Metabolite

KNApSAcK Entry

id C00001040
Name Flavone
CAS RN 525-82-6
Standard InChI InChI=1S/C15H10O2/c16-13-10-15(11-6-2-1-3-7-11)17-14-9-5-4-8-12(13)14/h1-10H
Standard InChI (Main Layer) InChI=1S/C15H10O2/c16-13-10-15(11-6-2-1-3-7-11)17-14-9-5-4-8-12(13)14/h1-10H

Cluster

Phytochemical cluster No. 15
KCF-S cluster No. 76

Link

ChEMBL

By standard InChI CHEMBL275638
By standard InChI Main Layer CHEMBL275638

KEGG

By LinkDB C10043

CTD

By CAS RN C043562

Human Protein / Gene in interaction

58 ChEMBL Protein in interactions

accession description class description compound assay ID (# of activities) # of diseases
(OMIM / KEGG)
P14061 Estradiol 17-beta-dehydrogenase 1 Enzyme CHEMBL275638 CHEMBL957998 (1) CHEMBL957999 (1)
0 / 0
P04637 Cellular tumor antigen p53 Transcription Factor CHEMBL275638 CHEMBL1613995 (1)
7 / 44
Q16637 Survival motor neuron protein Unclassified protein CHEMBL275638 CHEMBL1613842 (1)
4 / 2
P27338 Amine oxidase [flavin-containing] B Oxidoreductase CHEMBL275638 CHEMBL1071598 (1)
0 / 0
P33765 Adenosine receptor A3 Adenosine receptor CHEMBL275638 CHEMBL638578 (1) CHEMBL641515 (1)
CHEMBL649050 (1)
0 / 0
P78527 DNA-dependent protein kinase catalytic subunit Atypical serine/threonine protein kinase PIKK subfamily CHEMBL275638 CHEMBL827974 (1)
0 / 0
Q03181 Peroxisome proliferator-activated receptor delta NR1C2 CHEMBL275638 CHEMBL1794552 (1)
0 / 0
P62158 Calmodulin Unclassified protein CHEMBL275638 CHEMBL1647727 (2) CHEMBL1647728 (1)
1 / 0
O95271 Tankyrase-1 Enzyme CHEMBL275638 CHEMBL2341188 (2)
0 / 0
P10828 Thyroid hormone receptor beta NR1A2 CHEMBL275638 CHEMBL1794561 (1)
3 / 1
P19793 Retinoic acid receptor RXR-alpha NR2B1 CHEMBL275638 CHEMBL1794371 (1) CHEMBL1794471 (1)
0 / 0
P00918 Carbonic anhydrase 2 Lyase CHEMBL275638 CHEMBL2019838 (1) CHEMBL2019839 (1)
1 / 2
P21397 Amine oxidase [flavin-containing] A Oxidoreductase CHEMBL275638 CHEMBL1071594 (1)
1 / 1
P08183 Multidrug resistance protein 1 drug CHEMBL275638 CHEMBL1827948 (1)
1 / 0
P00533 Epidermal growth factor receptor TK tyrosine-protein kinase EGFR subfamily CHEMBL275638 CHEMBL941404 (1)
1 / 11
P11388 DNA topoisomerase 2-alpha Isomerase CHEMBL275638 CHEMBL1014691 (1)
0 / 0
P28845 Corticosteroid 11-beta-dehydrogenase isozyme 1 Enzyme CHEMBL275638 CHEMBL1168908 (1)
1 / 1
O43570 Carbonic anhydrase 12 Lyase CHEMBL275638 CHEMBL2019842 (1) CHEMBL2019843 (1)
1 / 2
O75496 Geminin Unclassified protein CHEMBL275638 CHEMBL2114843 (1) CHEMBL2114780 (1)
0 / 0
P51151 Ras-related protein Rab-9A Unclassified protein CHEMBL275638 CHEMBL1613838 (1)
0 / 0
P10145 Interleukin-8 Secreted protein CHEMBL275638 CHEMBL2114835 (1)
0 / 0
P00915 Carbonic anhydrase 1 Lyase CHEMBL275638 CHEMBL2019836 (1) CHEMBL2019837 (1)
0 / 0
P09874 Poly [ADP-ribose] polymerase 1 Enzyme CHEMBL275638 CHEMBL2341185 (2)
0 / 0
P43220 Glucagon-like peptide 1 receptor Glucagon-like peptide receptor CHEMBL275638 CHEMBL2114788 (1) CHEMBL2114931 (1)
0 / 0
Q12791 Calcium-activated potassium channel subunit alpha-1 KCNM, KCa1.x CHEMBL275638 CHEMBL767233 (1)
1 / 1
P83916 Chromobox protein homolog 1 Unclassified protein CHEMBL275638 CHEMBL1794401 (1)
0 / 0
P04150 Glucocorticoid receptor NR3C1 CHEMBL275638 CHEMBL1052488 (1) CHEMBL1052489 (1)
CHEMBL1794382 (2)
0 / 1
P11511 Cytochrome P450 19A1 Cytochrome P450 19A1 CHEMBL275638 CHEMBL1105634 (1)
2 / 2
Q16790 Carbonic anhydrase 9 Lyase CHEMBL275638 CHEMBL2019840 (1) CHEMBL2019841 (1)
0 / 1
Q9UNQ0 ATP-binding cassette sub-family G member 2 ATP binding cassette CHEMBL275638 CHEMBL1687393 (1) CHEMBL1687394 (1)
2 / 0
P15428 15-hydroxyprostaglandin dehydrogenase [NAD(+)] Enzyme CHEMBL275638 CHEMBL1614038 (1)
2 / 2
O15118 Niemann-Pick C1 protein Unclassified protein CHEMBL275638 CHEMBL1614342 (1)
1 / 1
P51449 Nuclear receptor ROR-gamma Nuclear hormone receptor subfamily 1 group F member 3 CHEMBL275638 CHEMBL2114842 (1)
0 / 0
Q96QE3 ATPase family AAA domain-containing protein 5 Unclassified protein CHEMBL275638 CHEMBL1738588 (1) CHEMBL1738317 (1)
0 / 0
Q9H2K2 Tankyrase-2 Enzyme CHEMBL275638 CHEMBL2341186 (2)
0 / 0
P03372 Estrogen receptor NR3A1 CHEMBL275638 CHEMBL1794364 (1)
1 / 1
P37059 Estradiol 17-beta-dehydrogenase 2 Enzyme CHEMBL275638 CHEMBL958788 (1) CHEMBL958789 (1)
0 / 0
P08684 Cytochrome P450 3A4 Cytochrome P450 3A4 CHEMBL275638 CHEMBL1614108 (1) CHEMBL1613886 (1)
0 / 1
Q16236 Nuclear factor erythroid 2-related factor 2 Unclassified protein CHEMBL275638 CHEMBL2114890 (2) CHEMBL2114908 (1)
0 / 0
P10275 Androgen receptor NR3C4 CHEMBL275638 CHEMBL1052486 (1) CHEMBL1052487 (1)
CHEMBL1052490 (2)
3 / 4
P15144 Aminopeptidase N M1 CHEMBL275638 CHEMBL646405 (1)
0 / 1
P35869 Aryl hydrocarbon receptor Transcription Factor CHEMBL275638 CHEMBL2114849 (2)
0 / 0
Q9UN88 Gamma-aminobutyric acid receptor subunit theta GABA-A theta CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
P28472 Gamma-aminobutyric acid receptor subunit beta-3 GABA-A beta CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
1 / 0
P14867 Gamma-aminobutyric acid receptor subunit alpha-1 GABA-A alpha CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
1 / 1
P48169 Gamma-aminobutyric acid receptor subunit alpha-4 GABA-A alpha CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
O14764 Gamma-aminobutyric acid receptor subunit delta GABA-A delta CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
1 / 1
P31644 Gamma-aminobutyric acid receptor subunit alpha-5 GABA-A alpha CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
Q99928 Gamma-aminobutyric acid receptor subunit gamma-3 GABA-A gamma CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
P78334 Gamma-aminobutyric acid receptor subunit epsilon GABA-A epsilon CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
Q8N1C3 Gamma-aminobutyric acid receptor subunit gamma-1 GABA-A gamma CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
P34903 Gamma-aminobutyric acid receptor subunit alpha-3 GABA-A alpha CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
O00591 Gamma-aminobutyric acid receptor subunit pi GABA-A pi CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
P47870 Gamma-aminobutyric acid receptor subunit beta-2 GABA-A beta CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
P18507 Gamma-aminobutyric acid receptor subunit gamma-2 GABA-A gamma CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
4 / 2
P18505 Gamma-aminobutyric acid receptor subunit beta-1 GABA-A beta CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
Q16445 Gamma-aminobutyric acid receptor subunit alpha-6 GABA-A alpha CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
0 / 0
P47869 Gamma-aminobutyric acid receptor subunit alpha-2 GABA-A alpha CHEMBL275638 CHEMBL652513 (1) CHEMBL877825 (1)
1 / 0

CTD interaction (26)

compound gene gene name gene description interaction interaction type form reference
pmid
C043562 4363 ABCC1
ABC29
ABCC
GS-X
MRP
MRP1
ATP-binding cassette, sub-family C (CFTR/MRP), member 1 flavone inhibits the reaction [ABCC1 protein affects the export of S-(2,4-dinitrophenyl)glutathione] affects export
/ decreases reaction
protein 15041478
C043562 4363 ABCC1
ABC29
ABCC
GS-X
MRP
MRP1
ATP-binding cassette, sub-family C (CFTR/MRP), member 1 flavone results in decreased activity of ABCC1 protein decreases activity
protein 15041478
C043562 9429 ABCG2
ABC15
ABCP
BCRP
BCRP1
BMDP
CD338
CDw338
EST157481
GOUT1
MRX
MXR
MXR1
UAQTL1
ATP-binding cassette, sub-family G (WHITE), member 2 flavone results in increased expression of ABCG2 mRNA increases expression
mRNA 17077187
C043562 9429 ABCG2
ABC15
ABCP
BCRP
BCRP1
BMDP
CD338
CDw338
EST157481
GOUT1
MRX
MXR
MXR1
UAQTL1
ATP-binding cassette, sub-family G (WHITE), member 2 flavone results in increased expression of ABCG2 protein increases expression
protein 17077187
C043562 196 AHR
bHLHe76
aryl hydrocarbon receptor flavone binds to AHR protein affects binding
protein 20436506
C043562 836 CASP3
CPP32
CPP32B
SCA-1
caspase 3, apoptosis-related cysteine peptidase (EC:3.4.22.56) flavone results in increased activity of CASP3 protein increases activity
protein 15800915
C043562 836 CASP3
CPP32
CPP32B
SCA-1
caspase 3, apoptosis-related cysteine peptidase (EC:3.4.22.56) Melatonin promotes the reaction [flavone results in increased activity of CASP3 protein] increases activity
/ increases reaction
protein 15800915
C043562 1588 CYP19A1
ARO
ARO1
CPV1
CYAR
CYP19
CYPXIX
P-450AROM
cytochrome P450, family 19, subfamily A, polypeptide 1 (EC:1.14.14.1) flavone results in increased activity of CYP19A1 protein increases activity
protein 15319488
C043562 1543 CYP1A1
AHH
AHRR
CP11
CYP1
P1-450
P450-C
P450DX
cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) flavone inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A1 mRNA] decreases reaction
/ increases expression
mRNA 17090139
C043562 1543 CYP1A1
AHH
AHRR
CP11
CYP1
P1-450
P450-C
P450DX
cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) flavone inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A1 protein] decreases reaction
/ increases expression
protein 17090139
C043562 1543 CYP1A1
AHH
AHRR
CP11
CYP1
P1-450
P450-C
P450DX
cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) flavone results in decreased activity of CYP1A1 protein decreases activity
protein 21053930
C043562 1543 CYP1A1
AHH
AHRR
CP11
CYP1
P1-450
P450-C
P450DX
cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) flavone results in increased expression of CYP1A1 mRNA increases expression
mRNA 15890477
C043562 1543 CYP1A1
AHH
AHRR
CP11
CYP1
P1-450
P450-C
P450DX
cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) flavone results in increased expression of CYP1A1 protein increases expression
protein 15890477
C043562 1544 CYP1A2
CP12
P3-450
P450(PA)
cytochrome P450, family 1, subfamily A, polypeptide 2 (EC:1.14.14.1) flavone inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A2 mRNA] decreases reaction
/ increases expression
mRNA 17090139
C043562 1544 CYP1A2
CP12
P3-450
P450(PA)
cytochrome P450, family 1, subfamily A, polypeptide 2 (EC:1.14.14.1) flavone results in decreased activity of CYP1A2 protein decreases activity
protein 21053930
C043562 1545 CYP1B1
CP1B
CYPIB1
GLC3A
P4501B1
cytochrome P450, family 1, subfamily B, polypeptide 1 (EC:1.14.14.1) flavone binds to and results in decreased activity of CYP1B1 protein affects binding
/ decreases activity
protein 19563207
21053930
C043562 1545 CYP1B1
CP1B
CYPIB1
GLC3A
P4501B1
cytochrome P450, family 1, subfamily B, polypeptide 1 (EC:1.14.14.1) flavone results in increased expression of CYP1B1 mRNA increases expression
mRNA 15890477
C043562 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) flavone inhibits the reaction [CYP2C9 protein results in increased hydroxylation of Flurbiprofen] decreases reaction
/ increases hydroxylation
protein 21053930
C043562 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) flavone binds to and results in decreased activity of CYP3A4 protein affects binding
/ decreases activity
protein 21053930
C043562 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) flavone inhibits the reaction [[CYP3A4 protein results in increased oxidation of Midazolam] which results in increased chemical synthesis of 4-hydroxymidazolam] decreases reaction
/ increases chemical synthesis
/ increases oxidation
protein 21053930
C043562 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) flavone promotes the reaction [[CYP3A4 protein results in increased oxidation of Midazolam] which results in increased chemical synthesis of 1-hydroxymethylmidazolam] increases chemical synthesis
/ increases oxidation
/ increases reaction
protein 21053930
C043562 2100 ESR2
ER-BETA
ESR-BETA
ESRB
ESTRB
Erb
NR3A2
estrogen receptor 2 (ER beta) flavone binds to ESR2 protein affects binding
protein 12224631
C043562 2101 ESRRA
ERR1
ERRa
ERRalpha
ESRL1
NR3B1
estrogen-related receptor alpha flavone binds to and results in increased activity of ESRRA protein affects binding
/ increases activity
protein 14638870
C043562 2101 ESRRA
ERR1
ERRa
ERRalpha
ESRL1
NR3B1
estrogen-related receptor alpha flavone binds to ESRRA protein mutant form affects binding
protein 14638870
C043562 2103 ESRRB
DFNB35
ERR2
ERRb
ESRL2
NR3B2
estrogen-related receptor beta flavone binds to and results in increased activity of ESRRB protein affects binding
/ increases activity
protein 14638870
C043562 5444 PON1
ESA
MVCD5
PON
paraoxonase 1 (EC:3.1.1.2 3.1.8.1 3.1.1.81) flavone results in increased expression of PON1 mRNA increases expression
mRNA 15169886

Related Disease

Diseases related to proteins in ChEMBL interactions

OMIM (40)

OMIM preferred title UniProt
#202300 Adrenocortical carcinoma, hereditary; adcc P04637
#103780 Alcohol dependence P47869
#300068 Androgen insensitivity syndrome; ais P10275
#312300 Androgen insensitivity, partial; pais P10275
#613546 Aromatase deficiency P11511
#139300 Aromatase excess syndrome; aexs P11511
#614740 Basal cell carcinoma, susceptibility to, 7; bcc7 P04637
#614490 Blood group, junior system; jr Q9UNQ0
#300615 Brunner syndrome P21397
#604931 Cortisone reductase deficiency 1; cortrd1 P28845
#119900 Digital clubbing, isolated congenital P15428
#607208 Dravet syndrome P18507
#607681 Epilepsy, childhood absence, susceptibility to, 2; eca2 P18507
#612269 Epilepsy, childhood absence, susceptibility to, 5; eca5 P28472
#613060 Epilepsy, idiopathic generalized, susceptibility to, 10; eig10 O14764
#611136 Epilepsy, juvenile myoclonic, susceptibility to, 5; ejm5 P14867
#133239 Esophageal cancer P04637
#615363 Estrogen resistance; estrr P03372
#609446 Generalized epilepsy and paroxysmal dyskinesia; gepd Q12791
#604233 Generalized epilepsy with febrile seizures plus, type 1; gefsp1 P18507
#611277 Generalized epilepsy with febrile seizures plus, type 3; gefsp3 P18507
#143860 Hyperchlorhidrosis, isolated O43570
#259100 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1 P15428
#612244 Inflammatory bowel disease 13; ibd13 P08183
#151623 Li-fraumeni syndrome 1; lfs1 P04637
#211980 Lung cancer P00533
P04637
#257220 Niemann-pick disease, type c1; npc1 O15118
#259730 Osteopetrosis, autosomal recessive 3; optb3 P00918
#260500 Papilloma of choroid plexus; cpp P04637
#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
#275355 Squamous cell carcinoma, head and neck; hnscc P04637
#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
#138900 Uric acid concentration, serum, quantitative trait locus 1; uaqtl1 Q9UNQ0
#614916 Ventricular tachycardia, catecholaminergic polymorphic, 4; cpvt4 P62158

KEGG DISEASE (58)

KEGG disease name UniProt
H00783 Febrile seizures O14764 (related)
P18507 (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)
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)
H00026 Endometrial Cancer P03372 (marker)
P04637 (related)
H00599 46,XX disorders of sex development (Disorders related to androgen excess) P04150 (related)
P11511 (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)
H00027 Ovarian cancer P04637 (related)
H00029 Vulvar cancer P04637 (related)
H00031 Breast cancer P04637 (related)
H00032 Thyroid cancer P04637 (related)
H00033 Adrenal carcinoma P04637 (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)
H00047 Gallbladder cancer P04637 (related)
H00048 Hepatocellular carcinoma P04637 (related)
H00881 Li-Fraumeni syndrome P04637 (related)
H01007 Choroid plexus papilloma P04637 (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)
H00249 Thyroid hormone resistance syndrome P10828 (related)
H00794 Aromatase excess syndrome P11511 (related)
H00808 Idiopathic generalized epilepsies (IGEs) P14867 (related)
P18507 (related)
H00003 Acute myeloid leukemia (AML) P15144 (marker)
H00457 Primary hypertrophic osteoarthropathy (PHO) P15428 (related)
H01246 Isolated congenital nail clubbing (ICNC) P15428 (related)
H00548 Brunner syndrome P21397 (related)
H01111 Cortisone reductase deficiency (CRD) P28845 (related)
H01258 Generalized epilepsy and paroxysmal dyskinesia (GEPD) Q12791 (related)
H00455 Spinal muscular atrophy (SMA) Q16637 (related)
Q16637 (related)