EPPIN

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 an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation via MHC class Ib (GO:0002475)9.78830419
2plasma membrane fusion (GO:0045026)9.31602732
3piRNA metabolic process (GO:0034587)8.79911771
4antigen processing and presentation of endogenous antigen (GO:0019883)8.65448448
5regulation of antigen processing and presentation of peptide antigen (GO:0002583)8.59477551
6male meiosis (GO:0007140)7.03153857
7regulation of clathrin-mediated endocytosis (GO:2000369)6.83035464
8synaptonemal complex assembly (GO:0007130)6.68650552
9synaptonemal complex organization (GO:0070193)6.67419068
10regulation of meiosis I (GO:0060631)6.01350159
11macroautophagy (GO:0016236)5.72587094
12sperm capacitation (GO:0048240)5.66252441
13DNA methylation involved in gamete generation (GO:0043046)5.57966982
14sex differentiation (GO:0007548)5.52226573
15sperm motility (GO:0030317)5.43033500
16single fertilization (GO:0007338)5.25569463
17spermatid development (GO:0007286)5.11386104
18regulation of acrosome reaction (GO:0060046)5.09979540
19response to misfolded protein (GO:0051788)4.99713743
20positive regulation of male gonad development (GO:2000020)4.96606829
21binding of sperm to zona pellucida (GO:0007339)4.90852259
22tryptophan catabolic process (GO:0006569)4.87591767
23indole-containing compound catabolic process (GO:0042436)4.87591767
24indolalkylamine catabolic process (GO:0046218)4.87591767
25sperm-egg recognition (GO:0035036)4.85087626
26indolalkylamine metabolic process (GO:0006586)4.78670348
27cilium or flagellum-dependent cell motility (GO:0001539)4.76456358
28epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.73647040
29sex determination (GO:0007530)4.66295565
30male meiosis I (GO:0007141)4.63586710
31protein K11-linked deubiquitination (GO:0035871)4.56765025
32acrosome assembly (GO:0001675)4.50030520
33detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.49350355
34fertilization (GO:0009566)4.48511208
35axoneme assembly (GO:0035082)4.36799011
36cell-cell recognition (GO:0009988)4.25671757
37regulation of male gonad development (GO:2000018)4.22664784
38tryptophan metabolic process (GO:0006568)4.21754440
39gonadal mesoderm development (GO:0007506)4.19093667
40neural tube formation (GO:0001841)4.17243116
41negative regulation of receptor-mediated endocytosis (GO:0048261)4.12823230
42meiotic nuclear division (GO:0007126)3.99154361
43poly(A)+ mRNA export from nucleus (GO:0016973)3.98888823
44negative regulation of metanephros development (GO:0072217)3.95348062
45chromosome organization involved in meiosis (GO:0070192)3.95066208
46regulation of microtubule-based movement (GO:0060632)3.89946446
47regulation of T cell tolerance induction (GO:0002664)3.86771295
48glomerular basement membrane development (GO:0032836)3.86639464
49detection of light stimulus involved in visual perception (GO:0050908)3.85334160
50detection of light stimulus involved in sensory perception (GO:0050962)3.85334160
51cellular process involved in reproduction in multicellular organism (GO:0022412)3.81937021
52signal peptide processing (GO:0006465)3.77931492
53acrosome reaction (GO:0007340)3.77189097
54photoreceptor cell maintenance (GO:0045494)3.74917645
55positive regulation of antigen processing and presentation (GO:0002579)3.68416225
56negative regulation of mast cell activation (GO:0033004)3.68239576
57germ cell development (GO:0007281)3.63247740
58pyrimidine ribonucleoside catabolic process (GO:0046133)3.60213511
59indole-containing compound metabolic process (GO:0042430)3.54676348
60axonemal dynein complex assembly (GO:0070286)3.52979651
61meiosis I (GO:0007127)3.51292300
62epithelial cilium movement (GO:0003351)3.49673615
63regulation of hydrogen peroxide metabolic process (GO:0010310)3.48962140
64positive regulation of tolerance induction (GO:0002645)3.47838331
65behavioral response to nicotine (GO:0035095)3.46633489
66regulation of female gonad development (GO:2000194)3.45538715
67complement activation, alternative pathway (GO:0006957)3.45471229
68multicellular organism reproduction (GO:0032504)3.45292051
69reflex (GO:0060004)3.44954544
70spermatogenesis (GO:0007283)3.43523437
71response to nitrosative stress (GO:0051409)3.43005576
72cellular ketone body metabolic process (GO:0046950)3.42744641
73male gamete generation (GO:0048232)3.41825702
74L-fucose catabolic process (GO:0042355)3.39706943
75fucose catabolic process (GO:0019317)3.39706943
76L-fucose metabolic process (GO:0042354)3.39706943
77tachykinin receptor signaling pathway (GO:0007217)3.38750386
78cilium organization (GO:0044782)3.37342376
79negative regulation of inclusion body assembly (GO:0090084)3.36928699
80alpha-linolenic acid metabolic process (GO:0036109)3.35954759
81CDP-diacylglycerol biosynthetic process (GO:0016024)3.34067172
82oocyte development (GO:0048599)3.33045387
83regulation of inclusion body assembly (GO:0090083)3.32719993
84kynurenine metabolic process (GO:0070189)3.32536201
85L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.30150643
86regulation of establishment of cell polarity (GO:2000114)3.29785379
87cilium assembly (GO:0042384)3.29404333
88regulation of sarcomere organization (GO:0060297)3.28828536
89cilium morphogenesis (GO:0060271)3.27635582
90regulation of cilium movement (GO:0003352)3.25573596
91ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043163.23139330
92motile cilium assembly (GO:0044458)3.19436643
93* negative regulation of endopeptidase activity (GO:0010951)3.19123862
94behavioral response to ethanol (GO:0048149)3.18556273
95ketone body metabolic process (GO:1902224)3.18209560
96production of molecular mediator involved in inflammatory response (GO:0002532)3.17534945
97gene silencing by RNA (GO:0031047)3.16301060
98establishment of protein localization to Golgi (GO:0072600)3.14269101
99gamete generation (GO:0007276)3.14038654
100retinal cone cell development (GO:0046549)3.13457599
101fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.13111744
102positive regulation of response to oxidative stress (GO:1902884)3.11510883
103positive regulation of cellular response to oxidative stress (GO:1900409)3.11510883
104regulation of hippo signaling (GO:0035330)3.10382716
105negative regulation of cytosolic calcium ion concentration (GO:0051481)3.09044865
106cell wall macromolecule catabolic process (GO:0016998)3.08119644
107cell wall macromolecule metabolic process (GO:0044036)3.08119644
108regulation of gonadotropin secretion (GO:0032276)3.08070008
109thyroid hormone metabolic process (GO:0042403)3.08020742
110sulfur amino acid catabolic process (GO:0000098)3.07515441
111primary amino compound metabolic process (GO:1901160)3.06471897
112cellular biogenic amine catabolic process (GO:0042402)3.05868972
113amine catabolic process (GO:0009310)3.05868972
114* negative regulation of peptidase activity (GO:0010466)3.02707889
115monoubiquitinated protein deubiquitination (GO:0035520)3.02249460
116male sex determination (GO:0030238)3.01827199
117detection of mechanical stimulus involved in sensory perception (GO:0050974)3.00453272
118response to pheromone (GO:0019236)3.00035279
119NAD biosynthetic process (GO:0009435)2.98885810
120CDP-diacylglycerol metabolic process (GO:0046341)2.98316440
121negative regulation of calcium ion transport into cytosol (GO:0010523)2.98217314
122L-methionine biosynthetic process (GO:0071265)2.97295567
123amino acid salvage (GO:0043102)2.97295567
124L-methionine salvage (GO:0071267)2.97295567
125serotonin metabolic process (GO:0042428)2.97225527
126regulation of hydrogen peroxide-induced cell death (GO:1903205)2.96813558
127auditory receptor cell stereocilium organization (GO:0060088)2.96787191
128anatomical structure regression (GO:0060033)2.96755701
129gamma-aminobutyric acid transport (GO:0015812)2.96323521
130protein localization to cilium (GO:0061512)2.95796124
131protein K63-linked deubiquitination (GO:0070536)2.93571289
132genitalia morphogenesis (GO:0035112)2.91949643
133left/right axis specification (GO:0070986)2.91754124
134regulation of tolerance induction (GO:0002643)2.88920234
135metanephric mesenchyme development (GO:0072075)2.88730519
136regulation of memory T cell differentiation (GO:0043380)2.87803764
137carnitine transport (GO:0015879)2.87184319
138amino-acid betaine transport (GO:0015838)2.87184319
139xenobiotic catabolic process (GO:0042178)2.85925546
140regulation of action potential (GO:0098900)2.85573916
141ethanol oxidation (GO:0006069)2.84981658
142reproduction (GO:0000003)2.84902347
143Leydig cell differentiation (GO:0033327)2.84858196
144protein K48-linked deubiquitination (GO:0071108)2.84683115
145negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.84646135
146benzene-containing compound metabolic process (GO:0042537)2.83058702
147cilium movement (GO:0003341)2.80801321
148phosphatidylinositol acyl-chain remodeling (GO:0036149)2.79256988
149sulfation (GO:0051923)2.79244269
150regulation of establishment or maintenance of cell polarity (GO:0032878)2.78766418
151carnitine transmembrane transport (GO:1902603)2.76396331
152cellular component assembly involved in morphogenesis (GO:0010927)2.76201077
153regulation of collateral sprouting (GO:0048670)2.75622274
154regulation of antigen processing and presentation (GO:0002577)2.74674183
155neuronal action potential (GO:0019228)2.73823623
156aromatic amino acid family catabolic process (GO:0009074)2.71162294
157intraciliary transport (GO:0042073)2.69223605
158positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.69092674
159regulation of glucokinase activity (GO:0033131)2.68629764
160regulation of hexokinase activity (GO:1903299)2.68629764
161positive regulation of oligodendrocyte differentiation (GO:0048714)2.67979439
162positive regulation of meiosis (GO:0045836)2.67847652
163low-density lipoprotein particle clearance (GO:0034383)2.67624532
164lipid translocation (GO:0034204)2.66567026
165phospholipid translocation (GO:0045332)2.66567026
166one-carbon compound transport (GO:0019755)2.66030016
167positive regulation of receptor biosynthetic process (GO:0010870)2.65778843
168chaperone-mediated protein complex assembly (GO:0051131)2.65656963
169cellular response to sterol (GO:0036315)2.64632549
170inner ear receptor stereocilium organization (GO:0060122)2.64350756
171flavonoid metabolic process (GO:0009812)2.63839252
172righting reflex (GO:0060013)2.63466092
173positive regulation of developmental pigmentation (GO:0048087)2.61427189
174drug catabolic process (GO:0042737)2.59227298
175oxidative demethylation (GO:0070989)2.58738223
176dopamine transport (GO:0015872)2.58470122
177aromatic amino acid family metabolic process (GO:0009072)2.56517307
178centriole replication (GO:0007099)2.55209497
179methionine biosynthetic process (GO:0009086)2.54348790
180regulation of gene silencing by RNA (GO:0060966)2.52482912
181regulation of posttranscriptional gene silencing (GO:0060147)2.52482912
182regulation of gene silencing by miRNA (GO:0060964)2.52482912
183cAMP catabolic process (GO:0006198)2.51251855
184rRNA catabolic process (GO:0016075)2.51218537
185replication fork processing (GO:0031297)2.49858457
186fusion of sperm to egg plasma membrane (GO:0007342)12.3539839
187seminiferous tubule development (GO:0072520)11.0220819
188antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)10.5779715
189antigen processing and presentation of endogenous peptide antigen (GO:0002483)10.5779715

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA1_22025678_ChIP-Seq_K562_Human6.94408506
2MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse4.56603210
3ZNF263_19887448_ChIP-Seq_K562_Human4.25882159
4STAT6_21828071_ChIP-Seq_BEAS2B_Human4.06346314
5GBX2_23144817_ChIP-Seq_PC3_Human3.67901061
6VDR_22108803_ChIP-Seq_LS180_Human3.41067781
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.98618576
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.72563780
9ZFP57_27257070_Chip-Seq_ESCs_Mouse2.72267738
10MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.65701215
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.64332363
12ESR1_21235772_ChIP-Seq_MCF-7_Human2.41738417
13IKZF1_21737484_ChIP-ChIP_HCT116_Human2.37668397
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.28363990
15FLI1_27457419_Chip-Seq_LIVER_Mouse2.18146003
16CLOCK_20551151_ChIP-Seq_293T_Human2.13141504
17P300_19829295_ChIP-Seq_ESCs_Human2.12456063
18AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.07537271
19ER_23166858_ChIP-Seq_MCF-7_Human2.06085295
20ZNF274_21170338_ChIP-Seq_K562_Hela1.99925285
21SALL1_21062744_ChIP-ChIP_HESCs_Human1.99592324
22FUS_26573619_Chip-Seq_HEK293_Human1.99127644
23SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.92940945
24PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.92353806
25ELF1_20517297_ChIP-Seq_JURKAT_Human1.91712244
26PIAS1_25552417_ChIP-Seq_VCAP_Human1.91530732
27EWS_26573619_Chip-Seq_HEK293_Human1.90688394
28STAT3_23295773_ChIP-Seq_U87_Human1.89736385
29SMAD4_21799915_ChIP-Seq_A2780_Human1.84931833
30BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.84895987
31ELK4_26923725_Chip-Seq_MESODERM_Mouse1.82996323
32PCGF2_27294783_Chip-Seq_ESCs_Mouse1.80971793
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.79848015
34FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.71749808
35STAT1_17558387_ChIP-Seq_HELA_Human1.71272080
36UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.69867349
37TCF4_23295773_ChIP-Seq_U87_Human1.69763070
38EZH2_22144423_ChIP-Seq_EOC_Human1.67526221
39NR3C1_21868756_ChIP-Seq_MCF10A_Human1.66911782
40CBP_20019798_ChIP-Seq_JUKART_Human1.61342999
41IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.61342999
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.59228582
43RNF2_27304074_Chip-Seq_NSC_Mouse1.57224882
44AR_25329375_ChIP-Seq_VCAP_Human1.56537481
45CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.54344232
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.50295213
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.49698014
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.48733383
49FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.48298908
50TOP2B_26459242_ChIP-Seq_MCF-7_Human1.46849087
51EZH2_27294783_Chip-Seq_NPCs_Mouse1.46428961
52RAD21_21589869_ChIP-Seq_MESCs_Mouse1.45961937
53CDX2_19796622_ChIP-Seq_MESCs_Mouse1.45593119
54TCF4_22108803_ChIP-Seq_LS180_Human1.44660197
55SUZ12_27294783_Chip-Seq_NPCs_Mouse1.43848089
56AR_21572438_ChIP-Seq_LNCaP_Human1.41848031
57EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.41280423
58SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40892551
59HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.40272843
60SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.39528773
61TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.38055336
62RUNX2_22187159_ChIP-Seq_PCA_Human1.37498760
63CTBP1_25329375_ChIP-Seq_LNCAP_Human1.37165137
64P68_20966046_ChIP-Seq_HELA_Human1.36790215
65NFE2_27457419_Chip-Seq_LIVER_Mouse1.35407074
66GATA3_21867929_ChIP-Seq_TH1_Mouse1.35306885
67KLF5_20875108_ChIP-Seq_MESCs_Mouse1.34760263
68TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34171224
69POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.34171224
70PRDM14_20953172_ChIP-Seq_ESCs_Human1.33590835
71NANOG_18555785_Chip-Seq_ESCs_Mouse1.33098724
72CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.32509141
73OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31973267
74CDX2_22108803_ChIP-Seq_LS180_Human1.30722697
75WDR5_24793694_ChIP-Seq_LNCAP_Human1.30693838
76DROSHA_22980978_ChIP-Seq_HELA_Human1.29986208
77SOX2_22085726_ChIP-Seq_NPCs_Mouse1.28671123
78PCGF2_27294783_Chip-Seq_NPCs_Mouse1.28434906
79GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.27632418
80TP53_22573176_ChIP-Seq_HFKS_Human1.27608395
81FOXA1_21572438_ChIP-Seq_LNCaP_Human1.26861379
82P53_21459846_ChIP-Seq_SAOS-2_Human1.25682688
83BCOR_27268052_Chip-Seq_Bcells_Human1.25600884
84E2F1_20622854_ChIP-Seq_HELA_Human1.25555883
85SOX2_19829295_ChIP-Seq_ESCs_Human1.25227971
86NANOG_19829295_ChIP-Seq_ESCs_Human1.25227971
87IGF1R_20145208_ChIP-Seq_DFB_Human1.24885889
88EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.24793981
89TP53_16413492_ChIP-PET_HCT116_Human1.24522154
90MYC_27129775_Chip-Seq_CORNEA_Mouse1.24250939
91CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23967098
92FLI1_21867929_ChIP-Seq_TH2_Mouse1.23385037
93MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.23155351
94CRX_20693478_ChIP-Seq_RETINA_Mouse1.23124898
95EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.23023149
96SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.22999060
97ESR2_21235772_ChIP-Seq_MCF-7_Human1.22851890
98LXR_22292898_ChIP-Seq_THP-1_Human1.22643688
99CTBP2_25329375_ChIP-Seq_LNCAP_Human1.21922074
100NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.21535062
101MYC_19915707_ChIP-ChIP_AK7_Human1.21352939
102TAF15_26573619_Chip-Seq_HEK293_Human1.20866007
103CSB_26484114_Chip-Seq_FIBROBLAST_Human1.20823299
104FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.20574882
105LXR_22158963_ChIP-Seq_LIVER_Mouse1.20415117
106GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.19788840
107BCAT_22108803_ChIP-Seq_LS180_Human1.18800682
108P53_22387025_ChIP-Seq_ESCs_Mouse1.17519772
109FLI1_21867929_ChIP-Seq_CD8_Mouse1.17025579
110TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.16802230
111FOXH1_21741376_ChIP-Seq_ESCs_Human1.16149626
112PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15825674
113IRF1_19129219_ChIP-ChIP_H3396_Human1.15654616
114OCT4_20526341_ChIP-Seq_ESCs_Human1.15506564
115FOXM1_26456572_ChIP-Seq_MCF-7_Human1.15221230
116TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14202767
117TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.13913722
118E2F1_18555785_Chip-Seq_ESCs_Mouse1.13145336
119TET1_21451524_ChIP-Seq_MESCs_Mouse1.12743808
120RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.12363722
121STAT3_18555785_Chip-Seq_ESCs_Mouse1.10798701
122ARNT_22903824_ChIP-Seq_MCF-7_Human1.10556145
123FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10367950
124SMAD_19615063_ChIP-ChIP_OVARY_Human1.09885882
125OCT4_21477851_ChIP-Seq_ESCs_Mouse1.09826013
126SMC4_20622854_ChIP-Seq_HELA_Human1.08526280
127RUNX1_27514584_Chip-Seq_MCF-7_Human1.07719284
128RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07661804
129P300_18555785_Chip-Seq_ESCs_Mouse1.06145392
130SUZ12_18555785_Chip-Seq_ESCs_Mouse1.05870313
131SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.05404177
132SOX11_22085726_ChIP-Seq_ESNs_Mouse1.05177322
133AHR_22903824_ChIP-Seq_MCF-7_Human1.04156917
134GATA3_21867929_ChIP-Seq_CD8_Mouse1.03962002
135CMYC_18555785_Chip-Seq_ESCs_Mouse1.03407614
136EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.03233770
137REST_21632747_ChIP-Seq_MESCs_Mouse1.02845682
138TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.02541257
139SOX2_21211035_ChIP-Seq_LN229_Gbm1.02276611
140RAC3_21632823_ChIP-Seq_H3396_Human1.02085412
141GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.01940683
142NCOR_22424771_ChIP-Seq_293T_Human1.01792287
143SMAD3_21741376_ChIP-Seq_HESCs_Human1.01667426
144TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01651192
145KDM2B_26808549_Chip-Seq_REH_Human1.01319576
146PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.01123613
147TP53_18474530_ChIP-ChIP_U2OS_Human1.01075430
148SOX2_27498859_Chip-Seq_STOMACH_Mouse1.00082455
149RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.98130448
150SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.97633483
151OCT4_19829295_ChIP-Seq_ESCs_Human0.96595600
152RXRA_24833708_ChIP-Seq_LIVER_Mouse0.95634268
153NANOG_20526341_ChIP-Seq_ESCs_Human0.95161901
154HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.93982376
155KAP1_22055183_ChIP-Seq_ESCs_Mouse0.93975486
156KDM2B_26808549_Chip-Seq_K562_Human0.93792257
157SMAD3_21741376_ChIP-Seq_ESCs_Human0.93264604
158SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92485862
159BCL6_27268052_Chip-Seq_Bcells_Human0.92355942
160EP300_21415370_ChIP-Seq_HL-1_Mouse0.92188031
161PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.92149909
162FOXA1_27270436_Chip-Seq_PROSTATE_Human0.91343335
163FOXA1_25329375_ChIP-Seq_VCAP_Human0.91343335
164ERG_21242973_ChIP-ChIP_JURKAT_Human0.91268162
165CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.91016666
166SMAD4_21741376_ChIP-Seq_HESCs_Human0.90626643
167PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.90594567
168CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.90383006
169SMAD4_21741376_ChIP-Seq_EPCs_Human0.90026167
170KLF4_19829295_ChIP-Seq_ESCs_Human0.89712598
171EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.89105442
172TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.88823552
173SOX2_21211035_ChIP-Seq_LN229_Human0.87709145
174CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.87365071
175RARB_24833708_ChIP-Seq_LIVER_Mouse0.86354889
176TBX20_22080862_ChIP-Seq_HEART_Mouse0.84757231
177TBX20_22328084_ChIP-Seq_HEART_Mouse0.84757231
178CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.84517722
179PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.83151805
180CTCF_27219007_Chip-Seq_Bcells_Human0.82999180
181NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.82839528
182CTCF_26484167_Chip-Seq_Bcells_Mouse0.82184383
183VDR_24787735_ChIP-Seq_THP-1_Human0.81643992
184JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.81295183
185KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.80869324
186KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.80869324

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization7.26741676
2MP0008995_early_reproductive_senescence6.01516879
3MP0008877_abnormal_DNA_methylation5.36610045
4MP0005377_hearing/vestibular/ear_phenot4.77523564
5MP0003878_abnormal_ear_physiology4.77523564
6MP0003195_calcinosis3.76768362
7MP0003698_abnormal_male_reproductive3.54079516
8MP0005670_abnormal_white_adipose3.47554487
9MP0001929_abnormal_gametogenesis3.22431116
10MP0000569_abnormal_digit_pigmentation3.17527593
11MP0005551_abnormal_eye_electrophysiolog2.74568766
12MP0002210_abnormal_sex_determination2.67230856
13MP0002736_abnormal_nociception_after2.66641654
14MP0001968_abnormal_touch/_nociception2.62219499
15MP0003879_abnormal_hair_cell2.58017548
16MP0001145_abnormal_male_reproductive2.49608668
17MP0002139_abnormal_hepatobiliary_system2.44654495
18MP0005058_abnormal_lysosome_morphology2.44445078
19MP0002102_abnormal_ear_morphology2.37452041
20MP0000372_irregular_coat_pigmentation2.35770423
21MP0001984_abnormal_olfaction2.30335581
22MP0009046_muscle_twitch2.29999897
23MP0003786_premature_aging2.28512267
24MP0001501_abnormal_sleep_pattern2.25481834
25MP0002735_abnormal_chemical_nociception2.23770630
26MP0003136_yellow_coat_color2.23027201
27MP0003950_abnormal_plasma_membrane2.12591151
28MP0008057_abnormal_DNA_replication1.99631098
29MP0005646_abnormal_pituitary_gland1.98509589
30MP0002653_abnormal_ependyma_morphology1.96401305
31MP0000653_abnormal_sex_gland1.92277925
32MP0009745_abnormal_behavioral_response1.89296608
33MP0001727_abnormal_embryo_implantation1.87488665
34MP0003045_fibrosis1.83674010
35MP0005253_abnormal_eye_physiology1.83460534
36MP0003646_muscle_fatigue1.82527824
37MP0002161_abnormal_fertility/fecundity1.82037072
38MP0008872_abnormal_physiological_respon1.81412254
39MP0008875_abnormal_xenobiotic_pharmacok1.79996623
40MP0001661_extended_life_span1.79631699
41MP0000537_abnormal_urethra_morphology1.78324781
42MP0006276_abnormal_autonomic_nervous1.77778064
43MP0002837_dystrophic_cardiac_calcinosis1.74261614
44MP0005666_abnormal_adipose_tissue1.73052215
45MP0005647_abnormal_sex_gland1.67889054
46MP0005171_absent_coat_pigmentation1.67032675
47MP0001486_abnormal_startle_reflex1.66255156
48MP0000383_abnormal_hair_follicle1.59551782
49MP0003300_gastrointestinal_ulcer1.58091897
50MP0003315_abnormal_perineum_morphology1.58065971
51MP0000751_myopathy1.58050900
52MP0005075_abnormal_melanosome_morpholog1.55090306
53MP0002876_abnormal_thyroid_physiology1.54530375
54MP0002160_abnormal_reproductive_system1.54284882
55MP0003880_abnormal_central_pattern1.52823776
56MP0003252_abnormal_bile_duct1.52480943
57MP0005174_abnormal_tail_pigmentation1.48615093
58MP0004043_abnormal_pH_regulation1.45761162
59MP0002272_abnormal_nervous_system1.44211227
60MP0005375_adipose_tissue_phenotype1.43879184
61MP0002168_other_aberrant_phenotype1.41018807
62MP0001986_abnormal_taste_sensitivity1.40527204
63MP0004036_abnormal_muscle_relaxation1.35001926
64MP0001970_abnormal_pain_threshold1.33004702
65MP0005645_abnormal_hypothalamus_physiol1.30982449
66MP0003183_abnormal_peptide_metabolism1.28282348
67MP0005310_abnormal_salivary_gland1.27876535
68MP0000371_diluted_coat_color1.27349831
69MP0003718_maternal_effect1.26738766
70MP0002572_abnormal_emotion/affect_behav1.25621807
71MP0002254_reproductive_system_inflammat1.25294038
72MP0003936_abnormal_reproductive_system1.22748214
73MP0006072_abnormal_retinal_apoptosis1.22343417
74MP0002064_seizures1.20395271
75MP0004133_heterotaxia1.20120488
76MP0000631_abnormal_neuroendocrine_gland1.19630786
77MP0004272_abnormal_basement_membrane1.16610029
78MP0002009_preneoplasia1.14494216
79MP0000003_abnormal_adipose_tissue1.14005010
80MP0002938_white_spotting1.13925772
81MP0004142_abnormal_muscle_tone1.12449465
82MP0006054_spinal_hemorrhage1.11295139
83MP0001440_abnormal_grooming_behavior1.11039564
84MP0004742_abnormal_vestibular_system1.10005165
85MP0004885_abnormal_endolymph1.06943381
86MP0009780_abnormal_chondrocyte_physiolo1.06909994
87MP0004924_abnormal_behavior1.06871471
88MP0005386_behavior/neurological_phenoty1.06871471
89MP0004215_abnormal_myocardial_fiber1.06726795
90MP0010234_abnormal_vibrissa_follicle1.05874522
91MP0003787_abnormal_imprinting1.05791245
92MP0003329_amyloid_beta_deposits1.02265207
93MP0005085_abnormal_gallbladder_physiolo1.02221795
94MP0005389_reproductive_system_phenotype1.01943529
95MP0000230_abnormal_systemic_arterial1.01420868
96MP0002734_abnormal_mechanical_nocicepti1.00358387
97MP0004084_abnormal_cardiac_muscle0.96284186
98MP0002067_abnormal_sensory_capabilities0.95883258
99MP0006138_congestive_heart_failure0.94851307
100MP0001324_abnormal_eye_pigmentation0.94677063
101MP0003705_abnormal_hypodermis_morpholog0.93961691
102MP0005408_hypopigmentation0.93441066
103MP0009384_cardiac_valve_regurgitation0.93418441
104MP0003866_abnormal_defecation0.92815971
105MP0002234_abnormal_pharynx_morphology0.91754356
106MP0008961_abnormal_basal_metabolism0.91682458
107MP0004145_abnormal_muscle_electrophysio0.91406969
108MP0002638_abnormal_pupillary_reflex0.90751359
109MP0010329_abnormal_lipoprotein_level0.89875280
110MP0003635_abnormal_synaptic_transmissio0.89524541
111MP0004185_abnormal_adipocyte_glucose0.89459730
112MP0005167_abnormal_blood-brain_barrier0.89373577
113MP0002095_abnormal_skin_pigmentation0.89275447
114MP0002557_abnormal_social/conspecific_i0.85820109
115MP0010678_abnormal_skin_adnexa0.85545179
116MP0004858_abnormal_nervous_system0.85398940
117MP0003115_abnormal_respiratory_system0.84681218
118MP0004130_abnormal_muscle_cell0.84239510
119MP0001764_abnormal_homeostasis0.84215906
120MP0003011_delayed_dark_adaptation0.83699259
121MP0001765_abnormal_ion_homeostasis0.82845019
122MP0001529_abnormal_vocalization0.82652196
123MP0001919_abnormal_reproductive_system0.81396267
124MP0005623_abnormal_meninges_morphology0.80859526
125MP0005195_abnormal_posterior_eye0.78847366
126MP0004085_abnormal_heartbeat0.78530977
127MP0009278_abnormal_bone_marrow0.78128108
128MP0003633_abnormal_nervous_system0.77157828
129MP0001958_emphysema0.76381459
130MP0000538_abnormal_urinary_bladder0.75501149
131MP0002063_abnormal_learning/memory/cond0.74910726
132MP0008438_abnormal_cutaneous_collagen0.74135287
133MP0002693_abnormal_pancreas_physiology0.73703848
134MP0001664_abnormal_digestion0.73314007
135MP0003137_abnormal_impulse_conducting0.73244560
136MP0002282_abnormal_trachea_morphology0.72317005
137MP0009379_abnormal_foot_pigmentation0.71579026
138MP0001756_abnormal_urination0.70304892
139MP0002295_abnormal_pulmonary_circulatio0.69705970
140MP0001485_abnormal_pinna_reflex0.69028148
141MP0003283_abnormal_digestive_organ0.65507049
142MP0000604_amyloidosis0.64717122
143MP0009643_abnormal_urine_homeostasis0.64458426
144MP0000639_abnormal_adrenal_gland0.62550752
145MP0000534_abnormal_ureter_morphology0.62017345
146MP0004147_increased_porphyrin_level0.61487563
147MP0003566_abnormal_cell_adhesion0.60965142
148MP0002733_abnormal_thermal_nociception0.60718644
149MP0003690_abnormal_glial_cell0.59922212
150MP0003942_abnormal_urinary_system0.59840228
151MP0001853_heart_inflammation0.56918889
152MP0010386_abnormal_urinary_bladder0.53129370
153MP0000427_abnormal_hair_cycle0.52641383
154MP0005395_other_phenotype0.52098139
155MP0005636_abnormal_mineral_homeostasis0.51980989
156MP0005334_abnormal_fat_pad0.51657571
157MP0003123_paternal_imprinting0.49134778
158MP0005365_abnormal_bile_salt0.47983175
159MP0005275_abnormal_skin_tensile0.47742431
160MP0008260_abnormal_autophagy0.47692660
161MP0002118_abnormal_lipid_homeostasis0.47107676
162MP0002229_neurodegeneration0.46724007
163MP0003303_peritoneal_inflammation0.46498077
164MP0004087_abnormal_muscle_fiber0.45438683
165MP0000609_abnormal_liver_physiology0.44947913
166MP0002928_abnormal_bile_duct0.44833120
167MP0003699_abnormal_female_reproductive0.44171378
168MP0002896_abnormal_bone_mineralization0.43935059
169MP0000013_abnormal_adipose_tissue0.43644103
170MP0002138_abnormal_hepatobiliary_system0.43394032
171MP0002971_abnormal_brown_adipose0.43136454

Predicted human phenotypes

RankGene SetZ-score
1Gonadotropin excess (HP:0000837)6.65578289
2Male infertility (HP:0003251)6.55934443
311 pairs of ribs (HP:0000878)5.97955986
4Choroideremia (HP:0001139)5.79456738
5Hand muscle atrophy (HP:0009130)5.71068763
6Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.12515194
7Infertility (HP:0000789)5.05596920
8Azoospermia (HP:0000027)4.96484418
9Facial diplegia (HP:0001349)4.95771512
10Dynein arm defect of respiratory motile cilia (HP:0012255)4.95611670
11Absent/shortened dynein arms (HP:0200106)4.95611670
12Gonadal dysgenesis (HP:0000133)4.89218781
13Pancreatic cysts (HP:0001737)4.83792879
14Abnormality of the fovea (HP:0000493)4.68716153
15Pancreatic fibrosis (HP:0100732)4.60803639
16True hermaphroditism (HP:0010459)4.56855611
17Distal upper limb amyotrophy (HP:0007149)4.51057909
18Upper limb amyotrophy (HP:0009129)4.51057909
19Stridor (HP:0010307)4.39246782
20Metaphyseal cupping (HP:0003021)4.33560565
21Diaphragmatic weakness (HP:0009113)4.16231818
22Abnormal spermatogenesis (HP:0008669)4.04784834
23Ankle clonus (HP:0011448)4.00634784
24Missing ribs (HP:0000921)3.97125979
25Abnormality of midbrain morphology (HP:0002418)3.94378859
26Molar tooth sign on MRI (HP:0002419)3.94378859
27Hypopigmentation of the fundus (HP:0007894)3.84446758
28Complement deficiency (HP:0004431)3.75684173
29Testicular neoplasm (HP:0010788)3.63890900
30Congenital stationary night blindness (HP:0007642)3.62758828
31Male pseudohermaphroditism (HP:0000037)3.62733300
32Gaze-evoked nystagmus (HP:0000640)3.57597840
33Hyperventilation (HP:0002883)3.54124202
34Bony spicule pigmentary retinopathy (HP:0007737)3.51698639
35Abnormal rod and cone electroretinograms (HP:0008323)3.49698975
36Attenuation of retinal blood vessels (HP:0007843)3.47306213
37Genetic anticipation (HP:0003743)3.45917051
38Chronic hepatic failure (HP:0100626)3.38144312
39Tongue fasciculations (HP:0001308)3.31852140
40Cystic liver disease (HP:0006706)3.30827922
41Potter facies (HP:0002009)3.28443451
42Facial shape deformation (HP:0011334)3.28443451
43Muscle fibrillation (HP:0010546)3.27513734
44Abnormal respiratory motile cilium physiology (HP:0012261)3.22344749
45Abnormality of the renal medulla (HP:0100957)3.18373698
46Clumsiness (HP:0002312)3.18068828
47Myokymia (HP:0002411)3.17477289
48Abnormality of the lower motor neuron (HP:0002366)3.17299786
49Mesangial abnormality (HP:0001966)3.15158620
50Abnormality of the vocal cords (HP:0008777)3.15104796
51Progressive cerebellar ataxia (HP:0002073)3.13254024
52Medial flaring of the eyebrow (HP:0010747)3.12825822
53Abnormality of the renal cortex (HP:0011035)3.10627007
54Rhinitis (HP:0012384)3.03166143
55Nasal polyposis (HP:0100582)3.00978935
56Abolished electroretinogram (ERG) (HP:0000550)2.99551942
57Hypoventilation (HP:0002791)2.93295580
58Chronic bronchitis (HP:0004469)2.92142046
59Abnormality of the musculature of the hand (HP:0001421)2.89336795
60Congenital sensorineural hearing impairment (HP:0008527)2.86659090
61Myopathic facies (HP:0002058)2.85536361
62Type II lissencephaly (HP:0007260)2.78432102
63Aplasia/Hypoplasia of the tongue (HP:0010295)2.73721933
64Abnormal respiratory epithelium morphology (HP:0012253)2.71183043
65Abnormal respiratory motile cilium morphology (HP:0005938)2.71183043
66Aplasia/Hypoplasia of the tibia (HP:0005772)2.68908838
67Abnormality of male internal genitalia (HP:0000022)2.59937882
68Vascular calcification (HP:0004934)2.57155849
69Absent speech (HP:0001344)2.56885526
70Clonus (HP:0002169)2.56807371
71Abnormality of complement system (HP:0005339)2.55987745
72Congenital hepatic fibrosis (HP:0002612)2.55217460
73Abnormality of the nasal mucosa (HP:0000433)2.54485124
74Postaxial foot polydactyly (HP:0001830)2.52974635
75Vacuolated lymphocytes (HP:0001922)2.52236442
76Gait imbalance (HP:0002141)2.51016046
77Action tremor (HP:0002345)2.50908225
78Congenital primary aphakia (HP:0007707)2.50648335
79Stage 5 chronic kidney disease (HP:0003774)2.48337460
80Increased corneal curvature (HP:0100692)2.47372793
81Keratoconus (HP:0000563)2.47372793
82Central scotoma (HP:0000603)2.46747866
83Sclerocornea (HP:0000647)2.46073028
84Cardiovascular calcification (HP:0011915)2.46072724
85Rectal prolapse (HP:0002035)2.42737900
86Furrowed tongue (HP:0000221)2.42620404
87Nephrogenic diabetes insipidus (HP:0009806)2.38742539
88Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.36452143
89Abnormality of alanine metabolism (HP:0010916)2.36452143
90Hyperalaninemia (HP:0003348)2.36452143
91Constricted visual fields (HP:0001133)2.35743767
92Sex reversal (HP:0012245)2.35742813
93Abnormal sex determination (HP:0012244)2.35742813
94Decreased circulating renin level (HP:0003351)2.35207197
95Decreased central vision (HP:0007663)2.33986388
96Cerebellar dysplasia (HP:0007033)2.33369034
97Fair hair (HP:0002286)2.32623331
98Neurofibrillary tangles (HP:0002185)2.30770780
99Polydipsia (HP:0001959)2.30667801
100Abnormal drinking behavior (HP:0030082)2.30667801
101Anencephaly (HP:0002323)2.30550001
102Genital tract atresia (HP:0001827)2.30206462
103Tubulointerstitial fibrosis (HP:0005576)2.29074076
104Occipital encephalocele (HP:0002085)2.26032834
105Cerebral inclusion bodies (HP:0100314)2.25866131
106Follicular hyperkeratosis (HP:0007502)2.24838150
107Abnormality of the calcaneus (HP:0008364)2.24041872
108Absent rod-and cone-mediated responses on ERG (HP:0007688)2.22355350
109Fasciculations (HP:0002380)2.19506681
110Inability to walk (HP:0002540)2.19218563
111Focal seizures (HP:0007359)2.18469495
112Hyperpituitarism (HP:0010514)2.18037919
113Germ cell neoplasia (HP:0100728)2.16531933
114Abnormal hemoglobin (HP:0011902)2.16424838
115Febrile seizures (HP:0002373)2.15693282
116Vaginal atresia (HP:0000148)2.10623112
117Hyporeflexia of lower limbs (HP:0002600)2.09905446
118Oligomenorrhea (HP:0000876)2.09901155
119Abnormal ciliary motility (HP:0012262)2.09722047
120Renal cortical cysts (HP:0000803)2.08486763
121Dialeptic seizures (HP:0011146)2.04595884
122Intention tremor (HP:0002080)2.04522103
123Protruding tongue (HP:0010808)2.04139163
124Progressive inability to walk (HP:0002505)2.03837591
125Aplasia/Hypoplasia of the fovea (HP:0008060)2.02443506
126Hypoplasia of the fovea (HP:0007750)2.02443506
127Bulbar palsy (HP:0001283)2.02114026
128Testicular atrophy (HP:0000029)2.01069808
129Recurrent gram-negative bacterial infections (HP:0005420)1.99341238
130Tubulointerstitial nephritis (HP:0001970)1.98165881
131Large for gestational age (HP:0001520)1.96558232
132Hypoplasia of the uterus (HP:0000013)1.95443616
133Neoplasm of the heart (HP:0100544)1.94930387
134Pendular nystagmus (HP:0012043)1.93623314
135Focal segmental glomerulosclerosis (HP:0000097)1.93217225
136Retinitis pigmentosa (HP:0000510)1.92526005
137Ventricular fibrillation (HP:0001663)1.92494580
138Abnormal biliary tract physiology (HP:0012439)1.91171212
139Bile duct proliferation (HP:0001408)1.91171212
140Decreased electroretinogram (ERG) amplitude (HP:0000654)1.91089253
141Tubulointerstitial abnormality (HP:0001969)1.90327834
142Preaxial hand polydactyly (HP:0001177)1.88744702
143Broad-based gait (HP:0002136)1.88732105
144Oculomotor apraxia (HP:0000657)1.88471061
145Generalized hypopigmentation of hair (HP:0011358)1.88377226
146Fibular hypoplasia (HP:0003038)1.87940363
147Focal motor seizures (HP:0011153)1.87615578
148Lissencephaly (HP:0001339)1.87179582
149Myocardial infarction (HP:0001658)1.85381443
150Bronchitis (HP:0012387)1.83987034
151Chorioretinal atrophy (HP:0000533)1.82317196
152Degeneration of the lateral corticospinal tracts (HP:0002314)1.82106651
153Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.82106651
154Small hand (HP:0200055)1.81824968
155Scotoma (HP:0000575)1.81410883
156Abnormality of chloride homeostasis (HP:0011422)1.81361331
157Poor coordination (HP:0002370)1.81233572
158Postaxial hand polydactyly (HP:0001162)1.79954039
159Polyuria (HP:0000103)1.78543400
160Tubular atrophy (HP:0000092)1.78358382
161Widely spaced teeth (HP:0000687)1.77731211
162Ketoacidosis (HP:0001993)1.76932120
163Recurrent sinusitis (HP:0011108)1.75647463
164Hypothermia (HP:0002045)1.73616360
165Astigmatism (HP:0000483)1.71822575
166Hemiparesis (HP:0001269)1.71739344
167Abnormality of the hepatic vasculature (HP:0006707)1.71160801
168Supranuclear gaze palsy (HP:0000605)1.69747395
169Bronchiectasis (HP:0002110)1.68009720
170Abnormality of dentin (HP:0010299)1.67519640
171Nephronophthisis (HP:0000090)1.67089004
172Subcapsular cataract (HP:0000523)1.66332506
173Transposition of the great arteries (HP:0001669)1.65941773
174Abnormal connection of the cardiac segments (HP:0011545)1.65941773
175Abnormal ventriculo-arterial connection (HP:0011563)1.65941773
176Primary amenorrhea (HP:0000786)1.65771709
177Proximal amyotrophy (HP:0007126)1.63254469
178Hyperkalemia (HP:0002153)1.61716788
179Loss of speech (HP:0002371)1.61572019
180Difficulty climbing stairs (HP:0003551)1.60682575
181Abnormality of macular pigmentation (HP:0008002)1.59593739
182Impulsivity (HP:0100710)1.57534773

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PRKD34.92488398
2PDK34.78337335
3PDK44.78337335
4WNK43.89467075
5TESK13.69451770
6TYRO33.36296250
7LMTK22.98778647
8ICK2.95157106
9PDK22.93776369
10PTK2B2.92293501
11ACVR1B2.74108177
12BMPR1B2.62626118
13TRIB32.56080344
14ADRBK22.54692579
15MAP4K22.44404931
16TRIM282.42143215
17WNK12.20492007
18PINK12.13453688
19INSRR2.10952889
20STK392.04300043
21GRK51.98660300
22CDK121.96747367
23GRK11.96533823
24MYLK1.94416000
25MAPK131.85216606
26OXSR11.85099930
27RIPK11.81349062
28FER1.79521755
29NUAK11.73739450
30ZAK1.68110419
31ERN11.65140955
32EPHB11.59119093
33CASK1.58442539
34TNK21.52988081
35LATS11.46366735
36TXK1.38434302
37CAMK1G1.32128217
38BCR1.29594967
39DAPK21.25082619
40PKN21.23820514
41ADRBK11.21675537
42PDGFRA1.21446674
43MKNK21.20709803
44SIK11.20629112
45PTK61.20537516
46MAP3K41.17539219
47CAMK1D1.17324091
48CDK191.15288101
49PIK3CG1.15227456
50NTRK31.13751551
51TNIK1.04703724
52CDK91.00243922
53WNK31.00014498
54FRK0.97995929
55PAK20.97714269
56PRKCE0.93529952
57TEC0.91855997
58RET0.91318035
59MAP3K20.90896496
60PTK20.87678370
61STK380.85557465
62MAP2K20.83436198
63ERBB30.82965190
64TAOK30.80863626
65EEF2K0.80748035
66MARK10.79099776
67PAK40.78285436
68EIF2AK30.76370542
69NLK0.74787132
70MUSK0.74246975
71MAPKAPK50.74187105
72MAP3K70.72812631
73BMX0.72270148
74CSNK1G10.71299987
75CSNK1G20.70598464
76TRPM70.69553235
77TGFBR10.69514730
78MTOR0.68976160
79NEK20.66827185
80KSR20.66540846
81PIK3CA0.66075771
82PAK30.65532631
83PRKCG0.63500161
84MKNK10.63392556
85PLK20.62377267
86IRAK10.62335493
87BRSK20.61806165
88PNCK0.60642713
89LIMK10.60457694
90CAMK2A0.59458435
91EPHA40.59357430
92PRKAA20.59192300
93CSNK1G30.59099891
94TTN0.57907774
95PKN10.54940361
96MAP2K40.54394510
97STK30.53861838
98IRAK30.52598442
99PDGFRB0.51692815
100FGFR20.50301359
101STK38L0.50150670
102DDR20.48680466
103PRKCH0.48282817
104BRD40.48191837
105CAMKK20.47451730
106LATS20.47025273
107NTRK10.45227414
108DMPK0.45132319
109LRRK20.44593077
110AKT30.43981123
111EGFR0.43620068
112PAK60.43173638
113PHKG20.42930454
114PHKG10.42930454
115CDK70.42875602
116TLK10.42021712
117OBSCN0.41966170
118MARK30.41624036
119MET0.41529726
120GRK70.41298963
121PRKACA0.40725540
122PRKCQ0.40654416
123CSNK1A10.39848913
124MAP2K70.39146852
125ITK0.38842900
126CHUK0.38817377
127IKBKB0.38446575
128PDK10.38007241
129EPHA30.37595231
130CSNK1D0.37362903
131KIT0.36297327
132PRKAA10.35858203
133STK110.35484115
134PRKACG0.34951910
135PRKG10.33423049
136PRKCA0.33109790
137BCKDK0.32808214
138MAPKAPK30.32775874
139PRKCZ0.32640207
140EPHB20.30570697
141MST40.30162998
142PRKD20.29906438
143CDC42BPA0.29862086
144CCNB10.29566179
145RIPK40.29106140
146CHEK20.29086301
147ABL10.28929520
148MAPK150.28705780
149PRKACB0.28614583
150PAK10.27522799
151GSK3A0.26887764
152SRC0.26309851
153CDK60.26249254
154CSNK1A1L0.26108469
155ERBB20.26070963
156MAP3K10.25653374
157INSR0.25441616
158PRKCB0.25251943
159MAP2K60.24943724
160CAMK10.24808601
161STK240.24721925
162TTK0.24699918
163RPS6KA20.24625413
164MAP2K10.22815053
165RPS6KB10.21876839
166MAPK80.20169595
167MINK10.19028389
168MATK0.19018408
169MAPK30.18885930
170PDPK10.18570497
171ATR0.18370044
172FGFR40.17640170

Predicted pathways (KEGG)

RankGene SetZ-score
1Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.71687728
2Vitamin B6 metabolism_Homo sapiens_hsa007503.00435247
3Fatty acid metabolism_Homo sapiens_hsa012122.92422193
4PPAR signaling pathway_Homo sapiens_hsa033202.83432918
5Butanoate metabolism_Homo sapiens_hsa006502.81191776
6Fatty acid biosynthesis_Homo sapiens_hsa000612.73282446
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.60830072
8Glycerolipid metabolism_Homo sapiens_hsa005612.56561562
9Pyruvate metabolism_Homo sapiens_hsa006202.48306737
10Phototransduction_Homo sapiens_hsa047442.43480635
11Glutathione metabolism_Homo sapiens_hsa004802.41869747
12Fatty acid degradation_Homo sapiens_hsa000712.40402242
13Dorso-ventral axis formation_Homo sapiens_hsa043202.31436222
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.26167555
15Nicotine addiction_Homo sapiens_hsa050332.19865113
16Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.19524256
17Nitrogen metabolism_Homo sapiens_hsa009102.13766053
18Propanoate metabolism_Homo sapiens_hsa006402.12959649
19Sulfur metabolism_Homo sapiens_hsa009202.12461872
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.10841154
21Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.03246185
22Ether lipid metabolism_Homo sapiens_hsa005651.96030976
23ABC transporters_Homo sapiens_hsa020101.91382873
24Steroid hormone biosynthesis_Homo sapiens_hsa001401.87809563
25Histidine metabolism_Homo sapiens_hsa003401.84623226
26Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.83324009
27Thyroid hormone synthesis_Homo sapiens_hsa049181.82631086
28Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.76936554
29Caffeine metabolism_Homo sapiens_hsa002321.73902802
30Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.73635245
31Arachidonic acid metabolism_Homo sapiens_hsa005901.72662733
32Olfactory transduction_Homo sapiens_hsa047401.72641969
33Taste transduction_Homo sapiens_hsa047421.72291618
34Homologous recombination_Homo sapiens_hsa034401.68277697
35Renin secretion_Homo sapiens_hsa049241.63573948
36Maturity onset diabetes of the young_Homo sapiens_hsa049501.60732714
37Vitamin digestion and absorption_Homo sapiens_hsa049771.58176384
38Retinol metabolism_Homo sapiens_hsa008301.50692263
39Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.47644895
40Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.42213821
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.41960254
42Morphine addiction_Homo sapiens_hsa050321.38031189
43Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.37327463
44Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.36559728
45Fat digestion and absorption_Homo sapiens_hsa049751.34621424
46Fanconi anemia pathway_Homo sapiens_hsa034601.34395740
47Complement and coagulation cascades_Homo sapiens_hsa046101.29952796
48Salivary secretion_Homo sapiens_hsa049701.29492964
49Other glycan degradation_Homo sapiens_hsa005111.28039428
50Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.23919852
51Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.22745722
52Protein digestion and absorption_Homo sapiens_hsa049741.20891762
53Mineral absorption_Homo sapiens_hsa049781.18330107
54Serotonergic synapse_Homo sapiens_hsa047261.17102019
55Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.16165679
56Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.15809781
57Basal transcription factors_Homo sapiens_hsa030221.11218824
58Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.10188655
59Circadian entrainment_Homo sapiens_hsa047131.09563273
60Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.09360061
61Tryptophan metabolism_Homo sapiens_hsa003801.08712642
62Carbon metabolism_Homo sapiens_hsa012001.07465902
63Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.06472583
64Calcium signaling pathway_Homo sapiens_hsa040201.05399280
65Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.05368082
66Glutamatergic synapse_Homo sapiens_hsa047241.04919209
67Prion diseases_Homo sapiens_hsa050201.03401983
68GABAergic synapse_Homo sapiens_hsa047271.02850445
69Chemical carcinogenesis_Homo sapiens_hsa052041.01139129
70ECM-receptor interaction_Homo sapiens_hsa045120.96699553
71Linoleic acid metabolism_Homo sapiens_hsa005910.95881827
72Cardiac muscle contraction_Homo sapiens_hsa042600.93646485
73Peroxisome_Homo sapiens_hsa041460.92621570
74Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.92488917
75Intestinal immune network for IgA production_Homo sapiens_hsa046720.90103368
76Glucagon signaling pathway_Homo sapiens_hsa049220.89410786
77Insulin secretion_Homo sapiens_hsa049110.85890843
78cGMP-PKG signaling pathway_Homo sapiens_hsa040220.85567343
79Sphingolipid metabolism_Homo sapiens_hsa006000.84373520
80Non-homologous end-joining_Homo sapiens_hsa034500.83483601
81RNA polymerase_Homo sapiens_hsa030200.83177789
82Estrogen signaling pathway_Homo sapiens_hsa049150.82249561
83Oocyte meiosis_Homo sapiens_hsa041140.81262405
84Fatty acid elongation_Homo sapiens_hsa000620.80936729
85Pentose and glucuronate interconversions_Homo sapiens_hsa000400.79369595
86Gastric acid secretion_Homo sapiens_hsa049710.79348642
87Vascular smooth muscle contraction_Homo sapiens_hsa042700.79292502
88Asthma_Homo sapiens_hsa053100.78526404
89Tyrosine metabolism_Homo sapiens_hsa003500.77237157
90Adipocytokine signaling pathway_Homo sapiens_hsa049200.72862108
91Lysosome_Homo sapiens_hsa041420.72471597
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.71345095
93Ovarian steroidogenesis_Homo sapiens_hsa049130.70689304
94Arginine biosynthesis_Homo sapiens_hsa002200.69812873
95Bile secretion_Homo sapiens_hsa049760.69283124
96Circadian rhythm_Homo sapiens_hsa047100.68819348
97Huntingtons disease_Homo sapiens_hsa050160.67421952
98Selenocompound metabolism_Homo sapiens_hsa004500.66407317
99Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.65916632
100Pentose phosphate pathway_Homo sapiens_hsa000300.64356478
101Long-term depression_Homo sapiens_hsa047300.63763611
102Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.62252102
103Primary bile acid biosynthesis_Homo sapiens_hsa001200.59688741
104Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58458522
105Purine metabolism_Homo sapiens_hsa002300.57549807
106One carbon pool by folate_Homo sapiens_hsa006700.56821465
107cAMP signaling pathway_Homo sapiens_hsa040240.56548402
108Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56505863
109Protein export_Homo sapiens_hsa030600.53790350
110Cysteine and methionine metabolism_Homo sapiens_hsa002700.53449435
111Dopaminergic synapse_Homo sapiens_hsa047280.52380946
112Phenylalanine metabolism_Homo sapiens_hsa003600.52128223
113Hedgehog signaling pathway_Homo sapiens_hsa043400.52004343
114Oxidative phosphorylation_Homo sapiens_hsa001900.51451576
115Regulation of autophagy_Homo sapiens_hsa041400.51053427
116Oxytocin signaling pathway_Homo sapiens_hsa049210.49774517
117Metabolic pathways_Homo sapiens_hsa011000.49179393
118Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.49016416
119Glycerophospholipid metabolism_Homo sapiens_hsa005640.48755992
120beta-Alanine metabolism_Homo sapiens_hsa004100.48574567
121Biosynthesis of amino acids_Homo sapiens_hsa012300.47987297
122Alzheimers disease_Homo sapiens_hsa050100.47678884
123Central carbon metabolism in cancer_Homo sapiens_hsa052300.47636135
124Parkinsons disease_Homo sapiens_hsa050120.46551848
125Tight junction_Homo sapiens_hsa045300.46330833
126Vibrio cholerae infection_Homo sapiens_hsa051100.44806844
127mRNA surveillance pathway_Homo sapiens_hsa030150.44751190
128Long-term potentiation_Homo sapiens_hsa047200.43760460
129Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.43115643
130Cholinergic synapse_Homo sapiens_hsa047250.43109881
131Amoebiasis_Homo sapiens_hsa051460.42541369
132Antigen processing and presentation_Homo sapiens_hsa046120.41523858
1332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.41378966
134Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.40098873
135Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.39932052
136Collecting duct acid secretion_Homo sapiens_hsa049660.39545168
137Aldosterone synthesis and secretion_Homo sapiens_hsa049250.39144821
138Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.38968920
139Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.38299988
140Focal adhesion_Homo sapiens_hsa045100.37378562
141Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.37023345
142Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.36538846
143AMPK signaling pathway_Homo sapiens_hsa041520.34735029
144Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.34591463
145VEGF signaling pathway_Homo sapiens_hsa043700.34531481
146Insulin resistance_Homo sapiens_hsa049310.33951468
147Type I diabetes mellitus_Homo sapiens_hsa049400.33617250
148Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32785725
149Graft-versus-host disease_Homo sapiens_hsa053320.32440536
150Starch and sucrose metabolism_Homo sapiens_hsa005000.31300565
151Pancreatic secretion_Homo sapiens_hsa049720.30048436
152SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29772287
153Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29737675
154Amphetamine addiction_Homo sapiens_hsa050310.27753466
155Lysine degradation_Homo sapiens_hsa003100.26753383
156Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.26690889
157N-Glycan biosynthesis_Homo sapiens_hsa005100.25760555

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