Boesenbergia pandurata
Species
KNApSAcK Entry
| Organism name | Boesenbergia pandurata |
|---|---|
| Genus | Boesenbergia |
| Family | Zingiberaceae |
| Kingdom | Plantae |
NCBI taxonomy
Entry
| Linked NCBI taxonomy name | Boesenbergia |
|---|---|
| Linked NCBI taxonomy ID | 97724 |
| Linked level | genus |
Family
| Family in NCBI taxonomy | Zingiberaceae |
|---|---|
| ID | 4642 |
Kingdom (Superkingdom)
| Kingdom (Superkingdom) in NCBI taxonomy | Viridiplantae |
|---|---|
| ID | 33090 |
Plant class
| Plant class | Liliopsida |
|---|---|
| ID | 4447 |
Metabolite list (29)
| 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 |
|---|---|---|---|---|---|---|---|---|
C00003871
|
5,7,3',4'-Tetramethoxyflavone
/ Luteolin 5,7,3',4'-tetramethyl ether |
CHEMBL327340
|
C103111
|
1 / 0 | No. 8 | No. 15 |
|
|
|
C00038097
|
(2S)-6-Geranylpinostrobin
|
CHEMBL399909
|
No. 19 | No. 14 |
|
|||
|
C00038046
|
(-)-6-Geranylpinocembrin
|
CHEMBL254612
|
No. 19 | No. 14 |
|
|||
|
C00038094
|
(-)-(2R)-8-Geranylpinostrobin
|
CHEMBL252728
|
No. 19 | No. 14 |
|
|||
|
C00008143
|
Alpinetin
/ (-)-Alpinetin |
CHEMBL427218
CHEMBL254825 |
No. 25 | No. 14 |
|
|||
|
C00008225
|
Naringenin 5-methyl ether
/ Naringenin 5-O-methyl ether / 7,4'-Dihydroxy-5-methoxyflavanone / (-)-7,4'-Dihydroxy-5-methoxyflavanone |
CHEMBL255035
CHEMBL501251 |
No. 25 | No. 14 |
|
|||
|
C00008144
|
Pinostrobin
/ (-)-Pinostrobin / (2S)-Pinocembrin / (-)-(2S)-Pinocembrin |
CHEMBL254613
|
1 / 2 / 0 | No. 25 | No. 14 |
|
||
|
C00038060
|
(-)-Pinocembrin
|
CHEMBL70518
CHEMBL399910 CHEMBL399249 |
18 / 23 / 23 | No. 25 | No. 14 |
|
||
|
C00003821
|
5,7,4'-Trimethoxyflavone
/ Apigenin 5,7,4'-trimethyl ether |
CHEMBL1087720
|
C103112
|
1 / 1 / 0 | 1 / 0 | No. 35 | No. 15 |
|
|
C00001042
|
3,5,7-trimethoxyflavone
/ Galangin trimethyl ether / Galangin 3,5,7-trimethyl ether |
CHEMBL75772
|
1 / 0 / 0 | No. 35 | No. 15 |
|
||
|
C00004537
|
3,7-Dimethylgalangin
/ Galangin 3,7-dimethyl ether / 3,7-Dimethoxy-5-hydroxyflavone / 5-Hydroxy-3,7-dimethoxy-2-phenyl-4H-1-benzopyran-4-one |
CHEMBL1097683
|
No. 35 | No. 15 |
|
|||
|
C00001028
|
5,7-Dimethoxyflavone
/ chrysin 5,7-dimethyl ether |
CHEMBL275391
|
C060298
|
14 / 13 / 13 | 2 / 3 | No. 35 | No. 15 |
|
|
C00003795
|
Tectochrysin
/ 5-hydroxy-7-methoxyflavone |
CHEMBL164841
|
12 / 19 / 14 | No. 76 | No. 15 |
|
||
|
C00006936
|
Flavokawin B
|
CHEMBL104255
|
19 / 31 / 55 | No. 79 |
|
|||
|
C00006957
|
Flavokawain C
|
CHEMBL251958
|
No. 79 |
|
||||
|
C00006958
|
Flavokawin A
/ 2'-Hydroxy-4,4',6'-trimethoxychalcone |
CHEMBL243829
|
3 / 3 / 0 | No. 79 |
|
|||
|
C00006934
|
Pinostrobin chalcone
/ 2',6'-Dihydroxy-4'-methoxychalcone |
CHEMBL317221
CHEMBL1705800 |
3 / 1 / 2 | No. 92 | No. 13 |
|
||
|
C00006935
|
Cardamomin
|
CHEMBL378104
|
13 / 18 / 14 | No. 92 | No. 13 |
|
||
|
C00007131
|
Boesenbergin A
|
CHEMBL442440
|
No. 186 |
|
||||
|
C00007132
|
Boesenbergin B
|
CHEMBL404850
|
No. 186 |
|
||||
|
C00038202
|
2',4'-Dihydroxy-3'-(1''-geranyl)-6'-methoxychalcone
|
CHEMBL255070
|
No. 190 | No. 13 |
|
|||
|
C00038055
|
(-)-Hydroxypanduratin A
|
CHEMBL210882
|
No. 322 |
|
||||
|
C00038059
|
(-)-Panduratin A
|
CHEMBL379110
CHEMBL465442 |
No. 322 |
|
||||
|
C00038090
|
(1'R,2'S,6'R)-2-Hydroxyisopanduratin A
|
CHEMBL255085
|
No. 322 |
|
||||
|
C00007134
|
Panduratin A
/ (+)-Panduratin A |
CHEMBL379110
CHEMBL465442 |
No. 322 |
|
||||
|
C00039264
|
Geranyl-2,4-dihydroxy-6-phenethylbenzoate
|
CHEMBL252154
|
No. 429 | No. 26 |
|
|||
|
C00029550
|
5,6-Dehydrokawain
/ Desmethoxyyangonin |
CHEMBL254218
|
12 / 16 / 44 | No. 1312 | No. 63 |
|
||
|
C00007133
|
Rubranine
|
No. 4362 |
|
|||||
|
C00007136
|
Panduratin B
|
No. 6941 |
|
Human Protein / Gene in interactions
58 ChEMBL Protein in interactions
| accession | description | class description | KNApSAcK metabolite in interactions |
# of diseases
(OMIM / KEGG) |
|---|---|---|---|---|
| Q96QE3 | ATPase family AAA domain-containing protein 5 | Unclassified protein | C00001028 C00003795 C00006936 C00038060 | 0 / 0 |
| P08684 | Cytochrome P450 3A4 | Cytochrome P450 3A4 | C00003795 C00006936 C00029550 C00038060 | 0 / 1 |
| Q9UNQ0 | ATP-binding cassette sub-family G member 2 | ATP binding cassette | C00001028 C00006936 C00006958 C00008144 | 2 / 0 |
| P10636 | Microtubule-associated protein tau | Unclassified protein | C00003795 C00006935 C00006936 C00038060 | 4 / 3 |
| Q03164 | Histone-lysine N-methyltransferase 2A | Enzyme | C00001028 C00006935 C00006936 C00038060 | 1 / 2 |
| P08183 | Multidrug resistance protein 1 | drug | C00003795 C00003821 C00006958 | 1 / 0 |
| P63092 | Guanine nucleotide-binding protein G(s) subunit alpha isoforms short | Other membrane protein | C00006935 C00006936 C00038060 | 7 / 3 |
| P11712 | Cytochrome P450 2C9 | Cytochrome P450 2C9 | C00003795 C00006934 C00038060 | 0 / 1 |
| O75496 | Geminin | Unclassified protein | C00003795 C00006935 C00006936 | 0 / 0 |
| O00255 | Menin | Unclassified protein | C00001028 C00006935 C00038060 | 2 / 5 |
| P33261 | Cytochrome P450 2C19 | Cytochrome P450 2C19 | C00003795 C00006934 C00038060 | 1 / 1 |
| P04637 | Cellular tumor antigen p53 | Transcription Factor | C00006936 C00029550 | 7 / 37 |
| O15118 | Niemann-Pick C1 protein | Unclassified protein | C00001028 C00003795 | 1 / 1 |
| Q9UNA4 | DNA polymerase iota | Enzyme | C00001028 C00006935 | 0 / 0 |
| Q99714 | 3-hydroxyacyl-CoA dehydrogenase type-2 | Enzyme | C00006936 C00038060 | 3 / 3 |
| O75164 | Lysine-specific demethylase 4A | Enzyme | C00006935 C00006936 | 0 / 0 |
| P27695 | DNA-(apurinic or apyrimidinic site) lyase | Enzyme | C00006934 C00038060 | 0 / 0 |
| P43220 | Glucagon-like peptide 1 receptor | Glucagon-like peptide receptor | C00001028 C00006936 | 0 / 0 |
| Q99700 | Ataxin-2 | Unclassified protein | C00006935 C00006936 | 1 / 1 |
| Q9UIF8 | Bromodomain adjacent to zinc finger domain protein 2B | Unclassified protein | C00006935 C00006936 | 0 / 0 |
| Q16236 | Nuclear factor erythroid 2-related factor 2 | Unclassified protein | C00003795 C00029550 | 0 / 0 |
| P00352 | Retinal dehydrogenase 1 | Enzyme | C00001028 C00029550 | 0 / 0 |
| P84022 | Mothers against decapentaplegic homolog 3 | Unclassified protein | C00006935 C00006936 | 2 / 0 |
| P83916 | Chromobox protein homolog 1 | Unclassified protein | C00038060 | 0 / 0 |
| P51151 | Ras-related protein Rab-9A | Unclassified protein | C00001028 | 0 / 0 |
| P38398 | Breast cancer type 1 susceptibility protein | Enzyme | C00001028 | 4 / 2 |
| P04798 | Cytochrome P450 1A1 | Cytochrome P450 1A1 | C00038060 | 0 / 0 |
| P11309 | Serine/threonine-protein kinase pim-1 | Pim | C00038060 | 0 / 0 |
| P19793 | Retinoic acid receptor RXR-alpha | NR2B1 | C00029550 | 0 / 0 |
| P11473 | Vitamin D3 receptor | NR1I1 | C00006936 | 2 / 3 |
| Q9HC16 | DNA dC->dU-editing enzyme APOBEC-3G | Enzyme | C00006935 | 0 / 0 |
| P11021 | 78 kDa glucose-regulated protein | Unclassified protein | C00006936 | 0 / 0 |
| O94782 | Ubiquitin carboxyl-terminal hydrolase 1 | Enzyme | C00006936 | 0 / 0 |
| P51843 | Nuclear receptor subfamily 0 group B member 1 | Nuclear hormone receptor subfamily 0 group B member 1 | C00001028 | 2 / 2 |
| Q16678 | Cytochrome P450 1B1 | Cytochrome P450 1B1 | C00038060 | 4 / 4 |
| Q96RI1 | Bile acid receptor | NR1H4 | C00029550 | 0 / 0 |
| P05177 | Cytochrome P450 1A2 | Cytochrome P450 1A2 | C00038060 | 0 / 0 |
| P16473 | Thyrotropin receptor | Glycohormone receptor | C00003795 | 3 / 2 |
| P37840 | Alpha-synuclein | Unclassified protein | C00003795 | 4 / 2 |
| P15428 | 15-hydroxyprostaglandin dehydrogenase [NAD(+)] | Enzyme | C00029550 | 2 / 2 |
| P08047 | Transcription factor Sp1 | Unclassified protein | C00038060 | 0 / 0 |
| P51449 | Nuclear receptor ROR-gamma | Nuclear hormone receptor subfamily 1 group F member 3 | C00029550 | 0 / 0 |
| Q13315 | Serine-protein kinase ATM | Atypical serine/threonine protein kinase PIKK subfamily | C00006936 | 1 / 4 |
| Q13526 | Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 | Enzyme | C00038060 | 0 / 0 |
| Q03181 | Peroxisome proliferator-activated receptor delta | NR1C2 | C00029550 | 0 / 0 |
| P04062 | Glucosylceramidase | Enzyme | C00003795 | 6 / 4 |
| Q6W5P4 | Neuropeptide S receptor | Neuropeptide receptor | C00006935 | 1 / 0 |
| P22001 | Potassium voltage-gated channel subfamily A member 3 | KCNA, Kv1.x (Shaker) | C00006935 | 0 / 0 |
| P33765 | Adenosine receptor A3 | Adenosine receptor | C00001042 | 0 / 0 |
| Q16637 | Survival motor neuron protein | Unclassified protein | C00029550 | 4 / 1 |
| P10635 | Cytochrome P450 2D6 | Cytochrome P450 2D6 | C00038060 | 1 / 0 |
| P10275 | Androgen receptor | NR3C4 | C00029550 | 3 / 4 |
| P35869 | Aryl hydrocarbon receptor | Transcription Factor | C00029550 | 0 / 0 |
| Q9UBT6 | DNA polymerase kappa | Enzyme | C00001028 | 0 / 0 |
| B2RXH2 | Lysine-specific demethylase 4E | Enzyme | C00001028 | 0 / 0 |
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | Enzyme | C00006936 | 1 / 0 |
| P33527 | Multidrug resistance-associated protein 1 | drugs | C00006958 | 0 / 0 |
| Q13148 | TAR DNA-binding protein 43 | Unclassified protein | C00001028 | 1 / 1 |
3 Gene in CTD interactions
| gene | gene name | gene description | KNApSAcK metabolite in interactions |
|---|---|---|---|
| 1545 | CYP1B1, CP1B, CYPIB1, GLC3A, P4501B1 | cytochrome P450, family 1, subfamily B, polypeptide 1 (EC:1.14.14.1) |
C00001028
C00003821
|
| 1543 | CYP1A1, AHH, AHRR, CP11, CYP1, P1-450, P450-C, P450DX | cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) |
C00001028
|
| 4363 | ABCC1, ABC29, ABCC, GS-X, MRP, MRP1 | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 |
C00003871
|
Related Diseases
Diseases related to proteins in ChEMBL interactions
OMIM (70)
| OMIM | preferred title | UniProt |
|---|---|---|
| #300438 | 17-beta-hydroxysteroid dehydrogenase x deficiency |
Q99714
|
| #300018 | 46,xy sex reversal 2; srxy2 |
P51843
|
| #219080 | Acth-independent macronodular adrenal hyperplasia; aimah |
P63092
|
| #300200 | Adrenal hypoplasia, congenital; ahc |
P51843
|
| #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
|
| #608584 | Asthma-related traits, susceptibility to, 2 |
Q6W5P4
|
| #208900 | Ataxia-telangiectasia; at |
Q13315
|
| #614740 | Basal cell carcinoma, susceptibility to, 7; bcc7 |
P04637
|
| #614490 | Blood group, junior system; jr |
Q9UNQ0
|
| #114480 | Breast cancer |
P38398
|
| #604370 | Breast-ovarian cancer, familial, susceptibility to, 1; brovca1 |
P38398
|
| #114500 | Colorectal cancer; crc |
P84022
|
| #127750 | Dementia, lewy body; dlb |
P37840
|
| #119900 | Digital clubbing, isolated congenital |
P15428
|
| #609535 | Drug metabolism, poor, cyp2c19-related |
P33261
|
| #608902 | Drug metabolism, poor, cyp2d6-related |
P10635
|
| #133239 | Esophageal cancer |
P04637
|
| #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
|
| #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
|
| #605130 | Hairy elbows, short stature, facial dysmorphism, and developmental delay |
Q03164
|
| #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
|
| #151623 | Li-fraumeni syndrome 1; lfs1 |
P04637
|
| #613795 | Loeys-dietz syndrome, type 3; lds3 |
P84022
|
| #211980 | Lung cancer |
P04637
|
| #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
|
| #607948 | Mycobacterium tuberculosis, susceptibility to |
P11473
|
| #257220 | Niemann-pick disease, type c1; npc1 |
O15118
|
| #166350 | Osseous heteroplasia, progressive; poh |
P63092
|
| #167000 | Ovarian cancer |
P38398
|
| #614320 | Pancreatic cancer, susceptibility to, 4; pnca4 |
P38398
|
| #260500 | Papilloma of choroid plexus; cpp |
P04637
|
| #168601 | Parkinson disease 1, autosomal dominant; park1 |
P37840
|
| #605543 | Parkinson disease 4, autosomal dominant; park4 |
P37840
|
| #168600 | Parkinson disease, late-onset; pd |
P04062
P37840 |
| #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
|
| #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
|
| #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
|
KEGG DISEASE (82)
| 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)
|
| H00066 | Lewy body dementia (LBD) |
P04062
(related)
P37840 (related) |
| H00126 | Gaucher disease |
P04062
(related)
|
| H00426 | Defects in the degradation of ganglioside |
P04062
(related)
|
| H00810 | Progressive myoclonic epilepsy (PME) |
P04062
(related)
|
| H00004 | Chronic myeloid leukemia (CML) |
P04637
(related)
|
| H00005 | Chronic lymphocytic leukemia (CLL) |
P04637
(related)
Q13315 (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)
|
| H00016 | Oral cancer |
P04637
(related)
P04637 (marker) |
| H00017 | Esophageal cancer |
P04637
(related)
P04637 (marker) |
| H00018 | Gastric cancer |
P04637
(related)
|
| H00019 | Pancreatic cancer |
P04637
(related)
P04637 (marker) |
| H00020 | Colorectal cancer |
P04637
(related)
P04637 (marker) |
| H00022 | Bladder cancer |
P04637
(related)
|
| H00025 | Penile cancer |
P04637
(related)
P04637 (marker) |
| H00026 | Endometrial Cancer |
P04637
(related)
|
| H00027 | Ovarian cancer |
P04637
(related)
P38398 (related) |
| H00028 | Choriocarcinoma |
P04637
(related)
|
| H00029 | Vulvar cancer |
P04637
(related)
|
| H00031 | Breast cancer |
P04637
(related)
P38398 (related) |
| H00032 | Thyroid cancer |
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)
|
| H00042 | Glioma |
P04637
(related)
P04637 (marker) |
| H00044 | Cancer of the anal canal |
P04637
(related)
|
| H00046 | Cholangiocarcinoma |
P04637
(related)
|
| H00047 | Gallbladder cancer |
P04637
(related)
|
| H00048 | Hepatocellular carcinoma |
P04637
(related)
|
| H00055 | Laryngeal cancer |
P04637
(related)
P04637 (marker) |
| H00881 | Li-Fraumeni syndrome |
P04637
(related)
|
| H01007 | Choroid plexus papilloma |
P04637
(related)
|
| H00021 | Renal cell carcinoma |
P04637
(marker)
|
| 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)
|
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) |
P16473
(related)
|
| H01269 | Congenital hyperthyroidism |
P16473
(related)
|
| H01171 | Poor drug metabolism (PM) |
P33261
(related)
|
| H00057 | Parkinson's disease (PD) |
P37840
(related)
|
| H00552 | Glycerol kinase deficiency (GKD) |
P51843
(related)
|
| H00607 | 46,XY disorders of sex development (Disorders of gonadal development) |
P51843
(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)
|
| H00064 | Ataxia telangiectasia (AT) |
Q13315
(related)
|
| H00094 | DNA repair defects |
Q13315
(related)
|
| H00848 | Ataxia with ocular apraxia (AOA) |
Q13315
(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)
|
| 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)
|