Species

KNApSAcK Entry

Organism name Chrysanthemum leucanthemum
Genus Chrysanthemum
Family Asteraceae
Kingdom Plantae

NCBI taxonomy

Entry

Linked NCBI taxonomy name Leucanthemum vulgare
Linked NCBI taxonomy ID 99072
Linked level species

Family

Family in NCBI taxonomy Asteraceae
ID 4210

Kingdom (Superkingdom)

Kingdom (Superkingdom) in NCBI taxonomy Viridiplantae
ID 33090

Plant class

Plant class asterids
ID 71274

Metabolite list (3)

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
C00003820 External link 512 Acacetin
/ Apigenin 4'-methyl ether
/ 5,7-Dihydroxy-4'-methoxyflavone
CHEMBL243664
C023717
37 / 55 / 72 5 / 0 No. 3 No. 15
C00002499 External link 512 Scopoletin
CHEMBL71851
D012603
48 / 37 / 34 9 / 0 No. 864 No. 25
C00000258 External link 512 2,6-Dimethoxy-p-benzoquinone
CHEMBL448515
C030511
22 / 32 / 55 No. 2517

Human Protein / Gene in interactions

83 ChEMBL Protein in interactions

accession description class description KNApSAcK metabolite in interactions # of diseases
(OMIM / KEGG)
Q03164 Histone-lysine N-methyltransferase 2A Enzyme C00000258 C00002499 C00003820 1 / 2
P08684 Cytochrome P450 3A4 Cytochrome P450 3A4 C00000258 C00002499 C00003820 0 / 1
O00255 Menin Unclassified protein C00000258 C00002499 C00003820 2 / 5
Q99700 Ataxin-2 Unclassified protein C00000258 C00002499 C00003820 1 / 1
P33261 Cytochrome P450 2C19 Cytochrome P450 2C19 C00002499 C00003820 1 / 1
P10636 Microtubule-associated protein tau Unclassified protein C00000258 C00003820 4 / 3
Q16637 Survival motor neuron protein Unclassified protein C00000258 C00003820 4 / 1
Q9UNA4 DNA polymerase iota Enzyme C00000258 C00003820 0 / 0
P04637 Cellular tumor antigen p53 Transcription Factor C00000258 C00003820 7 / 37
P10635 Cytochrome P450 2D6 Cytochrome P450 2D6 C00002499 C00003820 1 / 0
B2RXH2 Lysine-specific demethylase 4E Enzyme C00000258 C00002499 0 / 0
P05177 Cytochrome P450 1A2 Cytochrome P450 1A2 C00002499 C00003820 0 / 0
P28482 Mitogen-activated protein kinase 1 Erk C00000258 C00003820 0 / 0
P63092 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short Other membrane protein C00000258 C00002499 7 / 3
O75496 Geminin Unclassified protein C00000258 C00002499 0 / 0
P84022 Mothers against decapentaplegic homolog 3 Unclassified protein C00000258 C00003820 2 / 0
Q16665 Hypoxia-inducible factor 1-alpha Transcription Factor C00002499 C00003820 0 / 0
P00352 Retinal dehydrogenase 1 Enzyme C00002499 C00003820 0 / 0
P11712 Cytochrome P450 2C9 Cytochrome P450 2C9 C00002499 C00003820 0 / 1
O75604 Ubiquitin carboxyl-terminal hydrolase 2 Enzyme C00000258 C00003820 0 / 0
Q9Y4X1 UDP-glucuronosyltransferase 2A1 Enzyme C00002499 0 / 0
P55789 FAD-linked sulfhydryl oxidase ALR Enzyme C00002499 1 / 0
P47989 Xanthine dehydrogenase/oxidase Oxidoreductase C00002499 1 / 1
P00918 Carbonic anhydrase 2 Lyase C00002499 1 / 2
P04798 Cytochrome P450 1A1 Cytochrome P450 1A1 C00003820 0 / 0
Q8N1Q1 Carbonic anhydrase 13 Lyase C00002499 0 / 0
P00533 Epidermal growth factor receptor TK tyrosine-protein kinase EGFR subfamily C00003820 1 / 8
P11473 Vitamin D3 receptor NR1I1 C00000258 2 / 3
Q9Y3R4 Sialidase-2 Enzyme C00003820 0 / 0
Q13526 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 Enzyme C00002499 0 / 0
O43570 Carbonic anhydrase 12 Lyase C00002499 1 / 2
Q03181 Peroxisome proliferator-activated receptor delta NR1C2 C00003820 0 / 0
P39748 Flap endonuclease 1 Enzyme C00000258 0 / 0
Q92830 Histone acetyltransferase KAT2A Enzyme C00002499 0 / 0
P04406 Glyceraldehyde-3-phosphate dehydrogenase Enzyme C00002499 0 / 0
P29466 Caspase-1 C14 C00002499 0 / 0
P51151 Ras-related protein Rab-9A Unclassified protein C00003820 0 / 0
O60656 UDP-glucuronosyltransferase 1-9 Enzyme C00002499 0 / 0
P38398 Breast cancer type 1 susceptibility protein Enzyme C00003820 4 / 2
P54855 UDP-glucuronosyltransferase 2B15 Enzyme C00002499 0 / 0
P15121 Aldose reductase Enzyme C00002499 0 / 0
P00915 Carbonic anhydrase 1 Lyase C00002499 0 / 0
P43220 Glucagon-like peptide 1 receptor Glucagon-like peptide receptor C00000258 0 / 0
P43166 Carbonic anhydrase 7 Lyase C00002499 0 / 0
Q04206 Transcription factor p65 Transcription Factor C00002499 0 / 0
P83916 Chromobox protein homolog 1 Unclassified protein C00000258 0 / 0
P04150 Glucocorticoid receptor NR3C1 C00003820 0 / 1
P37231 Peroxisome proliferator-activated receptor gamma NR1C3 C00003820 5 / 3
Q16678 Cytochrome P450 1B1 Cytochrome P450 1B1 C00003820 4 / 4
P06280 Alpha-galactosidase A Enzyme C00002499 1 / 1
P04745 Alpha-amylase 1 Enzyme C00003820 0 / 0
P50750 Cyclin-dependent kinase 9 Cdk9 C00003820 0 / 0
P10253 Lysosomal alpha-glucosidase Hydrolase C00002499 1 / 1
P04062 Glucosylceramidase Enzyme C00002499 6 / 4
Q16790 Carbonic anhydrase 9 Lyase C00002499 0 / 1
Q99714 3-hydroxyacyl-CoA dehydrogenase type-2 Enzyme C00002499 3 / 3
Q9UNQ0 ATP-binding cassette sub-family G member 2 ATP binding cassette C00003820 2 / 0
P15428 15-hydroxyprostaglandin dehydrogenase [NAD(+)] Enzyme C00002499 2 / 2
O15118 Niemann-Pick C1 protein Unclassified protein C00003820 1 / 1
Q96QE3 ATPase family AAA domain-containing protein 5 Unclassified protein C00003820 0 / 0
Q9HAW9 UDP-glucuronosyltransferase 1-8 Enzyme C00002499 0 / 0
P02545 Prelamin-A/C Unclassified protein C00003820 11 / 10
P22303 Acetylcholinesterase Hydrolase C00002499 1 / 0
Q00796 Sorbitol dehydrogenase Enzyme C00002499 0 / 0
P55210 Caspase-7 C14 C00002499 0 / 0
P35354 Prostaglandin G/H synthase 2 Oxidoreductase C00002499 0 / 3
P09917 Arachidonate 5-lipoxygenase Oxidoreductase C00002499 0 / 0
Q9HAW8 UDP-glucuronosyltransferase 1-10 Enzyme C00002499 0 / 0
P22309 UDP-glucuronosyltransferase 1-1 Enzyme C00002499 5 / 1
P49336 Cyclin-dependent kinase 8 Cdk8 C00003820 0 / 0
Q16236 Nuclear factor erythroid 2-related factor 2 Unclassified protein C00000258 0 / 0
P10275 Androgen receptor NR3C4 C00003820 3 / 4
Q07869 Peroxisome proliferator-activated receptor alpha NR1C1 C00003820 0 / 0
O75795 UDP-glucuronosyltransferase 2B17 Enzyme C00002499 1 / 0
P46063 ATP-dependent DNA helicase Q1 Enzyme C00002499 0 / 0
Q2TB90 Putative hexokinase HKDC1 Enzyme C00000258 0 / 0
Q96KQ7 Histone-lysine N-methyltransferase EHMT2 Enzyme C00002499 0 / 0
Q9NUW8 Tyrosyl-DNA phosphodiesterase 1 Enzyme C00003820 1 / 1
O75874 Isocitrate dehydrogenase [NADP] cytoplasmic Enzyme C00000258 1 / 0
P18031 Tyrosine-protein phosphatase non-receptor type 1 Tyr C00002499 0 / 0
P22310 UDP-glucuronosyltransferase 1-4 Enzyme C00002499 3 / 0
Q14191 Werner syndrome ATP-dependent helicase Enzyme C00000258 2 / 1
Q13148 TAR DNA-binding protein 43 Unclassified protein C00003820 1 / 1

14 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) C00003820
1544 CYP1A2, CP12, P3-450, P450(PA) cytochrome P450, family 1, subfamily A, polypeptide 2 (EC:1.14.14.1) C00003820
1545 CYP1B1, CP1B, CYPIB1, GLC3A, P4501B1 cytochrome P450, family 1, subfamily B, polypeptide 1 (EC:1.14.14.1) C00003820
1559 CYP2C9, CPC9, CYP2C, CYP2C10, CYPIIC9, P450IIC9 cytochrome P450, family 2, subfamily C, polypeptide 9 (EC:1.14.13.48 1.14.13.49 1.14.13.80) C00003820
1576 CYP3A4, CP33, CP34, CYP3A, CYP3A3, CYPIIIA3, CYPIIIA4, HLP, NF-25, P450C3, P450PCN1 cytochrome P450, family 3, subfamily A, polypeptide 4 (EC:1.14.13.67 1.14.13.97 1.14.13.32 1.14.13.157) C00003820
54658 UGT1A1, BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT_1-1, UGT1, UGT1A UDP glucuronosyltransferase 1 family, polypeptide A1 (EC:2.4.1.17) C00002499
54575 UGT1A10, UDPGT, UGT-1J, UGT1-10, UGT1.10, UGT1J UDP glucuronosyltransferase 1 family, polypeptide A10 (EC:2.4.1.17) C00002499
54659 UGT1A3, UDPGT, UDPGT_1-3, UGT-1C, UGT1-03, UGT1.3, UGT1C UDP glucuronosyltransferase 1 family, polypeptide A3 (EC:2.4.1.17) C00002499
54578 UGT1A6, GNT1, HLUGP, HLUGP1, UDPGT, UDPGT_1-6, UGT1, UGT1A6S, UGT1F UDP glucuronosyltransferase 1 family, polypeptide A6 (EC:2.4.1.17) C00002499
54577 UGT1A7, UDPGT, UDPGT_1-7, UGT-1G, UGT1-07, UGT1.7, UGT1G UDP glucuronosyltransferase 1 family, polypeptide A7 (EC:2.4.1.17) C00002499
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) C00002499
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) C00002499
7366 UGT2B15, HLUG4, UDPGT_2B8, UDPGT2B15, UDPGTH3, UGT2B8 UDP glucuronosyltransferase 2 family, polypeptide B15 (EC:2.4.1.17) C00002499
7508 XPC, RAD4, XP3, XPCC xeroderma pigmentosum, complementation group C C00002499

Related Diseases

Diseases related to proteins in ChEMBL interactions

OMIM (89)

OMIM preferred title UniProt
#300438 17-beta-hydroxysteroid dehydrogenase x deficiency Q99714
#219080 Acth-independent macronodular adrenal hyperplasia; aimah P63092
#202300 Adrenocortical carcinoma, hereditary; adcc P04637
#612069 Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia; als10 Q13148
#300068 Androgen insensitivity syndrome; ais P10275
#312300 Androgen insensitivity, partial; pais P10275
#614740 Basal cell carcinoma, susceptibility to, 7; bcc7 P04637
#601816 Bilirubin, serum level of, quantitative trait locus 1; biliqtl1 P22309
#614490 Blood group, junior system; jr Q9UNQ0
%606641 Body mass index; bmi P37231
#612560 Bone mineral density quantitative trait locus 12; bmnd12 O75795
#114480 Breast cancer P38398
#604370 Breast-ovarian cancer, familial, susceptibility to, 1; brovca1 P38398
#115200 Cardiomyopathy, dilated, 1a; cmd1a P02545
#212112 Cardiomyopathy, dilated, with hypergonadotropic hypogonadism P02545
#609338 Carotid intimal medial thickness 1 P37231
#605588 Charcot-marie-tooth disease, axonal, type 2b1; cmt2b1 P02545
#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
#181350 Emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2 P02545
#133239 Esophageal cancer P04637
#301500 Fabry disease P06280
#600274 Frontotemporal dementia; ftd P10636
#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
#143500 Gilbert syndrome P22309
P22310
#137750 Glaucoma 1, open angle, a; glc1a Q16678
#231300 Glaucoma 3, primary congenital, a; glc3a Q16678
#137760 Glaucoma, primary open angle; poag Q16678
#137800 Glioma susceptibility 1; glm1 O75874
P37231
#232300 Glycogen storage disease ii P10253
#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
#237900 Hyperbilirubinemia, transient familial neonatal; hblrtfn P22309
#143860 Hyperchlorhidrosis, isolated O43570
#145000 Hyperparathyroidism 1; hrpt1 O00255
#259100 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1 P15428
#151623 Li-fraumeni syndrome 1; lfs1 P04637
#151660 Lipodystrophy, familial partial, type 2; fpld2 P02545
#604367 Lipodystrophy, familial partial, type 3; fpld3 P37231
#613795 Loeys-dietz syndrome, type 3; lds3 P84022
#211980 Lung cancer P00533
P04637
#248370 Mandibuloacral dysplasia with type a lipodystrophy; mada P02545
#174800 Mccune-albright syndrome; mas P63092
#300705 Mental retardation, x-linked 17; mrx17 Q99714
#300220 Mental retardation, x-linked, syndromic 10; mrxs10 Q99714
#131100 Multiple endocrine neoplasia, type i; men1 O00255
#613205 Muscular dystrophy, congenital, lmna-related P02545
#159001 Muscular dystrophy, limb-girdle, type 1b; lgmd1b P02545
#607948 Mycobacterium tuberculosis, susceptibility to P11473
#613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay P55789
#257220 Niemann-pick disease, type c1; npc1 O15118
#601665 Obesity P37231
#166350 Osseous heteroplasia, progressive; poh P63092
#259730 Osteopetrosis, autosomal recessive 3; optb3 P00918
#167000 Ovarian cancer P38398
#614320 Pancreatic cancer, susceptibility to, 4; pnca4 P38398
#260500 Papilloma of choroid plexus; cpp P04637
#168600 Parkinson disease, late-onset; pd P04062
#260540 Parkinson-dementia syndrome P10636
#604229 Peters anomaly Q16678
#172700 Pick disease of brain P10636
#102200 Pituitary adenoma, growth hormone-secreting P63092
#103580 Pseudohypoparathyroidism, type ia; php1a P63092
#603233 Pseudohypoparathyroidism, type ib; php1b P63092
#612462 Pseudohypoparathyroidism, type ic; php1c P63092
#275210 Restrictive dermopathy, lethal P02545
#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
#138900 Uric acid concentration, serum, quantitative trait locus 1; uaqtl1 Q9UNQ0
#277440 Vitamin d-dependent rickets, type 2a; vddr2a P11473
#277700 Werner syndrome; wrn Q14191
#278300 Xanthinuria, type i P47989
#112100 Yt blood group antigen P22303

KEGG DISEASE (95)

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)
H01302 Hyperchlorhidrosis isolated (HCHLH) O43570 (related)
H00021 Renal cell carcinoma O43570 (marker)
P04637 (marker)
Q16790 (marker)
H00016 Oral cancer P00533 (related)
P00533 (marker)
P04637 (related)
P04637 (marker)
H00017 Esophageal cancer P00533 (related)
P04637 (related)
P04637 (marker)
P35354 (related)
H00018 Gastric cancer P00533 (related)
P04637 (related)
H00022 Bladder cancer P00533 (related)
P04637 (related)
H00028 Choriocarcinoma P00533 (related)
P04637 (related)
H00030 Cervical cancer P00533 (related)
H00042 Glioma P00533 (related)
P00533 (marker)
P04637 (related)
P04637 (marker)
H00055 Laryngeal cancer P00533 (related)
P00533 (marker)
P04637 (related)
P04637 (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)
P37231 (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)
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)
H00004 Chronic myeloid leukemia (CML) P04637 (related)
H00005 Chronic lymphocytic leukemia (CLL) P04637 (related)
H00006 Hairy-cell leukemia P04637 (related)
H00008 Burkitt lymphoma P04637 (related)
H00009 Adult T-cell leukemia P04637 (related)
H00010 Multiple myeloma P04637 (related)
H00013 Small cell lung cancer P04637 (related)
H00014 Non-small cell lung cancer P04637 (related)
H00015 Malignant pleural mesothelioma P04637 (related)
H00019 Pancreatic cancer P04637 (related)
P04637 (marker)
H00020 Colorectal cancer P04637 (related)
P04637 (marker)
H00025 Penile cancer P04637 (related)
P04637 (marker)
P35354 (related)
H00026 Endometrial Cancer P04637 (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)
P37231 (related)
H00036 Osteosarcoma P04637 (related)
P08684 (marker)
H00038 Malignant melanoma P04637 (related)
H00039 Basal cell carcinoma P04637 (related)
H00040 Squamous cell carcinoma P04637 (related)
H00041 Kaposi's sarcoma P04637 (related)
H00044 Cancer of the anal canal P04637 (related)
H00046 Cholangiocarcinoma P04637 (related)
P35354 (related)
H00047 Gallbladder cancer P04637 (related)
H00048 Hepatocellular carcinoma P04637 (related)
H00881 Li-Fraumeni syndrome P04637 (related)
H01007 Choroid plexus papilloma P04637 (related)
H00125 Fabry disease P06280 (related)
H00069 Glycogen storage diseases (GSD) P10253 (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)
H00342 Tuberculosis P11473 (related)
H00784 Localized autosomal recessive hypotrichosis P11473 (related)
H01143 Vitamin D-dependent rickets P11473 (related)
H01205 Coumarin resistance P11712 (related)
H00457 Primary hypertrophic osteoarthropathy (PHO) P15428 (related)
H01246 Isolated congenital nail clubbing (ICNC) P15428 (related)
H00208 Hyperbilirubinemia P22309 (related)
H01171 Poor drug metabolism (PM) P33261 (related)
H00409 Type II diabetes mellitus P37231 (related)
H00192 Xanthinuria P47989 (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) Q03164 (related)
Q03164 (marker)
H00002 Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) Q03164 (related)
H00296 Defects in RecQ helicases Q14191 (related)
H00455 Spinal muscular atrophy (SMA) Q16637 (related)
H00612 Primary open angle glaucoma Q16678 (related)
H01075 Peters anomaly Q16678 (related)
H01159 Anterior segment dysgenesis (ASD) Q16678 (related)
H01203 Primary congenital glaucoma (PCG) Q16678 (related)
H00063 Spinocerebellar ataxia (SCA) Q99700 (related)
Q9NUW8 (related)
H00480 Non-syndromic X-linked mental retardation Q99714 (related)
H00658 Syndromic X-linked mental retardation Q99714 (related)
H00925 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency Q99714 (related)