Severinia buxifolia
Species
KNApSAcK Entry
| Organism name | Severinia buxifolia |
|---|---|
| Genus | Severinia |
| Family | Rutaceae |
| Kingdom | Plantae |
NCBI taxonomy
Entry
| Linked NCBI taxonomy name | Atalantia buxifolia |
|---|---|
| Linked NCBI taxonomy ID | 76974 |
| Linked level | species |
Family
| Family in NCBI taxonomy | Rutaceae |
|---|---|
| ID | 23513 |
Kingdom (Superkingdom)
| Kingdom (Superkingdom) in NCBI taxonomy | Viridiplantae |
|---|---|
| ID | 33090 |
Plant class
| Plant class | rosids |
|---|---|
| ID | 71275 |
Metabolite list (36)
| 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 |
|---|---|---|---|---|---|---|---|---|
C00003672
|
Sitosterol
/ beta-sitosterl / (-)-beta-Sitosterol / Stigmast-5-en-3beta-ol |
CHEMBL221542
CHEMBL1398443 CHEMBL1875388 |
17 / 19 / 12 | No. 53 | No. 11 |
|
||
|
C00045590
|
7-Isovaleroylcycloepiatalantin
/ (+)-7-Isovaleroylcycloepiatalantin |
No. 204 | No. 51 |
|
||||
|
C00042251
|
Atalantolide
|
No. 204 | No. 51 |
|
||||
|
C00045591
|
7-Isovaleroylcycloseverinolide
/ (+)-7-Isovaleroylcycloseverinolide |
No. 204 | No. 51 |
|
||||
|
C00042456
|
Dehydroatalantin
|
No. 204 | No. 51 |
|
||||
|
C00042435
|
Cycloseverinolide
/ (+)-Cycloseverinolide |
No. 204 | No. 51 |
|
||||
|
C00042250
|
Atalantin
/ (+)-Atalantin |
No. 204 | No. 51 |
|
||||
|
C00024250
|
Citrusinine II
|
CHEMBL465847
|
1 / 0 / 0 | No. 257 | No. 7 |
|
||
|
C00024243
|
Buxifoliadine-F
|
No. 257 | No. 7 |
|
||||
|
C00024249
|
Citrusinine I
|
CHEMBL451705
|
C062044
|
1 / 0 / 0 | No. 257 | No. 7 |
|
|
|
C00024245
|
Buxifoliadine-H
|
CHEMBL465629
|
No. 257 | No. 7 |
|
|||
|
C00029763
|
Auraptene
|
CHEMBL307341
|
C105832
|
28 / 25 / 26 | 3 / 0 | No. 335 |
|
|
|
C00002139
|
Atalaphylline
|
No. 469 | No. 7 |
|
||||
|
C00024259
|
Glycocitrine-I
|
CHEMBL508186
|
No. 469 | No. 7 |
|
|||
|
C00024240
|
Buxifoliadine-C
|
No. 469 | No. 7 |
|
||||
|
C00024244
|
Buxifoliadine-G
|
No. 469 | No. 7 |
|
||||
|
C00024239
|
Buxifoliadine-B
|
No. 469 | No. 7 |
|
||||
|
C00024267
|
N-Methylatalaphylline
|
No. 469 | No. 7 |
|
||||
|
C00024238
|
Buxifoliadine A
|
No. 469 | No. 7 |
|
||||
|
C00042996
|
Severinolide
/ (+)-Severinolide |
No. 536 |
|
|||||
|
C00030753
|
Methyl ferulate
/ Ferulic acid methyl ester |
CHEMBL32969
|
No. 876 |
|
||||
|
C00042223
|
alpha-Santalen-11-one
|
No. 992 | No. 38 |
|
||||
|
C00021849
|
(+)-alpha-Santalan-12-one
|
No. 992 | No. 38 |
|
||||
|
C00021854
|
alpha-Santalone
|
No. 992 | No. 38 |
|
||||
|
C00021850
|
alpha-Santalene
|
No. 992 | No. 38 |
|
||||
|
C00002503
|
Umbelliferon
/ Umbelliferone / 7-Hydroxycoumarin |
CHEMBL51628
|
C031477
|
39 / 33 / 32 | 9 / 0 | No. 1030 | No. 25 |
|
|
C00024242
|
Buxifoliadine E
|
No. 1258 |
|
|||||
|
C00042252
|
Atalaphyllinine
|
CHEMBL508187
|
C059223
|
No. 1258 |
|
|||
|
C00024241
|
Buxifoliadine-D
|
CHEMBL465650
|
No. 1258 |
|
||||
|
C00042778
|
N-Methylseverifoline
|
CHEMBL452221
|
No. 1258 |
|
||||
|
C00042995
|
Severifoline
|
CHEMBL517032
|
No. 1258 |
|
||||
|
C00024235
|
Atalaphyllidine
|
CHEMBL452220
|
No. 1724 | No. 7 |
|
|||
|
C00019878
|
8-Geranyl-7-hydroxycoumarin
|
No. 1758 | No. 25 |
|
||||
|
C00046206
|
N-Methylswietenidine B
|
No. 3076 | No. 7 |
|
||||
|
C00024227
|
1,2,3-Trihydroxyacridone
|
No. 6739 |
|
|||||
|
C00026482
|
Severibuxine
|
No. 8021 |
|
Human Protein / Gene in interactions
71 ChEMBL Protein in interactions
| accession | description | class description | KNApSAcK metabolite in interactions |
# of diseases
(OMIM / KEGG) |
|---|---|---|---|---|
| Q9NUW8 | Tyrosyl-DNA phosphodiesterase 1 | Enzyme | C00002503 C00003672 C00029763 | 1 / 1 |
| Q99714 | 3-hydroxyacyl-CoA dehydrogenase type-2 | Enzyme | C00002503 C00029763 | 3 / 3 |
| B2RXH2 | Lysine-specific demethylase 4E | Enzyme | C00002503 C00029763 | 0 / 0 |
| P80365 | Corticosteroid 11-beta-dehydrogenase isozyme 2 | Enzyme | C00002503 C00003672 | 1 / 1 |
| P08684 | Cytochrome P450 3A4 | Cytochrome P450 3A4 | C00003672 C00029763 | 0 / 1 |
| O60911 | Cathepsin L2 | C1A | C00024249 C00024250 | 0 / 0 |
| P15428 | 15-hydroxyprostaglandin dehydrogenase [NAD(+)] | Enzyme | C00002503 C00029763 | 2 / 2 |
| P04062 | Glucosylceramidase | Enzyme | C00002503 C00029763 | 6 / 4 |
| P56817 | Beta-secretase 1 | A1A | C00002503 C00029763 | 0 / 0 |
| P06280 | Alpha-galactosidase A | Enzyme | C00002503 C00029763 | 1 / 1 |
| P14679 | Tyrosinase | Oxidoreductase | C00002503 C00003672 | 4 / 2 |
| P83916 | Chromobox protein homolog 1 | Unclassified protein | C00002503 C00029763 | 0 / 0 |
| O75496 | Geminin | Unclassified protein | C00002503 C00029763 | 0 / 0 |
| P00352 | Retinal dehydrogenase 1 | Enzyme | C00002503 C00029763 | 0 / 0 |
| Q00796 | Sorbitol dehydrogenase | Enzyme | C00002503 | 0 / 0 |
| P16473 | Thyrotropin receptor | Glycohormone receptor | C00003672 | 3 / 2 |
| P47989 | Xanthine dehydrogenase/oxidase | Oxidoreductase | C00002503 | 1 / 1 |
| P00918 | Carbonic anhydrase 2 | Lyase | C00002503 | 1 / 2 |
| P08183 | Multidrug resistance protein 1 | drug | C00003672 | 1 / 0 |
| P11712 | Cytochrome P450 2C9 | Cytochrome P450 2C9 | C00003672 | 0 / 1 |
| Q13315 | Serine-protein kinase ATM | Atypical serine/threonine protein kinase PIKK subfamily | C00029763 | 1 / 4 |
| P28845 | Corticosteroid 11-beta-dehydrogenase isozyme 1 | Enzyme | C00002503 | 1 / 1 |
| P17405 | Sphingomyelin phosphodiesterase | Enzyme | C00029763 | 2 / 2 |
| O43570 | Carbonic anhydrase 12 | Lyase | C00002503 | 1 / 2 |
| P39748 | Flap endonuclease 1 | Enzyme | C00002503 | 0 / 0 |
| Q92830 | Histone acetyltransferase KAT2A | Enzyme | C00002503 | 0 / 0 |
| P84022 | Mothers against decapentaplegic homolog 3 | Unclassified protein | C00029763 | 2 / 0 |
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | Enzyme | C00002503 | 0 / 0 |
| P54855 | UDP-glucuronosyltransferase 2B15 | Enzyme | C00002503 | 0 / 0 |
| P18405 | 3-oxo-5-alpha-steroid 4-dehydrogenase 1 | Oxidoreductase | C00002503 | 0 / 0 |
| P15121 | Aldose reductase | Enzyme | C00002503 | 0 / 0 |
| P00915 | Carbonic anhydrase 1 | Lyase | C00002503 | 0 / 0 |
| P49841 | Glycogen synthase kinase-3 beta | Gsk | C00003672 | 0 / 0 |
| P43220 | Glucagon-like peptide 1 receptor | Glucagon-like peptide receptor | C00029763 | 0 / 0 |
| Q9Y253 | DNA polymerase eta | Enzyme | C00029763 | 1 / 1 |
| Q9Y468 | Lethal(3)malignant brain tumor-like protein 1 | Unclassified protein | C00029763 | 0 / 0 |
| P29466 | Caspase-1 | C14 | C00002503 | 0 / 0 |
| O94782 | Ubiquitin carboxyl-terminal hydrolase 1 | Enzyme | C00029763 | 0 / 0 |
| P00734 | Prothrombin | S1A | C00003672 | 4 / 2 |
| P10253 | Lysosomal alpha-glucosidase | Hydrolase | C00002503 | 1 / 1 |
| P10635 | Cytochrome P450 2D6 | Cytochrome P450 2D6 | C00003672 | 1 / 0 |
| Q96RI1 | Bile acid receptor | NR1H4 | C00029763 | 0 / 0 |
| P28482 | Mitogen-activated protein kinase 1 | Erk | C00029763 | 0 / 0 |
| P06746 | DNA polymerase beta | Enzyme | C00003672 | 0 / 0 |
| P05177 | Cytochrome P450 1A2 | Cytochrome P450 1A2 | C00003672 | 0 / 0 |
| Q16790 | Carbonic anhydrase 9 | Lyase | C00002503 | 0 / 1 |
| P35354 | Prostaglandin G/H synthase 2 | Oxidoreductase | C00002503 | 0 / 3 |
| P49798 | Regulator of G-protein signaling 4 | Unclassified protein | C00003672 | 2 / 0 |
| Q9HAW9 | UDP-glucuronosyltransferase 1-8 | Enzyme | C00002503 | 0 / 0 |
| Q9Y4X1 | UDP-glucuronosyltransferase 2A1 | Enzyme | C00002503 | 0 / 0 |
| P03372 | Estrogen receptor | NR3A1 | C00003672 | 1 / 1 |
| P22303 | Acetylcholinesterase | Hydrolase | C00002503 | 1 / 0 |
| P08047 | Transcription factor Sp1 | Unclassified protein | C00003672 | 0 / 0 |
| P16050 | Arachidonate 15-lipoxygenase | Enzyme | C00029763 | 0 / 0 |
| P55210 | Caspase-7 | C14 | C00002503 | 0 / 0 |
| Q99700 | Ataxin-2 | Unclassified protein | C00002503 | 1 / 1 |
| P33261 | Cytochrome P450 2C19 | Cytochrome P450 2C19 | C00003672 | 1 / 1 |
| Q9HAW8 | UDP-glucuronosyltransferase 1-10 | Enzyme | C00002503 | 0 / 0 |
| O75164 | Lysine-specific demethylase 4A | Enzyme | C00029763 | 0 / 0 |
| P22309 | UDP-glucuronosyltransferase 1-1 | Enzyme | C00002503 | 5 / 1 |
| P10636 | Microtubule-associated protein tau | Unclassified protein | C00029763 | 4 / 3 |
| Q9UIF8 | Bromodomain adjacent to zinc finger domain protein 2B | Unclassified protein | C00029763 | 0 / 0 |
| P18031 | Tyrosine-protein phosphatase non-receptor type 1 | Tyr | C00003672 | 0 / 0 |
| Q96KQ7 | Histone-lysine N-methyltransferase EHMT2 | Enzyme | C00029763 | 0 / 0 |
| P22310 | UDP-glucuronosyltransferase 1-4 | Enzyme | C00002503 | 3 / 0 |
| O00255 | Menin | Unclassified protein | C00002503 | 2 / 5 |
| Q03164 | Histone-lysine N-methyltransferase 2A | Enzyme | C00002503 | 1 / 2 |
| Q13951 | Core-binding factor subunit beta | Unclassified protein | C00029763 | 0 / 1 |
| Q01196 | Runt-related transcription factor 1 | Unclassified protein | C00029763 | 1 / 4 |
| O94925 | Glutaminase kidney isoform, mitochondrial | Enzyme | C00002503 | 0 / 0 |
| Q13148 | TAR DNA-binding protein 43 | Unclassified protein | C00029763 | 1 / 1 |
12 Gene in CTD interactions
| gene | gene name | gene description | KNApSAcK metabolite in interactions |
|---|---|---|---|
| 8644 | AKR1C3, DD3, DDX, HA1753, HAKRB, HAKRe, HSD17B5, PGFS, hluPGFS | aldo-keto reductase family 1, member C3 (EC:1.3.1.20 1.1.1.188 1.1.1.239 1.1.1.64 1.1.1.112 1.1.1.357) |
C00002503
|
| 8574 | AKR7A2, AFAR, AFAR1, AFB1-AR1, AKR7 | aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (EC:1.1.1.n11) |
C00002503
|
| 581 | BAX, BCL2L4 | BCL2-associated X protein |
C00002503
|
| 596 | BCL2, Bcl-2, PPP1R50 | B-cell CLL/lymphoma 2 |
C00002503
|
| 595 | CCND1, BCL1, D11S287E, PRAD1, U21B31 | cyclin D1 |
C00002503
|
| 1548 | CYP2A6, CPA6, CYP2A, CYP2A3, CYPIIA6, P450C2A, P450PB | cytochrome P450, family 2, subfamily A, polypeptide 6 (EC:1.14.14.1) |
C00002503
|
| 6817 | SULT1A1, HAST1/HAST2, P-PST, PST, ST1A1, ST1A3, STP, STP1, TSPST1 | sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (EC:2.8.2.1) |
C00002503
|
| 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) |
C00002503
|
| 7366 | UGT2B15, HLUG4, UDPGT_2B8, UDPGT2B15, UDPGTH3, UGT2B8 | UDP glucuronosyltransferase 2 family, polypeptide B15 (EC:2.4.1.17) |
C00002503
|
| 1543 | CYP1A1, AHH, AHRR, CP11, CYP1, P1-450, P450-C, P450DX | cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) |
C00029763
|
| 5743 | PTGS2, COX-2, COX2, GRIPGHS, PGG/HS, PGHS-2, PHS-2, hCox-2 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (EC:1.14.99.1) |
C00029763
|
| 7422 | VEGFA, MVCD1, VEGF, VPF | vascular endothelial growth factor A |
C00029763
|
Related Diseases
Diseases related to proteins in ChEMBL interactions
OMIM (58)
| OMIM | preferred title | UniProt |
|---|---|---|
| #300438 | 17-beta-hydroxysteroid dehydrogenase x deficiency |
Q99714
|
| #103470 | Albinism, ocular, with sensorineural deafness |
P14679
|
| #203100 | Albinism, oculocutaneous, type ia; oca1a |
P14679
|
| #606952 | Albinism, oculocutaneous, type ib; oca1b |
P14679
|
| #612069 | Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia; als10 |
Q13148
|
| #218030 | Apparent mineralocorticoid excess; ame |
P80365
|
| #208900 | Ataxia-telangiectasia; at |
Q13315
|
| #601816 | Bilirubin, serum level of, quantitative trait locus 1; biliqtl1 |
P22309
|
| #114500 | Colorectal cancer; crc |
P84022
|
| #604931 | Cortisone reductase deficiency 1; cortrd1 |
P28845
|
| #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
|
| #615363 | Estrogen resistance; estrr |
P03372
|
| #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 |
| #232300 | Glycogen storage disease ii |
P10253
|
| #605130 | Hairy elbows, short stature, facial dysmorphism, and developmental delay |
Q03164
|
| #237900 | Hyperbilirubinemia, transient familial neonatal; hblrtfn |
P22309
|
| #143860 | Hyperchlorhidrosis, isolated |
O43570
|
| #145000 | Hyperparathyroidism 1; hrpt1 |
O00255
|
| #603373 | Hyperthyroidism, familial gestational |
P16473
|
| #609152 | Hyperthyroidism, nonautoimmune |
P16473
|
| #259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1 |
P15428
|
| #275200 | Hypothyroidism, congenital, nongoitrous, 1; chng1 |
P16473
|
| #612244 | Inflammatory bowel disease 13; ibd13 |
P08183
|
| #613795 | Loeys-dietz syndrome, type 3; lds3 |
P84022
|
| #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
|
| #257200 | Niemann-pick disease, type a |
P17405
|
| #607616 | Niemann-pick disease, type b |
P17405
|
| #259730 | Osteopetrosis, autosomal recessive 3; optb3 |
P00918
|
| #168600 | Parkinson disease, late-onset; pd |
P04062
|
| #260540 | Parkinson-dementia syndrome |
P10636
|
| #172700 | Pick disease of brain |
P10636
|
| #601399 | Platelet disorder, familial, with associated myeloid malignancy |
Q01196
|
| #614390 | Pregnancy loss, recurrent, susceptibility to, 2; rprgl2 |
P00734
|
| #613679 | Prothrombin deficiency, congenital |
P00734
|
| #604906 | Schizophrenia 9; sczd9 |
P49798
|
| #181500 | Schizophrenia; sczd |
P49798
|
| #601800 | Skin/hair/eye pigmentation, variation in, 3; shep3 |
P14679
|
| #183090 | Spinocerebellar ataxia 2; sca2 |
Q99700
|
| #607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1 |
Q9NUW8
|
| #601367 | Stroke, ischemic |
P00734
|
| #601104 | Supranuclear palsy, progressive, 1; psnp1 |
P10636
|
| #188050 | Thrombophilia due to thrombin defect; thph1 |
P00734
|
| #278300 | Xanthinuria, type i |
P47989
|
| #278750 | Xeroderma pigmentosum, variant type; xpv |
Q9Y253
|
| #112100 | Yt blood group antigen |
P22303
|
KEGG DISEASE (53)
| KEGG | name | UniProt |
|---|---|---|
| H00033 | Adrenal carcinoma |
O00255
(related)
|
| H00034 | Carcinoid |
O00255
(related)
|
| H00045 | Malignant islet cell carcinoma |
O00255
(related)
|
| H00246 | Primary hyperparathyroidism |
O00255
(related)
|
| H01102 | Pituitary adenomas |
O00255
(related)
|
| H01302 | Hyperchlorhidrosis isolated (HCHLH) |
O43570
(related)
|
| H00021 | Renal cell carcinoma |
O43570
(marker)
Q16790 (marker) |
| H00223 | Inherited thrombophilia |
P00734
(related)
|
| H01254 | Congenital prothrombin deficiency |
P00734
(related)
|
| H00241 | Combined proximal and distal renal tubular acidosis (RTA type 3) |
P00918
(related)
|
| H00436 | Osteopetrosis |
P00918
(related)
|
| H00026 | Endometrial Cancer |
P03372
(marker)
|
| 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)
|
| H00125 | Fabry disease |
P06280
(related)
|
| H00036 | Osteosarcoma |
P08684
(marker)
|
| H00069 | Glycogen storage diseases (GSD) |
P10253
(related)
|
| H00058 | Amyotrophic lateral sclerosis (ALS) |
P10636
(related)
Q13148 (related) |
| H00077 | Progressive supranuclear palsy (PSP) |
P10636
(related)
|
| H00078 | Frontotemporal lobar degeneration (FTLD) |
P10636
(related)
|
| H01205 | Coumarin resistance |
P11712
(related)
|
| H00168 | Oculocutaneous albinism (OCA) |
P14679
(related)
|
| H00038 | Malignant melanoma |
P14679
(marker)
|
| H00457 | Primary hypertrophic osteoarthropathy (PHO) |
P15428
(related)
|
| H01246 | Isolated congenital nail clubbing (ICNC) |
P15428
(related)
|
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) |
P16473
(related)
|
| H01269 | Congenital hyperthyroidism |
P16473
(related)
|
| H00137 | Niemann-Pick disease (NPD) typeA and B |
P17405
(related)
|
| H00424 | Defects in the degradation of sphingomyelin |
P17405
(related)
|
| H00208 | Hyperbilirubinemia |
P22309
(related)
|
| H01111 | Cortisone reductase deficiency (CRD) |
P28845
(related)
|
| H01171 | Poor drug metabolism (PM) |
P33261
(related)
|
| H00017 | Esophageal cancer |
P35354
(related)
|
| H00025 | Penile cancer |
P35354
(related)
|
| H00046 | Cholangiocarcinoma |
P35354
(related)
|
| H00192 | Xanthinuria |
P47989
(related)
|
| H00259 | Apparent mineralocorticoid excess syndrome |
P80365
(related)
|
| H00001 | Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) |
Q01196
(related)
Q01196 (marker) Q03164 (related) Q03164 (marker) |
| H00003 | Acute myeloid leukemia (AML) |
Q01196
(related)
Q01196 (marker) Q13951 (marker) |
| H00004 | Chronic myeloid leukemia (CML) |
Q01196
(related)
|
| H00978 | Thrombocytopenia (THC) |
Q01196
(related)
|
| H00002 | Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) |
Q03164
(related)
|
| H00005 | Chronic lymphocytic leukemia (CLL) |
Q13315
(related)
|
| H00064 | Ataxia telangiectasia (AT) |
Q13315
(related)
|
| H00094 | DNA repair defects |
Q13315
(related)
|
| H00848 | Ataxia with ocular apraxia (AOA) |
Q13315
(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)
|
| H00403 | Disorders of nucleotide excision repair |
Q9Y253
(related)
|