| Organism name | Camellia sinensis (L.) O.KUNTZE |
|---|---|
| Genus | Camellia |
| Family | Theaceae |
| Kingdom | Plantae |
| Linked NCBI taxonomy name | Camellia |
|---|---|
| Linked NCBI taxonomy ID | 4441 |
| Linked level | genus |
| Family in NCBI taxonomy | Theaceae |
|---|---|
| ID | 27065 |
| 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 |
|---|---|---|---|---|---|---|---|---|
|
C00006381
|
Isoshaftoside
/ Isoschaftoside / Apigenin 6-C-alpha-L-arabinopyranoside-8-C-beta-D-glucopyranoside |
No. 1 | No. 15 |
|
||||
|
C00005137
|
Trifolin
/ Kaempferol 3-O-beta-D-galactopyranoside |
CHEMBL233930
CHEMBL453290 CHEMBL1572115 |
C066407
|
10 / 6 / 7 | 1 / 1 | No. 2 | No. 15 |
|
|
C00032326
|
Theasaponin B1
|
No. 4 | No. 51 |
|
||||
|
C00030269
|
Floratheasaponin A
|
CHEMBL1835848
|
No. 4 | No. 51 |
|
|||
|
C00001059
|
Isovitexin
/ Saponaretin / Homovitexin / 6-C-beta-D-Glucopyranosylapigenin / 6-beta-D-Glucopyranosyl-4',5,7-trihydroxyflavone / 6-beta-D-Glucopyranosyl-5,7-dihydroxy-2-(4-hydroxyphenyl)-4H-1-benzopyran-4-one |
CHEMBL465360
CHEMBL1601394 |
C049772
|
28 / 20 / 19 | No. 22 | No. 15 |
|
|
|
C00001110
|
Vitexin
/ Apigenin 8-C-glucoside / 8-D-Glucosyl-4',5,7-trihydroxyflavone / 8-beta-D-Glucopyranosyl-5,7-dihydroxy-2-(4-hydroxyphenyl)-4H-1-benzopyran-4-one |
CHEMBL487417
CHEMBL1332209 CHEMBL1357921 |
16 / 4 / 8 | No. 22 | No. 15 |
|
||
|
C00029812
|
Benzyl beta-D-glucopyranoside
/ (-)-Benzyl-O-beta-D-glucopyranoside |
CHEMBL1170453
CHEMBL2336738 |
C410942
|
No. 45 | No. 72 |
|
||
|
C00000956
|
(-)-Epicatechin
|
CHEMBL80941
CHEMBL311498 CHEMBL129482 CHEMBL200715 CHEMBL206452 CHEMBL583912 |
85 / 58 / 54 | No. 52 | No. 14 |
|
||
|
C00030507
|
Icariside B5
/ (-)-Icariside B5 |
No. 225 |
|
|||||
|
C00030691
|
Theanine
/ L-Theanine / (+)-Theanine |
No. 5969 |
|
| accession | description | class description | KNApSAcK metabolite in interactions |
# of diseases
(OMIM / KEGG) |
|---|---|---|---|---|
| P27695 | DNA-(apurinic or apyrimidinic site) lyase | Enzyme | C00000956 C00001059 C00001110 C00005137 | 0 / 0 |
| Q9Y253 | DNA polymerase eta | Enzyme | C00000956 C00001059 C00001110 C00005137 | 1 / 1 |
| Q9UNA4 | DNA polymerase iota | Enzyme | C00000956 C00001059 C00001110 C00005137 | 0 / 0 |
| Q13526 | Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 | Enzyme | C00001059 C00001110 C00005137 | 0 / 0 |
| Q9UBT6 | DNA polymerase kappa | Enzyme | C00000956 C00001059 C00001110 | 0 / 0 |
| P10635 | Cytochrome P450 2D6 | Cytochrome P450 2D6 | C00000956 C00001110 | 1 / 0 |
| O00255 | Menin | Unclassified protein | C00000956 C00001059 | 2 / 5 |
| Q9NUW8 | Tyrosyl-DNA phosphodiesterase 1 | Enzyme | C00000956 C00001059 | 1 / 1 |
| P06746 | DNA polymerase beta | Enzyme | C00000956 C00001059 | 0 / 0 |
| P10253 | Lysosomal alpha-glucosidase | Hydrolase | C00000956 C00001059 | 1 / 1 |
| P46063 | ATP-dependent DNA helicase Q1 | Enzyme | C00000956 C00001059 | 0 / 0 |
| B2RXH2 | Lysine-specific demethylase 4E | Enzyme | C00000956 C00001059 | 0 / 0 |
| Q9UIF8 | Bromodomain adjacent to zinc finger domain protein 2B | Unclassified protein | C00000956 C00001059 | 0 / 0 |
| Q03164 | Histone-lysine N-methyltransferase 2A | Enzyme | C00000956 C00001059 | 1 / 2 |
| Q13951 | Core-binding factor subunit beta | Unclassified protein | C00001059 C00001110 | 0 / 1 |
| Q01196 | Runt-related transcription factor 1 | Unclassified protein | C00001059 C00001110 | 1 / 4 |
| P08684 | Cytochrome P450 3A4 | Cytochrome P450 3A4 | C00000956 C00001110 | 0 / 1 |
| P33261 | Cytochrome P450 2C19 | Cytochrome P450 2C19 | C00000956 C00001110 | 1 / 1 |
| Q96QE3 | ATPase family AAA domain-containing protein 5 | Unclassified protein | C00001059 C00005137 | 0 / 0 |
| P05177 | Cytochrome P450 1A2 | Cytochrome P450 1A2 | C00000956 C00001110 | 0 / 0 |
| Q9Y468 | Lethal(3)malignant brain tumor-like protein 1 | Unclassified protein | C00001059 C00001110 | 0 / 0 |
| O94925 | Glutaminase kidney isoform, mitochondrial | Enzyme | C00001059 C00001110 | 0 / 0 |
| P11712 | Cytochrome P450 2C9 | Cytochrome P450 2C9 | C00000956 C00001110 | 0 / 1 |
| P15121 | Aldose reductase | Enzyme | C00001110 C00005137 | 0 / 0 |
| P39748 | Flap endonuclease 1 | Enzyme | C00000956 C00001059 | 0 / 0 |
| P00352 | Retinal dehydrogenase 1 | Enzyme | C00000956 C00001059 | 0 / 0 |
| P22748 | Carbonic anhydrase 4 | Lyase | C00000956 | 1 / 1 |
| P11473 | Vitamin D3 receptor | NR1I1 | C00000956 | 2 / 3 |
| P23219 | Prostaglandin G/H synthase 1 | Oxidoreductase | C00000956 | 0 / 0 |
| P41145 | Kappa-type opioid receptor | Opioid receptor | C00000956 | 0 / 0 |
| P23280 | Carbonic anhydrase 6 | Lyase | C00000956 | 0 / 0 |
| Q9Y3R4 | Sialidase-2 | Enzyme | C00000956 | 0 / 0 |
| Q9ULX7 | Carbonic anhydrase 14 | Lyase | C00000956 | 0 / 0 |
| Q9NR56 | Muscleblind-like protein 1 | Unclassified protein | C00001059 | 1 / 0 |
| P17405 | Sphingomyelin phosphodiesterase | Enzyme | C00001059 | 2 / 2 |
| O43570 | Carbonic anhydrase 12 | Lyase | C00000956 | 1 / 2 |
| P54132 | Bloom syndrome protein | Enzyme | C00000956 | 1 / 2 |
| P07998 | Ribonuclease pancreatic | Enzyme | C00000956 | 0 / 0 |
| P84022 | Mothers against decapentaplegic homolog 3 | Unclassified protein | C00000956 | 2 / 0 |
| O75496 | Geminin | Unclassified protein | C00001110 | 0 / 0 |
| P41143 | Delta-type opioid receptor | Opioid receptor | C00000956 | 0 / 0 |
| P07237 | Protein disulfide-isomerase | Enzyme | C00005137 | 0 / 0 |
| P00915 | Carbonic anhydrase 1 | Lyase | C00000956 | 0 / 0 |
| P07711 | Cathepsin L1 | C1A | C00000956 | 0 / 0 |
| P63092 | Guanine nucleotide-binding protein G(s) subunit alpha isoforms short | Other membrane protein | C00001059 | 7 / 3 |
| P49327 | Fatty acid synthase | Transferase | C00000956 | 0 / 0 |
| P09923 | Intestinal-type alkaline phosphatase | Enzyme | C00000956 | 0 / 0 |
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | Enzyme | C00000956 | 3 / 1 |
| P02768 | Serum albumin | Secreted protein | C00000956 | 0 / 0 |
| O94782 | Ubiquitin carboxyl-terminal hydrolase 1 | Enzyme | C00000956 | 0 / 0 |
| P00734 | Prothrombin | S1A | C00000956 | 4 / 2 |
| P14679 | Tyrosinase | Oxidoreductase | C00005137 | 4 / 2 |
| P04745 | Alpha-amylase 1 | Enzyme | C00000956 | 0 / 0 |
| P08581 | Hepatocyte growth factor receptor | TK tyrosine-protein kinase MET subfamily | C00000956 | 2 / 3 |
| P28482 | Mitogen-activated protein kinase 1 | Erk | C00000956 | 0 / 0 |
| P10696 | Alkaline phosphatase, placental-like | Enzyme | C00000956 | 0 / 1 |
| P56817 | Beta-secretase 1 | A1A | C00000956 | 0 / 0 |
| P00918 | Carbonic anhydrase 2 | Lyase | C00000956 | 1 / 2 |
| Q16790 | Carbonic anhydrase 9 | Lyase | C00000956 | 0 / 1 |
| Q99714 | 3-hydroxyacyl-CoA dehydrogenase type-2 | Enzyme | C00000956 | 3 / 3 |
| P15428 | 15-hydroxyprostaglandin dehydrogenase [NAD(+)] | Enzyme | C00000956 | 2 / 2 |
| Q01453 | Peripheral myelin protein 22 | Unclassified protein | C00000956 | 5 / 2 |
| P47989 | Xanthine dehydrogenase/oxidase | Oxidoreductase | C00000956 | 1 / 1 |
| P00374 | Dihydrofolate reductase | Oxidoreductase | C00000956 | 1 / 1 |
| P35372 | Mu-type opioid receptor | Opioid receptor | C00000956 | 0 / 0 |
| P19838 | Nuclear factor NF-kappa-B p105 subunit | Transcription Factor | C00000956 | 0 / 0 |
| P16050 | Arachidonate 15-lipoxygenase | Enzyme | C00000956 | 0 / 0 |
| P30989 | Neurotensin receptor type 1 | Neurotensin receptor | C00001059 | 0 / 0 |
| P16473 | Thyrotropin receptor | Glycohormone receptor | C00000956 | 3 / 2 |
| P28907 | ADP-ribosyl cyclase 1 | Enzyme | C00000956 | 0 / 1 |
| Q8N1Q1 | Carbonic anhydrase 13 | Lyase | C00000956 | 0 / 0 |
| Q6W5P4 | Neuropeptide S receptor | Neuropeptide receptor | C00000956 | 1 / 0 |
| O75164 | Lysine-specific demethylase 4A | Enzyme | C00001059 | 0 / 0 |
| P52209 | 6-phosphogluconate dehydrogenase, decarboxylating | Enzyme | C00000956 | 0 / 0 |
| P22309 | UDP-glucuronosyltransferase 1-1 | Enzyme | C00000956 | 5 / 1 |
| P10636 | Microtubule-associated protein tau | Unclassified protein | C00000956 | 4 / 3 |
| Q16236 | Nuclear factor erythroid 2-related factor 2 | Unclassified protein | C00001059 | 0 / 0 |
| P07451 | Carbonic anhydrase 3 | Lyase | C00000956 | 0 / 0 |
| P11388 | DNA topoisomerase 2-alpha | Isomerase | C00000956 | 0 / 0 |
| P10415 | Apoptosis regulator Bcl-2 | Other cytosolic protein | C00000956 | 0 / 7 |
| P43166 | Carbonic anhydrase 7 | Lyase | C00000956 | 0 / 0 |
| P35218 | Carbonic anhydrase 5A, mitochondrial | Lyase | C00000956 | 0 / 0 |
| Q9Y2D0 | Carbonic anhydrase 5B, mitochondrial | Lyase | C00000956 | 0 / 0 |
| Q96KQ7 | Histone-lysine N-methyltransferase EHMT2 | Enzyme | C00000956 | 0 / 0 |
| Q13093 | Platelet-activating factor acetylhydrolase | Enzyme | C00000956 | 3 / 0 |
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | Enzyme | C00001059 | 1 / 0 |
| P35354 | Prostaglandin G/H synthase 2 | Oxidoreductase | C00000956 | 0 / 3 |
| Q99700 | Ataxin-2 | Unclassified protein | C00005137 | 1 / 1 |
| Q16637 | Survival motor neuron protein | Unclassified protein | C00000956 | 4 / 1 |
| P18031 | Tyrosine-protein phosphatase non-receptor type 1 | Tyr | C00000956 | 0 / 0 |
| Q05513 | Protein kinase C zeta type | Iota | C00000956 | 0 / 0 |
| Q04759 | Protein kinase C theta type | Delta | C00000956 | 0 / 1 |
| Q02156 | Protein kinase C epsilon type | Eta | C00000956 | 0 / 0 |
| O94806 | Serine/threonine-protein kinase D3 | Pkd | C00000956 | 0 / 0 |
| P17252 | Protein kinase C alpha type | Alpha | C00000956 | 0 / 0 |
| Q05655 | Protein kinase C delta type | Delta | C00000956 | 0 / 0 |
| P05129 | Protein kinase C gamma type | Alpha | C00000956 | 1 / 1 |
| P05771 | Protein kinase C beta type | Alpha | C00000956 | 0 / 0 |
| P24723 | Protein kinase C eta type | Eta | C00000956 | 1 / 0 |
| P41743 | Protein kinase C iota type | Iota | C00000956 | 0 / 0 |
| Q15139 | Serine/threonine-protein kinase D1 | Pkd | C00000956 | 0 / 0 |
| P22310 | UDP-glucuronosyltransferase 1-4 | Enzyme | C00000956 | 3 / 0 |
| P01215 | Glycoprotein hormones alpha chain | Unclassified protein | C00005137 | 0 / 3 |
| Q9H0H5 | Rac GTPase-activating protein 1 | Unclassified protein | C00000956 | 0 / 0 |
| Q14191 | Werner syndrome ATP-dependent helicase | Enzyme | C00001059 | 2 / 1 |
| gene | gene name | gene description | KNApSAcK metabolite in interactions |
|---|---|---|---|
| 5320 | PLA2G2A, MOM1, PLA2, PLA2B, PLA2L, PLA2S, PLAS1, sPLA2 | phospholipase A2, group IIA (platelets, synovial fluid) (EC:3.1.1.4) |
C00005137
|
| OMIM | preferred title | UniProt |
|---|---|---|
| #300438 | 17-beta-hydroxysteroid dehydrogenase x deficiency |
Q99714
|
| #219080 | Acth-independent macronodular adrenal hyperplasia; aimah |
P63092
|
| #103470 | Albinism, ocular, with sensorineural deafness |
P14679
|
| #203100 | Albinism, oculocutaneous, type ia; oca1a |
P14679
|
| #606952 | Albinism, oculocutaneous, type ib; oca1b |
P14679
|
| #600807 | Asthma, susceptibility to |
Q13093
|
| #608584 | Asthma-related traits, susceptibility to, 2 |
Q6W5P4
|
| #601816 | Bilirubin, serum level of, quantitative trait locus 1; biliqtl1 |
P22309
|
| #210900 | Bloom syndrome; blm |
P54132
|
| #118300 | Charcot-marie-tooth disease and deafness |
Q01453
|
| #118220 | Charcot-marie-tooth disease, demyelinating, type 1a; cmt1a |
Q01453
|
| #114500 | Colorectal cancer; crc |
P84022
Q14191 |
| #218800 | Crigler-najjar syndrome, type i |
P22309
P22310 |
| #606785 | Crigler-najjar syndrome, type ii |
P22309
P22310 |
| #119900 | Digital clubbing, isolated congenital |
P15428
|
| #609535 | Drug metabolism, poor, cyp2c19-related |
P33261
|
| #608902 | Drug metabolism, poor, cyp2d6-related |
P10635
|
| #600274 | Frontotemporal dementia; ftd |
P10636
|
| #143500 | Gilbert syndrome |
P22309
P22310 |
| #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
|
| #114550 | Hepatocellular carcinoma |
P08581
|
| #237900 | Hyperbilirubinemia, transient familial neonatal; hblrtfn |
P22309
|
| #143860 | Hyperchlorhidrosis, isolated |
O43570
|
| #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
|
| #146300 | Hypophosphatasia, adult |
P05186
|
| #241510 | Hypophosphatasia, childhood |
P05186
|
| #241500 | Hypophosphatasia, infantile |
P05186
|
| #275200 | Hypothyroidism, congenital, nongoitrous, 1; chng1 |
P16473
|
| #147050 | Ige responsiveness, atopic; iger |
Q13093
|
| #613795 | Loeys-dietz syndrome, type 3; lds3 |
P84022
|
| #174800 | Mccune-albright syndrome; mas |
P63092
|
| #613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency |
P00374
|
| #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
|
| #160900 | Myotonic dystrophy 1; dm1 |
Q9NR56
|
| #162500 | Neuropathy, hereditary, with liability to pressure palsies; hnpp |
Q01453
|
| #257200 | Niemann-pick disease, type a |
P17405
|
| #607616 | Niemann-pick disease, type b |
P17405
|
| #166350 | Osseous heteroplasia, progressive; poh |
P63092
|
| #259730 | Osteopetrosis, autosomal recessive 3; optb3 |
P00918
|
| #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
|
| #614278 | Platelet-activating factor acetylhydrolase deficiency; pafad |
Q13093
|
| #614390 | Pregnancy loss, recurrent, susceptibility to, 2; rprgl2 |
P00734
|
| #613679 | Prothrombin deficiency, congenital |
P00734
|
| #103580 | Pseudohypoparathyroidism, type ia; php1a |
P63092
|
| #603233 | Pseudohypoparathyroidism, type ib; php1b |
P63092
|
| #612462 | Pseudohypoparathyroidism, type ic; php1c |
P63092
|
| #605074 | Renal cell carcinoma, papillary, 1; rccp1 |
P08581
|
| #600852 | Retinitis pigmentosa 17; rp17 |
P22748
|
| #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
|
| #605361 | Spinocerebellar ataxia 14; sca14 |
P05129
|
| #183090 | Spinocerebellar ataxia 2; sca2 |
Q99700
|
| #607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1 |
Q9NUW8
|
| #601367 | Stroke, ischemic |
P00734
P24723 |
| #601104 | Supranuclear palsy, progressive, 1; psnp1 |
P10636
|
| #188050 | Thrombophilia due to thrombin defect; thph1 |
P00734
|
| #277440 | Vitamin d-dependent rickets, type 2a; vddr2a |
P11473
|
| #277700 | Werner syndrome; wrn |
Q14191
|
| #278300 | Xanthinuria, type i |
P47989
|
| #278750 | Xeroderma pigmentosum, variant type; xpv |
Q9Y253
|
| KEGG | name | UniProt |
|---|---|---|
| H00033 | Adrenal carcinoma |
O00255
(related)
|
| H00034 | Carcinoid |
O00255
(related)
|
| H00045 | Malignant islet cell carcinoma |
O00255
(related)
|
| H00246 | Primary hyperparathyroidism |
O00255
(related)
|
| H01102 | Pituitary adenomas |
O00255
(related)
|
| H01302 | Hyperchlorhidrosis isolated (HCHLH) |
O43570
(related)
|
| H00021 | Renal cell carcinoma |
O43570
(marker)
P08581 (related) Q16790 (marker) |
| H01197 | Dihydrofolate reductase (DHFR) deficiency |
P00374
(related)
|
| H00223 | Inherited thrombophilia |
P00734
(related)
|
| H01254 | Congenital prothrombin deficiency |
P00734
(related)
|
| H00241 | Combined proximal and distal renal tubular acidosis (RTA type 3) |
P00918
(related)
|
| H00436 | Osteopetrosis |
P00918
(related)
|
| H00081 | Hashimoto's thyroiditis |
P01215
(marker)
|
| H00082 | Graves' disease |
P01215
(marker)
|
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) |
P01215
(marker)
P16473 (related) |
| H00063 | Spinocerebellar ataxia (SCA) |
P05129
(related)
Q99700 (related) Q9NUW8 (related) |
| H00213 | Hypophosphatasia |
P05186
(related)
|
| H00018 | Gastric cancer |
P08581
(related)
P10415 (related) |
| H00046 | Cholangiocarcinoma |
P08581
(related)
P35354 (related) |
| H00036 | Osteosarcoma |
P08684
(marker)
|
| H00069 | Glycogen storage diseases (GSD) |
P10253
(related)
|
| H00005 | Chronic lymphocytic leukemia (CLL) |
P10415
(related)
P28907 (marker) |
| H00013 | Small cell lung cancer |
P10415
(related)
|
| H00028 | Choriocarcinoma |
P10415
(related)
|
| H00030 | Cervical cancer |
P10415
(related)
|
| H00041 | Kaposi's sarcoma |
P10415
(related)
|
| H00054 | Nasopharyngeal cancer |
P10415
(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)
|
| H00342 | Tuberculosis |
P11473
(related)
|
| H00784 | Localized autosomal recessive hypotrichosis |
P11473
(related)
|
| H01143 | Vitamin D-dependent rickets |
P11473
(related)
|
| H01205 | Coumarin resistance |
P11712
(related)
|
| H00168 | Oculocutaneous albinism (OCA) |
P14679
(related)
|
| H00038 | Malignant melanoma |
P14679
(marker)
|
| 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)
|
| H00208 | Hyperbilirubinemia |
P22309
(related)
|
| H00527 | Retinitis pigmentosa (RP) |
P22748
(related)
|
| H01171 | Poor drug metabolism (PM) |
P33261
(related)
|
| H00017 | Esophageal cancer |
P35354
(related)
|
| H00025 | Penile cancer |
P35354
(related)
|
| H00192 | Xanthinuria |
P47989
(related)
|
| 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) |
| H00004 | Chronic myeloid leukemia (CML) |
Q01196
(related)
|
| H00978 | Thrombocytopenia (THC) |
Q01196
(related)
|
| H00264 | Charcot-Marie-Tooth disease (CMT) |
Q01453
(related)
|
| H01296 | Hereditary neuropathy with liability to pressure palsies (HNPP) |
Q01453
(related)
|
| H00002 | Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) |
Q03164
(related)
|
| H00408 | Type I diabetes mellitus |
Q04759
(related)
|
| H00455 | Spinal muscular atrophy (SMA) |
Q16637
(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)
|