Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0043346 (xeroderma pigmentosum)
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Human Gene/Protein
trichothiodystrophy 12.6
XPCC 12.6
XPV 12.5
ERCC4 protein 12.4
progestin and adipoQ receptor family member III 12.4
XPA binding protein 1 12.1
XPE 12.1
DNA repair endonuclease XPF 12.0
GTF2H5 12.0
RNASE6PL 11.8
ERCC2 protein 11.8
growth arrest and DNA-damage-inducible beta 11.8
X-ray repair cross-complementing protein 3 11.8
POLH 11.8
XPA 11.7
XPG 11.7
XPB 11.7
RAD30B 11.6
XAB2 protein 11.6
excision repair cross-complementing rodent repair deficiency, complementation group 2 11.4
ERCC3 11.4
HUEL 11.4
Transcription factor II H 11.4
HELD 11.4
pygopus 2 11.4
HSSB 11.3
XPD 11.2
XPC 11.2
transcription factor TFIIH 11.2
BTF2 11.2
DDB2 11.1
WDR76 11.1
OMCG1 11.1
POLD 11.1
CLEC2A 11.1
DNA polymerase eta 11.1
xeroderma pigmentosum variant 11.0
HR23B 11.0
excision repair cross-complementing 1 10.9
transcription factor II H 10.9
hHR23B 10.9
XPF 10.8
XAB2 10.8
PARP-10 10.8
RAD23 homolog B 10.8
p33ING2 10.8
FHOD1 10.8
cullin 4A 10.8
TFIIH 10.7
DNA damage-binding protein 2 10.7
ERCC4 10.6
ERCC5 10.6
ERCC2 10.5
xeroderma pigmentosum, complementation group C 10.4
Micrococcus luteus UV endonuclease 10.4
chromobox homolog 4 10.4
PPIE 10.4
hHR23A 10.3
RAD26 10.3
xeroderma pigmentosum D 10.2
HHR23A 10.2
cullin 4B 10.2
Bloom syndrome 10.1
NER 10.1
xeroderma pigmentosum complementary group D 10.0
OTUD4 10.0
RAD23B 9.9
DDB1 9.9
DDX11 9.8
UV20 9.7
ERCC1 9.7
PATCHED 9.6
RNF135 9.6
ERCC1 protein 9.5
hRad50 9.5
BCR protein 9.5
hRAD54 9.5
CSB 9.5
CAK 9.4
SLC30A9 9.4
CEN2 9.4
NPS1 9.3
ERCC8 9.3
p48 9.3
AD 2 9.2
TFB1 9.2
CG6 9.2
RECQ1 9.2
BRCAI 9.2
high mobility group 1 protein 9.1
TFIIE-beta 9.0
deoxycytidyl transferase 9.0
POLD2 9.0
Ribosomal protein S3 9.0
KIN17 8.9
PAQR3 8.9
excision repair protein 8.9
TTD 8.7
caltractin 8.7
synaptonemal complex protein 1 8.7
SF3B3 8.7
damage-specific DNA binding protein 1 8.7
tpr 8.6
HD2 8.6
UBA2 8.6
centrin 8.5
ALKBH2 8.5
polyadenylation specificity factor 8.5
FANCJ 8.5
ERCC6 8.5
CUL4A 8.5
DNA polymerase iota 8.4
photolyase 8.4
melanoma antigen MART-1 8.4
Werner syndrome 8.4
Pol iota 8.4
MMS19 8.4
RPA32 8.3
RPA70 8.3
NFE2L1 8.3
MT-CO2 8.3
aprt 8.2
single stranded DNA binding protein 8.2
CSNK2A1 8.2
DNA helicase 8.2
delta globin 8.2
Fukutin-related protein 8.2
FECH 8.1
SASH1 8.1
K222 8.1
AP lyase 8.1
MF1 8.1
ARCH 8.0
RTEL1 8.0
PARP10 8.0
adenylate kinase 1 8.0
Cardiac ankyrin repeat protein 8.0
ACF1 7.9
tyrosyl-DNA phosphodiesterase 1 7.9
CS-2 7.9
DNA ligase 1 7.9
cyclin-related 7.8
UVRAG 7.8
CDK-activating kinase 7.8
DNA repair protein 7.8
nuclear autoantigen 7.8
telomeric repeat binding factor 1 7.7
SPT3 7.7
cytochrome P450 3A5 7.7
TIE1 7.7
flap endonuclease 1 7.6
RP-A 7.6
WD-repeat protein 7.5
Li-Fraumeni syndrome 7.5
RAD1 7.5
aprataxin 7.5
ribosomal protein S3 7.5
Kindlin-1 7.5
ENY2 7.5
SUG1 7.5
more...
Disease
xeroderma pigmentosum 13.4
Pigmented xerodermoid 13.4
Idiopathic photodermatosis 13.4
XPG/CS 13.4
XPV 12.7
XP-A 12.7
trichothiodystrophy 12.7
Nevi and melanomas 12.4
physical developmental delay 12.4
Cockayne syndrome 12.0
XPE 12.0
XPG 11.9
Phylloid hypomelanosis 11.8
XPB 11.8
brittle hair 11.6
precancerous dermatosis 11.6
XPD 11.6
XPI 11.4
Photodermatosis 11.4
XPF 11.1
Haber's syndrome 10.8
solar skin damage 10.6
Xeroderma 10.5
neoplasm of the eye 10.4
Xeroderma pigmentosum group C 10.4
Chronic radiodermatitis 10.0
X-linked alpha-thalassemia/mental retardation syndrome 9.6
CSB 9.5
CSB 9.4
WWS 9.2
freckles 9.2
Fanconi syndrome 8.8
Bazex syndrome 8.7
Oral carcinoma 8.7
FANCJ 8.6
skin cancer 8.6
nevoid basal cell carcinoma syndrome 8.6
FUSE 8.6
RTS 8.5
poikiloderma 8.5
inverted follicular keratosis 8.5
XRN 8.5
MSSE 8.5
BLM 8.5
Atypical fibroxanthoma 8.4
hypoglobulinemia 8.4
dysplastic nevi 8.3
progeria 8.3
Ichthyosis vulgaris 8.2
ainhum 8.1
photosensitivity 8.1
Ophthalmomyiasis 8.0
epidermodysplasia verruciformis 7.9
Actinic cheilitis 7.9
Laugier-Hunziker syndrome 7.8
preneoplastic state 7.8
WRN 7.7
premature aging 7.7
Epidermal nevus syndrome 7.7
dyskeratosis congenita 7.6
eye cancer 7.5
Fanconi 7.4
nonmelanoma skin cancer 7.4
BGS 7.4
porokeratosis 7.4
nodular malignant melanoma 7.3
pellagra 7.3
ichthyosis 7.2
MEV 7.2
keratosis 7.1
basal cell carcinoma 7.1
squamous cell carcinoma of the skin 7.1
ichthyosis 7.1
Li-Fraumeni syndrome 7.0
pinguecula 7.0
environmental carcinogenesis 7.0
CSA 7.0
ATM 7.0
melanoma in situ 6.9
iris melanoma 6.9
lentigo 6.9
LEOPARD syndrome 6.8
JMS 6.8
Taybi 6.8
HND 6.8
keratoacanthoma 6.7
epithelioma 6.7
Multiple tumors 6.7
KID syndrome 6.7
Seckel syndrome 6.7
Basaloid squamous cell carcinoma 6.7
FANCD1 6.6
monosomy 21 6.6
Gardner's syndrome 6.6
Lentigo maligna 6.6
Keratoacanthoma 6.6
myelinopathy 6.5
photodermatitis 6.4
skin tumor 6.3
hyperglycinemia 6.3
RBS 6.3
Fukuyama congenital muscular dystrophy 6.2
mouse leukemia L1210 6.2
xerosis 6.1
cheilitis 6.1
carcinoma of the tongue 6.0
Lesch-Nyhan syndrome 6.0
bullous dermatoses 5.9
genetic disorder 5.9
dyschromia 5.8
testicular teratoma 5.8
prurigo 5.8
chemical carcinogenesis 5.8
familial cancer 5.8
erythropoietic protoporphyria 5.7
delayed speech 5.6
oral leukoplakia 5.6
BOS 5.6
collagenosis 5.5
NBS 5.5
carcinogenesis 5.5
torsion dystonia 5.5
Netherton syndrome 5.5
melanosis 5.5
olivopontocerebellar atrophy 5.5
epidermolysis bullosa 5.5
Angiosarcoma 5.4
conjunctiva 5.4
incontinentia pigmenti 5.4
keratosis 5.4
radiation carcinogenesis 5.4
Werdnig-Hoffmann disease 5.4
scleromyxedema 5.3
osteochondromatosis 5.3
RSS 5.3
seborrheic keratosis 5.3
CNS cancer 5.3
cutaneous melanoma 5.3
low IQ 5.2
schizencephaly 5.2
porphyria 5.2
Cowden syndrome 5.2
trichiasis 5.2
orphan disease 5.1
melasma 5.1
ochronosis 5.1
presenile dementia 5.0
Darier's disease 5.0
Bowen's disease 5.0
OFC 5.0
neuronal ceroid lipofuscinosis 4.9
caruncle 4.9
squamous cell carcinoma 4.9
morphea 4.9
DIG 4.8
neck cancer 4.8
ocular melanoma 4.8
Hailey-Hailey disease 4.8
herpes labialis 4.8
dermatofibroma 4.7
more...
Symptom
hidroa 11.4
Inspiratory stridor 10.6
Cri du chat 10.6
prominent nose 7.0
scaly skin 7.0
photophobia 6.4
skin damage 6.0
athetosis 5.4
erythema 5.2
chorea 4.4
Decreased activity 4.4
stridor 4.2
ataxia 4.2
cerebellar ataxia 3.9
muscle cramps 3.6
cachexia 3.5
dysarthria 3.5
blepharospasm 3.4
spasticity 3.3
abnormal gait 3.3
ophthalmoplegia 2.7
dystonia 2.7
hypotonia 1.9
myoclonus 1.3
ENT 1.0
collapse 0.9
paresis 0.9
tremor 0.2
weakness 0.2
nausea and vomiting 0.2
Ill -0.0
starvation -0.2
sleepiness -0.2
stigma -0.3
exhaustion -0.3
anesthesia -0.5
vomiting -0.5
nausea -1.1
dyspnea -1.4
analgesia -1.4
seizures -1.9
fatigue -2.2
pain -3.0
Drug
Pyridoxamine phosphate 12.4
Anthramycin 9.1
Neocarzinostatin 7.6
Acitretin 7.2
Ara-A 6.6
Trabectedin 6.2
Dithranol 6.1
-deoxyadenosine 6.0
Gemzar 5.9
Tarceva 5.7
G418 5.6
Photofrin II 5.4
Imiquimod 5.4
BLM 5.3
Oxaliplatin 5.2
Mutagen 5.1
Amifostine 4.9
Tannic acid 4.8
AGG 4.8
caffeine 4.7
ZnCl2 4.6
ZnCl2 4.6
Fludarabine 4.5
Hypaque 4.3
Etoposide 4.3
Hypaque 4.1
Arsenic trioxide 4.1
Isotretinoin 4.0
Bortezomib 3.9
Erlotinib 3.9
GEO 3.8
TEL 3.8
Dermatol 3.6
AraC 3.4
Asn 3.4
Retinoic acid 3.3
TAT 3.2
Serum albumin 3.1
Vitamin B 3.1
TAC 2.8
PTC 2.6
ADR 2.4
MDS 2.3
Herceptin 2.3
pyridoxal phosphate 2.1
DNase I 2.0
ALA 2.0
nitroglycerin 1.9
IFN-beta 1.9
Vitamin A 1.8
ROS 1.8
MRC 1.7
niacin 1.5
THF 1.4
ABC 1.3
Adriamycin 1.2
Gel 1.1
Indomethacin 0.8
NH3 0.6
ENT 0.3
lysine 0.2
ascorbate -0.1
ampicillin -0.6
Monit -0.7
vitamin E -0.7
CSF -1.5
Enzyme
endonuclease V 9.4
AP lyase 8.5
ATase 8.1
deoxyribonuclease 7.9
PRE 7.4
PAT 7.1
Fpg protein 7.0
hypoxanthine-guanine phosphoribosyltransferase 6.4
endodeoxyribonuclease 6.3
DNA ligase 6.3
DNA ligase 6.3
endonuclease 6.3
endonuclease VII 5.7
DNA polymerase 5.7
chloramphenicol acetyltransferase 5.6
adenine phosphoribosyltransferase 5.0
transaldolase 4.8
3'-exonuclease 4.8
micrococcal nuclease 4.8
dihydrofolate reductase 4.7
DNase 4.7
CGT 4.6
factor D 4.6
interstitial collagenase 4.5
TGT 4.4
SPT 4.3
RNA polymerase 4.3
ADPase 4.3
topoisomerase 4.3
S1 nuclease 4.2
arylsulfatase A 4.1
factor C 4.1
topoisomerase 4.1
polynucleotide kinase 4.0
histone acetyltransferase 4.0
argininosuccinate synthetase 4.0
cdc2 4.0
ubiquitin-protein ligase 3.8
dihydropyrimidine dehydrogenase 3.8
SPT 3.6
TdT 3.5
ribonucleotide reductase 3.5
ribonucleotide reductase 3.4
adenosine deaminase 3.4
adenosine deaminase 3.4
methylenetetrahydrofolate reductase 3.4
methylenetetrahydrofolate reductase 3.4
PARP 3.3
TAT 3.2
thioredoxin reductase 3.1
dihydropyrimidine dehydrogenase 3.1
thymidine kinase 3.1
proteasome 3.1
beta-galactosidase 3.0
dopamine beta-hydroxylase 3.0
MAT 2.9
protein phosphatase 2A 2.8
PNGase F 2.8
deoxyribonuclease 2.8
apyrase 2.8
NQO1 2.8
catalase 2.8
MAT 2.6
PDE 2.6
MEKK1 2.6
proteinase K 2.4
APC 2.4
ornithine decarboxylase 2.4
phosphoglycerate kinase 2.3
ribonuclease 2.3
ribonuclease 2.3
glutathione S-transferase 2.1
peroxiredoxin 2.0
RNase 2.0
RNase H 2.0
calcineurin 1.9
luciferase 1.9
ATPase 1.9
RNase 1.9
CPT 1.8
sulfatase 1.8
CPT 1.6
thymidylate synthase 1.6
MMP 1.4
glyceraldehyde-3-phosphate dehydrogenase 1.3
glyceraldehyde-3-phosphate dehydrogenase 1.3
glutathione peroxidase 1.3
complex I 1.3
CPT 1.2
collagenase 1.2
glyceraldehyde-3-phosphate dehydrogenase 1.2
IKK 1.2
MIP 1.2
NADPH oxidase 1.1
glyceraldehyde-3-phosphate dehydrogenase 1.0
NADPH oxidase 0.9
phosphoinositide 3-kinase 0.9
MEK 0.8
caspase-1 0.8
focal adhesion kinase 0.8
ERK 0.8
glyceraldehyde-3-phosphate dehydrogenase 0.7
aldehyde dehydrogenase 0.7
protein kinase 0.7
ATP synthase 0.6
urease 0.5
glucose-6-phosphate dehydrogenase 0.5
reverse transcriptase 0.5
succinate dehydrogenase 0.4
superoxide dismutase 0.4
cytochrome oxidase 0.3
caspase-3 0.3
tyrosinase 0.3
phosphodiesterase 0.2
transcriptase 0.2
glutathione reductase 0.2
urokinase-type plasminogen activator 0.0
phosphatidylinositol 3-kinase -0.0
mitogen-activated protein kinase -0.1
AMP-activated protein kinase -0.3
lactate dehydrogenase -0.4
tyrosine hydroxylase -0.4
NO synthase -0.5
alkaline phosphatase -0.6
lysozyme -1.0
ACS -1.9
trypsin -2.0
peroxidase -2.6
Compound
XPA 11.0
XPA 11.0
Soriatane 10.1
Pyridoxamine 5'-phosphate 10.0
Benzyl chloride 9.2
5-methylnicotinamide 9.0
8-Hydroxyguanine 8.5
Angelicin 8.0
Levobupivacaine 7.9
Psoralen 7.7
Novobiocin 7.7
Neocarzinostatin 7.7
Glycerophosphocholine 7.6
Aphidicolin 7.5
Aphidicolin 7.5
pyrimidine 7.3
pyrimidine 7.3
Phloroglucinol 7.3
PAT 7.3
1-pyrenol 7.2
4-NQO 7.2
alpha-Amanitin 7.2
Phloroglucinol 7.2
MEV 7.1
Mimosine 7.1
Mimosine 7.0
13-cis-Retinoic acid 7.0
SHB 6.8
methyl methanesulfonate 6.8
dUDP 6.5
AAF 6.4
NOP 6.4
6-Thioguanine 6.4
Selenate 6.3
Lomefloxacin 6.2
DBC 6.2
Dithranol 6.1
Etretinate 6.0
MNNG 5.9
Daunomycin 5.9
Benzo[a]pyrene 5.9
3-aminobenzamide 5.9
dUMP 5.7
phosphonoacetic acid 5.6
Acrolein 5.6
Ara-A 5.5
MOP 5.5
PBG 5.5
Ecdysone 5.4
PALA 5.4
m-AMSA 5.4
TTS 5.3
dGMP 5.3
5H-pyrido[4,3-b]indole 5.3
BLM 5.3
Nitrofurantoin 5.2
Bantu 5.2
Trp-P-2 5.2
Deoxyribonucleic acid 5.2
Arsenite 5.1
dCMP 5.1
Cyd 5.0
Sitosterol 5.0
MMC 5.0
DAMP 4.9
Ribose 4.9
Thymine 4.9
BUdR 4.9
EMS 4.9
Amifostine 4.9
Photofrin II 4.9
Pyridoxine 4.9
DNA 4.8
Hydroxyurea 4.8
pyrene 4.8
ENU 4.8
Ellagic acid 4.8
HN2 4.8
TGT 4.7
DDP 4.7
caffeine 4.7
Quinacrine 4.6
SP-1 4.6
ADP-ribose 4.6
tetraphosphate 4.6
MMA 4.5
Daunorubicin 4.4
FAP 4.4
FAP 4.4
[1,10]phenanthroline 4.4
dATP 4.4
Quinacrine 4.3
Astaxanthin 4.3
AF-2 4.3
TTP 4.3
MMA 4.3
SPF 4.2
DBD 4.2
anthracene 4.1
Hypaque 4.1
aflatoxin B1 4.0
PPA 4.0
Spironolactone 3.9
Uracil 3.9
L-PAM 3.8
L-PAM 3.8
Uridine 3.8
TEL 3.8
Cycloheximide 3.8
Arsenic 3.8
MMA 3.7
Temozolomide 3.7
CAT 3.7
CAT 3.7
SCC 3.7
AICAR 3.7
CHIP 3.7
CAT 3.6
TCC 3.6
CCC 3.5
CCC 3.5
dimethylarsinic acid 3.5
dimethylarsinic acid 3.5
dimethylarsinic acid 3.5
dimethylarsinic acid 3.5
Purine 3.5
dimethylarsinic acid 3.5
TPA 3.5
DMA 3.5
NEM 3.5
DMA 3.5
TMP 3.5
Silymarin 3.4
SSM 3.4
PABA 3.4
Azathioprine 3.4
TMP 3.4
TMP 3.4
VP-16 3.4
Mendel 3.4
dimethylarsinic acid 3.3
8-OHdG 3.3
HBr 3.3
Ruthenium 3.3
Ruthenium 3.3
TPA 3.3
DCC 3.2
ABL 3.2
DMA 3.2
Lewis X 3.2
CoQ 3.1
A 1 3.1
PAR 3.1
Halothane 3.0
Ubiquitin 3.0
TBP 3.0
dGTP 3.0
Lip 3.0
Chlorpromazine 2.9
Guanine 2.9
more...