712
CHEMBL461727 CHEMBL1967951 CHEMBL2007233 |
D000678
|
92 / 37 / 31 | No. 128 | No. 72 |
|
|
|
C00007205
|
(+)-Lyoniresinol
|
CHEMBL455365
CHEMBL1760594 CHEMBL1761710 |
No. 4145 |
|
Human Protein / Gene in interactions
128 ChEMBL Protein in interactions
| accession | description | class description | KNApSAcK metabolite in interactions |
# of diseases
(OMIM / KEGG) |
|---|---|---|---|---|
| O94925 | Glutaminase kidney isoform, mitochondrial | Enzyme | C00005373 C00005374 | 0 / 0 |
| B2RXH2 | Lysine-specific demethylase 4E | Enzyme | C00005373 C00005374 | 0 / 0 |
| Q9UBT6 | DNA polymerase kappa | Enzyme | C00005373 C00005374 | 0 / 0 |
| P27695 | DNA-(apurinic or apyrimidinic site) lyase | Enzyme | C00005373 C00005374 | 0 / 0 |
| Q9UNA4 | DNA polymerase iota | Enzyme | C00005373 C00005374 | 0 / 0 |
| P35372 | Mu-type opioid receptor | Opioid receptor | C00001437 C00005373 | 0 / 0 |
| P28482 | Mitogen-activated protein kinase 1 | Erk | C00001437 C00005373 | 0 / 0 |
| P35354 | Prostaglandin G/H synthase 2 | Oxidoreductase | C00001437 C00005373 | 0 / 3 |
| Q9Y253 | DNA polymerase eta | Enzyme | C00005373 C00005374 | 1 / 1 |
| P15121 | Aldose reductase | Enzyme | C00005373 C00005374 | 0 / 0 |
| P41143 | Delta-type opioid receptor | Opioid receptor | C00001437 C00005373 | 0 / 0 |
| P39748 | Flap endonuclease 1 | Enzyme | C00005373 C00005374 | 0 / 0 |
| P41145 | Kappa-type opioid receptor | Opioid receptor | C00001437 C00005373 | 0 / 0 |
| P07237 | Protein disulfide-isomerase | Enzyme | C00005373 C00005374 | 0 / 0 |
| P18825 | Alpha-2C adrenergic receptor | Adrenergic receptor | C00001437 C00005373 | 0 / 0 |
| P47989 | Xanthine dehydrogenase/oxidase | Oxidoreductase | C00005373 C00005374 | 1 / 1 |
| P03372 | Estrogen receptor | NR3A1 | C00001437 | 1 / 1 |
| P17252 | Protein kinase C alpha type | Alpha | C00001437 | 0 / 0 |
| P27361 | Mitogen-activated protein kinase 3 | Erk | C00001437 | 0 / 0 |
| P14780 | Matrix metalloproteinase-9 | M10A | C00001437 | 2 / 2 |
| P02545 | Prelamin-A/C | Unclassified protein | C00005373 | 11 / 10 |
| P10253 | Lysosomal alpha-glucosidase | Hydrolase | C00005373 | 1 / 1 |
| P00918 | Carbonic anhydrase 2 | Lyase | C00001437 | 1 / 2 |
| P07550 | Beta-2 adrenergic receptor | Adrenergic receptor | C00001437 | 0 / 1 |
| P21397 | Amine oxidase [flavin-containing] A | Oxidoreductase | C00001437 | 1 / 1 |
| P25021 | Histamine H2 receptor | Histamine receptor | C00001437 | 0 / 0 |
| P35367 | Histamine H1 receptor | Histamine receptor | C00001437 | 0 / 0 |
| Q01959 | Sodium-dependent dopamine transporter | Dopamine | C00001437 | 1 / 0 |
| P08912 | Muscarinic acetylcholine receptor M5 | Acetylcholine receptor | C00001437 | 0 / 0 |
| P04062 | Glucosylceramidase | Enzyme | C00005373 | 6 / 4 |
| P13945 | Beta-3 adrenergic receptor | Adrenergic receptor | C00001437 | 0 / 0 |
| P25024 | C-X-C chemokine receptor type 1 | CXC chemokine receptor | C00001437 | 0 / 0 |
| P06241 | Tyrosine-protein kinase Fyn | Src | C00001437 | 0 / 0 |
| Q08209 | Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform | Ser_Thr | C00001437 | 0 / 0 |
| P11712 | Cytochrome P450 2C9 | Cytochrome P450 2C9 | C00001437 | 0 / 1 |
| P49146 | Neuropeptide Y receptor type 2 | Neuropeptide Y receptor | C00001437 | 0 / 0 |
| Q9NR56 | Muscleblind-like protein 1 | Unclassified protein | C00005373 | 1 / 0 |
| P00533 | Epidermal growth factor receptor | TK tyrosine-protein kinase EGFR subfamily | C00001437 | 1 / 8 |
| P14416 | D(2) dopamine receptor | Dopamine receptor | C00001437 | 2 / 0 |
| P23219 | Prostaglandin G/H synthase 1 | Oxidoreductase | C00001437 | 0 / 0 |
| P37288 | Vasopressin V1a receptor | Vasopressin and oxytocin receptor | C00001437 | 0 / 0 |
| P06746 | DNA polymerase beta | Enzyme | C00005373 | 0 / 0 |
| Q9Y271 | Cysteinyl leukotriene receptor 1 | Leukotriene receptor | C00001437 | 0 / 0 |
| P29274 | Adenosine receptor A2a | Adenosine receptor | C00001437 | 0 / 0 |
| P25929 | Neuropeptide Y receptor type 1 | Neuropeptide Y receptor | C00001437 | 0 / 0 |
| P01730 | T-cell surface glycoprotein CD4 | Surface antigen | C00001437 | 1 / 0 |
| P50052 | Type-2 angiotensin II receptor | Angiotensin receptor | C00001437 | 1 / 1 |
| P17948 | Vascular endothelial growth factor receptor 1 | Vegfr | C00001437 | 0 / 0 |
| P41968 | Melanocortin receptor 3 | Melanocortin receptor | C00001437 | 1 / 0 |
| P00352 | Retinal dehydrogenase 1 | Enzyme | C00005374 | 0 / 0 |
| P36888 | Receptor-type tyrosine-protein kinase FLT3 | Pdgfr | C00005373 | 1 / 1 |
| P11509 | Cytochrome P450 2A6 | Cytochrome P450 2A6 | C00001437 | 0 / 0 |
| Q16539 | Mitogen-activated protein kinase 14 | p38 | C00001437 | 0 / 0 |
| O75496 | Geminin | Unclassified protein | C00005373 | 0 / 0 |
| P04035 | 3-hydroxy-3-methylglutaryl-coenzyme A reductase | Oxidoreductase | C00001437 | 0 / 0 |
| P08913 | Alpha-2A adrenergic receptor | Adrenergic receptor | C00001437 | 0 / 0 |
| P21917 | D(4) dopamine receptor | Dopamine receptor | C00001437 | 0 / 0 |
| P30988 | Calcitonin receptor | Calcitonin receptor | C00001437 | 0 / 0 |
| P35462 | D(3) dopamine receptor | Dopamine receptor | C00001437 | 1 / 0 |
| P33765 | Adenosine receptor A3 | Adenosine receptor | C00001437 | 0 / 0 |
| Q92731 | Estrogen receptor beta | NR3A2 | C00001437 | 0 / 1 |
| P41595 | 5-hydroxytryptamine receptor 2B | Serotonin receptor | C00001437 | 0 / 0 |
| P08246 | Neutrophil elastase | S1A | C00001437 | 2 / 1 |
| P25101 | Endothelin-1 receptor | Endothelin receptor | C00001437 | 0 / 0 |
| P30411 | B2 bradykinin receptor | Bradykinin receptor | C00001437 | 0 / 0 |
| P32245 | Melanocortin receptor 4 | Melanocortin receptor | C00001437 | 1 / 0 |
| P32238 | Cholecystokinin receptor type A | Cholecystokinin receptor | C00001437 | 0 / 0 |
| P08311 | Cathepsin G | S1A | C00001437 | 0 / 0 |
| Q99720 | Sigma non-opioid intracellular receptor 1 | Membrane receptor | C00001437 | 1 / 0 |
| P03956 | Interstitial collagenase | M10A | C00001437 | 0 / 1 |
| P32241 | Vasoactive intestinal polypeptide receptor 1 | Vasoactive intestinal peptide receptor | C00001437 | 0 / 0 |
| Q12809 | Potassium voltage-gated channel subfamily H member 2 | KCNH, Kv10-12.x (Ether-a-go-go) | C00001437 | 2 / 2 |
| P09923 | Intestinal-type alkaline phosphatase | Enzyme | C00005373 | 0 / 0 |
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | Enzyme | C00005373 | 3 / 1 |
| Q9Y468 | Lethal(3)malignant brain tumor-like protein 1 | Unclassified protein | C00005374 | 0 / 0 |
| P83916 | Chromobox protein homolog 1 | Unclassified protein | C00001437 | 0 / 0 |
| P04150 | Glucocorticoid receptor | NR3C1 | C00001437 | 0 / 1 |
| P08172 | Muscarinic acetylcholine receptor M2 | Acetylcholine receptor | C00001437 | 2 / 0 |
| P11229 | Muscarinic acetylcholine receptor M1 | Acetylcholine receptor | C00001437 | 0 / 0 |
| P14679 | Tyrosinase | Oxidoreductase | C00005373 | 4 / 2 |
| P21554 | Cannabinoid receptor 1 | Cannabinoid receptor | C00001437 | 0 / 0 |
| P31645 | Sodium-dependent serotonin transporter | Serotonin | C00001437 | 2 / 0 |
| P04626 | Receptor tyrosine-protein kinase erbB-2 | TK tyrosine-protein kinase EGFR subfamily | C00001437 | 5 / 9 |
| P20309 | Muscarinic acetylcholine receptor M3 | Acetylcholine receptor | C00001437 | 1 / 0 |
| P21452 | Substance-K receptor | Neurokinin receptor | C00001437 | 0 / 0 |
| P51679 | C-C chemokine receptor type 4 | CC chemokine receptor | C00001437 | 0 / 0 |
| P51681 | C-C chemokine receptor type 5 | CC chemokine receptor | C00001437 | 3 / 0 |
| P50406 | 5-hydroxytryptamine receptor 6 | Serotonin receptor | C00001437 | 0 / 0 |
| P06280 | Alpha-galactosidase A | Enzyme | C00005373 | 1 / 1 |
| P41597 | C-C chemokine receptor type 2 | CC chemokine receptor | C00001437 | 1 / 0 |
| P27338 | Amine oxidase [flavin-containing] B | Oxidoreductase | C00001437 | 0 / 0 |
| P10696 | Alkaline phosphatase, placental-like | Enzyme | C00005373 | 0 / 1 |
| P08575 | Receptor-type tyrosine-protein phosphatase C | Enzyme | C00001437 | 2 / 1 |
| P05177 | Cytochrome P450 1A2 | Cytochrome P450 1A2 | C00001437 | 0 / 0 |
| Q9UNQ0 | ATP-binding cassette sub-family G member 2 | ATP binding cassette | C00005373 | 2 / 0 |
| O76074 | cGMP-specific 3',5'-cyclic phosphodiesterase | PDE_5A | C00001437 | 0 / 0 |
| P29466 | Caspase-1 | C14 | C00001437 | 0 / 0 |
| P08588 | Beta-1 adrenergic receptor | Adrenergic receptor | C00001437 | 1 / 0 |
| P22303 | Acetylcholinesterase | Hydrolase | C00001437 | 1 / 0 |
| P28223 | 5-hydroxytryptamine receptor 2A | Serotonin receptor | C00001437 | 0 / 0 |
| P28335 | 5-hydroxytryptamine receptor 2C | Serotonin receptor | C00001437 | 0 / 0 |
| P21728 | D(1A) dopamine receptor | Dopamine receptor | C00001437 | 0 / 0 |
| P08173 | Muscarinic acetylcholine receptor M4 | Acetylcholine receptor | C00001437 | 0 / 0 |
| P25103 | Substance-P receptor | Neurokinin receptor | C00001437 | 0 / 0 |
| P25105 | Platelet-activating factor receptor | PAF receptor | C00001437 | 0 / 0 |
| P33032 | Melanocortin receptor 5 | Melanocortin receptor | C00001437 | 0 / 0 |
| P33261 | Cytochrome P450 2C19 | Cytochrome P450 2C19 | C00001437 | 1 / 1 |
| P08684 | Cytochrome P450 3A4 | Cytochrome P450 3A4 | C00001437 | 0 / 1 |
| P05181 | Cytochrome P450 2E1 | Cytochrome P450 2E1 | C00001437 | 0 / 0 |
| Q9UIF8 | Bromodomain adjacent to zinc finger domain protein 2B | Unclassified protein | C00005373 | 0 / 0 |
| O75164 | Lysine-specific demethylase 4A | Enzyme | C00005374 | 0 / 0 |
| Q16637 | Survival motor neuron protein | Unclassified protein | C00005373 | 4 / 1 |
| P10636 | Microtubule-associated protein tau | Unclassified protein | C00005373 | 4 / 3 |
| P08908 | 5-hydroxytryptamine receptor 1A | Serotonin receptor | C00005373 | 1 / 0 |
| P23975 | Sodium-dependent noradrenaline transporter | Norepinephrine | C00001437 | 1 / 1 |
| P25100 | Alpha-1D adrenergic receptor | Adrenergic receptor | C00001437 | 0 / 0 |
| P30542 | Adenosine receptor A1 | Adenosine receptor | C00001437 | 0 / 0 |
| P18089 | Alpha-2B adrenergic receptor | Adrenergic receptor | C00001437 | 0 / 0 |
| P24557 | Thromboxane-A synthase | Cytochrome P450 5A1 | C00001437 | 1 / 1 |
| P06239 | Tyrosine-protein kinase Lck | Src | C00001437 | 0 / 1 |
| P25025 | C-X-C chemokine receptor type 2 | CXC chemokine receptor | C00001437 | 0 / 0 |
| P34949 | Mannose-6-phosphate isomerase | Enzyme | C00005373 | 1 / 1 |
| Q9NPH5 | NADPH oxidase 4 | Enzyme | C00005373 | 0 / 0 |
| Q9P1W9 | Serine/threonine-protein kinase pim-2 | Pim | C00005374 | 0 / 0 |
| Q96KQ7 | Histone-lysine N-methyltransferase EHMT2 | Enzyme | C00005373 | 0 / 0 |
| Q13951 | Core-binding factor subunit beta | Unclassified protein | C00005373 | 0 / 1 |
| Q01196 | Runt-related transcription factor 1 | Unclassified protein | C00005373 | 1 / 4 |
| P10635 | Cytochrome P450 2D6 | Cytochrome P450 2D6 | C00001437 | 1 / 0 |
2 Gene in CTD interactions
| gene | gene name | gene description | KNApSAcK metabolite in interactions |
|---|---|---|---|
| 1543 | CYP1A1, AHH, AHRR, CP11, CYP1, P1-450, P450-C, P450DX | cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) |
C00005374
|
| 1545 | CYP1B1, CP1B, CYPIB1, GLC3A, P4501B1 | cytochrome P450, family 1, subfamily B, polypeptide 1 (EC:1.14.14.1) |
C00005374
|
Related Diseases
Diseases related to proteins in ChEMBL interactions
OMIM (80)
| OMIM | preferred title | UniProt |
|---|---|---|
| #100100 | Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism |
P20309
|
| #103470 | Albinism, ocular, with sensorineural deafness |
P14679
|
| #203100 | Albinism, oculocutaneous, type ia; oca1a |
P14679
|
| #606952 | Albinism, oculocutaneous, type ib; oca1b |
P14679
|
| #103780 | Alcohol dependence |
P08172
P14416 P31645 |
| #614373 | Amyotrophic lateral sclerosis 16, juvenile; als16 |
Q99720
|
| #614490 | Blood group, junior system; jr |
Q9UNQ0
|
| #602025 | Body mass index quantitative trait locus 9; bmiq9 |
P41968
|
| #300615 | Brunner syndrome |
P21397
|
| #115200 | Cardiomyopathy, dilated, 1a; cmd1a |
P02545
|
| #212112 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism |
P02545
|
| #605588 | Charcot-marie-tooth disease, axonal, type 2b1; cmt2b1 |
P02545
|
| #602579 | Congenital disorder of glycosylation, type ib; cdg1b |
P34949
|
| #162800 | Cyclic neutropenia |
P08246
|
| #612522 | Diabetes mellitus, insulin-dependent, 22; iddm22 |
P51681
|
| #609535 | Drug metabolism, poor, cyp2c19-related |
P33261
|
| #608902 | Drug metabolism, poor, cyp2d6-related |
P10635
|
| #181350 | Emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2 |
P02545
|
| #615363 | Estrogen resistance; estrr |
P03372
|
| #301500 | Fabry disease |
P06280
|
| #600274 | Frontotemporal dementia; ftd |
P10636
|
| #613659 | Gastric cancer |
P04626
|
| #137215 | Gastric cancer, hereditary diffuse; hdgc |
P04626
|
| #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
|
| #231095 | Ghosal hematodiaphyseal dysplasia; ghdd |
P24557
|
| #137800 | Glioma susceptibility 1; glm1 |
P04626
|
| #232300 | Glycogen storage disease ii |
P10253
|
| #610140 | Heart-hand syndrome, slovenian type |
P02545
|
| #609423 | Human immunodeficiency virus type 1, susceptibility to |
P41597
P51681 |
| #176670 | Hutchinson-gilford progeria syndrome; hgps |
P02545
|
| #146300 | Hypophosphatasia, adult |
P05186
|
| #241510 | Hypophosphatasia, childhood |
P05186
|
| #241500 | Hypophosphatasia, infantile |
P05186
|
| #603932 | Intervertebral disc disease; idd |
P14780
|
| #601626 | Leukemia, acute myeloid; aml |
P36888
|
| #151660 | Lipodystrophy, familial partial, type 2; fpld2 |
P02545
|
| #613688 | Long qt syndrome 2; lqt2 |
Q12809
|
| #211980 | Lung cancer |
P00533
P04626 |
| #608516 | Major depressive disorder; mdd |
P08172
|
| #248370 | Mandibuloacral dysplasia with type a lipodystrophy; mada |
P02545
|
| %300852 | Mental retardation, x-linked 88; mrx88 |
P50052
|
| #613073 | Metaphyseal anadysplasia 2; mandp2 |
P14780
|
| #126200 | Multiple sclerosis, susceptibility to; ms |
P08575
|
| #613205 | Muscular dystrophy, congenital, lmna-related |
P02545
|
| #159001 | Muscular dystrophy, limb-girdle, type 1b; lgmd1b |
P02545
|
| #159900 | Myoclonic dystonia |
P14416
|
| #160900 | Myotonic dystrophy 1; dm1 |
Q9NR56
|
| #202700 | Neutropenia, severe congenital, 1, autosomal dominant; scn1 |
P08246
|
| #601665 | Obesity |
P32245
|
| #164230 | Obsessive-compulsive disorder; ocd |
P31645
|
| #613949 | Okt4 epitope deficiency |
P01730
|
| #604715 | Orthostatic intolerance |
P23975
|
| #259730 | Osteopetrosis, autosomal recessive 3; optb3 |
P00918
|
| #167000 | Ovarian cancer |
P04626
|
| #168600 | Parkinson disease, late-onset; pd |
P04062
|
| #260540 | Parkinson-dementia syndrome |
P10636
|
| #613135 | Parkinsonism-dystonia, infantile; pkdys |
Q01959
|
| #614674 | Periodic fever, menstrual cycle-dependent |
P08908
|
| #172700 | Pick disease of brain |
P10636
|
| #601399 | Platelet disorder, familial, with associated myeloid malignancy |
Q01196
|
| #607276 | Resting heart rate, variation in |
P08588
|
| #275210 | Restrictive dermopathy, lethal |
P02545
|
| #608971 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive |
P08575
|
| #609620 | Short qt syndrome 1; sqt1 |
Q12809
|
| #601800 | Skin/hair/eye pigmentation, variation in, 3; shep3 |
P14679
|
| #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
|
| #601104 | Supranuclear palsy, progressive, 1; psnp1 |
P10636
|
| #190300 | Tremor, hereditary essential, 1; etm1 |
P35462
|
| #138900 | Uric acid concentration, serum, quantitative trait locus 1; uaqtl1 |
Q9UNQ0
|
| #610379 | West nile virus, susceptibility to |
P51681
|
| #278300 | Xanthinuria, type i |
P47989
|
| #278750 | Xeroderma pigmentosum, variant type; xpv |
Q9Y253
|
| #112100 | Yt blood group antigen |
P22303
|
KEGG DISEASE (62)
| KEGG | name | UniProt |
|---|---|---|
| H00016 | Oral cancer |
P00533
(related)
P00533 (marker) |
| H00017 | Esophageal cancer |
P00533
(related)
P35354 (related) |
| H00018 | Gastric cancer |
P00533
(related)
P04626 (related) |
| H00022 | Bladder cancer |
P00533
(related)
P04626 (related) |
| H00028 | Choriocarcinoma |
P00533
(related)
P03956 (related) P04626 (related) |
| H00030 | Cervical cancer |
P00533
(related)
P04626 (related) |
| H00042 | Glioma |
P00533
(related)
P00533 (marker) |
| H00055 | Laryngeal cancer |
P00533
(related)
P00533 (marker) |
| 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)
|
| 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)
P04626 (related) Q92731 (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)
|
| H00027 | Ovarian cancer |
P04626
(related)
|
| H00031 | Breast cancer |
P04626
(related)
P04626 (marker) |
| H00046 | Cholangiocarcinoma |
P04626
(related)
P35354 (related) |
| H00213 | Hypophosphatasia |
P05186
(related)
|
| H00093 | Combined immunodeficiencies (CIDs) |
P06239
(related)
|
| H00125 | Fabry disease |
P06280
(related)
|
| H00079 | Asthma |
P07550
(related)
|
| H00100 | Neutropenic disorders |
P08246
(related)
|
| H00091 | T-B+Severe combined immunodeficiencies (SCIDs) |
P08575
(related)
|
| H00036 | Osteosarcoma |
P08684
(marker)
|
| H00069 | Glycogen storage diseases (GSD) |
P10253
(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)
|
| H01205 | Coumarin resistance |
P11712
(related)
|
| H00168 | Oculocutaneous albinism (OCA) |
P14679
(related)
|
| H00038 | Malignant melanoma |
P14679
(marker)
|
| H00025 | Penile cancer |
P14780
(related)
P35354 (related) |
| H00479 | Metaphyseal dysplasias |
P14780
(related)
|
| H00548 | Brunner syndrome |
P21397
(related)
|
| H01031 | Orthostatic intolerance (OI) |
P23975
(related)
|
| H00490 | Diaphyseal dysplasia with anemia (Ghosal) |
P24557
(related)
|
| H01171 | Poor drug metabolism (PM) |
P33261
(related)
|
| H00118 | Congenital disorders of glycosylation (CDG) type I |
P34949
(related)
|
| H00003 | Acute myeloid leukemia (AML) |
P36888
(related)
Q01196 (related) Q01196 (marker) Q13951 (marker) |
| H00192 | Xanthinuria |
P47989
(related)
|
| H00480 | Non-syndromic X-linked mental retardation |
P50052
(related)
|
| H00001 | Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) |
Q01196
(related)
Q01196 (marker) |
| H00004 | Chronic myeloid leukemia (CML) |
Q01196
(related)
|
| H00978 | Thrombocytopenia (THC) |
Q01196
(related)
|
| H00720 | Long QT syndrome |
Q12809
(related)
|
| H00725 | Short QT syndrome |
Q12809
(related)
|
| H00455 | Spinal muscular atrophy (SMA) |
Q16637
(related)
|
| H00403 | Disorders of nucleotide excision repair |
Q9Y253
(related)
|