| UMLS CUI |
UMLS Term |
Proteins |
|
C0000768
|
Congenital Abnormality
|
SLC31A1,
FMR1,
FOLR1,
NOTCH1,
KLF4
|
|
C0001126
|
Renal Tubular Acidosis
|
SLC4A4
|
|
C0001193
|
Apert Syndrome
|
FGFR2
|
|
C0001197
|
Acrodermatitis
|
SLC39A4
|
|
C0001627
|
Congenital Adrenal Hyperplasia
|
CYP17A1,
CYP21A2,
HSD3B2,
AVPR2,
PRKAR1A,
PDE8B
|
|
C0001733
|
Afibrinogenemia
|
FGA,
FGB,
CFI
|
|
C0002066
|
Alkaptonuria
|
HGD
|
|
C0002312
|
Alpha-Thalassemia
|
HBA1,
HBB
|
|
C0002452
|
Amelogenesis Imperfecta
|
FAM83H,
LTBP3
|
|
C0002514
|
Amino Acid Metabolism, Inborn Errors
|
AHCY,
GCLC,
ALDH6A1,
EIF2AK4,
PRODH,
XPC,
SECISBP2,
SLC7A7
|
|
C0002768
|
Congenital Pain Insensitivity
|
NGF,
NTRK1,
SCN9A
|
|
C0002882
|
Anemia, Hemolytic, Congenital Nonspherocytic
|
G6PD,
TPI1
|
|
C0002895
|
Anemia, Sickle Cell
|
DHODH,
HBB,
HP,
NPPB,
BCL11A,
TNF,
UMPS,
VCAM1,
CAD,
NPRL3
|
|
C0002902
|
Anencephaly
|
MTHFR
|
|
C0003076
|
Aniridia
|
ELP4
|
|
C0003466
|
Anus, Imperforate
|
PCSK5
|
|
C0003706
|
Arachnodactyly
|
FBN1,
FZD4
|
|
C0003803
|
Arnold Chiari Malformation
|
ERF
|
|
C0003857
|
Congenital Arteriovenous Malformation
|
RASA1
|
|
C0003868
|
Arthritis, Gouty
|
POMC
|
|
C0004045
|
Asphyxia Neonatorum
|
PSEN1,
PSEN2,
PTGS2,
SOD2
|
|
C0004779
|
Basal Cell Nevus Syndrome
|
GLI2,
SUFU,
PTCH1
|
|
C0004903
|
Beckwith-Wiedemann Syndrome
|
CDKN1C,
KCNQ1OT1,
H19,
IGF2
|
|
C0004943
|
Behcet Syndrome
|
HLA-B,
APOA1,
APOB,
ICAM1,
CXCL8,
IL10,
IL12A,
ITGB2,
SERPINE1,
ERAP1,
TLR4,
C4A,
KLRC4
|
|
C0005129
|
Bernard-Soulier Syndrome
|
GP1BB
|
|
C0005283
|
Beta Thalassemia
|
DHODH,
HBB,
LCN2,
HAMP,
TFR2,
TFRC,
UMPS,
CAD
|
|
C0005411
|
Biliary Atresia
|
GPC1,
HAMP
|
|
C0005859
|
Bloom Syndrome
|
BLM,
UNG
|
|
C0006287
|
Bronchopulmonary Dysplasia
|
POSTN,
STXBP5,
IL1B,
TXN
|
|
C0007001
|
Carbohydrate Metabolism, Inborn Errors
|
PRKAG3
|
|
C0007772
|
Intracranial Arteriovenous Malformation
|
IL6
|
|
C0007959
|
Charcot-Marie-Tooth Disease
|
DCTN1,
DYNC1H1,
SETX,
KIF1B,
HOXD10,
DNAJB2,
HSPB1,
LAMA2,
LMNA,
PMP22,
POLG,
TRPV4,
SBF1,
REEP1,
SH3TC2,
ARHGEF10,
MFN2
|
|
C0008384
|
Cholesterol Ester Storage Disease
|
LIPA
|
|
C0008495
|
Chorioamnionitis
|
IL1A
|
|
C0008525
|
Choroideremia
|
CHM
|
|
C0008626
|
Congenital Chromosomal Disease
|
POT1
|
|
C0008780
|
Ciliary Motility Disorders
|
DNAH5,
IFT122,
INPP5E
|
|
C0008924
|
Cleft Lip
|
SPRY2,
MTHFS,
FGF2,
FGF7,
FGF9,
FGFR1,
FGFR2,
IRF6,
MTHFR,
MTR,
MYC,
NOS3,
PTCH1,
SLC19A1,
TYMS,
MAFB
|
|
C0008925
|
Cleft Palate
|
SPRY2,
MTHFS,
DLG1,
FGF2,
FGF7,
FGF9,
FGFR1,
FGFR2,
IRF6,
MNT,
MTR,
MYC,
NOS3,
PDGFRA,
BNC2,
PTCH1,
SIM2,
SLC19A1,
TGFB1,
TGFB2,
TYMS,
FZD4,
CASK,
CBFB
|
|
C0008928
|
Cleidocranial Dysplasia
|
RUNX2
|
|
C0009081
|
Congenital Clubfoot
|
MTHFR
|
|
C0009363
|
Congenital Ocular Coloboma (Disorder)
|
ABCB6,
YAP1,
LAMB1,
ALDH7A1,
ACTB,
SALL2,
ACTG1
|
|
C0009405
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
MLH3,
MSH6,
APC,
EPCAM,
MLH1,
MSH2,
TGFBR2
|
|
C0010074
|
Coronary Vessel Anomalies
|
GCLC
|
|
C0010273
|
Craniofacial Dysostosis
|
FGFR2
|
|
C0010278
|
Craniosynostosis
|
ERF,
EZH2,
FGFR2,
IFT122,
WDR35,
BMP2,
TCF12,
TWIST1
|
|
C0010308
|
Congenital Hypothyroidism
|
DUOX2
|
|
C0010314
|
Cri-Du-Chat Syndrome
|
SEMA5A
|
|
C0010417
|
Cryptorchidism
|
CHRM3,
GPX4,
HSD3B2,
INSL3,
ATRX
|
|
C0010674
|
Cystic Fibrosis
|
CFTR,
CLCA4,
SCNN1A,
SCNN1G,
TGFB1
|
|
C0010691
|
Cystinuria
|
SLC7A9
|
|
C0010964
|
Dandy-Walker Syndrome
|
FOXC1
|
|
C0011195
|
Dejerine-Sottas Disease (Disorder)
|
EGR2,
PMP22
|
|
C0011436
|
Dentinogenesis Imperfecta
|
DSPP
|
|
C0011615
|
Dermatitis, Atopic
|
KIF3A,
CCDC80,
HLA-B,
IL1B,
IL6,
IL10,
PBX2,
PPARA,
RNF111,
MAPK8,
EMSY,
S100A8,
CCL5,
GPSM3,
SELE,
SLC11A1,
TNXB,
IL18R1,
VNN1,
IL33
|
|
C0011989
|
Camurati-Engelmann Syndrome
|
TGFB1
|
|
C0012236
|
Digeorge Syndrome
|
COMT,
CRKL,
GP1BB,
TBX1,
HIRA,
UFD1L
|
|
C0013069
|
Double Outlet Right Ventricle
|
ZFPM2
|
|
C0013080
|
Down Syndrome
|
DSCR3,
CCT8,
ADAMTS5,
CYYR1,
RCAN1,
ETS2,
MORC3,
GABPA,
C2CD2,
GART,
N6AMT1,
GSTM2,
DONSON,
IFNAR1,
IFNAR2,
IFNGR2,
APP,
CXCL8,
IL10RB,
MIR155,
MTHFR,
MTR,
NCAM2,
ATP5O,
BRWD1,
MIS18A,
CLIC6,
MRAP,
MAP3K7CL,
BACH1,
SCAF4,
JAM2,
S100B,
PRDM15,
SH3BGR,
ITSN1,
SIM2,
SLC5A3,
SLC19A1,
SON,
PRDX2,
TIAM1,
TTC3,
WRB,
TMEM50B,
CHAF1B,
RUNX1,
PSMG1,
CBR1,
SYNJ1,
PAXBP1,
ADAMTS1,
PRDX6,
CRYZL1
|
|
C0013261
|
Duane Retraction Syndrome
|
CHN1
|
|
C0013264
|
Muscular Dystrophy, Duchenne
|
POSTN,
DMD,
CCL2,
TGFB1,
CD4
|
|
C0013274
|
Patent Ductus Arteriosus
|
AGTR1,
PTGIS,
TRAF1
|
|
C0013336
|
Dwarfism
|
PLK4,
HAPLN1,
ORC1
|
|
C0013364
|
Dysautonomia, Familial
|
IKBKAP
|
|
C0013575
|
Ectodermal Dysplasia
|
ITGB4
|
|
C0013581
|
Ectopia Lentis
|
FBN1,
ADAMTSL4
|
|
C0013720
|
Ehlers-Danlos Syndrome
|
COL3A1
|
|
C0013902
|
Elliptocytosis, Hereditary
|
GYPC
|
|
C0013903
|
Ellis-Van Creveld Syndrome
|
EVC
|
|
C0014067
|
Occipital Encephalocele
|
DACT1
|
|
C0014527
|
Epidermolysis Bullosa
|
ITGB4
|
|
C0015306
|
Hereditary Multiple Exostoses
|
EXT1,
EXT2,
PTPN11
|
|
C0015393
|
Eye Abnormalities
|
JAG1,
SH3PXD2B,
APC,
NDST1,
IFT122,
BMPR1A,
TGFB2,
TGFBR2
|
|
C0015398
|
Eye Diseases, Hereditary
|
PLK4,
LRP2,
INPP5E
|
|
C0015499
|
Factor V Deficiency
|
F5
|
|
C0015530
|
Factor Xiii Deficiency
|
F13A1,
F13B
|
|
C0015624
|
Fanconi Syndrome
|
GPX3
|
|
C0015625
|
Fanconi Anemia
|
ERCC4,
FANCD2,
FANCE,
FANCB,
FANCG,
UBE2T,
FANCI,
FANCM,
RAD51C,
BRCA2,
TNF
|
|
C0015702
|
Favism
|
G6PD
|
|
C0015934
|
Fetal Growth Retardation
|
COMT,
AGT,
LINC00908,
IGF1R,
IGF2,
NOS3,
ORC1
|
|
C0016508
|
Congenital Foot Deformity
|
LMNA,
PTHLH
|
|
C0016667
|
Fragile X Syndrome
|
FMR1,
AFF2,
APP
|
|
C0016719
|
Friedreich Ataxia
|
FXN
|
|
C0016756
|
Fructose-1,6-Diphosphatase Deficiency
|
FBP1
|
|
C0016788
|
Fucosidase Deficiency Disease
|
FUCA1
|
|
C0016952
|
Galactosemias
|
GALE,
GALT
|
|
C0017097
|
Gardner Syndrome
|
APC
|
|
C0017205
|
Gaucher Disease
|
CHIT1,
ACE,
SNCA
|
|
C0017495
|
Gerstmann-Straussler-Scheinker Disease
|
PRNP
|
|
C0017919
|
Glycogen Storage Disease
|
PHKA2
|
|
C0017920
|
Glycogen Storage Disease Type I
|
G6PC
|
|
C0017921
|
Glycogen Storage Disease Type Ii
|
GAA
|
|
C0017922
|
Glycogen Storage Disease Type Iii
|
AGL,
GBE1
|
|
C0017923
|
Glycogen Storage Disease Type Iv
|
GBE1
|
|
C0017924
|
Glycogen Storage Disease Type V
|
ACE,
PYGM
|
|
C0017927
|
Glycogen Storage Disease Type Viii
|
PHKA2
|
|
C0018051
|
Gonadal Dysgenesis
|
FMR1
|
|
C0018099
|
Gout
|
ALDH16A1,
FGFR2,
IL1B,
CD14
|
|
C0018203
|
Chronic Granulomatous Disease
|
CYBB,
G6PD,
NCF2,
NCF4
|
|
C0018522
|
Hallermann'S Syndrome
|
GJA1
|