| Organism name | Pericopsis elata |
|---|---|
| Genus | Pericopsis |
| Family | Fabaceae |
| Kingdom | Plantae |
| Linked NCBI taxonomy name | Pericopsis elata |
|---|---|
| Linked NCBI taxonomy ID | 1079081 |
| Linked level | species |
| Family in NCBI taxonomy | Fabaceae |
|---|---|
| ID | 3803 |
| Kingdom (Superkingdom) in NCBI taxonomy | Viridiplantae |
|---|---|
| ID | 33090 |
| Plant class | rosids |
|---|---|
| ID | 71275 |
| 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 |
|---|---|---|---|---|---|---|---|---|
|
C00002510
|
Olmelin
/ Pratensol / Biochanin A / Genistein 4'-methyl ether / 5,7-Dihydroxy-4'-methoxyisoflavone |
CHEMBL131921
|
C004541
|
51 / 65 / 83 | 64 / 2 | No. 3 | No. 15 |
|
|
C00000977
|
Liquiritigenin
|
CHEMBL252642
CHEMBL271939 |
C083152
|
5 / 4 / 4 | 1 / 1 | No. 25 | No. 14 |
|
|
C00002507
|
Castanin
/ Afromosin / Afrormosin / 7-Hydroxy-6,4'-dimethoxyisoflavone |
CHEMBL464404
|
C080240
|
7 / 14 / 39 | 1 / 0 | No. 35 | No. 15 |
|
|
C00002895
|
Piceatannol
/ 3,3',4,5'-Tetrahydroxystilbene |
CHEMBL69863
CHEMBL1603409 CHEMBL1972346 |
117 / 104 / 100 | No. 295 | No. 13 |
|
||
|
C00007948
|
2',4',alpha-Trihydroxy-4-methoxydihydrochalcone
|
No. 548 | No. 13 |
|
||||
|
C00007947
|
4,2',4',alpha-Tetrahydroxydihydrochalcone
|
CHEMBL252790
|
No. 548 | No. 13 |
|
|||
|
C00009794
|
Angolensin
|
CHEMBL1373918
|
5 / 7 / 11 | No. 1331 | No. 13 |
|
||
|
C00009795
|
2-O-Methylangolensin
|
No. 1331 | No. 13 |
|
| accession | description | class description | KNApSAcK metabolite in interactions |
# of diseases
(OMIM / KEGG) |
|---|---|---|---|---|
| Q03164 | Histone-lysine N-methyltransferase 2A | Enzyme | C00002510 C00002895 C00009794 | 1 / 2 |
| O75496 | Geminin | Unclassified protein | C00002507 C00002510 C00002895 | 0 / 0 |
| O00255 | Menin | Unclassified protein | C00002510 C00002895 C00009794 | 2 / 5 |
| P51151 | Ras-related protein Rab-9A | Unclassified protein | C00002507 C00002510 C00002895 | 0 / 0 |
| P38398 | Breast cancer type 1 susceptibility protein | Enzyme | C00002507 C00002510 C00002895 | 4 / 2 |
| P10636 | Microtubule-associated protein tau | Unclassified protein | C00002510 C00002895 C00009794 | 4 / 3 |
| P04637 | Cellular tumor antigen p53 | Transcription Factor | C00002507 C00002510 C00002895 | 7 / 37 |
| Q96QE3 | ATPase family AAA domain-containing protein 5 | Unclassified protein | C00002507 C00002510 C00002895 | 0 / 0 |
| P08684 | Cytochrome P450 3A4 | Cytochrome P450 3A4 | C00002510 C00002895 C00009794 | 0 / 1 |
| Q99714 | 3-hydroxyacyl-CoA dehydrogenase type-2 | Enzyme | C00002510 C00002895 | 3 / 3 |
| Q16637 | Survival motor neuron protein | Unclassified protein | C00002510 C00002895 | 4 / 1 |
| P27695 | DNA-(apurinic or apyrimidinic site) lyase | Enzyme | C00002510 C00002895 | 0 / 0 |
| O15118 | Niemann-Pick C1 protein | Unclassified protein | C00002510 C00002895 | 1 / 1 |
| P15428 | 15-hydroxyprostaglandin dehydrogenase [NAD(+)] | Enzyme | C00002510 C00002895 | 2 / 2 |
| P33261 | Cytochrome P450 2C19 | Cytochrome P450 2C19 | C00002510 C00002895 | 1 / 1 |
| P18054 | Arachidonate 12-lipoxygenase, 12S-type | Enzyme | C00002510 C00002895 | 2 / 0 |
| P11511 | Cytochrome P450 19A1 | Cytochrome P450 19A1 | C00000977 C00002510 | 2 / 2 |
| P04062 | Glucosylceramidase | Enzyme | C00002510 C00002895 | 6 / 4 |
| P11021 | 78 kDa glucose-regulated protein | Unclassified protein | C00002510 C00002895 | 0 / 0 |
| Q04206 | Transcription factor p65 | Transcription Factor | C00000977 C00002510 | 0 / 0 |
| B2RXH2 | Lysine-specific demethylase 4E | Enzyme | C00002510 C00002895 | 0 / 0 |
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | Enzyme | C00002507 C00002895 | 1 / 0 |
| P10635 | Cytochrome P450 2D6 | Cytochrome P450 2D6 | C00002510 C00002895 | 1 / 0 |
| Q16665 | Hypoxia-inducible factor 1-alpha | Transcription Factor | C00002510 C00002895 | 0 / 0 |
| P02545 | Prelamin-A/C | Unclassified protein | C00002510 C00002895 | 11 / 10 |
| P17405 | Sphingomyelin phosphodiesterase | Enzyme | C00002507 C00002895 | 2 / 2 |
| P00352 | Retinal dehydrogenase 1 | Enzyme | C00002510 C00002895 | 0 / 0 |
| P11712 | Cytochrome P450 2C9 | Cytochrome P450 2C9 | C00002510 C00002895 | 0 / 1 |
| P11309 | Serine/threonine-protein kinase pim-1 | Pim | C00002510 C00002895 | 0 / 0 |
| Q9UNA4 | DNA polymerase iota | Enzyme | C00002895 | 0 / 0 |
| P48729 | Casein kinase I isoform alpha | Ck1 | C00002895 | 0 / 0 |
| P16234 | Platelet-derived growth factor receptor alpha | Pdgfr | C00002895 | 2 / 1 |
| P05091 | Aldehyde dehydrogenase, mitochondrial | Oxidoreductase | C00002510 | 1 / 1 |
| Q06187 | Tyrosine-protein kinase BTK | Tec | C00002895 | 2 / 2 |
| Q14680 | Maternal embryonic leucine zipper kinase | Melk | C00002895 | 0 / 0 |
| O75828 | Carbonyl reductase [NADPH] 3 | Enzyme | C00002510 | 0 / 0 |
| P29376 | Leukocyte tyrosine kinase receptor | Alk | C00002895 | 0 / 0 |
| P54132 | Bloom syndrome protein | Enzyme | C00002895 | 1 / 2 |
| Q9NR56 | Muscleblind-like protein 1 | Unclassified protein | C00002895 | 1 / 0 |
| P00533 | Epidermal growth factor receptor | TK tyrosine-protein kinase EGFR subfamily | C00002510 | 1 / 8 |
| Q15746 | Myosin light chain kinase, smooth muscle | Mlck | C00002895 | 1 / 1 |
| Q13188 | Serine/threonine-protein kinase 3 | STE serine/threonine protein kinase MST subfamily | C00002895 | 0 / 0 |
| Q13464 | Rho-associated protein kinase 1 | Rock | C00002895 | 0 / 0 |
| O15296 | Arachidonate 15-lipoxygenase B | Enzyme | C00002895 | 0 / 0 |
| P17948 | Vascular endothelial growth factor receptor 1 | Vegfr | C00002895 | 0 / 0 |
| P10828 | Thyroid hormone receptor beta | NR1A2 | C00002895 | 3 / 1 |
| P55789 | FAD-linked sulfhydryl oxidase ALR | Enzyme | C00002895 | 1 / 0 |
| Q02779 | Mitogen-activated protein kinase kinase kinase 10 | TKL dual-specificity kinase MLK | C00002895 | 0 / 0 |
| Q9UQM7 | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Camk2 | C00002895 | 0 / 0 |
| P36888 | Receptor-type tyrosine-protein kinase FLT3 | Pdgfr | C00002895 | 1 / 1 |
| Q9UHD2 | Serine/threonine-protein kinase TBK1 | Ikk | C00002895 | 1 / 0 |
| Q8IXJ6 | NAD-dependent protein deacetylase sirtuin-2 | Enzyme | C00002895 | 0 / 0 |
| P39748 | Flap endonuclease 1 | Enzyme | C00002895 | 0 / 0 |
| Q92830 | Histone acetyltransferase KAT2A | Enzyme | C00002895 | 0 / 0 |
| Q9Y463 | Dual specificity tyrosine-phosphorylation-regulated kinase 1B | CMGC dual-specificity kinase DYRK1 | C00002895 | 0 / 0 |
| P16152 | Carbonyl reductase [NADPH] 1 | Enzyme | C00002510 | 0 / 0 |
| O95819 | Mitogen-activated protein kinase kinase kinase kinase 4 | STE serine/threonine protein kinase MSN subfamily | C00002895 | 0 / 0 |
| Q9HBY8 | Serine/threonine-protein kinase Sgk2 | AGC serine/threonine protein kinase SGK subfamily | C00002895 | 0 / 0 |
| P27448 | MAP/microtubule affinity-regulating kinase 3 | CAMK serine/threonine protein kinase MARK subfamily | C00002895 | 0 / 0 |
| P28907 | ADP-ribosyl cyclase 1 | Enzyme | C00002895 | 0 / 1 |
| Q04759 | Protein kinase C theta type | Delta | C00002895 | 0 / 1 |
| Q92731 | Estrogen receptor beta | NR3A2 | C00002510 | 0 / 1 |
| P49841 | Glycogen synthase kinase-3 beta | Gsk | C00002895 | 0 / 0 |
| Q05397 | Focal adhesion kinase 1 | Fak | C00002895 | 0 / 0 |
| P53779 | Mitogen-activated protein kinase 10 | Jnk | C00002895 | 0 / 1 |
| P40763 | Signal transducer and activator of transcription 3 | Transcription Factor | C00002510 | 1 / 2 |
| P43220 | Glucagon-like peptide 1 receptor | Glucagon-like peptide receptor | C00002510 | 0 / 0 |
| Q14164 | Inhibitor of nuclear factor kappa-B kinase subunit epsilon | Other serine/threonine protein kinase | C00002895 | 0 / 0 |
| Q96RR4 | Calcium/calmodulin-dependent protein kinase kinase 2 | META serine/threonine protein kinase subfamily | C00002895 | 0 / 0 |
| Q9UM73 | ALK tyrosine kinase receptor | TKL serine/threonine protein kinase STKR type 1 subfamily | C00002895 | 1 / 1 |
| P14780 | Matrix metalloproteinase-9 | M10A | C00000977 | 2 / 2 |
| Q9Y253 | DNA polymerase eta | Enzyme | C00002895 | 1 / 1 |
| Q9Y468 | Lethal(3)malignant brain tumor-like protein 1 | Unclassified protein | C00002895 | 0 / 0 |
| P83916 | Chromobox protein homolog 1 | Unclassified protein | C00002895 | 0 / 0 |
| Q9HC16 | DNA dC->dU-editing enzyme APOBEC-3G | Enzyme | C00002895 | 0 / 0 |
| P29466 | Caspase-1 | C14 | C00002895 | 0 / 0 |
| O94782 | Ubiquitin carboxyl-terminal hydrolase 1 | Enzyme | C00009794 | 0 / 0 |
| P34947 | G protein-coupled receptor kinase 5 | AGC serine/threonine protein kinase GRK subfamily | C00002895 | 0 / 0 |
| P04150 | Glucocorticoid receptor | NR3C1 | C00002510 | 0 / 1 |
| P06746 | DNA polymerase beta | Enzyme | C00002895 | 0 / 0 |
| P12931 | Proto-oncogene tyrosine-protein kinase Src | Src | C00002895 | 0 / 0 |
| O60674 | Tyrosine-protein kinase JAK2 | Jakb | C00002895 | 5 / 1 |
| P35968 | Vascular endothelial growth factor receptor 2 | Vegfr | C00002895 | 1 / 0 |
| P21728 | D(1A) dopamine receptor | Dopamine receptor | C00002895 | 0 / 0 |
| P28482 | Mitogen-activated protein kinase 1 | Erk | C00002510 | 0 / 0 |
| P05177 | Cytochrome P450 1A2 | Cytochrome P450 1A2 | C00002895 | 0 / 0 |
| P14618 | Pyruvate kinase PKM | Enzyme | C00002895 | 0 / 0 |
| Q06418 | Tyrosine-protein kinase receptor TYRO3 | TK tyrosine-protein kinase AXL | C00002895 | 0 / 0 |
| Q9UNQ0 | ATP-binding cassette sub-family G member 2 | ATP binding cassette | C00002510 | 2 / 0 |
| Q7L7X3 | Serine/threonine-protein kinase TAO1 | STE serine/threonine protein kinase TAO subfamily | C00002895 | 0 / 0 |
| Q92887 | Canalicular multispecific organic anion transporter 1 | Unclassified protein | C00002510 | 1 / 1 |
| Q9H0K1 | Serine/threonine-protein kinase SIK2 | CAMK serine/threonine protein kinase QIK subfamily | C00002895 | 0 / 0 |
| P49798 | Regulator of G-protein signaling 4 | Unclassified protein | C00002895 | 2 / 0 |
| Q99700 | Ataxin-2 | Unclassified protein | C00002895 | 1 / 1 |
| Q01453 | Peripheral myelin protein 22 | Unclassified protein | C00002895 | 5 / 2 |
| Q9UIF8 | Bromodomain adjacent to zinc finger domain protein 2B | Unclassified protein | C00002895 | 0 / 0 |
| P03372 | Estrogen receptor | NR3A1 | C00002510 | 1 / 1 |
| P11362 | Fibroblast growth factor receptor 1 | Fgfr | C00002895 | 4 / 5 |
| P49840 | Glycogen synthase kinase-3 alpha | Gsk | C00002895 | 0 / 0 |
| O75116 | Rho-associated protein kinase 2 | Rock | C00002895 | 0 / 0 |
| P08631 | Tyrosine-protein kinase HCK | Src | C00002895 | 0 / 0 |
| P16050 | Arachidonate 15-lipoxygenase | Enzyme | C00002895 | 0 / 0 |
| P51812 | Ribosomal protein S6 kinase alpha-3 | Rskb | C00002895 | 2 / 2 |
| P07333 | Macrophage colony-stimulating factor 1 receptor | Pdgfr | C00002895 | 1 / 1 |
| Q04771 | Activin receptor type-1 | TKL serine/threonine protein kinase STKR1 subfamily | C00002895 | 1 / 1 |
| P37059 | Estradiol 17-beta-dehydrogenase 2 | Enzyme | C00002510 | 0 / 0 |
| P49336 | Cyclin-dependent kinase 8 | Cdk8 | C00002895 | 0 / 0 |
| Q8IU85 | Calcium/calmodulin-dependent protein kinase type 1D | Camk1 | C00002895 | 0 / 0 |
| P07949 | Proto-oncogene tyrosine-protein kinase receptor Ret | Ret | C00002895 | 9 / 4 |
| P08183 | Multidrug resistance protein 1 | drug | C00002510 | 1 / 0 |
| Q15046 | Lysine--tRNA ligase | Enzyme | C00002895 | 2 / 1 |
| O75164 | Lysine-specific demethylase 4A | Enzyme | C00002895 | 0 / 0 |
| P08922 | Proto-oncogene tyrosine-protein kinase ROS | TK tyrosine-protein kinase SEV | C00002895 | 0 / 1 |
| P18031 | Tyrosine-protein phosphatase non-receptor type 1 | Tyr | C00000977 | 0 / 0 |
| Q99549 | M-phase phosphoprotein 8 | Unclassified protein | C00002895 | 0 / 0 |
| Q16236 | Nuclear factor erythroid 2-related factor 2 | Unclassified protein | C00002895 | 0 / 0 |
| Q5S007 | Leucine-rich repeat serine/threonine-protein kinase 2 | TKL serine/threonine protein kinase LRRK subfamily | C00002895 | 2 / 2 |
| P10275 | Androgen receptor | NR3C4 | C00002510 | 3 / 4 |
| P05412 | Transcription factor AP-1 | Transcription Factor | C00000977 | 0 / 0 |
| P06239 | Tyrosine-protein kinase Lck | Src | C00002895 | 0 / 1 |
| P52333 | Tyrosine-protein kinase JAK3 | Jakb | C00002895 | 1 / 1 |
| P43405 | Tyrosine-protein kinase SYK | Syk | C00002895 | 0 / 0 |
| P17612 | cAMP-dependent protein kinase catalytic subunit alpha | Pka | C00002895 | 0 / 0 |
| Q13627 | Dual specificity tyrosine-phosphorylation-regulated kinase 1A | CMGC dual-specificity kinase DYRK1 | C00002895 | 1 / 0 |
| P49760 | Dual specificity protein kinase CLK2 | Clk | C00002895 | 0 / 0 |
| Q07912 | Activated CDC42 kinase 1 | TK tyrosine-protein kinase ACK subfamily | C00002895 | 0 / 0 |
| Q9UBT6 | DNA polymerase kappa | Enzyme | C00002895 | 0 / 0 |
| Q96L34 | MAP/microtubule affinity-regulating kinase 4 | CAMK serine/threonine protein kinase MARK subfamily | C00002895 | 0 / 0 |
| P51817 | cAMP-dependent protein kinase catalytic subunit PRKX | Pka | C00002895 | 0 / 0 |
| P33527 | Multidrug resistance-associated protein 1 | drugs | C00002510 | 0 / 0 |
| P46063 | ATP-dependent DNA helicase Q1 | Enzyme | C00002510 | 0 / 0 |
| P40225 | Thrombopoietin | Unclassified protein | C00002895 | 1 / 1 |
| P42224 | Signal transducer and activator of transcription 1-alpha/beta | Unclassified protein | C00002510 | 3 / 3 |
| Q96KQ7 | Histone-lysine N-methyltransferase EHMT2 | Enzyme | C00002895 | 0 / 0 |
| Q9NUW8 | Tyrosyl-DNA phosphodiesterase 1 | Enzyme | C00002895 | 1 / 1 |
| P14061 | Estradiol 17-beta-dehydrogenase 1 | Enzyme | C00002510 | 0 / 0 |
| Q02750 | Dual specificity mitogen-activated protein kinase kinase 1 | Ste7 | C00002895 | 1 / 1 |
| P42345 | Serine/threonine-protein kinase mTOR | Enzyme | C00002895 | 0 / 0 |
| Q13951 | Core-binding factor subunit beta | Unclassified protein | C00002895 | 0 / 1 |
| Q01196 | Runt-related transcription factor 1 | Unclassified protein | C00002895 | 1 / 4 |
| Q00653 | Nuclear factor NF-kappa-B p100 subunit | Transcription Factor | C00002510 | 0 / 0 |
| P19838 | Nuclear factor NF-kappa-B p105 subunit | Transcription Factor | C00002510 | 0 / 0 |
| P27338 | Amine oxidase [flavin-containing] B | Oxidoreductase | C00002510 | 0 / 0 |
| P21397 | Amine oxidase [flavin-containing] A | Oxidoreductase | C00002510 | 1 / 1 |
| O94925 | Glutaminase kidney isoform, mitochondrial | Enzyme | C00002895 | 0 / 0 |
| Q13148 | TAR DNA-binding protein 43 | Unclassified protein | C00002510 | 1 / 1 |
| Q9HCT0 | Fibroblast growth factor 22 | Unclassified protein | C00002895 | 0 / 0 |
| gene | gene name | gene description | KNApSAcK metabolite in interactions |
|---|---|---|---|
| 4363 | ABCC1, ABC29, ABCC, GS-X, MRP, MRP1 | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 |
C00002507
C00002510
|
| 55183 | RIF1 | RAP1 interacting factor homolog (yeast) |
C00002510
|
| 375790 | AGRN | agrin |
C00002510
|
| 196 | AHR, bHLHe76 | aryl hydrocarbon receptor |
C00002510
|
| 501 | ALDH7A1, ATQ1, EPD, PDE | aldehyde dehydrogenase 7 family, member A1 (EC:1.2.1.3 1.2.1.8 1.2.1.31) |
C00002510
|
| 84159 | ARID5B, DESRT, MRF-2, MRF2 | AT rich interactive domain 5B (MRF1-like) |
C00002510
|
| 596 | BCL2, Bcl-2, PPP1R50 | B-cell CLL/lymphoma 2 |
C00002510
|
| 598 | BCL2L1, BCL-XL/S, BCL2L, BCLX, BCLXL, BCLXS, Bcl-X, PPP1R52, bcl-xL, bcl-xS | BCL2-like 1 |
C00002510
|
| 9577 | BRE, BRCC4, BRCC45 | brain and reproductive organ-expressed (TNFRSF1A modulator) |
C00002510
|
| 836 | CASP3, CPP32, CPP32B, SCA-1 | caspase 3, apoptosis-related cysteine peptidase (EC:3.4.22.56) |
C00002510
|
| 1000 | CDH2, CD325, CDHN, CDw325, NCAD | cadherin 2, type 1, N-cadherin (neuronal) |
C00002510
|
| 1026 | CDKN1A, CAP20, CDKN1, CIP1, MDA-6, P21, SDI1, WAF1, p21CIP1 | cyclin-dependent kinase inhibitor 1A (p21, Cip1) |
C00002510
|
| 1152 | CKB, B-CK, CKBB | creatine kinase, brain (EC:2.7.3.2) |
C00002510
|
| 1588 | CYP19A1, ARO, ARO1, CPV1, CYAR, CYP19, CYPXIX, P-450AROM | cytochrome P450, family 19, subfamily A, polypeptide 1 (EC:1.14.14.1) |
C00002510
|
| 1543 | CYP1A1, AHH, AHRR, CP11, CYP1, P1-450, P450-C, P450DX | cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) |
C00002510
|
| 1544 | CYP1A2, CP12, P3-450, P450(PA) | cytochrome P450, family 1, subfamily A, polypeptide 2 (EC:1.14.14.1) |
C00002510
|
| 1545 | CYP1B1, CP1B, CYPIB1, GLC3A, P4501B1 | cytochrome P450, family 1, subfamily B, polypeptide 1 (EC:1.14.14.1) |
C00002510
|
| 1594 | CYP27B1, CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR | cytochrome P450, family 27, subfamily B, polypeptide 1 (EC:1.14.13.13) |
C00002510
|
| 51071 | DERA, DEOC | deoxyribose-phosphate aldolase (putative) (EC:4.1.2.4) |
C00002510
|
| 1983 | EIF5, EIF-5, EIF-5A | eukaryotic translation initiation factor 5 |
C00002510
|
| 59084 | ENPP5 | ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) |
C00002510
|
| 2060 | EPS15, AF-1P, AF1P, MLLT5 | epidermal growth factor receptor pathway substrate 15 |
C00002510
|
| 2099 | ESR1, ER, ESR, ESRA, ESTRR, Era, NR3A1 | estrogen receptor 1 |
C00002510
|
| 2100 | ESR2, ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2 | estrogen receptor 2 (ER beta) |
C00002510
|
| 2101 | ESRRA, ERR1, ERRa, ERRalpha, ESRL1, NR3B1 | estrogen-related receptor alpha |
C00002510
|
| 2103 | ESRRB, DFNB35, ERR2, ERRb, ESRL2, NR3B2 | estrogen-related receptor beta |
C00002510
|
| 2104 | ESRRG, ERR3, ERRgamma, NR3B3 | estrogen-related receptor gamma |
C00002510
|
| 2091 | FBL, FIB, FLRN, RNU3IP1 | fibrillarin |
C00002510
|
| 2348 | FOLR1, FBP, FOLR | folate receptor 1 (adult) |
C00002510
|
| 2760 | GM2A, GM2-AP, SAP-3 | GM2 ganglioside activator |
C00002510
|
| 2773 | GNAI3, 87U6, ARCND1 | guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 |
C00002510
|
| 2876 | GPX1, GPXD, GSHPX1 | glutathione peroxidase 1 (EC:1.11.1.9) |
C00002510
|
| 9766 | KIAA0247 |
C00002510
|
|
| 753 | LDLRAD4, C18orf1 | low density lipoprotein receptor class A domain containing 4 |
C00002510
|
| 56925 | LXN, ECI, TCI | latexin |
C00002510
|
| 4323 | MMP14, MMP-14, MMP-X1, MT-MMP, MT-MMP_1, MT1-MMP, MT1MMP, MTMMP1, WNCHRS | matrix metallopeptidase 14 (membrane-inserted) (EC:3.4.24.80) |
C00002510
|
| 4313 | MMP2, CLG4, CLG4A, MMP-II, MONA, TBE-1 | matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (EC:3.4.24.24) |
C00002510
|
| 4318 | MMP9, CLG4B, GELB, MANDP2, MMP-9 | matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (EC:3.4.24.35) |
C00002510
|
| 4502 | MT2A, MT2 | metallothionein 2A |
C00002510
|
| 4698 | NDUFA5, B13, CI-13KD-B, CI-13kB, NUFM, UQOR13 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (EC:1.6.5.3 1.6.99.3) |
C00002510
|
| 4841 | NONO, NMT55, NRB54, P54, P54NRB | non-POU domain containing, octamer-binding |
C00002510
|
| 142 | PARP1, ADPRT, ADPRT_1, ADPRT1, ARTD1, PARP, PARP-1, PPOL, pADPRT-1 | poly (ADP-ribose) polymerase 1 (EC:2.4.2.30) |
C00002510
|
| 5204 | PFDN5, MM-1, MM1, PFD5 | prefoldin subunit 5 |
C00002510
|
| 5241 | PGR, NR3C3, PR | progesterone receptor |
C00002510
|
| 5329 | PLAUR, CD87, U-PAR, UPAR, URKR | plasminogen activator, urokinase receptor |
C00002510
|
| 10957 | PNRC1, B4-2, PNAS-145, PROL2, PRR2 | proline-rich nuclear receptor coactivator 1 |
C00002510
|
| 55684 | RABL6, C9orf86, PARF, RBEL1, pp8875 | RAB, member RAS oncogene family-like 6 |
C00002510
|
| 5970 | RELA, NFKB3, p65 | v-rel avian reticuloendotheliosis viral oncogene homolog A |
C00002510
|
| 1244 | ABCC2, ABC30, CMOAT, DJS, MRP2, cMRP | ATP-binding cassette, sub-family C (CFTR/MRP), member 2 |
C00002510
|
| 285367 | RPUSD3 | RNA pseudouridylate synthase domain containing 3 |
C00002510
|
| 6455 | SH3GL1, CNSA1, EEN, SH3D2B, SH3P8 | SH3-domain GRB2-like 1 |
C00002510
|
| 5250 | SLC25A3, PHC, PTP | solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 |
C00002510
|
| 6426 | SRSF1, ASF, SF2, SF2p33, SFRS1, SRp30a | serine/arginine-rich splicing factor 1 |
C00002510
|
| 84222 | TMEM191A, TMEM191AP | transmembrane protein 191A (pseudogene) |
C00002510
|
| 27242 | TNFRSF21, BM-018, CD358, DR6 | tumor necrosis factor receptor superfamily, member 21 |
C00002510
|
| 203068 | TUBB, M40, OK/SW-cl.56, TUBB1, TUBB5 | tubulin, beta class I |
C00002510
|
| 7322 | UBE2D2, E2(17)KB2, PUBC1, UBC4, UBC4/5, UBCH5B | ubiquitin-conjugating enzyme E2D 2 (EC:6.3.2.19) |
C00002510
|
| 54658 | UGT1A1, BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT_1-1, UGT1, UGT1A | UDP glucuronosyltransferase 1 family, polypeptide A1 (EC:2.4.1.17) |
C00002510
|
| 54575 | UGT1A10, UDPGT, UGT-1J, UGT1-10, UGT1.10, UGT1J | UDP glucuronosyltransferase 1 family, polypeptide A10 (EC:2.4.1.17) |
C00002510
|
| 54577 | UGT1A7, UDPGT, UDPGT_1-7, UGT-1G, UGT1-07, UGT1.7, UGT1G | UDP glucuronosyltransferase 1 family, polypeptide A7 (EC:2.4.1.17) |
C00002510
|
| 54576 | UGT1A8, UDPGT, UDPGT_1-8, UGT-1H, UGT1-08, UGT1.8, UGT1A8S, UGT1H | UDP glucuronosyltransferase 1 family, polypeptide A8 (EC:2.4.1.17) |
C00002510
|
| 54600 | UGT1A9, HLUGP4, LUGP4, UDPGT, UDPGT_1-9, UGT-1I, UGT1-09, UGT1-9, UGT1.9, UGT1AI, UGT1I | UDP glucuronosyltransferase 1 family, polypeptide A9 (EC:2.4.1.17) |
C00002510
|
| 54663 | WDR74 | WD repeat domain 74 |
C00002510
|
| 80014 | WWC2, BOMB | WW and C2 domain containing 2 |
C00002510
|
| 1831 | TSC22D3, DIP, DSIPI, GILZ, TSC-22R, hDIP | TSC22 domain family, member 3 |
C00000977
|
| OMIM | preferred title | UniProt |
|---|---|---|
| #300438 | 17-beta-hydroxysteroid dehydrogenase x deficiency |
Q99714
|
| #202300 | Adrenocortical carcinoma, hereditary; adcc |
P04637
|
| #300755 | Agammaglobulinemia, x-linked; xla |
Q06187
|
| #610251 | Alcohol sensitivity, acute |
P05091
|
| #612069 | Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia; als10 |
Q13148
|
| #300068 | Androgen insensitivity syndrome; ais |
P10275
|
| #312300 | Androgen insensitivity, partial; pais |
P10275
|
| #613780 | Aortic aneurysm, familial thoracic 7; aat7 |
Q15746
|
| #613546 | Aromatase deficiency |
P11511
|
| #139300 | Aromatase excess syndrome; aexs |
P11511
|
| #209950 | Atypical mycobacteriosis, familial |
P42224
|
| #614740 | Basal cell carcinoma, susceptibility to, 7; bcc7 |
P04637
|
| #614490 | Blood group, junior system; jr |
Q9UNQ0
|
| #210900 | Bloom syndrome; blm |
P54132
|
| #114480 | Breast cancer |
P38398
|
| #604370 | Breast-ovarian cancer, familial, susceptibility to, 1; brovca1 |
P38398
|
| #300615 | Brunner syndrome |
P21397
|
| #600880 | Budd-chiari syndrome; bdchs |
O60674
|
| #614162 | Candidiasis, familial, 7; candf7 |
P42224
|
| #615279 | Cardiofaciocutaneous syndrome 3; cfc3 |
Q02750
|
| #115200 | Cardiomyopathy, dilated, 1a; cmd1a |
P02545
|
| #212112 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism |
P02545
|
| #209880 | Central hypoventilation syndrome, congenital; cchs |
P07949
|
| #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
|
| #613641 | Charcot-marie-tooth disease, recessive intermediate b; cmtrib |
Q15046
|
| #303600 | Coffin-lowry syndrome; cls |
P51812
|
| #114500 | Colorectal cancer; crc |
P07949
P18054 |
| #613916 | Deafness, autosomal recessive 89; dfnb89 |
Q15046
|
| #119900 | Digital clubbing, isolated congenital |
P15428
|
| #609535 | Drug metabolism, poor, cyp2c19-related |
P33261
|
| #608902 | Drug metabolism, poor, cyp2d6-related |
P10635
|
| #237500 | Dubin-johnson syndrome; djs |
Q92887
|
| #181350 | Emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2 |
P02545
|
| #133239 | Esophageal cancer |
P04637
P18054 |
| #615363 | Estrogen resistance; estrr |
P03372
|
| #135100 | Fibrodysplasia ossificans progressiva; fop |
Q04771
|
| #600274 | Frontotemporal dementia; ftd |
P10636
|
| #606764 | Gastrointestinal stromal tumor; gist |
P16234
|
| #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
|
| #177700 | Glaucoma 1, open angle, p; glc1p |
Q9UHD2
|
| #137800 | Glioma susceptibility 1; glm1 |
O75874
|
| #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
|
| #602089 | Hemangioma, capillary infantile |
P35968
|
| #142623 | Hirschsprung disease, susceptibility to, 1; hscr1 |
P07949
|
| #176670 | Hutchinson-gilford progeria syndrome; hgps |
P02545
|
| #147060 | Hyper-ige recurrent infection syndrome, autosomal dominant |
P40763
|
| #607685 | Hypereosinophilic syndrome, idiopathic; hes |
P16234
|
| #145000 | Hyperparathyroidism 1; hrpt1 |
O00255
|
| #145900 | Hypertrophic neuropathy of dejerine-sottas |
Q01453
|
| #259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1 |
P15428
|
| #147950 | Hypogonadotropic hypogonadism 2 with or without anosmia; hh2 |
P11362
|
| #612244 | Inflammatory bowel disease 13; ibd13 |
P08183
|
| #603932 | Intervertebral disc disease; idd |
P14780
|
| #307200 | Isolated growth hormone deficiency, type iii; ighd3 |
Q06187
|
| #601626 | Leukemia, acute myeloid; aml |
O60674
P36888 |
| #221820 | Leukoencephalopathy, diffuse hereditary, with spheroids; hdls |
P07333
|
| #151623 | Li-fraumeni syndrome 1; lfs1 |
P04637
|
| #151660 | Lipodystrophy, familial partial, type 2; fpld2 |
P02545
|
| #211980 | Lung cancer |
P00533
P04637 |
| #248370 | Mandibuloacral dysplasia with type a lipodystrophy; mada |
P02545
|
| #614104 | Mental retardation, autosomal dominant 7; mrd7 |
Q13627
|
| #300705 | Mental retardation, x-linked 17; mrx17 |
Q99714
|
| #300844 | Mental retardation, x-linked 19; mrx19 |
P51812
|
| #300220 | Mental retardation, x-linked, syndromic 10; mrxs10 |
Q99714
|
| #613073 | Metaphyseal anadysplasia 2; mandp2 |
P14780
|
| #131100 | Multiple endocrine neoplasia, type i; men1 |
O00255
|
| #171400 | Multiple endocrine neoplasia, type iia; men2a |
P07949
|
| #162300 | Multiple endocrine neoplasia, type iib; men2b |
P07949
|
| #613205 | Muscular dystrophy, congenital, lmna-related |
P02545
|
| #159001 | Muscular dystrophy, limb-girdle, type 1b; lgmd1b |
P02545
|
| #613796 | Mycobacterial and viral infections, susceptibility to, autosomal recessive |
P42224
|
| #254450 | Myelofibrosis |
O60674
|
| #613076 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
P55789
|
| #160900 | Myotonic dystrophy 1; dm1 |
Q9NR56
|
| #613014 | Neuroblastoma, susceptibility to, 3; nblst3 |
Q9UM73
|
| #162500 | Neuropathy, hereditary, with liability to pressure palsies; hnpp |
Q01453
|
| #257200 | Niemann-pick disease, type a |
P17405
|
| #607616 | Niemann-pick disease, type b |
P17405
|
| #257220 | Niemann-pick disease, type c1; npc1 |
O15118
|
| #166250 | Osteoglophonic dysplasia; ogd |
P11362
|
| #167000 | Ovarian cancer |
P38398
|
| #614320 | Pancreatic cancer, susceptibility to, 4; pnca4 |
P38398
|
| #260500 | Papilloma of choroid plexus; cpp |
P04637
|
| #607060 | Parkinson disease 8, autosomal dominant; park8 |
Q5S007
|
| #168600 | Parkinson disease, late-onset; pd |
P04062
Q5S007 |
| #260540 | Parkinson-dementia syndrome |
P10636
|
| #101600 | Pfeiffer syndrome |
P11362
|
| #171300 | Pheochromocytoma |
P07949
|
| #172700 | Pick disease of brain |
P10636
|
| #601399 | Platelet disorder, familial, with associated myeloid malignancy |
Q01196
|
| #263300 | Polycythemia vera; pv |
O60674
|
| #191830 | Renal adysplasia |
P07949
|
| #275210 | Restrictive dermopathy, lethal |
P02545
|
| #604906 | Schizophrenia 9; sczd9 |
P49798
|
| #181500 | Schizophrenia; sczd |
P49798
|
| #600802 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative |
P52333
|
| #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
|
| #187950 | Thrombocythemia 1; thcyt1 |
P40225
|
| #614521 | Thrombocythemia 3; thcyt3 |
O60674
|
| #155240 | Thyroid carcinoma, familial medullary; mtc |
P07949
|
| #188550 | Thyroid carcinoma, papillary |
P07949
|
| #188570 | Thyroid hormone resistance, generalized, autosomal dominant; grth |
P10828
|
| #274300 | Thyroid hormone resistance, generalized, autosomal recessive; grth |
P10828
|
| #145650 | Thyroid hormone resistance, selective pituitary; prth |
P10828
|
| #190440 | Trigonocephaly 1; trigno1 |
P11362
|
| #138900 | Uric acid concentration, serum, quantitative trait locus 1; uaqtl1 |
Q9UNQ0
|
| #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)
|
| H00012 | Polycythemia vera |
O60674
(related)
O60674 (marker) |
| H00016 | Oral cancer |
P00533
(related)
P00533 (marker) P04637 (related) P04637 (marker) P40763 (related) |
| H00017 | Esophageal cancer |
P00533
(related)
P04637 (related) P04637 (marker) |
| H00018 | Gastric cancer |
P00533
(related)
P04637 (related) |
| H00022 | Bladder cancer |
P00533
(related)
P04637 (related) |
| H00028 | Choriocarcinoma |
P00533
(related)
P04637 (related) P07333 (related) |
| H00030 | Cervical cancer |
P00533
(related)
|
| H00042 | Glioma |
P00533
(related)
P00533 (marker) P04637 (related) P04637 (marker) P16234 (related) |
| H00055 | Laryngeal cancer |
P00533
(related)
P00533 (marker) P04637 (related) P04637 (marker) |
| H00264 | Charcot-Marie-Tooth disease (CMT) |
P02545
(related)
Q01453 (related) Q15046 (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) Q92731 (marker) |
| H00066 | Lewy body dementia (LBD) |
P04062
(related)
Q5S007 (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)
P11511 (related) |
| H00004 | Chronic myeloid leukemia (CML) |
P04637
(related)
Q01196 (related) |
| H00005 | Chronic lymphocytic leukemia (CLL) |
P04637
(related)
P28907 (marker) |
| 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)
P08922 (related) Q9UM73 (related) |
| H00015 | Malignant pleural mesothelioma |
P04637
(related)
|
| H00019 | Pancreatic cancer |
P04637
(related)
P04637 (marker) |
| H00020 | Colorectal cancer |
P04637
(related)
P04637 (marker) |
| H00025 | Penile cancer |
P04637
(related)
P04637 (marker) P14780 (related) |
| H00027 | Ovarian cancer |
P04637
(related)
P38398 (related) |
| H00029 | Vulvar cancer |
P04637
(related)
|
| H00031 | Breast cancer |
P04637
(related)
P38398 (related) |
| H00032 | Thyroid cancer |
P04637
(related)
P07949 (related) P07949 (marker) |
| 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)
|
| H00046 | Cholangiocarcinoma |
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)
|
| H01071 | Acute alcohol sensitivity |
P05091
(related)
|
| H00093 | Combined immunodeficiencies (CIDs) |
P06239
(related)
|
| H00822 | Renal agenesis and Renal adysplasia |
P07949
(related)
|
| H00910 | Hirschsprung disease (HD) |
P07949
(related)
|
| H00916 | Congenital central hypoventilation syndrome (CCHS) |
P07949
(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)
|
| H00249 | Thyroid hormone resistance syndrome |
P10828
(related)
|
| H00255 | Hypogonadotropic hypogonadism |
P11362
(related)
|
| H00443 | Osteoglophonic dysplasia (OD) |
P11362
(related)
|
| H00458 | Craniosynostosis |
P11362
(related)
|
| H00516 | Isolated orofacial clefts |
P11362
(related)
|
| H01207 | Trigonocephaly |
P11362
(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)
|
| H00137 | Niemann-Pick disease (NPD) typeA and B |
P17405
(related)
|
| H00424 | Defects in the degradation of sphingomyelin |
P17405
(related)
|
| H00548 | Brunner syndrome |
P21397
(related)
|
| H01171 | Poor drug metabolism (PM) |
P33261
(related)
|
| H00003 | Acute myeloid leukemia (AML) |
P36888
(related)
Q01196 (related) Q01196 (marker) Q13951 (marker) |
| H00227 | Congenital amegakaryocytic thrombocytopenia (CAMT) |
P40225
(marker)
|
| H00107 | Other well-defined immunodeficiency syndromes |
P40763
(related)
|
| H00089 | IFN-gamma/IL-12 axis |
P42224
(related)
|
| H00363 | Candidiasis |
P42224
(related)
|
| H01109 | Chronic mucocutaneous candidiasis (CMC) |
P42224
(related)
|
| H00480 | Non-syndromic X-linked mental retardation |
P51812
(related)
Q99714 (related) |
| H00574 | Coffin-Lowry syndrome (CLS) |
P51812
(related)
|
| H00091 | T-B+Severe combined immunodeficiencies (SCIDs) |
P52333
(related)
|
| H00606 | Early infantile epileptic encephalopathy |
P53779
(related)
|
| H00094 | DNA repair defects |
P54132
(related)
|
| H00296 | Defects in RecQ helicases |
P54132
(related)
|
| H00001 | Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) |
Q01196
(related)
Q01196 (marker) Q03164 (related) Q03164 (marker) |
| H00978 | Thrombocytopenia (THC) |
Q01196
(related)
|
| H01296 | Hereditary neuropathy with liability to pressure palsies (HNPP) |
Q01453
(related)
|
| H00523 | Noonan syndrome and related disorders |
Q02750
(related)
|
| H00002 | Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) |
Q03164
(related)
|
| H00408 | Type I diabetes mellitus |
Q04759
(related)
|
| H00430 | Fibrodysplasia ossificans progressiva (FOP) |
Q04771
(related)
Q04771 (marker) |
| H00085 | Agammaglobulinemias |
Q06187
(related)
|
| H00254 | Pituitary Dwarfism (PD) |
Q06187
(related)
|
| H00801 | Familial thoracic aortic aneurysm and dissection (TAAD) |
Q15746
(related)
|
| H00455 | Spinal muscular atrophy (SMA) |
Q16637
(related)
|
| H00057 | Parkinson's disease (PD) |
Q5S007
(related)
|
| H00208 | Hyperbilirubinemia |
Q92887
(related)
|
| H00063 | Spinocerebellar ataxia (SCA) |
Q99700
(related)
Q9NUW8 (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)
|