TCF7L2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)5.47396218
2mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)5.45541928
3regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033395.43644766
4nephron tubule formation (GO:0072079)5.24154289
5positive regulation of cellular amine metabolic process (GO:0033240)5.18810366
6negative regulation of metanephros development (GO:0072217)5.12748057
7DNA deamination (GO:0045006)5.10786001
8pattern specification involved in kidney development (GO:0061004)5.01409214
9lymphoid progenitor cell differentiation (GO:0002320)4.87654311
10GDP-mannose metabolic process (GO:0019673)4.75357305
11antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.60365044
12viral transcription (GO:0019083)4.59338264
13response to interferon-alpha (GO:0035455)4.55653104
14regulation of apoptotic process involved in morphogenesis (GO:1902337)4.47150559
15regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)4.44770474
16platelet dense granule organization (GO:0060155)4.39936139
17translational termination (GO:0006415)4.38624011
18mannosylation (GO:0097502)4.34699125
19respiratory chain complex IV assembly (GO:0008535)4.33896284
20urogenital system development (GO:0001655)4.30324467
21SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.28284022
22mesonephros development (GO:0001823)4.23775088
23negative regulation of mesenchymal cell apoptotic process (GO:2001054)4.22900725
24cotranslational protein targeting to membrane (GO:0006613)4.19303265
25protein targeting to ER (GO:0045047)4.14200340
26telomere maintenance via semi-conservative replication (GO:0032201)4.11541525
27presynaptic membrane assembly (GO:0097105)4.05602787
28negative regulation of translation, ncRNA-mediated (GO:0040033)4.05390725
29regulation of translation, ncRNA-mediated (GO:0045974)4.05390725
30negative regulation of translation involved in gene silencing by miRNA (GO:0035278)4.05390725
31ribosomal small subunit biogenesis (GO:0042274)4.03735925
32protein localization to endoplasmic reticulum (GO:0070972)3.95176194
33establishment of protein localization to endoplasmic reticulum (GO:0072599)3.91470887
34C-terminal protein lipidation (GO:0006501)3.87828516
35response to interferon-beta (GO:0035456)3.87600399
36facial nerve structural organization (GO:0021612)3.83293582
37DNA double-strand break processing (GO:0000729)3.82772721
38chromatin remodeling at centromere (GO:0031055)3.80484086
39female gonad development (GO:0008585)3.79673443
40negative regulation of erythrocyte differentiation (GO:0045647)3.77671979
41fucose catabolic process (GO:0019317)3.76924353
42L-fucose metabolic process (GO:0042354)3.76924353
43L-fucose catabolic process (GO:0042355)3.76924353
44regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.71786246
45GPI anchor biosynthetic process (GO:0006506)3.71524451
46deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.66923197
47translational elongation (GO:0006414)3.65319407
48negative regulation of transcription by competitive promoter binding (GO:0010944)3.63158389
49positive regulation of metanephros development (GO:0072216)3.55687066
50regulation of non-canonical Wnt signaling pathway (GO:2000050)3.55452145
51metanephric nephron tubule development (GO:0072234)3.52474661
52metanephric tubule development (GO:0072170)3.52474661
53otic vesicle formation (GO:0030916)3.48590123
54negative regulation of myotube differentiation (GO:0010832)3.48246419
55lateral sprouting from an epithelium (GO:0060601)3.47898999
56CENP-A containing nucleosome assembly (GO:0034080)3.47660663
57limb bud formation (GO:0060174)3.43898015
58positive regulation of hormone metabolic process (GO:0032352)3.42712969
59negative regulation of DNA-dependent DNA replication (GO:2000104)3.42163729
60endosome to pigment granule transport (GO:0043485)3.38802235
61endosome to melanosome transport (GO:0035646)3.38802235
62telomere maintenance via recombination (GO:0000722)3.38668660
63histone exchange (GO:0043486)3.37716067
64phospholipid scrambling (GO:0017121)3.37605889
65cytochrome complex assembly (GO:0017004)3.37194559
66dolichol-linked oligosaccharide biosynthetic process (GO:0006488)3.34307426
67dorsal/ventral axis specification (GO:0009950)3.33600181
68viral life cycle (GO:0019058)3.33553532
69definitive hemopoiesis (GO:0060216)3.26474652
70mesenchymal to epithelial transition (GO:0060231)3.24901102
71regulation of mesenchymal cell apoptotic process (GO:2001053)3.23836269
72presynaptic membrane organization (GO:0097090)3.23659061
73cranial nerve morphogenesis (GO:0021602)3.21975188
74peptidyl-threonine dephosphorylation (GO:0035970)3.21884473
75positive regulation of T cell mediated cytotoxicity (GO:0001916)3.20882927
76postsynaptic membrane organization (GO:0001941)3.20235863
77kidney morphogenesis (GO:0060993)3.19039008
78maturation of SSU-rRNA (GO:0030490)3.16155326
79DNA strand elongation involved in DNA replication (GO:0006271)3.14358448
80cellular protein complex disassembly (GO:0043624)3.13349159
81thyroid gland development (GO:0030878)3.11524818
82nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.11481453
83regulation of helicase activity (GO:0051095)3.10852963
84pseudouridine synthesis (GO:0001522)3.09363055
85C-terminal protein amino acid modification (GO:0018410)3.08937187
86regulation of nuclear cell cycle DNA replication (GO:0033262)3.07094554
87anterior/posterior axis specification, embryo (GO:0008595)3.06081490
88negative regulation of keratinocyte proliferation (GO:0010839)3.06013745
89metanephric nephron epithelium development (GO:0072243)3.05280184
90defense response to protozoan (GO:0042832)3.04382965
91negative regulation of kidney development (GO:0090185)3.03571527
92cellular response to thyroid hormone stimulus (GO:0097067)3.02632608
93pre-miRNA processing (GO:0031054)3.02488529
94DNA strand elongation (GO:0022616)3.02426933
95regulation of pigment cell differentiation (GO:0050932)3.01794575
96DNA replication initiation (GO:0006270)3.01097002
97antigen processing and presentation via MHC class Ib (GO:0002475)3.00002647
98regulation of necrotic cell death (GO:0010939)2.99041496
99GPI anchor metabolic process (GO:0006505)2.98881143
100translational initiation (GO:0006413)2.98795487
101metanephric epithelium development (GO:0072207)2.98358133
102proteasome assembly (GO:0043248)2.94070496
103positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.93544216
104regulation of posttranscriptional gene silencing (GO:0060147)2.92842199
105regulation of gene silencing by miRNA (GO:0060964)2.92842199
106regulation of gene silencing by RNA (GO:0060966)2.92842199
107paraxial mesoderm development (GO:0048339)2.91775661
108mature B cell differentiation involved in immune response (GO:0002313)2.91560117
109regulation of stem cell maintenance (GO:2000036)2.90892095
110regulation of T cell mediated cytotoxicity (GO:0001914)2.88904167
111notochord development (GO:0030903)2.88779977
112specification of organ identity (GO:0010092)2.87858014
113lymph node development (GO:0048535)2.84024970
114nephron epithelium development (GO:0072009)2.83021979
115pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.82719961
116daunorubicin metabolic process (GO:0044597)2.80780092
117polyketide metabolic process (GO:0030638)2.80780092
118doxorubicin metabolic process (GO:0044598)2.80780092
119lung-associated mesenchyme development (GO:0060484)2.80210670
120heterochromatin organization (GO:0070828)2.80073382
121secretory granule organization (GO:0033363)2.79104655
122mitotic recombination (GO:0006312)2.76697217
123mast cell activation (GO:0045576)2.76581221
124DNA replication-independent nucleosome assembly (GO:0006336)2.75923803
125DNA replication-independent nucleosome organization (GO:0034724)2.75923803
126ribosomal large subunit biogenesis (GO:0042273)2.75636446
127kinetochore organization (GO:0051383)2.74501144
128protein complex disassembly (GO:0043241)2.74196308
129DNA replication checkpoint (GO:0000076)2.72897027
130nodal signaling pathway (GO:0038092)2.70805819
131regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.70796164
132response to protozoan (GO:0001562)2.70071798
133mitochondrial respiratory chain complex I assembly (GO:0032981)2.69778414
134NADH dehydrogenase complex assembly (GO:0010257)2.69778414
135mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.69778414
136regulation of mesoderm development (GO:2000380)2.69358398
137mitotic G2/M transition checkpoint (GO:0044818)2.68637206
138replication fork processing (GO:0031297)2.66362456
139establishment of integrated proviral latency (GO:0075713)2.66283626
140artery development (GO:0060840)2.63338532
141regulation of keratinocyte proliferation (GO:0010837)2.62430135
142kinetochore assembly (GO:0051382)2.61749371
143mitotic sister chromatid cohesion (GO:0007064)2.61590472
144somite development (GO:0061053)2.58089463
145outer ear morphogenesis (GO:0042473)2.57649622
146protein localization to kinetochore (GO:0034501)2.54967398
147regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.53493709
148regulation of mitotic spindle checkpoint (GO:1903504)2.53493709
149DNA strand renaturation (GO:0000733)2.51350484
150mitotic metaphase plate congression (GO:0007080)2.51126828
151regulation of cell fate specification (GO:0042659)2.51062611
152intraciliary transport (GO:0042073)2.50046935
153regulation of DNA endoreduplication (GO:0032875)2.47550609
154centriole replication (GO:0007099)2.47224068
155positive regulation of SMAD protein import into nucleus (GO:0060391)2.47060054
156single strand break repair (GO:0000012)2.45427529
157response to X-ray (GO:0010165)2.44989254
158metaphase plate congression (GO:0051310)2.44796361
159organ formation (GO:0048645)2.40327467
160water-soluble vitamin biosynthetic process (GO:0042364)2.39123865
161anterior/posterior axis specification (GO:0009948)2.38587562
162spindle checkpoint (GO:0031577)2.35424137
163regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.34612259
164protein localization to cilium (GO:0061512)2.33104983
165regulation of centriole replication (GO:0046599)2.32114134
166negative regulation of chondrocyte differentiation (GO:0032331)2.31559815
167DNA damage response, detection of DNA damage (GO:0042769)2.31397984
168prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.30673795
169atrial cardiac muscle cell action potential (GO:0086014)2.26514092
170mesenchymal cell differentiation (GO:0048762)2.25647935
171embryonic foregut morphogenesis (GO:0048617)2.25503796
172embryonic axis specification (GO:0000578)2.25257015
173regulation of gastrulation (GO:0010470)2.24931735
174lactate metabolic process (GO:0006089)2.24900985
175* pituitary gland development (GO:0021983)2.24335224
176mitotic G2 DNA damage checkpoint (GO:0007095)2.24031818
177thalamus development (GO:0021794)2.22001524
178regulation of cell fate commitment (GO:0010453)2.21475768
179DNA ligation (GO:0006266)2.19737446
180intra-S DNA damage checkpoint (GO:0031573)2.19533835
181positive regulation of protein autophosphorylation (GO:0031954)2.19528719
182embryonic pattern specification (GO:0009880)2.19252515
183retinal ganglion cell axon guidance (GO:0031290)2.18732115
184mitotic spindle checkpoint (GO:0071174)2.16548098
185cell fate commitment involved in formation of primary germ layer (GO:0060795)2.13714801
186nephron epithelium morphogenesis (GO:0072088)2.13595387
187nephron tubule morphogenesis (GO:0072078)2.13595387
188ventricular cardiac muscle cell development (GO:0055015)2.13221350
189telomere maintenance via telomerase (GO:0007004)2.12360084
190somite rostral/caudal axis specification (GO:0032525)2.11556442
191response to pheromone (GO:0019236)2.09854910
192lysine metabolic process (GO:0006553)2.07899972
193lysine catabolic process (GO:0006554)2.07899972
194negative regulation of androgen receptor signaling pathway (GO:0060766)2.07727743
195mesenchymal cell proliferation (GO:0010463)2.06737392
196negative regulation of mitotic sister chromatid segregation (GO:0033048)2.06247040

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.62669753
2SCL_19346495_ChIP-Seq_HPC-7_Human3.91750434
3SALL1_21062744_ChIP-ChIP_HESCs_Human3.77664158
4ELF1_17652178_ChIP-ChIP_JURKAT_Human3.43176339
5EZH2_22144423_ChIP-Seq_EOC_Human3.39858146
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.31373263
7RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.28064275
8IRF8_22096565_ChIP-ChIP_GC-B_Human3.25700891
9BP1_19119308_ChIP-ChIP_Hs578T_Human3.17158497
10HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.06373615
11SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse3.03530410
12E2F7_22180533_ChIP-Seq_HELA_Human2.95176114
13MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.92866549
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.92603000
15FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.87536068
16GABP_17652178_ChIP-ChIP_JURKAT_Human2.80233992
17LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.78310262
18IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.75241264
19NOTCH1_21737748_ChIP-Seq_TLL_Human2.72712069
20* CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.71912166
21MYC_18555785_ChIP-Seq_MESCs_Mouse2.70976107
22TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.70346817
23FUS_26573619_Chip-Seq_HEK293_Human2.69578679
24POU5F1_16153702_ChIP-ChIP_HESCs_Human2.56514977
25ERG_20887958_ChIP-Seq_HPC-7_Mouse2.47634535
26* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.47398948
27EST1_17652178_ChIP-ChIP_JURKAT_Human2.44657365
28JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.41037860
29KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.40750562
30SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.35952580
31EWS_26573619_Chip-Seq_HEK293_Human2.34936645
32GBX2_23144817_ChIP-Seq_PC3_Human2.31799281
33GATA1_22025678_ChIP-Seq_K562_Human2.27673101
34* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.24202258
35RBPJ_22232070_ChIP-Seq_NCS_Mouse2.24168340
36ZFP57_27257070_Chip-Seq_ESCs_Mouse2.23072256
37* P300_19829295_ChIP-Seq_ESCs_Human2.22432458
38POU3F2_20337985_ChIP-ChIP_501MEL_Human2.16893463
39* MYB_21317192_ChIP-Seq_ERMYB_Mouse2.15445629
40MYC_18358816_ChIP-ChIP_MESCs_Mouse2.14888942
41LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.13794310
42VDR_22108803_ChIP-Seq_LS180_Human2.13728681
43SPI1_23547873_ChIP-Seq_NB4_Human2.13719162
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.11116150
45E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.10979740
46HOXB4_20404135_ChIP-ChIP_EML_Mouse2.09471275
47SRF_21415370_ChIP-Seq_HL-1_Mouse2.09213767
48TAF15_26573619_Chip-Seq_HEK293_Human2.03732316
49SFPI1_20887958_ChIP-Seq_HPC-7_Mouse2.01305880
50ZNF274_21170338_ChIP-Seq_K562_Hela1.98638414
51MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.94311751
52ETS1_20019798_ChIP-Seq_JURKAT_Human1.93774887
53HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.92016660
54PIAS1_25552417_ChIP-Seq_VCAP_Human1.88543077
55VDR_23849224_ChIP-Seq_CD4+_Human1.85769653
56AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.83401439
57CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.81263849
58FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.81075051
59FOXM1_23109430_ChIP-Seq_U2OS_Human1.75743208
60STAT4_19710469_ChIP-ChIP_TH1__Mouse1.75732633
61NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.74355708
62CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.72628168
63VDR_24763502_ChIP-Seq_THP-1_Human1.72361265
64GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.71834921
65IRF8_21731497_ChIP-ChIP_J774_Mouse1.71010630
66CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.63364840
67* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.57670364
68KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.56255037
69CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.56037399
70TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55345412
71IRF1_19129219_ChIP-ChIP_H3396_Human1.55036746
72* NANOG_16153702_ChIP-ChIP_HESCs_Human1.54280125
73* SMAD3_21741376_ChIP-Seq_EPCs_Human1.53834849
74FOXP3_21729870_ChIP-Seq_TREG_Human1.52854571
75FLI1_27457419_Chip-Seq_LIVER_Mouse1.52840608
76CTBP1_25329375_ChIP-Seq_LNCAP_Human1.52184100
77GATA1_22383799_ChIP-Seq_G1ME_Mouse1.52179988
78VDR_21846776_ChIP-Seq_THP-1_Human1.52140118
79* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.51668550
80ELK1_19687146_ChIP-ChIP_HELA_Human1.51580993
81ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49028495
82E2F1_18555785_ChIP-Seq_MESCs_Mouse1.48183350
83GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.47277817
84* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.47191545
85* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.46410552
86* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.45263544
87HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.44917368
88TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44671791
89POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.44671791
90AR_21909140_ChIP-Seq_LNCAP_Human1.44355676
91* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43220665
92* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.42999745
93* IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.41981706
94THAP11_20581084_ChIP-Seq_MESCs_Mouse1.41783783
95STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.36901784
96FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.36522827
97SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.35352331
98OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35187188
99NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.33021647
100SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.32848010
101* BCAT_22108803_ChIP-Seq_LS180_Human1.32285018
102* SOX2_16153702_ChIP-ChIP_HESCs_Human1.29720653
103* TCF4_22108803_ChIP-Seq_LS180_Human1.29560845
104PCGF2_27294783_Chip-Seq_NPCs_Mouse1.29072258
105SMAD4_21799915_ChIP-Seq_A2780_Human1.28304998
106TBX3_20139965_ChIP-Seq_ESCs_Mouse1.28279062
107RUNX1_22412390_ChIP-Seq_EML_Mouse1.28169698
108TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27895766
109IRF8_27001747_Chip-Seq_BMDM_Mouse1.27615211
110TBX3_20139965_ChIP-Seq_MESCs_Mouse1.27480614
111FOXM1_26456572_ChIP-Seq_MCF-7_Human1.27123607
112* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25366090
113* CBP_20019798_ChIP-Seq_JUKART_Human1.25366090
114CBX2_27304074_Chip-Seq_ESCs_Mouse1.24993205
115AR_25329375_ChIP-Seq_VCAP_Human1.24608020
116KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.24567287
117KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.24567287
118KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.24567287
119* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.24033949
120MYB_26560356_Chip-Seq_TH2_Human1.23378848
121BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22812599
122YY1_21170310_ChIP-Seq_MESCs_Mouse1.22446795
123* ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.22389307
124RNF2_27304074_Chip-Seq_NSC_Mouse1.22311874
125MYC_19079543_ChIP-ChIP_MESCs_Mouse1.22127841
126MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.22018100
127* GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.20521469
128CIITA_25753668_ChIP-Seq_RAJI_Human1.19109638
129GATA2_22383799_ChIP-Seq_G1ME_Mouse1.18967535
130XRN2_22483619_ChIP-Seq_HELA_Human1.18515770
131KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.17812807
132EZH2_27294783_Chip-Seq_NPCs_Mouse1.17421180
133MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.17080059
134CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.16522226
135TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.15261729
136NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.14839246
137TTF2_22483619_ChIP-Seq_HELA_Human1.13094952
138TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12105607
139NANOG_18555785_Chip-Seq_ESCs_Mouse1.11378141
140IGF1R_20145208_ChIP-Seq_DFB_Human1.10533653
141TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10025592
142CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08867621
143TP63_19390658_ChIP-ChIP_HaCaT_Human1.08851995
144SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.07654232
145* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.06854711
146* RUNX2_22187159_ChIP-Seq_PCA_Human1.06361896
147* STAT3_23295773_ChIP-Seq_U87_Human1.06043623
148MYC_18940864_ChIP-ChIP_HL60_Human1.04956366
149MYB_26560356_Chip-Seq_TH1_Human1.04434386
150SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03364516
151MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.03021898
152ZNF217_24962896_ChIP-Seq_MCF-7_Human1.03009019
153RUNX_20019798_ChIP-Seq_JUKART_Human1.02245857
154SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.02001987
155RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.00851409
156PU.1_20513432_ChIP-Seq_Bcells_Mouse1.00777369
157EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.00292361
158CDX2_19796622_ChIP-Seq_MESCs_Mouse0.99641588
159EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.98450985
160NELFA_20434984_ChIP-Seq_ESCs_Mouse0.97891256
161CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.97762014
162PADI4_21655091_ChIP-ChIP_MCF-7_Human0.97167310
163POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.97085807
164ISL1_27105846_Chip-Seq_CPCs_Mouse0.96465906
165* TCF4_23295773_ChIP-Seq_U87_Human0.95839970
166ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.95748642
167* NANOG_19829295_ChIP-Seq_ESCs_Human0.95741827
168GABP_19822575_ChIP-Seq_HepG2_Human0.92355963
169STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.90479943
170E2F4_17652178_ChIP-ChIP_JURKAT_Human0.90468096
171ZFX_18555785_ChIP-Seq_MESCs_Mouse0.88611734
172PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.87147663
173PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.86880028
174FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86639320
175ELK1_22589737_ChIP-Seq_MCF10A_Human0.85825757
176CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.85605585
177MAF_26560356_Chip-Seq_TH1_Human0.85480046
178PU_27001747_Chip-Seq_BMDM_Mouse0.85294478
179FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.85075758
180* GATA1_19941827_ChIP-Seq_MEL_Mouse0.84994374
181PCGF2_27294783_Chip-Seq_ESCs_Mouse0.83949589
182TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.83900272
183GATA3_21867929_ChIP-Seq_CD8_Mouse0.82363181
184* DCP1A_22483619_ChIP-Seq_HELA_Human0.81653829
185LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.80560435
186CREB1_15753290_ChIP-ChIP_HEK293T_Human0.80118731
187NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.80106913

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.78574989
2MP0005174_abnormal_tail_pigmentation4.24270783
3MP0002396_abnormal_hematopoietic_system3.49900017
4MP0005409_darkened_coat_color3.48708992
5MP0001188_hyperpigmentation3.39681067
6MP0006292_abnormal_olfactory_placode3.27924787
7MP0010030_abnormal_orbit_morphology2.92904822
8MP0005075_abnormal_melanosome_morpholog2.89346133
9MP0001835_abnormal_antigen_presentation2.86578448
10MP0009785_altered_susceptibility_to2.70848363
11MP0004147_increased_porphyrin_level2.55941509
12MP0003136_yellow_coat_color2.55461856
13MP0003724_increased_susceptibility_to2.54787499
14MP0000015_abnormal_ear_pigmentation2.50284584
15MP0000490_abnormal_crypts_of2.47072091
16MP0000681_abnormal_thyroid_gland2.46969203
17MP0001293_anophthalmia2.44112887
18MP0002095_abnormal_skin_pigmentation2.40525303
19MP0005671_abnormal_response_to2.28152655
20MP0003890_abnormal_embryonic-extraembry2.26731834
21MP0002148_abnormal_hypersensitivity_rea2.25722677
22MP0003937_abnormal_limbs/digits/tail_de2.18367093
23MP0000685_abnormal_immune_system2.10029334
24MP0003122_maternal_imprinting2.02800106
25MP0003941_abnormal_skin_development2.02538005
26MP0005025_abnormal_response_to2.02439998
27MP0003119_abnormal_digestive_system2.01528096
28MP0003868_abnormal_feces_composition1.97352113
29MP0000372_irregular_coat_pigmentation1.93213513
30MP0001286_abnormal_eye_development1.83673236
31MP0000465_gastrointestinal_hemorrhage1.82467607
32MP0001986_abnormal_taste_sensitivity1.82381245
33MP0003121_genomic_imprinting1.81888589
34MP0000516_abnormal_urinary_system1.79344031
35MP0005367_renal/urinary_system_phenotyp1.79344031
36MP0005397_hematopoietic_system_phenotyp1.75953792
37MP0001545_abnormal_hematopoietic_system1.75953792
38MP0002233_abnormal_nose_morphology1.75099647
39MP0002254_reproductive_system_inflammat1.74791114
40MP0005248_abnormal_Harderian_gland1.73659301
41MP0003763_abnormal_thymus_physiology1.73443332
42MP0003646_muscle_fatigue1.71547425
43MP0003879_abnormal_hair_cell1.71454868
44MP0000566_synostosis1.70843518
45MP0003567_abnormal_fetal_cardiomyocyte1.70397338
46MP0005000_abnormal_immune_tolerance1.68648550
47MP0002419_abnormal_innate_immunity1.67796612
48MP0004133_heterotaxia1.65959812
49MP0000049_abnormal_middle_ear1.65275520
50MP0001853_heart_inflammation1.64492523
51MP0000537_abnormal_urethra_morphology1.63157552
52MP0003755_abnormal_palate_morphology1.59669629
53MP0002697_abnormal_eye_size1.58440558
54MP0008877_abnormal_DNA_methylation1.58359062
55MP0001485_abnormal_pinna_reflex1.58229269
56MP0002938_white_spotting1.57041380
57MP0002420_abnormal_adaptive_immunity1.53700825
58MP0002723_abnormal_immune_serum1.53620456
59MP0008058_abnormal_DNA_repair1.52294349
60MP0005187_abnormal_penis_morphology1.51747175
61MP0001819_abnormal_immune_cell1.51254202
62MP0010155_abnormal_intestine_physiology1.51033787
63MP0002398_abnormal_bone_marrow1.49443086
64MP0002452_abnormal_antigen_presenting1.49347542
65MP0003436_decreased_susceptibility_to1.49104782
66MP0005464_abnormal_platelet_physiology1.47350125
67MP0001800_abnormal_humoral_immune1.46990648
68MP0002282_abnormal_trachea_morphology1.44906068
69MP0008007_abnormal_cellular_replicative1.43568727
70MP0004808_abnormal_hematopoietic_stem1.42838864
71MP0003718_maternal_effect1.42661724
72MP0003195_calcinosis1.41011021
73MP0000689_abnormal_spleen_morphology1.39105736
74MP0000647_abnormal_sebaceous_gland1.37769918
75MP0003787_abnormal_imprinting1.36361850
76MP0000678_abnormal_parathyroid_gland1.34115585
77MP0002177_abnormal_outer_ear1.34040308
78MP0005377_hearing/vestibular/ear_phenot1.32856091
79MP0003878_abnormal_ear_physiology1.32856091
80MP0000716_abnormal_immune_system1.32637525
81MP0009333_abnormal_splenocyte_physiolog1.31902106
82MP0004957_abnormal_blastocyst_morpholog1.29931832
83* MP0000631_abnormal_neuroendocrine_gland1.29775876
84MP0004381_abnormal_hair_follicle1.29278549
85MP0002876_abnormal_thyroid_physiology1.29087969
86MP0009250_abnormal_appendicular_skeleto1.28174682
87MP0003283_abnormal_digestive_organ1.27688038
88MP0000428_abnormal_craniofacial_morphol1.27395060
89MP0003866_abnormal_defecation1.25706532
90MP0001873_stomach_inflammation1.24829526
91MP0008932_abnormal_embryonic_tissue1.24557025
92MP0002722_abnormal_immune_system1.23702252
93MP0010352_gastrointestinal_tract_polyps1.21955850
94MP0003938_abnormal_ear_development1.20741495
95MP0002111_abnormal_tail_morphology1.19568032
96MP0004272_abnormal_basement_membrane1.19044064
97MP0002429_abnormal_blood_cell1.17221014
98MP0000778_abnormal_nervous_system1.16205861
99MP0000383_abnormal_hair_follicle1.15577937
100MP0001790_abnormal_immune_system1.15425849
101MP0005387_immune_system_phenotype1.15425849
102MP0000432_abnormal_head_morphology1.15199918
103* MP0003935_abnormal_craniofacial_develop1.12373637
104MP0001299_abnormal_eye_distance/1.12185414
105MP0002132_abnormal_respiratory_system1.11990277
106MP0003123_paternal_imprinting1.10627403
107MP0002085_abnormal_embryonic_tissue1.10040412
108MP0002084_abnormal_developmental_patter1.09311487
109MP0002075_abnormal_coat/hair_pigmentati1.08239201
110MP0003861_abnormal_nervous_system1.06208929
111MP0010678_abnormal_skin_adnexa1.06182102
112MP0008789_abnormal_olfactory_epithelium1.03516502
113MP0002638_abnormal_pupillary_reflex1.02550599
114MP0001845_abnormal_inflammatory_respons1.00227454
115MP0001529_abnormal_vocalization0.99858893
116MP0003828_pulmonary_edema0.99813641
117MP0003385_abnormal_body_wall0.99359831
118MP0001324_abnormal_eye_pigmentation0.98859988
119MP0009703_decreased_birth_body0.98124012
120MP0005551_abnormal_eye_electrophysiolog0.97612608
121MP0002092_abnormal_eye_morphology0.97599635
122MP0002116_abnormal_craniofacial_bone0.97548220
123MP0001346_abnormal_lacrimal_gland0.96681965
124MP0008469_abnormal_protein_level0.96628902
125MP0003942_abnormal_urinary_system0.95778357
126MP0006054_spinal_hemorrhage0.95139410
127MP0000343_altered_response_to0.93046372
128MP0003880_abnormal_central_pattern0.92376690
129MP0002166_altered_tumor_susceptibility0.91800766
130MP0002234_abnormal_pharynx_morphology0.90920533
131MP0003111_abnormal_nucleus_morphology0.90777598
132MP0000762_abnormal_tongue_morphology0.89210326
133MP0010094_abnormal_chromosome_stability0.88953523
134MP0002405_respiratory_system_inflammati0.87713027
135MP0006072_abnormal_retinal_apoptosis0.87453565
136MP0000427_abnormal_hair_cycle0.86358969
137MP0002109_abnormal_limb_morphology0.86158466
138MP0003693_abnormal_embryo_hatching0.85915391
139MP0002751_abnormal_autonomic_nervous0.85901758
140MP0001697_abnormal_embryo_size0.85642691
141MP0003077_abnormal_cell_cycle0.84168704
142MP0009764_decreased_sensitivity_to0.84134848
143MP0005391_vision/eye_phenotype0.83987332
144MP0002006_tumorigenesis0.83933674
145MP0002102_abnormal_ear_morphology0.82795326
146MP0001177_atelectasis0.82791250
147MP0009780_abnormal_chondrocyte_physiolo0.82355917
148MP0001486_abnormal_startle_reflex0.81186997
149MP0002736_abnormal_nociception_after0.80023069
150MP0003186_abnormal_redox_activity0.79892863
151MP0001984_abnormal_olfaction0.79723906
152MP0009697_abnormal_copulation0.78458693
153MP0005171_absent_coat_pigmentation0.77991692
154MP0005195_abnormal_posterior_eye0.77452754
155MP0001663_abnormal_digestive_system0.76990659
156MP0003786_premature_aging0.76314469
157MP0000026_abnormal_inner_ear0.75904121
158MP0000371_diluted_coat_color0.75381121
159MP0002932_abnormal_joint_morphology0.75004706
160MP0005084_abnormal_gallbladder_morpholo0.74909785
161MP0003936_abnormal_reproductive_system0.74565890
162MP0001186_pigmentation_phenotype0.74560976
163MP0009672_abnormal_birth_weight0.74375368
164MP0000613_abnormal_salivary_gland0.74196703
165MP0005503_abnormal_tendon_morphology0.73357499
166MP0004197_abnormal_fetal_growth/weight/0.73208523
167MP0000470_abnormal_stomach_morphology0.73135916
168MP0001672_abnormal_embryogenesis/_devel0.73021510
169MP0005380_embryogenesis_phenotype0.73021510
170MP0003315_abnormal_perineum_morphology0.72911289
171MP0002933_joint_inflammation0.72181312
172MP0002249_abnormal_larynx_morphology0.67916249
173MP0002019_abnormal_tumor_incidence0.66696195
174MP0008057_abnormal_DNA_replication0.66301561
175MP0001905_abnormal_dopamine_level0.65348524
176MP0000703_abnormal_thymus_morphology0.64816579
177MP0003172_abnormal_lysosome_physiology0.64188491
178MP0001502_abnormal_circadian_rhythm0.59436389
179MP0003943_abnormal_hepatobiliary_system0.59329428
180MP0004142_abnormal_muscle_tone0.59237938
181MP0003959_abnormal_lean_body0.58958450
182MP0003656_abnormal_erythrocyte_physiolo0.58250720
183MP0005379_endocrine/exocrine_gland_phen0.57196254

Predicted human phenotypes

RankGene SetZ-score
1Reduced antithrombin III activity (HP:0001976)8.39550658
2Type I transferrin isoform profile (HP:0003642)7.58240238
3Hypothermia (HP:0002045)6.87166223
4Thyroid-stimulating hormone excess (HP:0002925)6.72889522
5Abnormal isoelectric focusing of serum transferrin (HP:0003160)5.47818602
6Abnormal protein N-linked glycosylation (HP:0012347)5.47818602
7Abnormal protein glycosylation (HP:0012346)5.47818602
8Abnormal glycosylation (HP:0012345)5.47818602
9Abnormal number of erythroid precursors (HP:0012131)4.83167538
10Abnormality of cells of the erythroid lineage (HP:0012130)4.75854612
11Septo-optic dysplasia (HP:0100842)4.36116731
12Prolonged partial thromboplastin time (HP:0003645)3.47754504
13Elevated erythrocyte sedimentation rate (HP:0003565)3.38017275
14Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.37393985
15Absent rod-and cone-mediated responses on ERG (HP:0007688)3.34732681
16Severe visual impairment (HP:0001141)3.28120900
17Reticulocytopenia (HP:0001896)3.23163199
18Abnormality of the heme biosynthetic pathway (HP:0010472)3.22484647
19Thrombocytosis (HP:0001894)3.21886322
20Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.08483794
21Abnormality of the labia minora (HP:0012880)2.98154480
22Increased hepatocellular lipid droplets (HP:0006565)2.96921450
23Ankle contracture (HP:0006466)2.96226487
24Colon cancer (HP:0003003)2.92854473
25Renal Fanconi syndrome (HP:0001994)2.88079376
26Optic nerve hypoplasia (HP:0000609)2.87273887
27Petechiae (HP:0000967)2.82553032
28Exertional dyspnea (HP:0002875)2.81097767
29Chronic otitis media (HP:0000389)2.80967126
30Aplastic anemia (HP:0001915)2.80904627
31Myositis (HP:0100614)2.77207277
32Volvulus (HP:0002580)2.76431960
33Hepatocellular necrosis (HP:0001404)2.76384966
34Flat occiput (HP:0005469)2.75205318
35Anophthalmia (HP:0000528)2.73183091
36Type 2 muscle fiber atrophy (HP:0003554)2.68375027
37Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.67823421
38IgM deficiency (HP:0002850)2.65398066
39Aqueductal stenosis (HP:0002410)2.65256622
40Absent septum pellucidum (HP:0001331)2.61882992
41Pallor (HP:0000980)2.61395685
42Lipid accumulation in hepatocytes (HP:0006561)2.61073762
43Nonprogressive disorder (HP:0003680)2.54971863
44Cortical visual impairment (HP:0100704)2.54760029
45Hyperinsulinemic hypoglycemia (HP:0000825)2.52298573
46Muscle fiber atrophy (HP:0100295)2.51826233
47Patchy hypopigmentation of hair (HP:0011365)2.50661647
48Ectopic kidney (HP:0000086)2.49198317
49Thoracic kyphosis (HP:0002942)2.45654378
50Panhypogammaglobulinemia (HP:0003139)2.41802350
51Hepatic necrosis (HP:0002605)2.39394786
52Hepatoblastoma (HP:0002884)2.38884979
53Macrocytic anemia (HP:0001972)2.36783955
54Prolonged bleeding time (HP:0003010)2.36634888
55Bifid tongue (HP:0010297)2.32936846
56Abnormality of magnesium homeostasis (HP:0004921)2.30037554
57Aplasia/Hypoplasia of the sacrum (HP:0008517)2.30020409
58White forelock (HP:0002211)2.29292737
59Abnormality of the septum pellucidum (HP:0007375)2.28478199
60Nephronophthisis (HP:0000090)2.28165217
61Recurrent abscess formation (HP:0002722)2.27842735
62Microcytic anemia (HP:0001935)2.26741876
633-Methylglutaconic aciduria (HP:0003535)2.25841377
64Abnormality of midbrain morphology (HP:0002418)2.24588864
65Molar tooth sign on MRI (HP:0002419)2.24588864
66Increased intramyocellular lipid droplets (HP:0012240)2.24283052
67True hermaphroditism (HP:0010459)2.22292840
68Abnormal lung lobation (HP:0002101)2.21707930
69Meckel diverticulum (HP:0002245)2.19661428
70Short hallux (HP:0010109)2.19352939
71Microvesicular hepatic steatosis (HP:0001414)2.19053135
72Aplasia/Hypoplasia of the tongue (HP:0010295)2.17366318
73Abnormality of chromosome stability (HP:0003220)2.15556551
74Acute lymphatic leukemia (HP:0006721)2.15447339
75Abnormality of T cell physiology (HP:0011840)2.14165238
76Abnormality of the prostate (HP:0008775)2.13439810
77Lower limb hyperreflexia (HP:0002395)2.13215132
78Abnormality of the middle phalanges of the toes (HP:0010183)2.12099001
79Embryonal renal neoplasm (HP:0011794)2.12085539
80Abnormality of the ileum (HP:0001549)2.10562964
81Oligodactyly (hands) (HP:0001180)2.10132468
82Intestinal atresia (HP:0011100)2.09195372
83Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.08929160
84Decreased activity of mitochondrial respiratory chain (HP:0008972)2.08929160
85Abnormality of the phalanges of the 2nd finger (HP:0009541)2.08767486
86Meningitis (HP:0001287)2.08481727
87Neoplasm of the adrenal cortex (HP:0100641)2.08170406
88Abnormal rod and cone electroretinograms (HP:0008323)2.06140728
89Esophageal atresia (HP:0002032)2.05899159
90Renal hypoplasia (HP:0000089)2.05044670
91Respiratory difficulties (HP:0002880)2.03941115
92Aplasia/Hypoplasia of the hallux (HP:0008362)2.03556222
93Nephroblastoma (Wilms tumor) (HP:0002667)2.02551524
94B lymphocytopenia (HP:0010976)2.02190562
95Abnormality of B cell number (HP:0010975)2.02190562
96Aplasia/Hypoplasia of the uvula (HP:0010293)2.01778932
97Hypoproteinemia (HP:0003075)2.01263892
98Preaxial foot polydactyly (HP:0001841)2.01053484
99Abnormality of secondary sexual hair (HP:0009888)1.99670477
100Abnormality of the axillary hair (HP:0100134)1.99670477
101Vaginal atresia (HP:0000148)1.98676241
102Agammaglobulinemia (HP:0004432)1.98100263
103Epistaxis (HP:0000421)1.97788791
104Genital tract atresia (HP:0001827)1.97644662
105Rhabdomyosarcoma (HP:0002859)1.96667551
106Abnormal delayed hypersensitivity skin test (HP:0002963)1.96446567
107Anencephaly (HP:0002323)1.95947382
108Stenosis of the external auditory canal (HP:0000402)1.95576104
109Maternal diabetes (HP:0009800)1.95548276
110Abnormality of the columella (HP:0009929)1.95527506
111Recurrent bacterial skin infections (HP:0005406)1.94472795
112Increased muscle lipid content (HP:0009058)1.93282190
113Hyperpituitarism (HP:0010514)1.91547471
114Median cleft lip (HP:0000161)1.91368882
115Acute myeloid leukemia (HP:0004808)1.90808783
116Abnormality of the renal medulla (HP:0100957)1.90429848
117High anterior hairline (HP:0009890)1.87885580
118Dry hair (HP:0011359)1.87626762
119Preaxial hand polydactyly (HP:0001177)1.87444636
120Pancreatic fibrosis (HP:0100732)1.86795147
121Supernumerary spleens (HP:0009799)1.86018463
122Pendular nystagmus (HP:0012043)1.85989106
123Erythema (HP:0010783)1.85968922
124Bilateral microphthalmos (HP:0007633)1.85637338
125Mitochondrial inheritance (HP:0001427)1.84067251
126Triphalangeal thumb (HP:0001199)1.82593705
127Split foot (HP:0001839)1.81786842
128Coronal craniosynostosis (HP:0004440)1.81548491
129Pancreatic islet-cell hyperplasia (HP:0004510)1.81287578
130Hyperbilirubinemia (HP:0002904)1.80263806
131Abnormality of aspartate family amino acid metabolism (HP:0010899)1.79742314
132Gastrointestinal atresia (HP:0002589)1.79224668
133Abnormal number of incisors (HP:0011064)1.79002710
134Abnormality of renal resorption (HP:0011038)1.77098279
135Myelomeningocele (HP:0002475)1.77095698
136Hypoplastic pelvis (HP:0008839)1.77039442
137Hemivertebrae (HP:0002937)1.76569631
138Bradycardia (HP:0001662)1.76105200
139Attenuation of retinal blood vessels (HP:0007843)1.75330614
140Labial hypoplasia (HP:0000066)1.73950380
141Severe Myopia (HP:0011003)1.73320550
142Abnormality of the nasal septum (HP:0000419)1.72486326
143Small hand (HP:0200055)1.72358785
144Cystic liver disease (HP:0006706)1.72242433
145Hyperglycinuria (HP:0003108)1.72131676
146Recurrent bronchitis (HP:0002837)1.72027521
147Pancytopenia (HP:0001876)1.71951855
148Hypoglycemic seizures (HP:0002173)1.71338004
149Absent eyebrow (HP:0002223)1.71266783
150Absent radius (HP:0003974)1.70923138
151Short middle phalanx of finger (HP:0005819)1.70867621
152Midline defect of the nose (HP:0004122)1.70399589
153Hypoplastic female external genitalia (HP:0012815)1.69915151
154Glioma (HP:0009733)1.69169407
155Aplasia/Hypoplasia of the sternum (HP:0006714)1.68985292
156Aplasia/Hypoplasia of the breasts (HP:0010311)1.68266800
157Chromosomal breakage induced by crosslinking agents (HP:0003221)1.67900640
158Knee flexion contracture (HP:0006380)1.67834926
159Albinism (HP:0001022)1.66911255
160Breast aplasia (HP:0100783)1.66545191
161Postaxial hand polydactyly (HP:0001162)1.66161877
162Chronic mucocutaneous candidiasis (HP:0002728)1.65885439
163Recurrent cutaneous fungal infections (HP:0011370)1.65885439
164Recurrent skin infections (HP:0001581)1.65815435
165Dandy-Walker malformation (HP:0001305)1.65647671
166Ocular albinism (HP:0001107)1.65631318
167Cutaneous finger syndactyly (HP:0010554)1.65429842
168Neutropenia (HP:0001875)1.64272859
169Gastrointestinal stroma tumor (HP:0100723)1.63688090
170Mediastinal lymphadenopathy (HP:0100721)1.63419072
171Pancreatic cysts (HP:0001737)1.62030895
172Medial flaring of the eyebrow (HP:0010747)1.61434448
173Sclerocornea (HP:0000647)1.61309509
174Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.61237782
175Increased serum lactate (HP:0002151)1.61201926
176Growth hormone deficiency (HP:0000824)1.60951053
177Aplasia involving forearm bones (HP:0009822)1.59995947
178Absent forearm bone (HP:0003953)1.59995947
179Sloping forehead (HP:0000340)1.59711633
180Chorioretinal coloboma (HP:0000567)1.59637622
181Encephalitis (HP:0002383)1.59011745
182Vacuolated lymphocytes (HP:0001922)1.58918071
183Abnormality of abdominal situs (HP:0011620)1.58255137
184Abdominal situs inversus (HP:0003363)1.58255137
185Irregular epiphyses (HP:0010582)1.58122713
186Macroglossia (HP:0000158)1.58108020
187Abnormality of the thoracic spine (HP:0100711)1.58023768
188Abnormality of the duodenum (HP:0002246)1.57397948
189Shawl scrotum (HP:0000049)1.57114438
190Neoplasm of the adrenal gland (HP:0100631)1.56551233
191Oligodactyly (HP:0012165)1.55801471
192Abnormality of the incisor (HP:0000676)1.55320804
193Neoplasm of striated muscle (HP:0009728)1.53177226
194Chromsome breakage (HP:0040012)1.53002406
195Abolished electroretinogram (ERG) (HP:0000550)1.52563930
196Abnormality of methionine metabolism (HP:0010901)1.52387278

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK34.77420361
2STK163.94229356
3KIT3.52820745
4MKNK23.02371918
5TRIM283.00311716
6MUSK2.88952993
7FES2.58468627
8TEC2.50547504
9FLT32.49972911
10WNK32.47308691
11FRK2.47166350
12PNCK2.41973271
13NME22.40346743
14MKNK12.39792986
15PIM22.26186939
16IRAK42.20010817
17NUAK12.19432671
18EIF2AK22.14342805
19PBK2.13153104
20WEE12.12676991
21* TNIK2.11786618
22PLK32.11253396
23CAMKK22.06842841
24PLK42.04563853
25FGFR22.03538625
26TTK2.03420919
27STK391.98634706
28VRK21.93356469
29TAF11.93193008
30MARK11.87889511
31CDK191.87209048
32STK38L1.85212919
33MAP2K71.75943027
34CDC71.75312221
35BTK1.74752735
36IRAK31.67001740
37VRK11.58572208
38MAPK131.54545910
39CAMK11.54056418
40CSF1R1.50117856
41EPHB21.48346769
42AKT31.47374382
43STK31.44908553
44BRSK21.44313223
45MAP3K121.43149398
46MATK1.41868231
47PLK21.39210026
48TIE11.38743548
49MAP3K61.36913606
50GRK11.34780946
51FGFR11.33676489
52YES11.31632677
53TGFBR11.27771597
54ADRBK21.27492534
55ACVR1B1.26958291
56OXSR11.26390372
57DYRK31.20219389
58TLK11.19651651
59BCR1.17859680
60IKBKB1.16825352
61MAP2K31.14285955
62SRPK11.14231889
63CLK11.14208475
64TGFBR21.11669810
65TBK11.03217054
66IKBKE1.02504554
67PLK11.01152510
68CDK80.99918905
69MAP3K140.96748610
70LYN0.96496743
71EPHA40.94542047
72WNK40.94320201
73MAP4K20.93640764
74STK240.92357913
75ZAK0.88667381
76LATS10.88589399
77MAP4K10.86235669
78MAPK40.86095459
79PRKCE0.85177515
80CSNK1G10.82916958
81INSRR0.81227357
82PAK30.79858345
83NME10.79611541
84TAOK20.79446829
85MAPKAPK50.79154690
86ZAP700.78928320
87SYK0.78025468
88RIPK40.77954084
89ERBB40.77760069
90TSSK60.77410227
91SGK20.76247510
92RPS6KB20.76110975
93BRSK10.75757888
94CDK90.75669445
95CDK70.74423846
96CAMK1G0.72498630
97IRAK20.71604760
98PRKCG0.70738549
99BMPR1B0.70078628
100TXK0.69823717
101IRAK10.69359624
102JAK30.69285802
103NEK10.68992632
104BUB10.68675027
105TYK20.67759370
106NTRK30.67488090
107PRKG20.65880520
108CASK0.65053388
109MELK0.64697840
110CHEK20.64222934
111PASK0.63963989
112KDR0.63923904
113PRPF4B0.62793811
114LCK0.62401755
115NEK20.61797860
116CDK30.60827690
117BLK0.60283512
118MAP2K60.58497037
119MYLK0.58276772
120MST1R0.57783948
121ATM0.56667981
122CSNK1A1L0.55967828
123PINK10.54760010
124SCYL20.53638679
125MET0.53301373
126EIF2AK10.52453524
127MAP3K40.52029553
128EPHA20.51064132
129BRD40.50337683
130PRKAA20.50163405
131PIM10.50076552
132DMPK0.48457133
133NTRK20.47478975
134CSNK1G20.47259828
135SGK2230.45536193
136SGK4940.45536193
137MAPK150.45133455
138LMTK20.43467681
139BCKDK0.42135555
140GRK70.41944921
141RPS6KA40.40162109
142CSNK1E0.39977415
143DDR20.39105186
144MINK10.39082485
145FER0.38943200
146PDK20.38822910
147DYRK1A0.38003589
148CSNK1G30.37965069
149AURKB0.37813382
150MAP3K110.37791940
151ERBB20.36675339
152MST40.36247077
153PIK3CA0.34842244
154DYRK20.34333356
155HIPK20.33965101
156ATR0.33443512
157CHEK10.33318181
158PAK40.33090140
159TAOK30.32733392
160PRKG10.31665119
161RAF10.31514662
162NEK60.31197637
163PRKD20.29779294
164MAPKAPK30.29141427
165CSK0.27997671
166ABL10.27056993
167ERBB30.26927734
168SIK30.26466486
169CHUK0.25902991
170* CSNK2A10.25252289
171ABL20.25021492
172* CSNK2A20.22324012

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.58343373
2DNA replication_Homo sapiens_hsa030304.34044220
3Protein export_Homo sapiens_hsa030603.13702994
4Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.72684636
5Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.69683090
6Mismatch repair_Homo sapiens_hsa034302.63677664
7* Basal cell carcinoma_Homo sapiens_hsa052172.50834672
8Homologous recombination_Homo sapiens_hsa034402.44665929
9Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.40687076
10Base excision repair_Homo sapiens_hsa034102.39941501
11Hedgehog signaling pathway_Homo sapiens_hsa043402.39328003
12N-Glycan biosynthesis_Homo sapiens_hsa005102.36735053
13Pyrimidine metabolism_Homo sapiens_hsa002402.22782454
14Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.15313454
15RNA polymerase_Homo sapiens_hsa030202.11162177
16Propanoate metabolism_Homo sapiens_hsa006401.92861178
17RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.85045842
18Nucleotide excision repair_Homo sapiens_hsa034201.82846095
19Primary immunodeficiency_Homo sapiens_hsa053401.81504340
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.79871759
21Sulfur relay system_Homo sapiens_hsa041221.78719277
22Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.77354996
23Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.75397635
24Other glycan degradation_Homo sapiens_hsa005111.74051143
25Spliceosome_Homo sapiens_hsa030401.72171557
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.64664801
27* Hippo signaling pathway_Homo sapiens_hsa043901.58407200
28Proteasome_Homo sapiens_hsa030501.55817161
29* Wnt signaling pathway_Homo sapiens_hsa043101.51882947
30Selenocompound metabolism_Homo sapiens_hsa004501.50905475
31Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.50021487
32Vitamin B6 metabolism_Homo sapiens_hsa007501.49084463
33Cysteine and methionine metabolism_Homo sapiens_hsa002701.48001995
34RNA transport_Homo sapiens_hsa030131.47307371
35Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.43079402
36Maturity onset diabetes of the young_Homo sapiens_hsa049501.42032567
37Hematopoietic cell lineage_Homo sapiens_hsa046401.36194260
38Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.36102901
39Herpes simplex infection_Homo sapiens_hsa051681.35346467
40Butanoate metabolism_Homo sapiens_hsa006501.33969454
41TGF-beta signaling pathway_Homo sapiens_hsa043501.32885875
42Tight junction_Homo sapiens_hsa045301.32697019
43Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.32640698
44Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.31703259
45Transcriptional misregulation in cancer_Homo sapiens_hsa052021.30585643
46Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.27490608
47* Adherens junction_Homo sapiens_hsa045201.27374716
48* Thyroid cancer_Homo sapiens_hsa052161.25191163
49Purine metabolism_Homo sapiens_hsa002301.24829441
50Non-homologous end-joining_Homo sapiens_hsa034501.24791477
51Measles_Homo sapiens_hsa051621.24752469
52Basal transcription factors_Homo sapiens_hsa030221.24417606
53Leishmaniasis_Homo sapiens_hsa051401.20855807
54Fanconi anemia pathway_Homo sapiens_hsa034601.20502386
55Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.20432721
56Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.19298561
57Steroid biosynthesis_Homo sapiens_hsa001001.17856098
58Phototransduction_Homo sapiens_hsa047441.17115054
59Fat digestion and absorption_Homo sapiens_hsa049751.10308180
60Retinol metabolism_Homo sapiens_hsa008301.09958968
61Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.09588842
62Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.06486267
63NF-kappa B signaling pathway_Homo sapiens_hsa040641.06044753
64Intestinal immune network for IgA production_Homo sapiens_hsa046721.04251746
65Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.00879107
66Chemical carcinogenesis_Homo sapiens_hsa052041.00752260
67Toll-like receptor signaling pathway_Homo sapiens_hsa046200.99429658
68Nitrogen metabolism_Homo sapiens_hsa009100.98796720
69Pyruvate metabolism_Homo sapiens_hsa006200.98302330
70RNA degradation_Homo sapiens_hsa030180.96539420
71Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.96162587
72Folate biosynthesis_Homo sapiens_hsa007900.95323611
73Allograft rejection_Homo sapiens_hsa053300.93373702
74Malaria_Homo sapiens_hsa051440.92948726
75Lysine degradation_Homo sapiens_hsa003100.91114772
76Fatty acid degradation_Homo sapiens_hsa000710.90705144
77Tryptophan metabolism_Homo sapiens_hsa003800.89598464
78Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.88667394
79SNARE interactions in vesicular transport_Homo sapiens_hsa041300.88636093
80Arachidonic acid metabolism_Homo sapiens_hsa005900.88495263
81Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.88314723
82p53 signaling pathway_Homo sapiens_hsa041150.87603101
83Mineral absorption_Homo sapiens_hsa049780.87497146
84Jak-STAT signaling pathway_Homo sapiens_hsa046300.86978255
85Protein digestion and absorption_Homo sapiens_hsa049740.86007896
86Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.83964771
87beta-Alanine metabolism_Homo sapiens_hsa004100.82790095
88mRNA surveillance pathway_Homo sapiens_hsa030150.82312701
89Asthma_Homo sapiens_hsa053100.82145151
90Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.82063699
91B cell receptor signaling pathway_Homo sapiens_hsa046620.81866768
92Pentose and glucuronate interconversions_Homo sapiens_hsa000400.78900194
93NOD-like receptor signaling pathway_Homo sapiens_hsa046210.78638755
94Oocyte meiosis_Homo sapiens_hsa041140.76707790
95Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.76331343
96* Melanogenesis_Homo sapiens_hsa049160.71913019
97One carbon pool by folate_Homo sapiens_hsa006700.71227299
982-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.70485306
99Oxidative phosphorylation_Homo sapiens_hsa001900.69703324
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.69182079
101Olfactory transduction_Homo sapiens_hsa047400.66891776
102Sphingolipid metabolism_Homo sapiens_hsa006000.66576908
103Pertussis_Homo sapiens_hsa051330.65864666
104Axon guidance_Homo sapiens_hsa043600.63947631
105Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63481116
106Osteoclast differentiation_Homo sapiens_hsa043800.63463692
107Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.63161549
108Caffeine metabolism_Homo sapiens_hsa002320.63126874
109Peroxisome_Homo sapiens_hsa041460.62815224
110Steroid hormone biosynthesis_Homo sapiens_hsa001400.62797939
111Legionellosis_Homo sapiens_hsa051340.62365218
112Influenza A_Homo sapiens_hsa051640.62291079
113Antigen processing and presentation_Homo sapiens_hsa046120.62133469
114Nicotine addiction_Homo sapiens_hsa050330.60773788
115Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.59991516
116Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.59693435
117Linoleic acid metabolism_Homo sapiens_hsa005910.59473564
118Drug metabolism - other enzymes_Homo sapiens_hsa009830.58416351
119Glutathione metabolism_Homo sapiens_hsa004800.58067698
120* Acute myeloid leukemia_Homo sapiens_hsa052210.57319760
121* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.56819195
122Primary bile acid biosynthesis_Homo sapiens_hsa001200.56073990
123Histidine metabolism_Homo sapiens_hsa003400.55982968
124Shigellosis_Homo sapiens_hsa051310.55869873
125Systemic lupus erythematosus_Homo sapiens_hsa053220.55603714
126Sulfur metabolism_Homo sapiens_hsa009200.55223896
127Fatty acid metabolism_Homo sapiens_hsa012120.55179272
128Glycosaminoglycan degradation_Homo sapiens_hsa005310.54687960
129Starch and sucrose metabolism_Homo sapiens_hsa005000.54565724
130Pentose phosphate pathway_Homo sapiens_hsa000300.54306191
131Cell cycle_Homo sapiens_hsa041100.53348384
132Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.52975932
133Arginine and proline metabolism_Homo sapiens_hsa003300.51721771
134ECM-receptor interaction_Homo sapiens_hsa045120.50456069
135alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.50284974
136Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.49224719
137Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.49064970
138Parkinsons disease_Homo sapiens_hsa050120.48615571
139Circadian rhythm_Homo sapiens_hsa047100.47951506
140ABC transporters_Homo sapiens_hsa020100.47903181
141Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.47464455
142Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.47227015
143MicroRNAs in cancer_Homo sapiens_hsa052060.47165018
144Metabolic pathways_Homo sapiens_hsa011000.44736690
145Fatty acid elongation_Homo sapiens_hsa000620.43660578
146Hepatitis B_Homo sapiens_hsa051610.42993121
147Tuberculosis_Homo sapiens_hsa051520.41343386
148Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41275987
149Regulation of autophagy_Homo sapiens_hsa041400.40026202
150Ether lipid metabolism_Homo sapiens_hsa005650.39390995
151African trypanosomiasis_Homo sapiens_hsa051430.38870867
152Epstein-Barr virus infection_Homo sapiens_hsa051690.37989482
153Huntingtons disease_Homo sapiens_hsa050160.37152414
154Salmonella infection_Homo sapiens_hsa051320.35990841
155Platelet activation_Homo sapiens_hsa046110.35921182
156Vitamin digestion and absorption_Homo sapiens_hsa049770.35087223
157Rheumatoid arthritis_Homo sapiens_hsa053230.31999466
158Galactose metabolism_Homo sapiens_hsa000520.31404196
159Apoptosis_Homo sapiens_hsa042100.31195385
160Toxoplasmosis_Homo sapiens_hsa051450.28870751
161Graft-versus-host disease_Homo sapiens_hsa053320.27761011
162TNF signaling pathway_Homo sapiens_hsa046680.27314655
163Alzheimers disease_Homo sapiens_hsa050100.25663747
164Hepatitis C_Homo sapiens_hsa051600.25484501

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