HSD17B1

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 member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* androgen biosynthetic process (GO:0006702)9.03615050
2gonadal mesoderm development (GO:0007506)8.87345760
3regulation of gonadotropin secretion (GO:0032276)8.21433336
4negative regulation of macrophage differentiation (GO:0045650)6.11607493
5cellular response to follicle-stimulating hormone stimulus (GO:0071372)5.99779007
6ribosomal small subunit assembly (GO:0000028)5.82330945
7cellular response to ATP (GO:0071318)5.70357743
8base-excision repair, AP site formation (GO:0006285)5.59752265
9negative regulation of sodium ion transport (GO:0010766)5.50529846
10cellular response to cadmium ion (GO:0071276)5.40970082
11GDP-mannose metabolic process (GO:0019673)5.32652143
12positive regulation of protein kinase C signaling (GO:0090037)5.05611485
13sex determination (GO:0007530)5.01580285
14progesterone metabolic process (GO:0042448)4.91874169
15mitotic cell cycle arrest (GO:0071850)4.86140542
16DNA deamination (GO:0045006)4.75118311
17nucleobase biosynthetic process (GO:0046112)4.73610114
18* estrogen metabolic process (GO:0008210)4.72657371
19positive regulation of triglyceride biosynthetic process (GO:0010867)4.70413868
20killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.67312579
21disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.67312579
22female pregnancy (GO:0007565)4.58163099
23cellular response to gonadotropin stimulus (GO:0071371)4.51444603
24response to follicle-stimulating hormone (GO:0032354)4.48972976
25negative regulation of cell aging (GO:0090344)4.47503774
26glucocorticoid biosynthetic process (GO:0006704)4.43078899
27regulation of skeletal muscle contraction (GO:0014819)4.40652674
28* androgen metabolic process (GO:0008209)4.34333744
29purine nucleobase biosynthetic process (GO:0009113)4.22645062
30pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.22151836
31hemoglobin metabolic process (GO:0020027)4.21148814
32cellular response to antibiotic (GO:0071236)4.19584848
33DNA strand renaturation (GO:0000733)4.15372812
34modulation of growth of symbiont involved in interaction with host (GO:0044144)4.14477185
35regulation of growth of symbiont in host (GO:0044126)4.14477185
36negative regulation of growth of symbiont in host (GO:0044130)4.14477185
37negative regulation of growth of symbiont involved in interaction with host (GO:0044146)4.14477185
38ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043164.13848552
39DNA strand elongation involved in DNA replication (GO:0006271)4.10942085
40neutrophil mediated immunity (GO:0002446)4.07463251
41behavioral response to nicotine (GO:0035095)4.05633440
42phosphatidylglycerol biosynthetic process (GO:0006655)4.02466145
43maturation of SSU-rRNA (GO:0030490)3.99743956
44telomere maintenance via semi-conservative replication (GO:0032201)3.97605324
45DNA strand elongation (GO:0022616)3.92054694
46response to insecticide (GO:0017085)3.77614896
47ovarian follicle development (GO:0001541)3.75399268
48regulation of synapse structural plasticity (GO:0051823)3.73950983
49cardiolipin metabolic process (GO:0032048)3.73249152
50positive regulation of male gonad development (GO:2000020)3.72172660
51meiotic chromosome segregation (GO:0045132)3.71283806
52DNA replication initiation (GO:0006270)3.67985372
53regulation of cytokine production involved in inflammatory response (GO:1900015)3.67693436
54purinergic nucleotide receptor signaling pathway (GO:0035590)3.66704696
55axoneme assembly (GO:0035082)3.63587767
56ribosome assembly (GO:0042255)3.62440476
57pyrimidine nucleotide catabolic process (GO:0006244)3.61778234
58sphingoid metabolic process (GO:0046519)3.60981231
59regulation of chromatin binding (GO:0035561)3.59981348
60negative regulation of phagocytosis (GO:0050765)3.59938785
61C21-steroid hormone biosynthetic process (GO:0006700)3.59661361
62regulation of triglyceride biosynthetic process (GO:0010866)3.58254427
63transepithelial transport (GO:0070633)3.56787324
64drug transport (GO:0015893)3.55770892
65regulation of male gonad development (GO:2000018)3.53757302
66detection of light stimulus involved in sensory perception (GO:0050962)3.52378265
67detection of light stimulus involved in visual perception (GO:0050908)3.52378265
68GPI anchor biosynthetic process (GO:0006506)3.51849845
69Leydig cell differentiation (GO:0033327)3.51177249
70protein polyglutamylation (GO:0018095)3.49117762
71multi-multicellular organism process (GO:0044706)3.46221543
72* hormone biosynthetic process (GO:0042446)3.46106187
73positive regulation of histone deacetylation (GO:0031065)3.44065825
74telomere maintenance via recombination (GO:0000722)3.43450046
75killing of cells of other organism (GO:0031640)3.37969346
76disruption of cells of other organism (GO:0044364)3.37969346
77defense response to fungus (GO:0050832)3.34877481
78regulation of tight junction assembly (GO:2000810)3.32923277
79prostate gland growth (GO:0060736)3.32359492
80viral transcription (GO:0019083)3.29867467
81translational termination (GO:0006415)3.26407479
82phosphatidylethanolamine biosynthetic process (GO:0006646)3.25959856
83cellular anion homeostasis (GO:0030002)3.25611107
84SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.25479535
85GPI anchor metabolic process (GO:0006505)3.22448900
86regulation of B cell differentiation (GO:0045577)3.22428418
87keratinocyte development (GO:0003334)3.21768019
88deoxyribonucleotide catabolic process (GO:0009264)3.20275142
89toxin transport (GO:1901998)3.20230071
90seminiferous tubule development (GO:0072520)3.19678111
91cotranslational protein targeting to membrane (GO:0006613)3.16401275
92protein targeting to ER (GO:0045047)3.14860113
93IMP biosynthetic process (GO:0006188)3.14428010
94negative regulation of T cell differentiation in thymus (GO:0033085)3.13931232
95peptidyl-histidine modification (GO:0018202)3.13088884
96peptidyl-glutamic acid carboxylation (GO:0017187)3.11545864
97protein carboxylation (GO:0018214)3.11545864
98negative regulation of cytokine biosynthetic process (GO:0042036)3.10395397
99response to gonadotropin (GO:0034698)3.09724595
100viral mRNA export from host cell nucleus (GO:0046784)3.09704345
101negative regulation of systemic arterial blood pressure (GO:0003085)3.09330589
102misfolded or incompletely synthesized protein catabolic process (GO:0006515)3.08317374
103ribosomal small subunit biogenesis (GO:0042274)3.04890672
104mitotic recombination (GO:0006312)3.04843476
105protein localization to endoplasmic reticulum (GO:0070972)3.03538096
106myeloid leukocyte mediated immunity (GO:0002444)3.03412869
107ribosome biogenesis (GO:0042254)3.02997395
108preassembly of GPI anchor in ER membrane (GO:0016254)3.02469079
109phosphatidylethanolamine metabolic process (GO:0046337)3.02237411
110IMP metabolic process (GO:0046040)3.02225025
111protein insertion into membrane (GO:0051205)3.01498780
112formation of translation preinitiation complex (GO:0001731)3.00497870
113telomere maintenance via telomere lengthening (GO:0010833)2.99634330
114organic cation transport (GO:0015695)2.98649052
115translational elongation (GO:0006414)2.96594812
116establishment of protein localization to endoplasmic reticulum (GO:0072599)2.96079703
117diol metabolic process (GO:0034311)2.94527054
118DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.93724143
119multi-organism reproductive process (GO:0044703)2.92786317
120regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.92306329
121sphingosine metabolic process (GO:0006670)2.91640677
122negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.91200251
123response to fungus (GO:0009620)2.89639666
124mannose metabolic process (GO:0006013)2.89443500
125response to ATP (GO:0033198)2.89034508
126purine deoxyribonucleotide catabolic process (GO:0009155)2.88579872
127response to misfolded protein (GO:0051788)2.88032336
128ribonucleoprotein complex biogenesis (GO:0022613)2.87879403
129cellular response to zinc ion (GO:0071294)2.87452154
130positive regulation of heat generation (GO:0031652)2.87124418
131folic acid metabolic process (GO:0046655)2.86153346
132deoxyribose phosphate catabolic process (GO:0046386)2.85980879
133C21-steroid hormone metabolic process (GO:0008207)2.85496688
134cornea development in camera-type eye (GO:0061303)2.85038212
135G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.84434899
136translational initiation (GO:0006413)2.84335090
137nucleotide-excision repair, DNA gap filling (GO:0006297)2.83289335
138metallo-sulfur cluster assembly (GO:0031163)2.81661351
139iron-sulfur cluster assembly (GO:0016226)2.81661351
140DNA unwinding involved in DNA replication (GO:0006268)2.81134887
141protein import into peroxisome matrix (GO:0016558)2.78718314
142positive regulation of triglyceride metabolic process (GO:0090208)2.78644757
143L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.78031458
144negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)2.77659370
145peptidyl-glutamic acid modification (GO:0018200)2.77294427
146ovulation cycle process (GO:0022602)2.74006740
147positive regulation of CREB transcription factor activity (GO:0032793)2.70852918
148* ketone biosynthetic process (GO:0042181)2.69954071
149glucocorticoid metabolic process (GO:0008211)2.69311921
150regulation of female gonad development (GO:2000194)2.68796657
151protein localization to kinetochore (GO:0034501)2.68503355
152vitamin D metabolic process (GO:0042359)2.67555595
153fucose catabolic process (GO:0019317)2.66766804
154L-fucose metabolic process (GO:0042354)2.66766804
155L-fucose catabolic process (GO:0042355)2.66766804
156skeletal muscle tissue regeneration (GO:0043403)2.66013672
157DNA replication checkpoint (GO:0000076)2.65402415
158rRNA processing (GO:0006364)2.64898705
159nucleotide transmembrane transport (GO:1901679)2.64700294
160ribosomal large subunit biogenesis (GO:0042273)2.62397533
161cellular response to toxic substance (GO:0097237)2.60858635
162regulation of histone deacetylation (GO:0031063)2.60710752
163signal peptide processing (GO:0006465)2.60399352
164nucleoside transmembrane transport (GO:1901642)2.59103857
165NADPH regeneration (GO:0006740)2.58810721
166positive regulation of protein deacetylation (GO:0090312)2.58476080
167proteasome assembly (GO:0043248)2.58048642
168regulation of interferon-gamma biosynthetic process (GO:0045072)2.57725785
169DNA damage response, signal transduction resulting in transcription (GO:0042772)2.57421963
170rRNA metabolic process (GO:0016072)2.56644260
171G1/S transition of mitotic cell cycle (GO:0000082)2.56353313
172cell cycle G1/S phase transition (GO:0044843)2.56353313
173angiogenesis involved in wound healing (GO:0060055)2.55951195
174poly(A)+ mRNA export from nucleus (GO:0016973)2.54120362
175granulocyte differentiation (GO:0030851)2.54012572
176apoptotic DNA fragmentation (GO:0006309)2.53768393
177collecting duct development (GO:0072044)2.53758852
178purinergic receptor signaling pathway (GO:0035587)2.52849230
179L-methionine salvage (GO:0071267)2.49883126
180L-methionine biosynthetic process (GO:0071265)2.49883126
181amino acid salvage (GO:0043102)2.49883126
182tRNA modification (GO:0006400)2.49858954
183negative regulation of interleukin-8 production (GO:0032717)2.48860116
184protein retention in ER lumen (GO:0006621)2.48425429
185glycolipid biosynthetic process (GO:0009247)2.46747163
186* estrogen biosynthetic process (GO:0006703)11.7637011

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.68302161
2MYC_18555785_ChIP-Seq_MESCs_Mouse3.83801088
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.83031538
4MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human3.63149485
5ELF1_17652178_ChIP-ChIP_JURKAT_Human3.26029420
6CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human3.12601679
7E2F4_17652178_ChIP-ChIP_JURKAT_Human3.04104609
8EST1_17652178_ChIP-ChIP_JURKAT_Human3.03153228
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.00981203
10* LXR_22292898_ChIP-Seq_THP-1_Human2.92706302
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.83807180
12STAT6_21828071_ChIP-Seq_BEAS2B_Human2.83619103
13P68_20966046_ChIP-Seq_HELA_Human2.82123732
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.81859861
15* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.76830613
16IKZF1_21737484_ChIP-ChIP_HCT116_Human2.72929592
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.71876451
18EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.66407506
19GABP_17652178_ChIP-ChIP_JURKAT_Human2.62176072
20EGR1_19374776_ChIP-ChIP_THP-1_Human2.61040380
21MYC_19079543_ChIP-ChIP_MESCs_Mouse2.59104659
22MYC_19030024_ChIP-ChIP_MESCs_Mouse2.51447720
23CREB1_15753290_ChIP-ChIP_HEK293T_Human2.46273449
24TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.41371073
25* TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.40828226
26E2F1_20622854_ChIP-Seq_HELA_Human2.37926458
27SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.37221871
28* BCL6_27268052_Chip-Seq_Bcells_Human2.28539953
29BCOR_27268052_Chip-Seq_Bcells_Human2.24956733
30SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.21951459
31GATA1_22025678_ChIP-Seq_K562_Human2.20295818
32FOXM1_23109430_ChIP-Seq_U2OS_Human2.16840958
33HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.10277085
34ERG_21242973_ChIP-ChIP_JURKAT_Human2.09903819
35* CTCF_27219007_Chip-Seq_ERYTHROID_Human2.06542432
36MYB_21317192_ChIP-Seq_ERMYB_Mouse2.04823516
37VDR_23849224_ChIP-Seq_CD4+_Human2.00531937
38TET1_21451524_ChIP-Seq_MESCs_Mouse2.00330633
39FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.98512313
40NELFA_20434984_ChIP-Seq_ESCs_Mouse1.97969019
41CTCF_27219007_Chip-Seq_Bcells_Human1.96177017
42PHF8_20622854_ChIP-Seq_HELA_Human1.94743933
43XRN2_22483619_ChIP-Seq_HELA_Human1.91276254
44FOXP3_21729870_ChIP-Seq_TREG_Human1.90470817
45YY1_22570637_ChIP-Seq_MALME-3M_Human1.89589524
46SMC4_20622854_ChIP-Seq_HELA_Human1.89529369
47ELF1_20517297_ChIP-Seq_JURKAT_Human1.89296812
48E2F1_18555785_ChIP-Seq_MESCs_Mouse1.89270147
49MAF_26560356_Chip-Seq_TH2_Human1.88624836
50* RACK7_27058665_Chip-Seq_MCF-7_Human1.87895562
51ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.85920155
52CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.84671987
53YY1_21170310_ChIP-Seq_MESCs_Mouse1.82499930
54TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.81044059
55* SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.80935236
56* SA1_27219007_Chip-Seq_ERYTHROID_Human1.80358036
57CIITA_25753668_ChIP-Seq_RAJI_Human1.78662875
58VDR_21846776_ChIP-Seq_THP-1_Human1.77612223
59KDM2B_26808549_Chip-Seq_SUP-B15_Human1.77417746
60FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.74443670
61POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.73706825
62* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.70979281
63E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.70003136
64E2F1_21310950_ChIP-Seq_MCF-7_Human1.69736027
65HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.69282923
66RARG_19884340_ChIP-ChIP_MEFs_Mouse1.68814139
67EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.67458042
68* CTCF_20526341_ChIP-Seq_ESCs_Human1.66995125
69DNAJC2_21179169_ChIP-ChIP_NT2_Human1.66318162
70SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.65060309
71PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.64646323
72FOXP1_21924763_ChIP-Seq_HESCs_Human1.64402673
73HOXB4_20404135_ChIP-ChIP_EML_Mouse1.62441434
74* RARB_24833708_ChIP-Seq_LIVER_Mouse1.62200497
75* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.61838509
76DCP1A_22483619_ChIP-Seq_HELA_Human1.61611771
77FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.60619556
78DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.59896681
79MYCN_18555785_ChIP-Seq_MESCs_Mouse1.59761056
80AR_21909140_ChIP-Seq_LNCAP_Human1.59249302
81* KDM2B_26808549_Chip-Seq_DND41_Human1.55118156
82* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.54639058
83CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.53960548
84* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.53855409
85GABP_19822575_ChIP-Seq_HepG2_Human1.53381587
86* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.53323364
87SPI1_23547873_ChIP-Seq_NB4_Human1.52197344
88SRF_21415370_ChIP-Seq_HL-1_Mouse1.51190516
89EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.50872142
90E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.50741402
91* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.49933941
92NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.49802693
93ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.48813920
94SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.48432061
95* CREB1_26743006_Chip-Seq_LNCaP_Human1.48120490
96ERA_21632823_ChIP-Seq_H3396_Human1.47143766
97MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.45595067
98* RARA_24833708_ChIP-Seq_LIVER_Mouse1.45318991
99ERG_20887958_ChIP-Seq_HPC-7_Mouse1.44228537
100TTF2_22483619_ChIP-Seq_HELA_Human1.43915873
101* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.43157224
102* ELK3_25401928_ChIP-Seq_HUVEC_Human1.43051260
103CTCF_21964334_Chip-Seq_Bcells_Human1.40819470
104MYC_22102868_ChIP-Seq_BL_Human1.40432658
105ESR2_21235772_ChIP-Seq_MCF-7_Human1.37660660
106* RXRA_24833708_ChIP-Seq_LIVER_Mouse1.37449624
107RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.35332679
108NANOG_18555785_ChIP-Seq_MESCs_Mouse1.34352296
109* MAF_26560356_Chip-Seq_TH1_Human1.33750572
110HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.33008982
111YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.33002865
112TP53_22127205_ChIP-Seq_IMR90_Human1.32979545
113P300_27268052_Chip-Seq_Bcells_Human1.32518878
114THAP11_20581084_ChIP-Seq_MESCs_Mouse1.32454821
115ZFX_18555785_ChIP-Seq_MESCs_Mouse1.31824924
116ELK1_19687146_ChIP-ChIP_HELA_Human1.31516432
117CTCF_21964334_ChIP-Seq_BJAB-B_Human1.30749376
118SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.29824626
119SCL_19346495_ChIP-Seq_HPC-7_Human1.29804268
120* TP63_22573176_ChIP-Seq_HFKS_Human1.28804311
121CTCF_26484167_Chip-Seq_Bcells_Mouse1.28729391
122SA1_27219007_Chip-Seq_Bcells_Human1.28677996
123SRY_22984422_ChIP-ChIP_TESTIS_Rat1.27464885
124OCT4_19829295_ChIP-Seq_ESCs_Human1.25146723
125UTX_26944678_Chip-Seq_JUKART_Human1.23420468
126* SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.23148530
127GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.22748875
128* EZH2_27294783_Chip-Seq_ESCs_Mouse1.22301025
129TAF2_19829295_ChIP-Seq_ESCs_Human1.21920130
130NOTCH1_21737748_ChIP-Seq_TLL_Human1.21862335
131KDM2B_26808549_Chip-Seq_K562_Human1.21180948
132JARID2_20075857_ChIP-Seq_MESCs_Mouse1.19246893
133ESR1_15608294_ChIP-ChIP_MCF-7_Human1.18714548
134RAC3_21632823_ChIP-Seq_H3396_Human1.17474504
135TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16480614
136KDM5A_27292631_Chip-Seq_BREAST_Human1.15558027
137TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.15174601
138PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.13740949
139FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.13561717
140ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.13522822
141POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.12527417
142PKCTHETA_26484144_Chip-Seq_BREAST_Human1.09359985
143PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.09184580
144PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.09183067
145ETS1_21867929_ChIP-Seq_TH2_Mouse1.09074688
146TCF7_22412390_ChIP-Seq_EML_Mouse1.08918281
147GATA1_22383799_ChIP-Seq_G1ME_Mouse1.08587943
148GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.08510624
149NANOG_20526341_ChIP-Seq_ESCs_Human1.04758582
150UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.04634702
151KLF4_18555785_ChIP-Seq_MESCs_Mouse1.04391925
152SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.04147910
153CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.03575739
154IRF8_21731497_ChIP-ChIP_J774_Mouse1.03451296
155MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.03245527
156ZNF263_19887448_ChIP-Seq_K562_Human1.02947261
157E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.02347977
158BP1_19119308_ChIP-ChIP_Hs578T_Human1.02164083
159CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.01584713
160OCT4_20526341_ChIP-Seq_ESCs_Human1.01499846
161PPARA_22158963_ChIP-Seq_LIVER_Mouse1.01414260
162* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.01246376
163NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.01112532
164VDR_24763502_ChIP-Seq_THP-1_Human1.00902344
165* JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.00125587
166NCOR1_26117541_ChIP-Seq_K562_Human0.99638263
167BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.98983647
168KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.97188702
169TFEB_21752829_ChIP-Seq_HELA_Human0.96265127
170NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.96256519
171MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.96014776
172CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.94745437
173CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.92964729
174PADI4_21655091_ChIP-ChIP_MCF-7_Human0.90789781
175RUNX1_22412390_ChIP-Seq_EML_Mouse0.90175167
176STAT3_1855785_ChIP-Seq_MESCs_Mouse0.88353601
177IRF8_22096565_ChIP-ChIP_GC-B_Human0.87909596
178CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.87603303
179BRD4_27068464_Chip-Seq_AML-cells_Mouse0.86907879
180ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.85521548
181MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.85404311
182BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.85012481
183IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.84985417
184CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.84001429
185KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.83408481
186CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.83233527
187STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.80295925

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008875_abnormal_xenobiotic_pharmacok4.33815607
2MP0001661_extended_life_span4.11580899
3MP0003283_abnormal_digestive_organ3.89369499
4MP0005171_absent_coat_pigmentation3.86939525
5MP0002396_abnormal_hematopoietic_system3.83869897
6MP0003693_abnormal_embryo_hatching3.83001676
7MP0005423_abnormal_somatic_nervous3.57740314
8MP0008995_early_reproductive_senescence3.43201720
9MP0003136_yellow_coat_color3.17567640
10MP0001968_abnormal_touch/_nociception2.95852829
11MP0005083_abnormal_biliary_tract2.95635616
12MP0010094_abnormal_chromosome_stability2.91891804
13MP0003111_abnormal_nucleus_morphology2.89836909
14MP0003786_premature_aging2.80333409
15MP0002876_abnormal_thyroid_physiology2.76121856
16MP0004957_abnormal_blastocyst_morpholog2.63547679
17MP0008057_abnormal_DNA_replication2.62442492
18MP0001545_abnormal_hematopoietic_system2.52514643
19MP0005397_hematopoietic_system_phenotyp2.52514643
20MP0003315_abnormal_perineum_morphology2.47605900
21MP0005647_abnormal_sex_gland2.44569241
22MP0002653_abnormal_ependyma_morphology2.40713839
23MP0003195_calcinosis2.38158834
24MP0003077_abnormal_cell_cycle2.35752570
25MP0009697_abnormal_copulation2.26816563
26MP0004130_abnormal_muscle_cell2.18333421
27MP0002638_abnormal_pupillary_reflex2.14103624
28MP0002009_preneoplasia2.12960982
29MP0000490_abnormal_crypts_of2.10380914
30MP0000003_abnormal_adipose_tissue2.09494297
31MP0005389_reproductive_system_phenotype2.09228547
32MP0001919_abnormal_reproductive_system2.06186186
33MP0009278_abnormal_bone_marrow1.99772076
34MP0000013_abnormal_adipose_tissue1.93002556
35MP0004233_abnormal_muscle_weight1.88196137
36MP0008058_abnormal_DNA_repair1.88003706
37MP0005174_abnormal_tail_pigmentation1.87492236
38MP0002166_altered_tumor_susceptibility1.83354456
39MP0004147_increased_porphyrin_level1.80460350
40MP0005451_abnormal_body_composition1.79656177
41MP0008007_abnormal_cellular_replicative1.79288179
42MP0005409_darkened_coat_color1.77934254
43MP0006276_abnormal_autonomic_nervous1.74077643
44MP0004381_abnormal_hair_follicle1.66807213
45MP0003172_abnormal_lysosome_physiology1.65943654
46MP0005551_abnormal_eye_electrophysiolog1.65869815
47MP0004019_abnormal_vitamin_homeostasis1.65247555
48MP0001502_abnormal_circadian_rhythm1.61933597
49MP0002160_abnormal_reproductive_system1.61866930
50MP0001853_heart_inflammation1.60733330
51MP0002163_abnormal_gland_morphology1.58151829
52MP0002006_tumorigenesis1.56409861
53MP0010329_abnormal_lipoprotein_level1.50448346
54MP0000639_abnormal_adrenal_gland1.49809952
55MP0000465_gastrointestinal_hemorrhage1.48576145
56MP0001765_abnormal_ion_homeostasis1.48221771
57MP0000015_abnormal_ear_pigmentation1.47116020
58MP0001119_abnormal_female_reproductive1.46979504
59MP0001188_hyperpigmentation1.46603395
60MP0005464_abnormal_platelet_physiology1.46483652
61MP0001664_abnormal_digestion1.46414629
62MP0002019_abnormal_tumor_incidence1.45960755
63MP0001756_abnormal_urination1.45028306
64MP0002736_abnormal_nociception_after1.44510064
65MP0003567_abnormal_fetal_cardiomyocyte1.42367953
66MP0005075_abnormal_melanosome_morpholog1.41476694
67MP0004808_abnormal_hematopoietic_stem1.36198728
68MP0006054_spinal_hemorrhage1.34817542
69MP0001905_abnormal_dopamine_level1.34064384
70MP0002909_abnormal_adrenal_gland1.33937984
71MP0005646_abnormal_pituitary_gland1.33641172
72MP0009379_abnormal_foot_pigmentation1.33391241
73MP0002254_reproductive_system_inflammat1.32716046
74MP0003718_maternal_effect1.32208918
75MP0002210_abnormal_sex_determination1.29065737
76MP0002419_abnormal_innate_immunity1.27737571
77MP0000569_abnormal_digit_pigmentation1.25827869
78MP0010307_abnormal_tumor_latency1.23729426
79MP0001145_abnormal_male_reproductive1.23194734
80MP0005330_cardiomyopathy1.21879118
81MP0008932_abnormal_embryonic_tissue1.21789206
82MP0003303_peritoneal_inflammation1.20605985
83MP0008438_abnormal_cutaneous_collagen1.20476121
84MP0005375_adipose_tissue_phenotype1.18189006
85MP0008877_abnormal_DNA_methylation1.16843868
86MP0000313_abnormal_cell_death1.16393814
87MP0001835_abnormal_antigen_presentation1.14179661
88MP0000350_abnormal_cell_proliferation1.13090693
89MP0000653_abnormal_sex_gland1.13052768
90MP0003011_delayed_dark_adaptation1.12971186
91MP0005379_endocrine/exocrine_gland_phen1.11220914
92MP0005365_abnormal_bile_salt1.10950897
93MP0004043_abnormal_pH_regulation1.10721082
94MP0000358_abnormal_cell_content/1.10473824
95MP0001730_embryonic_growth_arrest1.09830165
96MP0009384_cardiac_valve_regurgitation1.09648195
97MP0002722_abnormal_immune_system1.09434598
98MP0003186_abnormal_redox_activity1.08261165
99MP0001873_stomach_inflammation1.07727922
100MP0004858_abnormal_nervous_system1.07461246
101MP0002095_abnormal_skin_pigmentation1.06596962
102MP0005408_hypopigmentation1.05871141
103MP0000858_altered_metastatic_potential1.04722241
104MP0000689_abnormal_spleen_morphology1.03034985
105MP0009333_abnormal_splenocyte_physiolog1.02933735
106MP0003959_abnormal_lean_body1.01740284
107MP0000538_abnormal_urinary_bladder1.00796095
108MP0003436_decreased_susceptibility_to1.00234289
109MP0004782_abnormal_surfactant_physiolog0.98690908
110MP0005058_abnormal_lysosome_morphology0.98397595
111MP0002148_abnormal_hypersensitivity_rea0.97785009
112MP0009785_altered_susceptibility_to0.96904970
113MP0002398_abnormal_bone_marrow0.96021789
114MP0006035_abnormal_mitochondrial_morpho0.95812886
115MP0005025_abnormal_response_to0.94597941
116MP0001929_abnormal_gametogenesis0.94476655
117MP0005670_abnormal_white_adipose0.94182893
118MP0000470_abnormal_stomach_morphology0.94005297
119MP0000681_abnormal_thyroid_gland0.93638434
120MP0003699_abnormal_female_reproductive0.93321327
121MP0005645_abnormal_hypothalamus_physiol0.92894509
122MP0003221_abnormal_cardiomyocyte_apopto0.92125067
123MP0008872_abnormal_physiological_respon0.91935669
124MP0010352_gastrointestinal_tract_polyps0.91893381
125MP0005334_abnormal_fat_pad0.91669888
126MP0002420_abnormal_adaptive_immunity0.91570021
127MP0001324_abnormal_eye_pigmentation0.90976470
128MP0000371_diluted_coat_color0.89771912
129MP0001819_abnormal_immune_cell0.89179388
130MP0009643_abnormal_urine_homeostasis0.88516893
131MP0004133_heterotaxia0.87716171
132MP0000751_myopathy0.87465945
133MP0003866_abnormal_defecation0.86566789
134MP0002837_dystrophic_cardiac_calcinosis0.86476384
135MP0003878_abnormal_ear_physiology0.86444066
136MP0005377_hearing/vestibular/ear_phenot0.86444066
137MP0002429_abnormal_blood_cell0.86410955
138MP0003123_paternal_imprinting0.86125523
139MP0010155_abnormal_intestine_physiology0.85793806
140MP0001958_emphysema0.85790245
141MP0001346_abnormal_lacrimal_gland0.84380168
142MP0003453_abnormal_keratinocyte_physiol0.84158098
143MP0001845_abnormal_inflammatory_respons0.83855342
144MP0001851_eye_inflammation0.81993083
145MP0004185_abnormal_adipocyte_glucose0.81720867
146MP0001986_abnormal_taste_sensitivity0.81525090
147MP0003279_aneurysm0.81078004
148MP0003763_abnormal_thymus_physiology0.79368381
149MP0005076_abnormal_cell_differentiation0.78767055
150MP0004264_abnormal_extraembryonic_tissu0.78605831
151MP0002080_prenatal_lethality0.78502168
152MP0003632_abnormal_nervous_system0.77955815
153MP0000716_abnormal_immune_system0.76793794
154MP0002075_abnormal_coat/hair_pigmentati0.76464927
155MP0000343_altered_response_to0.76146075
156MP0002822_catalepsy0.75018877
157MP0005584_abnormal_enzyme/coenzyme_acti0.74917681
158MP0002733_abnormal_thermal_nociception0.74604979
159MP0003656_abnormal_erythrocyte_physiolo0.74210229
160MP0002249_abnormal_larynx_morphology0.74053234
161MP0005332_abnormal_amino_acid0.73606893
162MP0003566_abnormal_cell_adhesion0.71602656
163MP0005395_other_phenotype0.71321052
164MP0000750_abnormal_muscle_regeneration0.70654671
165MP0001970_abnormal_pain_threshold0.70512300
166MP0003953_abnormal_hormone_level0.70458747
167MP0005380_embryogenesis_phenotype0.70061738
168MP0001672_abnormal_embryogenesis/_devel0.70061738
169MP0005384_cellular_phenotype0.69777449
170MP0005636_abnormal_mineral_homeostasis0.69117592
171MP0002557_abnormal_social/conspecific_i0.68878868
172MP0002118_abnormal_lipid_homeostasis0.68818925
173MP0000598_abnormal_liver_morphology0.68602054
174MP0005386_behavior/neurological_phenoty0.68246619
175MP0004924_abnormal_behavior0.68246619
176MP0002735_abnormal_chemical_nociception0.63822290
177MP0001348_abnormal_lacrimal_gland0.63486959
178MP0000367_abnormal_coat/_hair0.63148202
179MP0000678_abnormal_parathyroid_gland0.62668283
180MP0009115_abnormal_fat_cell0.61371991
181MP0002572_abnormal_emotion/affect_behav0.60457646
182MP0002098_abnormal_vibrissa_morphology0.58503795

Predicted human phenotypes

RankGene SetZ-score
1Sex reversal (HP:0012245)6.27271158
2Abnormal sex determination (HP:0012244)6.27271158
3Gonadal dysgenesis (HP:0000133)5.93604398
4Thrombocytosis (HP:0001894)5.65974753
5Testicular atrophy (HP:0000029)5.57165108
6Premature ovarian failure (HP:0008209)5.47282003
7Facial hemangioma (HP:0000329)5.32794612
8Dyschromatopsia (HP:0007641)4.98303236
9Capillary hemangiomas (HP:0005306)4.95510251
10Rib fusion (HP:0000902)4.81433303
11Mesangial abnormality (HP:0001966)4.75074466
12Congenital stationary night blindness (HP:0007642)4.61102847
13Hyperpituitarism (HP:0010514)4.46969402
14Menstrual irregularities (HP:0000858)4.42110990
15Attenuation of retinal blood vessels (HP:0007843)4.26903759
16Abnormal number of erythroid precursors (HP:0012131)3.96752384
17Abnormality of cells of the erythroid lineage (HP:0012130)3.85386207
18Decreased central vision (HP:0007663)3.85066582
19Nausea (HP:0002018)3.79929627
20Abnormality of the intrinsic pathway (HP:0010989)3.77685834
21Secondary amenorrhea (HP:0000869)3.75267917
22Pulmonary fibrosis (HP:0002206)3.63583023
23Reduced antithrombin III activity (HP:0001976)3.60524602
24Testicular neoplasm (HP:0010788)3.44209144
25Reticulocytopenia (HP:0001896)3.41282434
26Azoospermia (HP:0000027)3.28914858
27Multiple enchondromatosis (HP:0005701)3.27510460
28Macular degeneration (HP:0000608)3.25885007
29Renal salt wasting (HP:0000127)3.24267015
30Abnormality of male internal genitalia (HP:0000022)3.23393828
31Cheilitis (HP:0100825)3.21190844
32Type I transferrin isoform profile (HP:0003642)3.19413561
33Abnormal spermatogenesis (HP:0008669)3.17458493
34Entropion (HP:0000621)3.17307399
35Decreased electroretinogram (ERG) amplitude (HP:0000654)3.14269326
36Enlarged penis (HP:0000040)3.08153478
37Periodontitis (HP:0000704)3.00920811
38Ankle contracture (HP:0006466)2.99469352
39Aplasia of the musculature (HP:0100854)2.98705703
40Annular pancreas (HP:0001734)2.94929705
41Male infertility (HP:0003251)2.93638097
42Male pseudohermaphroditism (HP:0000037)2.92352841
43Hemorrhage of the eye (HP:0011885)2.82453967
44Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.77492110
45Protruding tongue (HP:0010808)2.76673883
46Self-mutilation (HP:0000742)2.76240672
47Neonatal respiratory distress (HP:0002643)2.71832998
48Abnormality of the prostate (HP:0008775)2.70892075
49Facial diplegia (HP:0001349)2.69136608
50Poikiloderma (HP:0001029)2.68700099
51Vaginal fistula (HP:0004320)2.68468467
52Patellar aplasia (HP:0006443)2.64605026
53Rectal fistula (HP:0100590)2.61100161
54Rectovaginal fistula (HP:0000143)2.61100161
55Petechiae (HP:0000967)2.60384769
56Akinesia (HP:0002304)2.59080179
57Aplasia/Hypoplasia of the patella (HP:0006498)2.59061372
58Short femoral neck (HP:0100864)2.58612929
59Granulocytopenia (HP:0001913)2.54298755
60Intestinal fistula (HP:0100819)2.52802023
61Abnormality of the columella (HP:0009929)2.51074053
62Ulnar bowing (HP:0003031)2.48821457
63Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.48392893
64Thin bony cortex (HP:0002753)2.42533320
65Abnormality of the 1st metacarpal (HP:0010009)2.41949097
66Bony spicule pigmentary retinopathy (HP:0007737)2.39743440
67Abnormality of the anterior horn cell (HP:0006802)2.39521346
68Degeneration of anterior horn cells (HP:0002398)2.39521346
69Abnormal protein glycosylation (HP:0012346)2.38897915
70Abnormal glycosylation (HP:0012345)2.38897915
71Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.38897915
72Abnormal protein N-linked glycosylation (HP:0012347)2.38897915
73Choroideremia (HP:0001139)2.38871008
74Aplastic anemia (HP:0001915)2.34734805
75Abnormality of DNA repair (HP:0003254)2.31896906
76Microretrognathia (HP:0000308)2.30184317
77Hypoplastic nipples (HP:0002557)2.28304542
78Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.28136457
79Renal Fanconi syndrome (HP:0001994)2.27028380
80Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.26383322
81Popliteal pterygium (HP:0009756)2.25167580
82Abnormality of the phalanges of the hallux (HP:0010057)2.23946720
83Joint hemorrhage (HP:0005261)2.22897032
84Birth length less than 3rd percentile (HP:0003561)2.22076112
85Fetal akinesia sequence (HP:0001989)2.21434893
86Eosinophilia (HP:0001880)2.20375567
87Hypoplasia of the radius (HP:0002984)2.20371300
88Chromsome breakage (HP:0040012)2.19512975
89Abnormal albumin level (HP:0012116)2.19272459
90Hypoalbuminemia (HP:0003073)2.19272459
91Thoracic kyphosis (HP:0002942)2.19069749
92Abnormality of the aortic arch (HP:0012303)2.18862096
93Pustule (HP:0200039)2.18124421
94Abnormal rod and cone electroretinograms (HP:0008323)2.16658152
95Poor head control (HP:0002421)2.15964559
96Polydipsia (HP:0001959)2.15284607
97Abnormal drinking behavior (HP:0030082)2.15284607
98Bowing of the arm (HP:0006488)2.15214073
99Bowed forearm bones (HP:0003956)2.15214073
100Myotonia (HP:0002486)2.14718861
101Nonimmune hydrops fetalis (HP:0001790)2.13744459
102Cutaneous melanoma (HP:0012056)2.13586474
103Infertility (HP:0000789)2.12245625
104Lipid accumulation in hepatocytes (HP:0006561)2.11266489
105Slender long bone (HP:0003100)2.11125606
106Chronic obstructive pulmonary disease (HP:0006510)2.09555074
107Obstructive lung disease (HP:0006536)2.09555074
108Abnormality of dental color (HP:0011073)2.08797087
109Macrocytic anemia (HP:0001972)2.07546420
110Prolonged partial thromboplastin time (HP:0003645)2.07165853
111Hyperaldosteronism (HP:0000859)2.06342368
112Lymphangioma (HP:0100764)2.06229381
113Supernumerary nipples (HP:0002558)2.05789316
114Turricephaly (HP:0000262)2.04565918
115Increased hepatocellular lipid droplets (HP:0006565)2.03179000
116Generalized aminoaciduria (HP:0002909)2.02640219
117Chest pain (HP:0100749)2.01841981
118Hypergonadotropic hypogonadism (HP:0000815)2.01616198
119Recurrent abscess formation (HP:0002722)2.00771727
120Protrusio acetabuli (HP:0003179)2.00713048
121Gonadotropin excess (HP:0000837)11.9405609
122Hyperthyroidism (HP:0000836)1.99321925
123Atrioventricular block (HP:0001678)1.99248492
124Short humerus (HP:0005792)1.98336075
125Absent thumb (HP:0009777)1.96149987
126Hypophosphatemic rickets (HP:0004912)1.95224927
127Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.95166657
128Breast hypoplasia (HP:0003187)1.94359989
129Increased neuronal autofluorescent lipopigment (HP:0002074)1.92477589
130Squamous cell carcinoma (HP:0002860)1.91952076
131Short chin (HP:0000331)1.91653975
132Ovoid vertebral bodies (HP:0003300)1.91559180
133Zonular cataract (HP:0010920)1.91048336
134Selective tooth agenesis (HP:0001592)1.90957920
135Aplasia/hypoplasia of the femur (HP:0005613)1.87663396
136Premature rupture of membranes (HP:0001788)1.87264720
137Hypoplasia of the ulna (HP:0003022)1.86538080
138Increased muscle lipid content (HP:0009058)1.86015828
139Rough bone trabeculation (HP:0100670)1.84887096
140Joint stiffness (HP:0001387)1.84670709
141Abnormality of the umbilical cord (HP:0010881)1.84113191
142Neonatal onset (HP:0003623)1.83064421
143Myelodysplasia (HP:0002863)1.81498803
144Severe visual impairment (HP:0001141)1.81232359
145Epiphyseal stippling (HP:0010655)1.80813985
146IgM deficiency (HP:0002850)1.79814762
147Large for gestational age (HP:0001520)1.79803218
148Abnormality of pyrimidine metabolism (HP:0004353)1.79739438
149Aplasia/Hypoplasia involving the pelvis (HP:0009103)1.79665516
150Chorioretinal atrophy (HP:0000533)1.79257267
151Abnormality of the proximal phalanges of the hand (HP:0009834)1.78259272
152Abnormality of macular pigmentation (HP:0008002)1.77891641
153Carpal bone hypoplasia (HP:0001498)1.77590083
154Pendular nystagmus (HP:0012043)1.76013277
155Short thumb (HP:0009778)1.75401031
156Abnormal epiphyseal ossification (HP:0010656)1.74546172
157Amaurosis fugax (HP:0100576)1.74463321
158Colon cancer (HP:0003003)1.74402121
15911 pairs of ribs (HP:0000878)1.74245714
160Delayed closure of the anterior fontanelle (HP:0001476)1.73685893
161Female pseudohermaphroditism (HP:0010458)1.71279850
162Pancytopenia (HP:0001876)1.70010198
163Bone marrow hypocellularity (HP:0005528)1.69140891
164Patent foramen ovale (HP:0001655)1.68525157
165Progressive muscle weakness (HP:0003323)1.68056452
166Megaloblastic anemia (HP:0001889)1.65803482
167Recurrent bacterial skin infections (HP:0005406)1.65381450
168Abnormal cartilage morphology (HP:0002763)1.63979833
169Breech presentation (HP:0001623)1.63292848
170Chromosomal breakage induced by crosslinking agents (HP:0003221)1.61785111
171Decreased skull ossification (HP:0004331)1.61133915
172Ureteral duplication (HP:0000073)1.60659507
173Aplasia/hypoplasia of the uterus (HP:0008684)1.59713427
174Ovarian neoplasm (HP:0100615)1.58414522
175Abnormality of B cell number (HP:0010975)1.58381964
176B lymphocytopenia (HP:0010976)1.58381964
177Hypoplasia of the uterus (HP:0000013)1.56129563
178Dicarboxylic aciduria (HP:0003215)1.56114197
179Abnormality of dicarboxylic acid metabolism (HP:0010995)1.56114197
180Abnormality of glycosphingolipid metabolism (HP:0004343)1.53839783
181Abnormality of glycolipid metabolism (HP:0010969)1.53839783
182Abnormality of liposaccharide metabolism (HP:0010968)1.53839783
183Epistaxis (HP:0000421)1.51912612
184Biconcave vertebral bodies (HP:0004586)1.49635082
185Neutropenia (HP:0001875)1.48976208
186Abnormality of skull ossification (HP:0002703)1.48964259
187Abnormality of T cell physiology (HP:0011840)1.48470719
188Neoplasm of the adrenal gland (HP:0100631)1.46875611

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WEE14.14828887
2BUB14.09877624
3WNK44.06344987
4MAPK153.94868154
5DAPK23.66285456
6STK163.15229589
7PIM22.94110037
8TSSK62.83900615
9ICK2.63021113
10ERN12.61730961
11NME22.58411920
12PRPF4B2.52889380
13EEF2K2.47670621
14EIF2AK32.41931349
15IRAK42.39573699
16BRSK22.38598157
17CDK72.37587001
18SMG12.36666242
19EIF2AK12.18468907
20TAOK21.92802846
21TLK11.86496337
22NEK21.74690835
23MUSK1.73966229
24CDC71.73517769
25PRKD31.73301897
26CDK41.68555579
27RPS6KB21.64609782
28MKNK11.63950302
29IRAK31.62477258
30GRK61.55941024
31MYLK1.55905007
32MAP2K31.53725567
33ADRBK21.52399084
34ACVR1B1.51606573
35BTK1.47674516
36SRPK11.47585104
37PIK3CG1.47310425
38TEC1.44936363
39PAK41.43162765
40MAP2K61.42039911
41PASK1.42003498
42TTK1.40686979
43VRK11.39548603
44PRKD21.38615351
45BRSK11.38595410
46STK391.35677652
47FRK1.35261883
48MAP3K111.30669399
49ATR1.26379873
50PIM11.24888539
51DAPK11.22766157
52TESK21.21757048
53PKN21.21696394
54SIK21.20257992
55ZAP701.18200470
56BCKDK1.16997306
57PLK41.16360771
58ZAK1.16059892
59MAP4K11.16047954
60VRK21.15699389
61PAK11.14282955
62NUAK11.12599635
63TAOK31.10622369
64PLK11.10572327
65MAPKAPK31.09651714
66RPS6KA61.09400071
67RPS6KC11.08497433
68RPS6KL11.08497433
69TAF11.07644112
70RPS6KA21.07347176
71DYRK31.05772498
72OXSR11.05340597
73HIPK21.02315479
74CLK10.99797549
75PLK30.99690378
76MKNK20.99022448
77AURKB0.96672918
78SIK10.96467411
79MAP3K120.94840908
80ILK0.94413935
81PDPK10.92115241
82KIT0.90779888
83MAP3K70.90086623
84MAP3K130.89411955
85BMPR1B0.88601634
86TGFBR10.88559151
87RPS6KB10.88139078
88MAP2K70.88105187
89MAP2K20.86801709
90BLK0.85821746
91TBK10.85289932
92SCYL20.85211771
93MAP3K80.85148289
94EPHA20.84245279
95ABL20.84067385
96CDK60.83753712
97NEK10.83295563
98ADRBK10.82368081
99MAP3K60.79914493
100RPS6KA50.79284203
101AKT30.79201218
102TRIB30.78784546
103TESK10.78600432
104PINK10.77184539
105DYRK1B0.76660636
106PRKAA10.74268326
107PRKG20.73985849
108LRRK20.73984952
109CAMK1D0.72513954
110RPS6KA40.72314451
111MAPK130.71487703
112CDK80.70668134
113CHEK20.69866656
114EIF2AK20.69509481
115IKBKB0.66515647
116TIE10.66507308
117PTK60.66494259
118TNK20.65813358
119GRK10.63196978
120STK380.60677344
121TXK0.60508019
122CSNK2A20.60370969
123RAF10.60298443
124FLT30.59925895
125CAMKK10.59789911
126CAMKK20.59519600
127NME10.57719452
128PRKAA20.56463943
129PKN10.55614742
130MAP2K40.54659476
131PAK20.53291187
132MAPKAPK50.53168418
133STK110.52554510
134PNCK0.52018020
135CCNB10.51666349
136INSRR0.50258004
137CSNK2A10.48736817
138ATM0.48369634
139PRKD10.48301836
140ARAF0.48205483
141PHKG10.47680798
142PHKG20.47680798
143MAPK110.46757486
144RPS6KA10.46527352
145MATK0.46490000
146KDR0.45220104
147PRKCI0.44342617
148CHEK10.43527392
149TYK20.42172176
150ITK0.41202284
151MARK20.40921663
152PRKCZ0.40888430
153STK40.40154099
154FES0.38943550
155MAPK80.38476271
156DAPK30.38026281
157MAPK30.34863230
158JAK30.32922084
159CDK20.32085370
160BRAF0.31548962
161AURKA0.29397774
162LYN0.29054866
163TRPM70.27910471

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.85471607
2Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.92479734
3Mismatch repair_Homo sapiens_hsa034303.41065594
4Ribosome_Homo sapiens_hsa030103.40407651
5* Ovarian steroidogenesis_Homo sapiens_hsa049133.08429554
6Proteasome_Homo sapiens_hsa030503.05218409
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.03721776
8RNA polymerase_Homo sapiens_hsa030202.79324199
9Homologous recombination_Homo sapiens_hsa034402.71609865
10Base excision repair_Homo sapiens_hsa034102.68458479
11* Steroid hormone biosynthesis_Homo sapiens_hsa001402.62727971
12Nucleotide excision repair_Homo sapiens_hsa034202.49990115
13Spliceosome_Homo sapiens_hsa030402.35362267
14Pyrimidine metabolism_Homo sapiens_hsa002402.17251096
15RNA transport_Homo sapiens_hsa030132.11980572
16Sphingolipid metabolism_Homo sapiens_hsa006002.11125438
17Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.10015022
18Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.09111000
19Protein export_Homo sapiens_hsa030602.03816110
20Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.96686425
21Vitamin B6 metabolism_Homo sapiens_hsa007501.90181342
22Cell cycle_Homo sapiens_hsa041101.87743842
23One carbon pool by folate_Homo sapiens_hsa006701.86833905
24Non-homologous end-joining_Homo sapiens_hsa034501.81650350
25Pentose phosphate pathway_Homo sapiens_hsa000301.80030390
26Sulfur relay system_Homo sapiens_hsa041221.68783261
27Glutathione metabolism_Homo sapiens_hsa004801.68604664
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.65977574
292-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.50823606
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.46112938
31N-Glycan biosynthesis_Homo sapiens_hsa005101.43243603
32Hedgehog signaling pathway_Homo sapiens_hsa043401.40667071
33Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.31737408
34Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.29552583
35RNA degradation_Homo sapiens_hsa030181.28957759
36p53 signaling pathway_Homo sapiens_hsa041151.27521013
37Galactose metabolism_Homo sapiens_hsa000521.25129714
38Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.23241521
39Phototransduction_Homo sapiens_hsa047441.21621312
40Purine metabolism_Homo sapiens_hsa002301.20840914
41Fanconi anemia pathway_Homo sapiens_hsa034601.20407622
42Antigen processing and presentation_Homo sapiens_hsa046121.14663877
43Glycerophospholipid metabolism_Homo sapiens_hsa005641.13449629
44Jak-STAT signaling pathway_Homo sapiens_hsa046301.13125927
45Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.12854859
46Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.11871710
47Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.10968790
48Renin-angiotensin system_Homo sapiens_hsa046141.07912854
49Folate biosynthesis_Homo sapiens_hsa007901.05650314
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.02109619
51Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.99609699
52Ether lipid metabolism_Homo sapiens_hsa005650.97643532
53Nicotine addiction_Homo sapiens_hsa050330.96367206
54ABC transporters_Homo sapiens_hsa020100.96215838
55Arachidonic acid metabolism_Homo sapiens_hsa005900.95917645
56Carbon metabolism_Homo sapiens_hsa012000.95588397
57Fructose and mannose metabolism_Homo sapiens_hsa000510.95015290
58Linoleic acid metabolism_Homo sapiens_hsa005910.90027596
59Carbohydrate digestion and absorption_Homo sapiens_hsa049730.89956172
60Cysteine and methionine metabolism_Homo sapiens_hsa002700.87421292
61Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.86233597
62Other glycan degradation_Homo sapiens_hsa005110.84381920
63Biosynthesis of amino acids_Homo sapiens_hsa012300.83088920
64Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.81666274
65Vitamin digestion and absorption_Homo sapiens_hsa049770.80980686
66Maturity onset diabetes of the young_Homo sapiens_hsa049500.80084014
67Epstein-Barr virus infection_Homo sapiens_hsa051690.78830172
68Synaptic vesicle cycle_Homo sapiens_hsa047210.76647701
69Bladder cancer_Homo sapiens_hsa052190.76396314
70mRNA surveillance pathway_Homo sapiens_hsa030150.73276169
71Inositol phosphate metabolism_Homo sapiens_hsa005620.71849481
72Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.71604160
73Basal transcription factors_Homo sapiens_hsa030220.71492675
74Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.71454095
75Lysine degradation_Homo sapiens_hsa003100.71079741
76Arginine and proline metabolism_Homo sapiens_hsa003300.69943384
77Mineral absorption_Homo sapiens_hsa049780.69894757
78Taste transduction_Homo sapiens_hsa047420.66988512
79VEGF signaling pathway_Homo sapiens_hsa043700.66881941
80Drug metabolism - other enzymes_Homo sapiens_hsa009830.65652386
81Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.60655908
82Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.59226987
83mTOR signaling pathway_Homo sapiens_hsa041500.59185252
84Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58162858
85Fatty acid degradation_Homo sapiens_hsa000710.57157528
86Salivary secretion_Homo sapiens_hsa049700.56914472
87Primary immunodeficiency_Homo sapiens_hsa053400.56828568
88Aldosterone synthesis and secretion_Homo sapiens_hsa049250.54781841
89Adipocytokine signaling pathway_Homo sapiens_hsa049200.54421746
90Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.54335505
91Glycosaminoglycan degradation_Homo sapiens_hsa005310.54033661
92Glycerolipid metabolism_Homo sapiens_hsa005610.52622353
93Acute myeloid leukemia_Homo sapiens_hsa052210.51528749
94Selenocompound metabolism_Homo sapiens_hsa004500.50422891
95Leishmaniasis_Homo sapiens_hsa051400.49560687
96* Metabolic pathways_Homo sapiens_hsa011000.49237290
97Cocaine addiction_Homo sapiens_hsa050300.47327416
98Calcium signaling pathway_Homo sapiens_hsa040200.46288093
99Fatty acid elongation_Homo sapiens_hsa000620.46279373
100Herpes simplex infection_Homo sapiens_hsa051680.45751458
101Insulin resistance_Homo sapiens_hsa049310.45365765
102Legionellosis_Homo sapiens_hsa051340.45121443
103Starch and sucrose metabolism_Homo sapiens_hsa005000.44333995
104Basal cell carcinoma_Homo sapiens_hsa052170.43998651
105Axon guidance_Homo sapiens_hsa043600.43696881
106Lysosome_Homo sapiens_hsa041420.43542114
107Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42644796
108RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.42508444
109Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.41243363
110Collecting duct acid secretion_Homo sapiens_hsa049660.41235877
111Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.41036444
112Cyanoamino acid metabolism_Homo sapiens_hsa004600.40270630
113Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.40220528
114Peroxisome_Homo sapiens_hsa041460.38402981
115Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.37810174
116Notch signaling pathway_Homo sapiens_hsa043300.36800676
117Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.36322779
118Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.34488083
119beta-Alanine metabolism_Homo sapiens_hsa004100.33940463
120Pentose and glucuronate interconversions_Homo sapiens_hsa000400.32682244
121Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.32503140
122Fatty acid metabolism_Homo sapiens_hsa012120.32105258
123Small cell lung cancer_Homo sapiens_hsa052220.31863556
124Viral carcinogenesis_Homo sapiens_hsa052030.29632867
125Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29378644
126Sphingolipid signaling pathway_Homo sapiens_hsa040710.28906487
127Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.28596444
128Tryptophan metabolism_Homo sapiens_hsa003800.27874437
129Fatty acid biosynthesis_Homo sapiens_hsa000610.27661357
130NOD-like receptor signaling pathway_Homo sapiens_hsa046210.27512731
131MAPK signaling pathway_Homo sapiens_hsa040100.26684294
132Primary bile acid biosynthesis_Homo sapiens_hsa001200.24333655
133Endocytosis_Homo sapiens_hsa041440.24111937
134Prolactin signaling pathway_Homo sapiens_hsa049170.24052394
135Sulfur metabolism_Homo sapiens_hsa009200.23968264
136Histidine metabolism_Homo sapiens_hsa003400.23942566
137Circadian rhythm_Homo sapiens_hsa047100.23870786
138Transcriptional misregulation in cancer_Homo sapiens_hsa052020.23210428
139PI3K-Akt signaling pathway_Homo sapiens_hsa041510.22914792
140HTLV-I infection_Homo sapiens_hsa051660.22835732
141Circadian entrainment_Homo sapiens_hsa047130.22019750
142Thyroid cancer_Homo sapiens_hsa052160.21831665
143Central carbon metabolism in cancer_Homo sapiens_hsa052300.21693360
144Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.21422026
145Fat digestion and absorption_Homo sapiens_hsa049750.21302080
146Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.20444056
147Bile secretion_Homo sapiens_hsa049760.20419283
148Apoptosis_Homo sapiens_hsa042100.19214652
149Morphine addiction_Homo sapiens_hsa050320.18655736
150TGF-beta signaling pathway_Homo sapiens_hsa043500.18034160
151Phagosome_Homo sapiens_hsa041450.18019696
152Oocyte meiosis_Homo sapiens_hsa041140.17637891
153Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.17479415
154Regulation of autophagy_Homo sapiens_hsa041400.16714229
155Measles_Homo sapiens_hsa051620.16243781
156Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.16231876
157Leukocyte transendothelial migration_Homo sapiens_hsa046700.16091776
158Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.15636393
159Chemical carcinogenesis_Homo sapiens_hsa052040.15128596
160Hepatitis B_Homo sapiens_hsa051610.14231675

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