Metabolite

KNApSAcK Entry

id C00000615
Name Caffeic acid
CAS RN 501-16-6
Standard InChI InChI=1S/C9H8O4/c10-7-3-1-6(5-8(7)11)2-4-9(12)13/h1-5,10-11H,(H,12,13)/b4-2+
Standard InChI (Main Layer) InChI=1S/C9H8O4/c10-7-3-1-6(5-8(7)11)2-4-9(12)13/h1-5,10-11H,(H,12,13)

Cluster

Phytochemical cluster No. 6
KCF-S cluster No. 904

Link

ChEMBL

By standard InChI CHEMBL145
By standard InChI Main Layer CHEMBL145 CHEMBL1320034

KEGG

By LinkDB C01481

CTD

By CAS RN

Species

Summary


List (112)

* NCBI
KNApSAcK organism *ID *family *plant class *kingdom
Achillea millefolium 13329 Asteraceae asterids Viridiplantae
Actaea racemosa 64040 Ranunculaceae eudicotyledons Viridiplantae
Adenocaulon adhaerescens 41467 Asteraceae asterids Viridiplantae
Aeschynomene americana 134032 Fabaceae rosids Viridiplantae
Andrographis paniculata 175694 Acanthaceae asterids Viridiplantae
Anthemis nobilis 99037 Asteraceae asterids Viridiplantae
Antitoxicum scanden
Arabidopsis thaliana 3702 Brassicaceae rosids Viridiplantae
Arachis glabrata 212810 Fabaceae rosids Viridiplantae
Arachis hypogaea 3818 Fabaceae rosids Viridiplantae
Artemisia minor 1227633 Asteraceae asterids Viridiplantae
Aruncus diocus 23143 Rosaceae rosids Viridiplantae
Aster salignus 41479 Asteraceae asterids Viridiplantae
Astragalus arguricus 20400 Fabaceae rosids Viridiplantae
Astragalus ciceroides 20400 Fabaceae rosids Viridiplantae
Astragalus flexus 20400 Fabaceae rosids Viridiplantae
Astragalus floccosifolius 20400 Fabaceae rosids Viridiplantae
Astragalus levieri 20400 Fabaceae rosids Viridiplantae
Astragalus onobrychis 1091133 Fabaceae rosids Viridiplantae
Astragalus quisqualis 20400 Fabaceae rosids Viridiplantae
Astragalus saganlugensis 20400 Fabaceae rosids Viridiplantae
Balanophora japonica 1128102 Balanophoraceae eudicotyledons Viridiplantae
Begonia nantoensis 78253 Begoniaceae rosids Viridiplantae
Blechnum orientale 29606 Blechnaceae Euphyllophyta Viridiplantae
Boehmeria holosericea 83905 Urticaceae rosids Viridiplantae
Boehmeria tricuspis 644073 Urticaceae rosids Viridiplantae
Brainea insignis 120713 Blechnaceae Euphyllophyta Viridiplantae
Calligonum leucocladum 1202986 Polygonaceae eudicotyledons Viridiplantae
Centaurea bracteata Scop. 41503 Asteraceae asterids Viridiplantae
Ceratostigma willmottianum 63087 Plumbaginaceae eudicotyledons Viridiplantae
Cicer arietinum 3827 Fabaceae rosids Viridiplantae
Cinchona cuprea 43462 Rubiaceae asterids Viridiplantae
Coffea arabica 13443 Rubiaceae asterids Viridiplantae
Conium maculatum 13447 Apiaceae asterids Viridiplantae
Dichrocephala bicolor 648857 Asteraceae asterids Viridiplantae
Digitalis purpurea 4164 Plantaginaceae asterids Viridiplantae
Dipsacus asper 516548 Caprifoliaceae asterids Viridiplantae
Elsholtzia rugulosa Hemsl. 41225 Lamiaceae asterids Viridiplantae
Equsetum arvense
Eryngium yuccifolium 90460 Apiaceae asterids Viridiplantae
Erythrina variegata 3845 Fabaceae rosids Viridiplantae
Evolvulus alsinoides 439689 Convolvulaceae asterids Viridiplantae
Falcaria vulgaris 52469 Apiaceae asterids Viridiplantae
Forsythia intermedia 55183 Oleaceae asterids Viridiplantae
Glycine max 3847 Fabaceae rosids Viridiplantae
Gossypium barbadense 3634 Malvaceae rosids Viridiplantae
Hibiscus taiwanensis 47605 Malvaceae rosids Viridiplantae
Inonotus obliquus 167356 Hymenochaetaceae Fungi
Lathyrus spp. 3853 Fabaceae rosids Viridiplantae
Leptolaena diospyroidea 217266 Sarcolaenaceae rosids Viridiplantae
Leptolaena pauciflora 217266 Sarcolaenaceae rosids Viridiplantae
Lespedeza bicolor 556514 Fabaceae rosids Viridiplantae
Lotus corniculatus 47247 Fabaceae rosids Viridiplantae
Medicago sativa 3879 Fabaceae rosids Viridiplantae
Melilotus officinalis 47083 Fabaceae rosids Viridiplantae
Mentha piperitae 21819 Lamiaceae asterids Viridiplantae
Monascus pilosus BCRC38072 147546 Elaphomycetaceae Fungi
Onobrychis arenaria 83864 Fabaceae rosids Viridiplantae
Onopordum acanthium 92915 Asteraceae asterids Viridiplantae
Orthosiphon stamineus 260636 Lamiaceae asterids Viridiplantae
Papaver somniferum 3469 Papaveraceae eudicotyledons Viridiplantae
Pellia epiphylla 40340 Pelliaceae Embryophyta Viridiplantae
Perilla frutescens var.acuta. 4136 Lamiaceae asterids Viridiplantae
Pharbitis nil 35883 Convolvulaceae asterids Viridiplantae
Phaseolus vulgaris 3885 Fabaceae rosids Viridiplantae
Phellinus igniarius 40472 Hymenochaetaceae Fungi
Phellodendron japonicum MAXIM 68553 Rutaceae rosids Viridiplantae
Pisum sativum 3888 Fabaceae rosids Viridiplantae
Plantago lanceolata 39414 Plantaginaceae asterids Viridiplantae
Plantago media 101992 Plantaginaceae asterids Viridiplantae
Populus pseudosimonii 3689 Salicaceae rosids Viridiplantae
Posidonia oceanica 55489 Posidoniaceae Liliopsida Viridiplantae
Prunus avium 42229 Rosaceae rosids Viridiplantae
Pteris multifida 170715 Pteridaceae Euphyllophyta Viridiplantae
Pterocaulon virgatum 81513 Asteraceae asterids Viridiplantae
Pueraria phaseoloides 109224 Fabaceae rosids Viridiplantae
Ranunculus baudotii 568534 Ranunculaceae eudicotyledons Viridiplantae
Reseda muricata C.Presl. 26963 Resedaceae rosids Viridiplantae
Rhaponticum carthamoides 362630 Asteraceae asterids Viridiplantae
Rhodiola crenulata (HOOK.f.et Thoms.) H.OHBA 202994 Crassulaceae eudicotyledons Viridiplantae
Rhodiola sachalinensis 265354 Crassulaceae eudicotyledons Viridiplantae
Salvia albimaculata 21880 Lamiaceae asterids Viridiplantae
Salvia bowleyana 424416 Lamiaceae asterids Viridiplantae
Salvia calycina 21880 Lamiaceae asterids Viridiplantae
Salvia chinensis 424420 Lamiaceae asterids Viridiplantae
Salvia horminum 21880 Lamiaceae asterids Viridiplantae
Salvia limbata 21880 Lamiaceae asterids Viridiplantae
Salvia officinalis 38868 Lamiaceae asterids Viridiplantae
Salvia plebeia 424424 Lamiaceae asterids Viridiplantae
Salvia sonchifolia 21880 Lamiaceae asterids Viridiplantae
Salvia triloba 21880 Lamiaceae asterids Viridiplantae
Salvinia molesta D.S.Mitch. 32187 Salviniaceae Euphyllophyta Viridiplantae
Sanicula europaea 71982 Apiaceae asterids Viridiplantae
Sarcolaeana multiflora
Scutellaria albida subsp.albida 4139 Lamiaceae asterids Viridiplantae
Sedum takesimense Nakai 904691 Crassulaceae eudicotyledons Viridiplantae
Sideritis catillaris 155231 Lamiaceae asterids Viridiplantae
Solidago altissima L. 59293 Asteraceae asterids Viridiplantae
Spartium junceum 49843 Fabaceae rosids Viridiplantae
Struthiopteris amabilis
Struthiopteris niponica
Taraxacum formosanum 170733 Asteraceae asterids Viridiplantae
Taraxacum officinale 50225 Asteraceae asterids Viridiplantae
Taxus baccata 25629 Taxaceae Spermatophyta Viridiplantae
Tephrosia candida 587868 Fabaceae rosids Viridiplantae
Tephrosia purpurea 228354 Fabaceae rosids Viridiplantae
Tetrapleura tetraptera 148728 Fabaceae rosids Viridiplantae
Typha domingensis P. 4732 Typhaceae Liliopsida Viridiplantae
Viscum coloratum 3971 Viscaceae eudicotyledons Viridiplantae
Woodwardia orientalis 86683 Blechnaceae Euphyllophyta Viridiplantae
Woodwardia prolifera 120730 Blechnaceae Euphyllophyta Viridiplantae
Xanthium strumarium 318068 Asteraceae asterids Viridiplantae

Human Protein / Gene in interaction

68 ChEMBL Protein in interactions

accession description class description compound assay ID (# of activities) # of diseases
(OMIM / KEGG)
P10635 Cytochrome P450 2D6 Cytochrome P450 2D6 CHEMBL1320034 CHEMBL1741321 (1)
1 / 0
P18031 Tyrosine-protein phosphatase non-receptor type 1 Tyr CHEMBL145 CHEMBL898096 (1) CHEMBL1101618 (1)
0 / 0
P17516 Aldo-keto reductase family 1 member C4 Enzyme CHEMBL145 CHEMBL2038591 (1)
1 / 0
Q9UIF8 Bromodomain adjacent to zinc finger domain protein 2B Unclassified protein CHEMBL145 CHEMBL1738312 (1)
0 / 0
O60218 Aldo-keto reductase family 1 member B10 Enzyme CHEMBL145 CHEMBL1942331 (1)
0 / 0
P09917 Arachidonate 5-lipoxygenase Oxidoreductase CHEMBL145 CHEMBL618101 (1) CHEMBL618107 (1)
CHEMBL1033189 (1)
0 / 0
P35354 Prostaglandin G/H synthase 2 Oxidoreductase CHEMBL145 CHEMBL763078 (1) CHEMBL1014033 (1)
CHEMBL1014036 (1) CHEMBL2016146 (1)
0 / 3
Q12809 Potassium voltage-gated channel subfamily H member 2 KCNH, Kv10-12.x (Ether-a-go-go) CHEMBL145 CHEMBL1794573 (1)
2 / 2
Q13093 Platelet-activating factor acetylhydrolase Enzyme CHEMBL145 CHEMBL1032505 (1)
3 / 0
P06746 DNA polymerase beta Enzyme CHEMBL145 CHEMBL1614079 (1)
0 / 0
P10253 Lysosomal alpha-glucosidase Hydrolase CHEMBL145 CHEMBL1614175 (1) CHEMBL1614076 (1)
1 / 1
Q9Y2D0 Carbonic anhydrase 5B, mitochondrial Lyase CHEMBL145 CHEMBL1074270 (1)
0 / 0
P35218 Carbonic anhydrase 5A, mitochondrial Lyase CHEMBL145 CHEMBL1074269 (1)
0 / 0
P43166 Carbonic anhydrase 7 Lyase CHEMBL145 CHEMBL1074272 (1)
0 / 0
Q06124 Tyrosine-protein phosphatase non-receptor type 11 Tyr CHEMBL145 CHEMBL1918617 (1)
4 / 2
P14780 Matrix metalloproteinase-9 M10A CHEMBL145 CHEMBL2338833 (1) CHEMBL2338836 (1)
2 / 2
P02545 Prelamin-A/C Unclassified protein CHEMBL145 CHEMBL1614544 (1)
11 / 10
P16473 Thyrotropin receptor Glycohormone receptor CHEMBL1320034 CHEMBL1614281 (1) CHEMBL1614361 (2)
3 / 2
P47989 Xanthine dehydrogenase/oxidase Oxidoreductase CHEMBL145 CHEMBL845695 (1)
1 / 1
P10828 Thyroid hormone receptor beta NR1A2 CHEMBL145 CHEMBL1613776 (1)
3 / 1
P00918 Carbonic anhydrase 2 Lyase CHEMBL145 CHEMBL1074266 (1)
1 / 2
P51452 Dual specificity protein phosphatase 3 Ser_Thr_Tyr CHEMBL145 CHEMBL1918613 (1)
0 / 0
P11712 Cytochrome P450 2C9 Cytochrome P450 2C9 CHEMBL1320034 CHEMBL1614027 (1) CHEMBL1741325 (1)
0 / 1
Q9GZT9 Egl nine homolog 1 Enzyme CHEMBL145 CHEMBL2318585 (1)
1 / 1
P00533 Epidermal growth factor receptor TK tyrosine-protein kinase EGFR subfamily CHEMBL145 CHEMBL674643 (1) CHEMBL675636 (1)
CHEMBL941404 (1)
1 / 11
P23219 Prostaglandin G/H synthase 1 Oxidoreductase CHEMBL145 CHEMBL763078 (1) CHEMBL2016145 (1)
0 / 0
P23280 Carbonic anhydrase 6 Lyase CHEMBL145 CHEMBL1074271 (1)
0 / 0
Q9ULX7 Carbonic anhydrase 14 Lyase CHEMBL145 CHEMBL1074276 (1)
0 / 0
P00352 Retinal dehydrogenase 1 Enzyme CHEMBL145 CHEMBL1614458 (2)
0 / 0
O43570 Carbonic anhydrase 12 Lyase CHEMBL145 CHEMBL1074274 (1)
1 / 2
Q16665 Hypoxia-inducible factor 1-alpha Transcription Factor CHEMBL1320034 CHEMBL1614456 (1) CHEMBL1613803 (1)
0 / 0
P42330 Aldo-keto reductase family 1 member C3 Enzyme CHEMBL145 CHEMBL2038590 (1)
0 / 0
Q8TDS4 Hydroxycarboxylic acid receptor 2 Hydroxycarboxylic acid receptor CHEMBL145 CHEMBL1772554 (1)
0 / 0
P15121 Aldose reductase Enzyme CHEMBL145 CHEMBL1942330 (1)
0 / 0
P00915 Carbonic anhydrase 1 Lyase CHEMBL145 CHEMBL1074265 (1)
0 / 0
P03956 Interstitial collagenase M10A CHEMBL145 CHEMBL2338838 (1)
0 / 1
P14679 Tyrosinase Oxidoreductase CHEMBL145 CHEMBL870666 (1)
4 / 2
P06280 Alpha-galactosidase A Enzyme CHEMBL145 CHEMBL1614217 (1)
1 / 1
P35236 Tyrosine-protein phosphatase non-receptor type 7 Tyr CHEMBL145 CHEMBL1918616 (1)
0 / 0
P28482 Mitogen-activated protein kinase 1 Erk CHEMBL145 CHEMBL1614521 (2)
0 / 0
P05177 Cytochrome P450 1A2 Cytochrome P450 1A2 CHEMBL1320034 CHEMBL1741322 (1)
0 / 0
Q16790 Carbonic anhydrase 9 Lyase CHEMBL145 CHEMBL1074273 (1)
0 / 1
P08253 72 kDa type IV collagenase M10A CHEMBL145 CHEMBL2338837 (1)
1 / 3
Q99714 3-hydroxyacyl-CoA dehydrogenase type-2 Enzyme CHEMBL145 CHEMBL1320034 CHEMBL1613910 (2) CHEMBL1614227 (4)
3 / 3
Q04828 Aldo-keto reductase family 1 member C1 Enzyme CHEMBL145 CHEMBL2038588 (1)
0 / 0
P15428 15-hydroxyprostaglandin dehydrogenase [NAD(+)] Enzyme CHEMBL145 CHEMBL1614038 (3)
2 / 2
Q01453 Peripheral myelin protein 22 Unclassified protein CHEMBL145 CHEMBL1614171 (1)
5 / 2
P03372 Estrogen receptor NR3A1 CHEMBL145 CHEMBL1941568 (1) CHEMBL1941569 (1)
1 / 1
P19838 Nuclear factor NF-kappa-B p105 subunit Transcription Factor CHEMBL145 CHEMBL1614274 (1) CHEMBL1613823 (1)
0 / 0
P33261 Cytochrome P450 2C19 Cytochrome P450 2C19 CHEMBL1320034 CHEMBL1741323 (1)
1 / 1
P08684 Cytochrome P450 3A4 Cytochrome P450 3A4 CHEMBL145 CHEMBL1320034 CHEMBL1614108 (1) CHEMBL1613886 (1)
CHEMBL1741324 (1)
0 / 1
P52895 Aldo-keto reductase family 1 member C2 Enzyme CHEMBL145 CHEMBL2038589 (1)
1 / 0
O75164 Lysine-specific demethylase 4A Enzyme CHEMBL145 CHEMBL1737991 (1)
0 / 0
P27695 DNA-(apurinic or apyrimidinic site) lyase Enzyme CHEMBL145 CHEMBL1614466 (1) CHEMBL1614211 (4)
0 / 0
P10636 Microtubule-associated protein tau Unclassified protein CHEMBL145 CHEMBL1614421 (3)
4 / 3
P07451 Carbonic anhydrase 3 Lyase CHEMBL145 CHEMBL1074267 (1)
0 / 0
P22748 Carbonic anhydrase 4 Lyase CHEMBL145 CHEMBL1074268 (1)
1 / 1
Q12794 Hyaluronidase-1 Enzyme CHEMBL145 CHEMBL1111859 (1)
1 / 2
Q9UBT6 DNA polymerase kappa Enzyme CHEMBL145 CHEMBL1794536 (2)
0 / 0
P24298 Alanine aminotransferase 1 Enzyme CHEMBL145 CHEMBL1020961 (1)
0 / 0
B2RXH2 Lysine-specific demethylase 4E Enzyme CHEMBL145 CHEMBL1320034 CHEMBL1613914 (6)
0 / 0
Q96KQ7 Histone-lysine N-methyltransferase EHMT2 Enzyme CHEMBL145 CHEMBL1320034 CHEMBL1738442 (4)
0 / 0
Q9NUW8 Tyrosyl-DNA phosphodiesterase 1 Enzyme CHEMBL145 CHEMBL1614364 (3)
1 / 1
O00255 Menin Unclassified protein CHEMBL145 CHEMBL1614257 (1) CHEMBL1614531 (1)
2 / 5
Q03164 Histone-lysine N-methyltransferase 2A Enzyme CHEMBL145 CHEMBL1614257 (1) CHEMBL1614531 (1)
1 / 3
P07900 Heat shock protein HSP 90-alpha Other cytosolic protein CHEMBL145 CHEMBL1613874 (1)
0 / 0
P08238 Heat shock protein HSP 90-beta Other cytosolic protein CHEMBL145 CHEMBL1613874 (1)
0 / 0
O94925 Glutaminase kidney isoform, mitochondrial Enzyme CHEMBL145 CHEMBL2114738 (1)
0 / 0

Related Disease

Diseases related to proteins in ChEMBL interactions

OMIM (64)

OMIM preferred title UniProt
#300438 17-beta-hydroxysteroid dehydrogenase x deficiency Q99714
#614279 46,xy sex reversal 8; srxy8 P17516
P52895
#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
#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
#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
#609820 Erythrocytosis, familial, 3; ecyt3 Q9GZT9
#615363 Estrogen resistance; estrr P03372
#301500 Fabry disease P06280
#600274 Frontotemporal dementia; ftd P10636
#232300 Glycogen storage disease ii P10253
#139393 Guillain-barre syndrome, familial; gbs Q01453
#605130 Hairy elbows, short stature, facial dysmorphism, and developmental delay Q03164
#610140 Heart-hand syndrome, slovenian type P02545
#176670 Hutchinson-gilford progeria syndrome; hgps P02545
#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
#275200 Hypothyroidism, congenital, nongoitrous, 1; chng1 P16473
#147050 Ige responsiveness, atopic; iger Q13093
#603932 Intervertebral disc disease; idd P14780
#607785 Juvenile myelomonocytic leukemia; jmml Q06124
#151100 Leopard syndrome 1 Q06124
#151660 Lipodystrophy, familial partial, type 2; fpld2 P02545
#613688 Long qt syndrome 2; lqt2 Q12809
#211980 Lung cancer P00533
#248370 Mandibuloacral dysplasia with type a lipodystrophy; mada P02545
#300705 Mental retardation, x-linked 17; mrx17 Q99714
#300220 Mental retardation, x-linked, syndromic 10; mrxs10 Q99714
#156250 Metachondromatosis; metcds Q06124
#613073 Metaphyseal anadysplasia 2; mandp2 P14780
#601492 Mucopolysaccharidosis, type ix; mps9 Q12794
#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
#162500 Neuropathy, hereditary, with liability to pressure palsies; hnpp Q01453
#163950 Noonan syndrome 1; ns1 Q06124
#259730 Osteopetrosis, autosomal recessive 3; optb3 P00918
#260540 Parkinson-dementia syndrome P10636
#172700 Pick disease of brain P10636
#614278 Platelet-activating factor acetylhydrolase deficiency; pafad Q13093
#275210 Restrictive dermopathy, lethal P02545
#600852 Retinitis pigmentosa 17; rp17 P22748
#609620 Short qt syndrome 1; sqt1 Q12809
#601800 Skin/hair/eye pigmentation, variation in, 3; shep3 P14679
#607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1 Q9NUW8
#601104 Supranuclear palsy, progressive, 1; psnp1 P10636
#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
#278300 Xanthinuria, type i P47989

KEGG DISEASE (63)

KEGG disease 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)
Q16790 (marker)
H00016 Oral cancer P00533 (related)
P00533 (marker)
H00017 Esophageal cancer P00533 (related)
P35354 (related)
H00018 Gastric cancer P00533 (related)
H00022 Bladder cancer P00533 (related)
H00028 Choriocarcinoma P00533 (related)
P03956 (related)
P08253 (related)
H00030 Cervical cancer P00533 (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)
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)
H00125 Fabry disease P06280 (related)
H00025 Penile cancer P08253 (related)
P14780 (related)
P35354 (related)
H00472 Torg-Winchester syndrome P08253 (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)
H00249 Thyroid hormone resistance syndrome P10828 (related)
H01205 Coumarin resistance P11712 (related)
H00168 Oculocutaneous albinism (OCA) P14679 (related)
H00038 Malignant melanoma P14679 (marker)
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)
H00527 Retinitis pigmentosa (RP) P22748 (related)
H01171 Poor drug metabolism (PM) P33261 (related)
H00046 Cholangiocarcinoma P35354 (related)
H00192 Xanthinuria P47989 (related)
H01296 Hereditary neuropathy with liability to pressure palsies (HNPP) Q01453 (related)
H00001 Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Q03164 (related)
Q03164 (marker)
H00002 Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) Q03164 (related)
H00523 Noonan syndrome and related disorders Q06124 (related)
H01018 Metachondromatosis Q06124 (related)
H00133 Mucopolysaccharidosis type IX (MPS9) Q12794 (related)
H00421 Mucopolysaccharidosis (MPS) Q12794 (related)
H00720 Long QT syndrome Q12809 (related)
H00725 Short QT syndrome Q12809 (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)
H00236 Congenital polycythemia Q9GZT9 (related)
H00063 Spinocerebellar ataxia (SCA) Q9NUW8 (related)