| UMLS CUI |
UMLS Term |
Proteins |
|
C1621920
|
Intermediate Maple Syrup Urine Disease
|
PPM1K,
DBT,
BCKDHA,
BCKDHB
|
|
C1691228
|
Cystic Kidney Diseases
|
SDCCAG8,
INS
|
|
C1704299
|
Hypobetalipoproteinemia, Familial, Apolipoprotein B
|
APOB
|
|
C1704417
|
Hyperlipoproteinemia Type Iib
|
APOB
|
|
C1704423
|
Milroy Disease
|
FLT4,
VEGFC
|
|
C1704429
|
Hypoalphalipoproteinemia, Familial
|
ABCA1,
APOA1
|
|
C1704436
|
Peripheral Arterial Diseases
|
OSBPL10
|
|
C1706595
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
KRT16
|
|
C1708349
|
Hereditary Diffuse Gastric Cancer
|
CTNNA1
|
|
C1720821
|
Membranoproliferative Glomerulonephritis, Type Iii
|
CFH
|
|
C1720824
|
Sudden Cardiac Arrest
|
ZNF385B,
ESR1,
ARL5B,
KCTD1,
ATF1,
MAML2,
AP1G2
|
|
C1720859
|
Familial Partial Lipodystrophy, Type 1
|
LMNA
|
|
C1720860
|
Familial Partial Lipodystrophy, Type 2
|
LMNA
|
|
C1720861
|
Familial Partial Lipodystrophy, Type 3
|
PPARG
|
|
C1720864
|
Sulfatidosis, Juvenile, Austin Type
|
SUMF1
|
|
C1720887
|
Female Urogenital Diseases
|
EMX2,
ESR1,
AMH,
AMHR2,
HOXA10,
IGF1,
LIF,
BMPR1A,
TIMP1,
WNT5A
|
|
C1720958
|
Hyper-Igm Immunodeficiency Syndrome, Type 5
|
UNG
|
|
C1720965
|
Ectodermal Dysplasia 3, Anhidrotic
|
EDARADD
|
|
C1721005
|
Leukokeratosis, Hereditary Mucosal
|
KRT13
|
|
C1721006
|
Keratoderma, Palmoplantar, Epidermolytic
|
KRT1,
KRT9,
KRT16
|
|
C1721007
|
Pachyonychia Congenita, Type 2 (Disorder)
|
KRT17
|
|
C1800706
|
Idiopathic Pulmonary Fibrosis
|
FAM13A,
DSP,
PARN,
PLAU,
TOLLIP,
SFTPC,
OBFC1
|
|
C1802395
|
Congenital Muscular Hypertrophy-Cerebral Syndrome
|
SMC1A
|
|
C1833340
|
Synostotic Posterior Plagiocephaly
|
ERF
|
|
C1836373
|
Muscular Dystrophy, Limb-Girdle, Type 2K
|
POMT1
|
|
C1836635
|
Loeys-Dietz Aortic Aneurysm Syndrome
|
TGFBR1
|
|
C1838244
|
Tibial Muscular Dystrophy, Tardive
|
TTN
|
|
C1839259
|
Bulbo-Spinal Atrophy, X-Linked
|
AR
|
|
C1845168
|
Hypophosphatemic Rickets, X-Linked Recessive
|
CLCN5
|
|
C1846545
|
Autoimmune Lymphoproliferative Syndrome Type 2B
|
CASP8
|
|
C1848201
|
Subcortical Band Heterotopia
|
EML1
|
|
C1848213
|
Periventricular Heterotopia, X-Linked
|
FLNA
|
|
C1853099
|
Cornelia De Lange Syndrome 3
|
SMC3
|
|
C1857761
|
Alagille Syndrome 2
|
NOTCH2
|
|
C1858991
|
Childhood Ataxia With Central Nervous System Hypomyelinization
|
EIF2B1,
EIF2B4,
EIF2B3,
EIF2B5
|
|
C1861172
|
Venous Thromboembolism
|
NEBL,
PROCR,
AK4,
F2,
F5,
EFEMP1,
FGA,
FGF14,
FGG,
ZFPM2,
NME7,
SERPINC1,
PLAT,
BRWD1,
SLC44A2,
TNF,
YEATS4,
RAB11FIP3
|
|
C1861922
|
Campomelic Dysplasia
|
SOX9
|
|
C1861923
|
Acampomelic Campomelic Dysplasia
|
SOX9
|
|
C1862892
|
Hereditary Angioedema Type Ii
|
SERPING1
|
|
C1864100
|
Pseudohypoparathyroidism, Type Ib
|
GNAS
|
|
C1866398
|
Proteus-Like Syndrome (Disorder)
|
PTEN
|
|
C1866504
|
Photosensitive Trichothiodystrophy
|
MPLKIP,
ERCC2
|
|
C1867983
|
Porencephaly, Familial
|
COL4A2
|
|
C1868675
|
Parkinson Disease 2, Autosomal Recessive Juvenile
|
PARK2
|
|
C1868720
|
Periventricular Nodular Heterotopia
|
ARFGEF2,
FLNA
|
|
C1869114
|
Weill-Marchesani Syndrome, Autosomal Recessive
|
ADAMTS10
|
|
C1869115
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
FBN1
|
|
C1879526
|
Aberrant Crypt Foci
|
CTNNB1,
GCG,
APC
|
|
C1955869
|
Malformations Of Cortical Development
|
AKT3,
DYNC1H1,
NDST1,
TUBB2B,
KIF5C,
PIK3CA,
TUBG1
|
|
C1955870
|
Classical Lissencephalies And Subcortical Band Heterotopias
|
MNT,
YWHAE
|
|
C1955906
|
Lymphoma, Extranodal Nk-T-Cell
|
CFLAR
|
|
C1955934
|
Trichothiodystrophy Syndromes
|
MPLKIP,
ERCC2
|
|
C1956097
|
Wolf-Hirschhorn Syndrome
|
LETM1,
WHSC1
|
|
C1956125
|
Alagille Syndrome 1
|
JAG1
|
|
C1956346
|
Coronary Artery Disease
|
SH2B3,
TRIB1,
CDKN2B,
ADAMTS7,
APOA5,
CRP,
ACE,
ESR1,
ESR2,
ANKS1A,
DDAH2,
PCSK9,
GNB3,
HECTD4,
HMOX1,
APCS,
APOC3,
IRAK1,
IRS1,
LDLR,
LIPA,
LPL,
NOS3,
NPPB,
ATP2B1,
PAPPA,
PON1,
CNNM2,
WDR12,
PTGS2,
CCL2,
CXCL12,
ABCG8,
SLC22A3,
SMARCA4,
TCF21,
TLR4,
VEGFA,
PDGFD,
PLPP3,
KL,
GDF15,
CD40LG
|
|
C1956391
|
Temporal Arteritis
|
PTPN22
|
|
C1959582
|
Pten Hamartoma Tumor Syndrome
|
PTEN
|
|
C1959620
|
Dihydropyrimidine Dehydrogenase Deficiency
|
DPYD
|
|
C1959626
|
Mevalonic Aciduria
|
MVK
|
|
C1961099
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
|
IL7R,
LMO2,
CNOT3,
NOTCH1,
PTPN2,
BAX,
RPL5,
RPL10,
TAL1,
BCL10
|
|
C1961102
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
CDK6,
IKZF1,
CYP1B1,
NQO1,
EPHX1,
P2RY8,
HLF,
IDH1,
ARNT,
MTHFR,
PIP4K2A,
PAG1,
RB1,
BCR,
SLC19A1,
TCF3,
TP53,
WHSC1,
CASP8,
ARID5B,
RUNX1
|
|
C1968689
|
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
|
DOCK8
|
|
C1969342
|
Pulmonary Hypertension, Primary, Dexfenfluramine-Associated
|
BMPR2
|
|
C1969343
|
Pulmonary Hypertension, Primary, Fenfluramine-Associated
|
BMPR2
|
|
C2239176
|
Liver Carcinoma
|
MICA,
CDH13,
CDKN1B,
CDKN3,
FST,
ATP5H,
CEBPB,
CEBPD,
UBD,
HTATIP2,
IQGAP2,
ERP29,
THEM4,
JDP2,
COMT,
CRP,
CTNNB1,
CTSD,
CYLD,
CYP1A1,
CYP2E1,
CYP17A1,
ACE,
AKR1C2,
DPYD,
E2F1,
EGFR,
A2M,
ENO1,
EPHX1,
ESR1,
F2,
FABP5,
ACSL4,
FASN,
FBP1,
FDFT1,
FOXM1,
KIF1B,
FOS,
GAPDH,
SFN,
PYCARD,
PDIA3,
GSTM1,
GSTP1,
ANXA4,
HGF,
HMGB2,
HMGCR,
APC,
APCS,
HSD3B2,
HSPA5,
HSPB1,
BIRC5,
APOA1,
IDH1,
IGBP1,
IGF1R,
IGF2,
IGF2R,
CYR61,
IL6,
CXCL8,
IRS1,
AR,
JUN,
KRAS,
LETM1,
MET,
MMP2,
MMP9,
MPO,
MT2A,
MVK,
MYC,
NME1,
ACO2,
ACOX1,
PCK1,
PDGFB,
PGD,
PGK1,
PHB,
SERPINA1,
PIK3CA,
PKM,
PPARG,
PPP1R1A,
PTGS2,
PTK2,
ARID1B,
MTUS1,
KMT2C,
RAC1,
RB1,
ACTB,
RPS6,
RRM1,
RRM2,
SCD,
CCL3,
BID,
CXCL12,
HHIP,
SKP2,
SLC2A1,
SLC5A5,
SOD2,
SREBF1,
SREBF2,
TALDO1,
PRDX2,
TGFA,
TGFB1,
TH,
TP53,
TYMS,
UCHL1,
UMPS,
NR1H2,
VCAM1,
ZNF23,
CA2,
BTG2,
TFPI2,
CD276,
ARID1A,
AXIN1,
TATDN1,
TAGLN2,
CASP8,
NR0B2,
IRS2,
PNPT1,
CBR1,
TNFSF10,
IQGAP1,
CCNA1,
SOCS3,
USP2,
SLIT2,
ADAMTS1,
GDF15,
PRDX6,
KMT2B,
FGF19,
NR1H4
|
|
C2267227
|
Bulimia Nervosa
|
CHODL,
BDNF
|
|
C2316212
|
Cryopyrin-Associated Periodic Syndromes
|
MME
|
|
C2350233
|
Antley-Bixler Syndrome Phenotype
|
FGFR2
|
|
C2584774
|
Congenital Hypofibrinogenemia
|
FGA,
FGB,
FGG
|
|
C2607914
|
Allergic Rhinitis (Disorder)
|
ABCA1,
LAMA3,
RBFOX1,
FTO,
ENTPD6
|
|
C2607929
|
Carney Complex, Type 1
|
PRKAR1A
|
|
C2609414
|
Acute Kidney Injury
|
OCLN,
GPNMB,
FSTL1,
CLU,
CST3,
CYP2C9,
CYP2D6,
HBEGF,
EDN1,
EGFR,
A2M,
ALB,
G6PD,
AMBP,
GAS6,
GFER,
GSK3B,
GSTM2,
GSTP1,
HMOX1,
HSPA1A,
IGF1,
IGFBP1,
IL6,
IL10,
INS,
KNG1,
LCN2,
MPO,
MTHFR,
NOS3,
TNFRSF12A,
PPARG,
B2M,
BAX,
SLC11A1,
SPP1,
TGFB1,
TNF,
TP53,
VEGFA,
CD44
|
|
C2678439
|
Cranioosteoarthropathy
|
HPGD
|
|
C2697932
|
Loeys-Dietz Syndrome
|
SMAD3,
TGFB2,
TGFBR1,
TGFBR2
|
|
C2700553
|
Omenn Syndrome
|
ADA,
IL7R,
CHD7,
RAG1,
DCLRE1C
|
|
C2713347
|
7-Dehydrocholesterol Reductase Deficiency
|
DHCR7
|
|
C2713442
|
Polyposis, Adenomatous Intestinal
|
APC
|
|
C2717836
|
Steroid Sulfatase Deficiency Disease
|
STS
|
|
C2717905
|
Hereditary Angioedema Types I And Ii
|
SERPING1,
C1S
|
|
C2717906
|
Hereditary Angioedema Type I
|
SERPING1
|
|
C2717961
|
Thrombotic Microangiopathies
|
VEGFA
|
|
C2745948
|
Hyalinosis, Systemic
|
ANTXR2
|
|
C2745963
|
Kashin-Beck Disease
|
ITPR2
|
|
C2748895
|
Ovotesticular Disorders Of Sex Development
|
SOX9
|
|
C2751306
|
Polycystic Kidney Disease, Type 2
|
PKD2
|
|
C2751824
|
46, Xy Disorders Of Sex Development
|
CYP11A1,
LHCGR
|
|
C2919945
|
Cavernous Hemangioma Of Brain
|
KRIT1
|
|
C2931196
|
Craniofacial Dysostosis Type 1
|
ERF,
FGFR2
|
|
C2931618
|
Gestational Trophoblastic Disease
|
POU5F1
|
|
C2931735
|
Epidermolytic Palmoplantar Keratoderma Vorner Type
|
KRT1,
KRT9,
KRT16
|
|
C2931788
|
Atypical Hemolytic Uremic Syndrome
|
CFH,
CFHR1,
CFI,
CD46,
CFB,
C3
|
|
C2931833
|
Hyperinsulinemic Hypoglycemia, Familial, 2
|
KCNJ11
|
|
C2936346
|
22Q11 Deletion Syndrome
|
COMT,
GP1BB,
TBX1,
HIRA,
UFD1L
|
|
C2936349
|
Plaque, Amyloid
|
APP,
MAOB
|
|
C2936350
|
Plaque, Atherosclerotic
|
PARP1,
APOE,
BSG
|
|
C2936380
|
Neointima
|
AGT,
MMP2,
MMP9
|
|
C2936403
|
46, Xx Disorders Of Sex Development
|
NR3C1
|
|
C2936419
|
46, Xx Testicular Disorders Of Sex Development
|
SOX9
|
|
C2936694
|
Swyer Syndrome
|
NR0B1,
DHH,
SOX9
|
|
C2936739
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
STAT3
|