|
OMIM |
Link |
Information gain |
01 |
|
IGAD1
|
[NCBI]
|
0.0043228
|
|
|
reticular dysgenesia
|
[NCBI]
|
0.00417296
|
|
|
ADA
|
[NCBI]
|
0.00302544
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
0.00298549
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
0.00197059
|
|
|
natural killer cell deficiency, familial isolated
|
[NCBI]
|
0.00182137
|
|
|
trichohepatoenteric syndrome
|
[NCBI]
|
0.00138638
|
|
|
bare lymphocyte syndrome, type ii
|
[NCBI]
|
0.0011698
|
|
|
CVID
|
[NCBI]
|
0.0011479
|
|
|
HIGM1
|
[NCBI]
|
0.00114452
|
|
|
immune defect due to absence of thymus
|
[NCBI]
|
0.00107507
|
|
|
RA
|
[NCBI]
|
0.00101878
|
|
|
immunoneurologic disorder, x-linked
|
[NCBI]
|
0.000907885
|
|
|
CHH
|
[NCBI]
|
0.00078007
|
|
|
SCIDX1
|
[NCBI]
|
0.000752192
|
|
|
DGS
|
[NCBI]
|
0.000681391
|
|
|
NAD
|
[NCBI]
|
0.000608619
|
|
|
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
|
[NCBI]
|
0.000608619
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
0.000600101
|
|
|
omenn syndrome
|
[NCBI]
|
0.000570685
|
|
|
candidiasis, familial chronic mucocutaneous, autosomal recessive
|
[NCBI]
|
0.000555675
|
|
|
NP
|
[NCBI]
|
0.000553077
|
|
|
LAD
|
[NCBI]
|
0.000549658
|
|
|
DNMT3B
|
[NCBI]
|
0.000491316
|
|
|
candidiasis, familial chronic mucocutaneous, autosomal dominant
|
[NCBI]
|
0.000459406
|
|
|
WAS
|
[NCBI]
|
0.000438656
|
|
|
GS2
|
[NCBI]
|
0.000387266
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000385833
|
|
|
ITGB2
|
[NCBI]
|
0.00038412
|
|
|
CD40LG
|
[NCBI]
|
0.000374612
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive
|
[NCBI]
|
0.00036978
|
|
|
IKBKG
|
[NCBI]
|
0.000362842
|
|
|
intestinal atresia, multiple
|
[NCBI]
|
0.000359365
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.000359365
|
|
|
ectodermal dysplasia, hypohidrotic, with immune deficiency
|
[NCBI]
|
0.000349043
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
0.000330545
|
|
|
BTK
|
[NCBI]
|
0.000323697
|
|
|
XLP1
|
[NCBI]
|
0.000316788
|
|
|
complement component 5 deficiency
|
[NCBI]
|
0.000312203
|
|
|
SLE
|
[NCBI]
|
0.00030826
|
|
|
RAB27A
|
[NCBI]
|
0.000265508
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.00026538
|
|
|
roifman syndrome
|
[NCBI]
|
0.000224263
|
|
|
complement component 2 deficiency
|
[NCBI]
|
0.000216257
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
0.000206253
|
|
|
severe combined immunodeficiency with sensitivity to ionizing radiation
|
[NCBI]
|
0.00020267
|
|
|
MBL2
|
[NCBI]
|
0.000193288
|
|
|
RFXAP
|
[NCBI]
|
0.000185097
|
|
|
achondroplasia, so-called, and severe combined immunodeficiency
|
[NCBI]
|
0.000183462
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
0.000178204
|
|
|
immunodeficiency due to defect in cd3-zeta
|
[NCBI]
|
0.000173728
|
|
|
VODI
|
[NCBI]
|
0.000173728
|
|
|
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations
|
[NCBI]
|
0.000173728
|
|
|
ataxic diplegia with defective cellular immunity
|
[NCBI]
|
0.000173728
|
|
|
t-cell immunodeficiency, congenital alopecia, and nail dystrophy
|
[NCBI]
|
0.000173728
|
|
|
immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein
|
[NCBI]
|
0.000173728
|
|
|
immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes
|
[NCBI]
|
0.000173728
|
|
|
MYO5A
|
[NCBI]
|
0.000173365
|
|
|
GS1
|
[NCBI]
|
0.000162158
|
|
|
IGKC
|
[NCBI]
|
0.000148231
|
|
|
IFNGR1
|
[NCBI]
|
0.000148231
|
|
|
SGD
|
[NCBI]
|
0.00014757
|
|
|
irak4 deficiency
|
[NCBI]
|
0.00014285
|
|
|
CIDX
|
[NCBI]
|
0.00014285
|
|
|
immunodeficiency without anhidrotic ectodermal dysplasia
|
[NCBI]
|
0.00014285
|
|
|
kaposi sarcoma
|
[NCBI]
|
0.000139887
|
|
|
CD3E
|
[NCBI]
|
0.00013878
|
|
|
AT
|
[NCBI]
|
0.000137747
|
|
|
microcephaly with chemotactic defect and transient hypogammaglobulinemia
|
[NCBI]
|
0.000128936
|
|
|
bare lymphocyte syndrome, type i
|
[NCBI]
|
0.000128936
|
|
|
lig4 syndrome
|
[NCBI]
|
0.000128936
|
|
|
FCGR3A
|
[NCBI]
|
0.000123246
|
|
|
XLRL
|
[NCBI]
|
0.000120005
|
|
|
SMARCAL1
|
[NCBI]
|
0.000120005
|
|
|
RMRP
|
[NCBI]
|
0.000119492
|
|
|
immunodeficiency with hyper-igm, type 3
|
[NCBI]
|
0.000119408
|
|
|
immunodeficiency with hyper-igm, type 2
|
[NCBI]
|
0.000119408
|
|
|
RAG1
|
[NCBI]
|
0.000108001
|
|
|
whim syndrome
|
[NCBI]
|
0.000106222
|
|
|
complement factor i deficiency
|
[NCBI]
|
0.00010126
|
|
|
FOXN1
|
[NCBI]
|
0.000101047
|
|
|
CRC
|
[NCBI]
|
9.84551e-05
|
|
|
HPS2
|
[NCBI]
|
9.69808e-05
|
|
|
hla-d histocompatibility type
|
[NCBI]
|
9.35207e-05
|
|
|
PTPN6
|
[NCBI]
|
9.24913e-05
|
|
|
complement component c1r deficiency
|
[NCBI]
|
9.24913e-05
|
|
|
complement component 7 deficiency
|
[NCBI]
|
8.98683e-05
|
|
|
gamma-a-globulin, defect in assembly of
|
[NCBI]
|
8.68449e-05
|
|
|
inosine phosphorylase deficiency, immune defect due to
|
[NCBI]
|
8.68449e-05
|
|
|
ADCP1
|
[NCBI]
|
8.68449e-05
|
|
|
immotile cilia syndrome due to excessively long cilia
|
[NCBI]
|
8.68449e-05
|
|
|
ataxia-telangiectasia with generalized skin pigmentation and early death
|
[NCBI]
|
8.68449e-05
|
|
|
interleukin 1, defective t-cell response to
|
[NCBI]
|
8.68449e-05
|
|
|
lymphokine deficiency
|
[NCBI]
|
8.68449e-05
|
|
|
immunodeficiency due to defect in mapbp-interacting protein
|
[NCBI]
|
8.68449e-05
|
|
|
neutrophil immunodeficiency syndrome
|
[NCBI]
|
8.68449e-05
|
|
|
IPD2
|
[NCBI]
|
8.68449e-05
|
|
|
fanconi-like syndrome
|
[NCBI]
|
8.68449e-05
|
|
|
secretory component deficiency
|
[NCBI]
|
8.68449e-05
|
|
|
cd8 deficiency, familial
|
[NCBI]
|
8.68449e-05
|
|
|
OLEDAID
|
[NCBI]
|
8.68449e-05
|
|
|
lymphoid system deterioration, progressive
|
[NCBI]
|
8.68449e-05
|
|
|
monocyte chemotactic disorder
|
[NCBI]
|
8.68449e-05
|
|
|
CD244
|
[NCBI]
|
8.66254e-05
|
|
|
RFXANK
|
[NCBI]
|
8.66254e-05
|
|
|
VEGF
|
[NCBI]
|
8.56797e-05
|
|
|
properdin deficiency, x-linked
|
[NCBI]
|
8.40932e-05
|
|
|
ICSBP1
|
[NCBI]
|
8.21358e-05
|
|
|
FSHMD1A
|
[NCBI]
|
7.97437e-05
|
|
|
C3
|
[NCBI]
|
7.90372e-05
|
|
|
ZAP70
|
[NCBI]
|
7.54276e-05
|
|
|
IRAK4
|
[NCBI]
|
7.54276e-05
|
|
|
NFATC1
|
[NCBI]
|
7.54276e-05
|
|
|
SH2D1A
|
[NCBI]
|
7.28367e-05
|
|
|
MHC2TA
|
[NCBI]
|
7.27805e-05
|
|
|
RAG2
|
[NCBI]
|
7.27805e-05
|
|
|
RFX5
|
[NCBI]
|
7.04516e-05
|
|
|
LIG4
|
[NCBI]
|
6.83728e-05
|
|
|
CD4
|
[NCBI]
|
6.83728e-05
|
|
|
AICDA
|
[NCBI]
|
6.47853e-05
|
|
|
IP
|
[NCBI]
|
6.47013e-05
|
|
|
combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia
|
[NCBI]
|
6.44487e-05
|
|
|
immune deficiency, familial variable
|
[NCBI]
|
6.44487e-05
|
|
|
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
|
[NCBI]
|
6.44487e-05
|
|
|
IPD1
|
[NCBI]
|
6.44487e-05
|
|
|
caspase 8 deficiency
|
[NCBI]
|
6.44487e-05
|
|
|
GS3
|
[NCBI]
|
6.44487e-05
|
|
|
protein-tyrosine kinase 2 deficiency
|
[NCBI]
|
6.44487e-05
|
|
|
microcephalic primordial dwarfism, toriello type
|
[NCBI]
|
6.44487e-05
|
|
|
metaphyseal dysplasia without hypotrichosis
|
[NCBI]
|
6.44487e-05
|
|
|
CASP8
|
[NCBI]
|
6.04117e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
6.00646e-05
|
|
|
mapbp-interacting protein
|
[NCBI]
|
5.99884e-05
|
|
|
CD7
|
[NCBI]
|
5.99884e-05
|
|
|
FCGR1A
|
[NCBI]
|
5.99884e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
5.91506e-05
|
|
|
CXCR4
|
[NCBI]
|
5.91506e-05
|
|
|
atypical mycobacteriosis, familial
|
[NCBI]
|
5.89167e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
5.89167e-05
|
|
|
C4B
|
[NCBI]
|
5.68536e-05
|
|
|
PRKDC
|
[NCBI]
|
5.68536e-05
|
|
|
interleukin 2 receptor, alpha, deficiency of
|
[NCBI]
|
5.60431e-05
|
|
|
IL2RG
|
[NCBI]
|
5.48044e-05
|
|
|
IFNG
|
[NCBI]
|
5.20949e-05
|
|
|
focal epithelial hyperplasia, oral
|
[NCBI]
|
5.06112e-05
|
|
|
immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist
|
[NCBI]
|
5.06112e-05
|
|
|
DKC
|
[NCBI]
|
4.79069e-05
|
|
|
tuftsin deficiency
|
[NCBI]
|
4.65918e-05
|
|
|
CD48
|
[NCBI]
|
4.62314e-05
|
|
|
CD247
|
[NCBI]
|
4.62314e-05
|
|
|
DPP4
|
[NCBI]
|
4.62314e-05
|
|
|
PRKCZ
|
[NCBI]
|
4.62314e-05
|
|
|
IRAK1
|
[NCBI]
|
4.62314e-05
|
|
|
TLR6
|
[NCBI]
|
4.62314e-05
|
|
|
CD36
|
[NCBI]
|
4.51516e-05
|
|
|
CHS
|
[NCBI]
|
4.44093e-05
|
|
|
hypogammaglobulinemia and isolated growth hormone deficiency, x-linked
|
[NCBI]
|
4.34042e-05
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
4.34042e-05
|
|
|
PRKCB1
|
[NCBI]
|
4.10538e-05
|
|
|
LIG1
|
[NCBI]
|
4.10538e-05
|
|
|
PSME3
|
[NCBI]
|
4.10538e-05
|
|
|
TAP2
|
[NCBI]
|
4.10538e-05
|
|
|
TNFSF7
|
[NCBI]
|
4.10538e-05
|
|
|
RAC2
|
[NCBI]
|
4.10538e-05
|
|
|
CD19
|
[NCBI]
|
4.10538e-05
|
|
|
KIR2DL1
|
[NCBI]
|
4.10538e-05
|
|
|
platelet glycoprotein iv deficiency
|
[NCBI]
|
4.07663e-05
|
|
|
adenosine deaminase, elevated, hemolytic anemia due to
|
[NCBI]
|
3.8519e-05
|
|
|
IL12RB2
|
[NCBI]
|
3.76997e-05
|
|
|
MLPH
|
[NCBI]
|
3.76997e-05
|
|
|
ITGAL
|
[NCBI]
|
3.76997e-05
|
|
|
NHEJ1
|
[NCBI]
|
3.76997e-05
|
|
|
DGCR2
|
[NCBI]
|
3.76997e-05
|
|
|
DNMT3A
|
[NCBI]
|
3.76997e-05
|
|
|
IL2
|
[NCBI]
|
3.6723e-05
|
|
|
vitiligo
|
[NCBI]
|
3.65639e-05
|
|
|
HAE
|
[NCBI]
|
3.60105e-05
|
|
|
EDARADD
|
[NCBI]
|
3.52118e-05
|
|
|
TYK2
|
[NCBI]
|
3.52118e-05
|
|
|
SP110
|
[NCBI]
|
3.52118e-05
|
|
|
NFKB2
|
[NCBI]
|
3.52118e-05
|
|
|
SCN3
|
[NCBI]
|
3.32883e-05
|
|
|
CEBPE
|
[NCBI]
|
3.3234e-05
|
|
|
NFKBIA
|
[NCBI]
|
3.3234e-05
|
|
|
TBX21
|
[NCBI]
|
3.3234e-05
|
|
|
CD3G
|
[NCBI]
|
3.3234e-05
|
|
|
EDAR
|
[NCBI]
|
3.3234e-05
|
|
|
TAP1
|
[NCBI]
|
3.3234e-05
|
|
|
MAF
|
[NCBI]
|
3.3234e-05
|
|
|
C1QB
|
[NCBI]
|
3.3234e-05
|
|
|
EV
|
[NCBI]
|
3.24731e-05
|
|
|
C1QA
|
[NCBI]
|
3.15932e-05
|
|
|
TREM2
|
[NCBI]
|
3.15932e-05
|
|
|
DCLRE1C
|
[NCBI]
|
3.15932e-05
|
|
|
PIK3R1
|
[NCBI]
|
3.01921e-05
|
|
|
IL12RB1
|
[NCBI]
|
3.01921e-05
|
|
|
HHS
|
[NCBI]
|
2.94414e-05
|
|
|
CD40
|
[NCBI]
|
2.897e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
2.8359e-05
|
|
|
C9
|
[NCBI]
|
2.7887e-05
|
|
|
CR1
|
[NCBI]
|
2.7887e-05
|
|
|
IL7R
|
[NCBI]
|
2.7887e-05
|
|
|
RELA
|
[NCBI]
|
2.7887e-05
|
|
|
TNF
|
[NCBI]
|
2.74993e-05
|
|
|
MPO
|
[NCBI]
|
2.74758e-05
|
|
|
EPO
|
[NCBI]
|
2.74561e-05
|
|
|
CDG2C
|
[NCBI]
|
2.7354e-05
|
|
|
PAX5
|
[NCBI]
|
2.60339e-05
|
|
|
TCRG
|
[NCBI]
|
2.60339e-05
|
|
|
PFC
|
[NCBI]
|
2.60339e-05
|
|
|
CD8A
|
[NCBI]
|
2.52284e-05
|
|
|
AP3B1
|
[NCBI]
|
2.52284e-05
|
|
|
complement component 6 deficiency
|
[NCBI]
|
2.52284e-05
|
|
|
STAT5B
|
[NCBI]
|
2.52284e-05
|
|
|
C5
|
[NCBI]
|
2.44867e-05
|
|
|
AMFR
|
[NCBI]
|
2.44867e-05
|
|
|
SCN1
|
[NCBI]
|
2.39375e-05
|
|
|
IPEX
|
[NCBI]
|
2.32032e-05
|
|
|
MME
|
[NCBI]
|
2.25626e-05
|
|
|
C4A
|
[NCBI]
|
2.20013e-05
|
|
|
GABEB
|
[NCBI]
|
2.18469e-05
|
|
|
APOE
|
[NCBI]
|
2.14755e-05
|
|
|
IL2RA
|
[NCBI]
|
2.14725e-05
|
|
|
APS1
|
[NCBI]
|
2.13057e-05
|
|
|
BGS
|
[NCBI]
|
2.06193e-05
|
|
|
TCRA
|
[NCBI]
|
2.04994e-05
|
|
|
IFNA1
|
[NCBI]
|
2.04544e-05
|
|
|
IGHG1
|
[NCBI]
|
1.88224e-05
|
|
|
IL12B
|
[NCBI]
|
1.88224e-05
|
|
|
IL8
|
[NCBI]
|
1.84485e-05
|
|
|
mycobacterium tuberculosis, susceptibility to
|
[NCBI]
|
1.79909e-05
|
|
|
C1NH
|
[NCBI]
|
1.77454e-05
|
|
|
NBS1
|
[NCBI]
|
1.77454e-05
|
|
|
PARP1
|
[NCBI]
|
1.74141e-05
|
|
|
COL17A1
|
[NCBI]
|
1.67875e-05
|
|
|
CD
|
[NCBI]
|
1.66383e-05
|
|
|
NFKB1
|
[NCBI]
|
1.64905e-05
|
|
|
CLL
|
[NCBI]
|
1.54486e-05
|
|
|
malaria, susceptibility to
|
[NCBI]
|
1.54486e-05
|
|
|
SLC11A1
|
[NCBI]
|
1.44311e-05
|
|
|
FMF
|
[NCBI]
|
1.43973e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
1.41415e-05
|
|
|
CML
|
[NCBI]
|
1.40239e-05
|
|
|
FOXP3
|
[NCBI]
|
1.26048e-05
|
|
|
FA
|
[NCBI]
|
1.1792e-05
|
|
|
STAT5A
|
[NCBI]
|
1.09792e-05
|
|
|
STAT1
|
[NCBI]
|
1.0417e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.04066e-05
|
|
|
RTS
|
[NCBI]
|
9.73537e-06
|
|
|
LEPR
|
[NCBI]
|
9.06726e-06
|
|
|
AIRE
|
[NCBI]
|
8.03728e-06
|
|
|
BLM
|
[NCBI]
|
6.2776e-06
|
|
|
ATM
|
[NCBI]
|
6.02906e-06
|
|
|
CGD
|
[NCBI]
|
5.37624e-06
|
|
|
TLR2
|
[NCBI]
|
4.71771e-06
|
|
|
SDS
|
[NCBI]
|
4.48851e-06
|
|
|
RP
|
[NCBI]
|
4.3453e-06
|
|
|
ALPS
|
[NCBI]
|
3.15119e-06
|
|
|
HEMB
|
[NCBI]
|
2.81192e-06
|
|
|
CD
|
[NCBI]
|
2.38596e-06
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
2.15776e-06
|
|
|
DBA
|
[NCBI]
|
2.08776e-06
|
|
|
TNFSF10
|
[NCBI]
|
1.60573e-06
|
|
|
BCR
|
[NCBI]
|
1.48422e-06
|
|
|
CHAT
|
[NCBI]
|
9.97345e-07
|
|
|
TNFRSF11B
|
[NCBI]
|
8.77827e-07
|
|
|
HPS
|
[NCBI]
|
7.49738e-07
|
|
|
HP
|
[NCBI]
|
3.66815e-07
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
1.59031e-07
|
|
|
TNFSF6
|
[NCBI]
|
7.83378e-08
|
|