WFDC1

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 WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of skeletal muscle contraction (GO:0014819)6.69434524
2muscle filament sliding (GO:0030049)4.87257460
3actin-myosin filament sliding (GO:0033275)4.87257460
4positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.74176748
5behavioral response to nicotine (GO:0035095)4.69798671
6lymph vessel development (GO:0001945)4.51795390
7detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.51200153
8endothelium development (GO:0003158)4.39445666
9surfactant homeostasis (GO:0043129)4.37243728
10actin-mediated cell contraction (GO:0070252)4.25759626
11indole-containing compound catabolic process (GO:0042436)4.17188519
12indolalkylamine catabolic process (GO:0046218)4.17188519
13tryptophan catabolic process (GO:0006569)4.17188519
14indolalkylamine metabolic process (GO:0006586)4.10067228
15negative regulation of mast cell activation (GO:0033004)4.08584718
16kynurenine metabolic process (GO:0070189)4.05391034
17fucose catabolic process (GO:0019317)3.97068560
18L-fucose metabolic process (GO:0042354)3.97068560
19L-fucose catabolic process (GO:0042355)3.97068560
20detection of light stimulus involved in visual perception (GO:0050908)3.87662643
21detection of light stimulus involved in sensory perception (GO:0050962)3.87662643
22respiratory tube development (GO:0030323)3.79200384
23negative regulation of complement activation (GO:0045916)3.70876379
24glomerular basement membrane development (GO:0032836)3.70785319
25vascular endothelial growth factor signaling pathway (GO:0038084)3.70675924
26ketone body metabolic process (GO:1902224)3.65496843
27chemical homeostasis within a tissue (GO:0048875)3.64160068
28response to pheromone (GO:0019236)3.61388639
29regulation of hippo signaling (GO:0035330)3.60032668
30regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.59121140
31tryptophan metabolic process (GO:0006568)3.58085521
32plasma membrane repair (GO:0001778)3.56239643
33proline transport (GO:0015824)3.55944548
34sarcomere organization (GO:0045214)3.55515328
35G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.54730338
36heart trabecula formation (GO:0060347)3.54018388
37signal peptide processing (GO:0006465)3.49133028
38detection of mechanical stimulus involved in sensory perception (GO:0050974)3.41612986
39skeletal muscle adaptation (GO:0043501)3.41570521
40negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.40392638
41lymphangiogenesis (GO:0001946)3.37984854
42reflex (GO:0060004)3.37874570
43negative regulation of synaptic transmission, GABAergic (GO:0032229)3.35801673
44regulation of vasculogenesis (GO:2001212)3.33850613
45regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.32849810
46actin filament-based movement (GO:0030048)3.30987377
47skeletal muscle contraction (GO:0003009)3.30790877
48retinal cone cell development (GO:0046549)3.30159372
49negative regulation of protein activation cascade (GO:2000258)3.29770995
50negative regulation of potassium ion transmembrane transport (GO:1901380)3.27109457
51positive regulation of vasculogenesis (GO:2001214)3.27022313
52sarcoplasmic reticulum calcium ion transport (GO:0070296)3.22235663
53cellular ketone body metabolic process (GO:0046950)3.22097390
54secondary metabolite biosynthetic process (GO:0044550)3.21928461
55regulation of p38MAPK cascade (GO:1900744)3.18220793
56myofibril assembly (GO:0030239)3.17815184
57glomerulus development (GO:0032835)3.13145385
58creatine metabolic process (GO:0006600)3.12376542
59melanin biosynthetic process (GO:0042438)3.12007305
60indole-containing compound metabolic process (GO:0042430)3.11753523
61negative regulation of cytosolic calcium ion concentration (GO:0051481)3.07964463
62cyclic nucleotide catabolic process (GO:0009214)3.06258671
63negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.05848070
64behavioral response to ethanol (GO:0048149)3.05554333
65auditory receptor cell stereocilium organization (GO:0060088)3.02802358
66cAMP catabolic process (GO:0006198)3.01852915
67basement membrane organization (GO:0071711)2.98942559
68cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.98005977
69cardiac myofibril assembly (GO:0055003)2.97829927
70platelet dense granule organization (GO:0060155)2.97629713
71gamma-aminobutyric acid transport (GO:0015812)2.96978076
72cornea development in camera-type eye (GO:0061303)2.94629066
73sulfation (GO:0051923)2.94622365
74carnitine shuttle (GO:0006853)2.93320719
75peptidyl-tyrosine autophosphorylation (GO:0038083)2.92891073
76protein K11-linked deubiquitination (GO:0035871)2.89055340
77regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.86164182
78atrioventricular valve morphogenesis (GO:0003181)2.86017102
79regulation of endothelial cell differentiation (GO:0045601)2.85239466
80serotonin metabolic process (GO:0042428)2.83435166
81striated muscle contraction (GO:0006941)2.82631962
82cellular biogenic amine catabolic process (GO:0042402)2.82109453
83amine catabolic process (GO:0009310)2.82109453
84endocardial cushion morphogenesis (GO:0003203)2.81874705
85tachykinin receptor signaling pathway (GO:0007217)2.81259139
86smooth muscle tissue development (GO:0048745)2.80080642
87piRNA metabolic process (GO:0034587)2.79748177
88neural tube formation (GO:0001841)2.79691938
89primary amino compound metabolic process (GO:1901160)2.79142559
90photoreceptor cell maintenance (GO:0045494)2.77515706
91NAD biosynthetic process (GO:0009435)2.77449440
92glycogen catabolic process (GO:0005980)2.77195245
93melanin metabolic process (GO:0006582)2.77109499
94regulation of cardioblast proliferation (GO:0003264)2.76708609
95regulation of secondary heart field cardioblast proliferation (GO:0003266)2.76708609
96regulation of cardioblast differentiation (GO:0051890)2.75342229
97regulation of cell communication by electrical coupling (GO:0010649)2.74838044
98relaxation of muscle (GO:0090075)2.74619974
99muscle contraction (GO:0006936)2.73981667
100benzene-containing compound metabolic process (GO:0042537)2.73661169
101neuronal action potential (GO:0019228)2.73618649
102actomyosin structure organization (GO:0031032)2.72757179
103cellular response to ATP (GO:0071318)2.72407816
104blood vessel maturation (GO:0001955)2.71894652
105positive regulation of p38MAPK cascade (GO:1900745)2.71657189
106negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.71524303
107negative regulation of translation, ncRNA-mediated (GO:0040033)2.71524303
108regulation of translation, ncRNA-mediated (GO:0045974)2.71524303
109membrane depolarization during action potential (GO:0086010)2.70222642
110fatty acid transmembrane transport (GO:1902001)2.70182589
111relaxation of cardiac muscle (GO:0055119)2.69989204
112inner ear receptor stereocilium organization (GO:0060122)2.67925763
113ovulation from ovarian follicle (GO:0001542)2.66840515
114membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.65476193
115epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.64342056
116endothelial tube morphogenesis (GO:0061154)2.63513066
117morphogenesis of an endothelium (GO:0003159)2.63513066
118trabecula formation (GO:0060343)2.63122592
119cilium or flagellum-dependent cell motility (GO:0001539)2.62737382
120L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.62458070
121regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.61781330
122regulation of actin filament-based movement (GO:1903115)2.61019159
123positive regulation of endothelial cell differentiation (GO:0045603)2.59890960
124retina vasculature morphogenesis in camera-type eye (GO:0061299)2.59399280
125muscle system process (GO:0003012)2.59181221
126pyrimidine ribonucleoside catabolic process (GO:0046133)2.58683391
127rhodopsin mediated signaling pathway (GO:0016056)2.58418874
128cardiac muscle contraction (GO:0060048)2.57850483
129regulation of rhodopsin mediated signaling pathway (GO:0022400)2.57805468
130peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.57797586
131regulation of short-term neuronal synaptic plasticity (GO:0048172)2.57430828
132glucan catabolic process (GO:0009251)2.57383442
133neuronal action potential propagation (GO:0019227)2.56600556
134endothelial cell differentiation (GO:0045446)2.56524664
135endocardial cushion development (GO:0003197)2.56403046
136regulation of neurotransmitter uptake (GO:0051580)2.55992991
137glucan biosynthetic process (GO:0009250)2.55315800
138glycogen biosynthetic process (GO:0005978)2.55315800
139negative regulation of protein localization to cell surface (GO:2000009)2.55071839
140photoreceptor cell development (GO:0042461)2.54819140
141axoneme assembly (GO:0035082)2.52301113
142midgut development (GO:0007494)2.52241524
143DNA deamination (GO:0045006)2.51282340
144regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.50635140
145positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.50300492
146regulation of striated muscle contraction (GO:0006942)2.49143850
147negative regulation of heart growth (GO:0061117)2.47976001
148negative regulation of cardiac muscle tissue growth (GO:0055022)2.47976001
149lung vasculature development (GO:0060426)2.47692499
150alanine transport (GO:0032328)2.47654868
151gonadal mesoderm development (GO:0007506)2.47389210
152regulation of skeletal muscle cell differentiation (GO:2001014)2.47343517
153regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.46501020
154cellular polysaccharide catabolic process (GO:0044247)2.46481719
155thyroid hormone metabolic process (GO:0042403)2.46304452
156preassembly of GPI anchor in ER membrane (GO:0016254)2.46115845
157response to mercury ion (GO:0046689)2.45864488
158visual perception (GO:0007601)2.44643664
159regulation of relaxation of muscle (GO:1901077)2.44019691
160fibroblast migration (GO:0010761)2.43659651
161regulation of sarcomere organization (GO:0060297)2.43499283
162regulation of complement activation (GO:0030449)2.43439175
163sensory perception of light stimulus (GO:0050953)2.42623454
164dopamine transport (GO:0015872)2.42473061
165endothelial cell morphogenesis (GO:0001886)2.41747613
166aromatic amino acid family metabolic process (GO:0009072)2.41540300
167regulation of action potential (GO:0098900)2.41445449
168phosphatidylinositol acyl-chain remodeling (GO:0036149)2.41308755
169melanocyte differentiation (GO:0030318)2.40926609
170negative regulation of blood vessel endothelial cell migration (GO:0043537)2.40685683
171smooth muscle contraction (GO:0006939)2.40364355
172glomerular filtration (GO:0003094)2.39965971
173startle response (GO:0001964)2.39498930
174mannosylation (GO:0097502)2.38996323
175positive regulation of male gonad development (GO:2000020)2.38962722
176multicellular organism reproduction (GO:0032504)2.36368863
177regulation of protein activation cascade (GO:2000257)2.35969117
178adherens junction assembly (GO:0034333)2.35512918
179righting reflex (GO:0060013)2.35031306
180pigment cell differentiation (GO:0050931)2.34532813
181blood vessel remodeling (GO:0001974)2.33721013
182eye photoreceptor cell development (GO:0042462)2.33565379
183skeletal muscle fiber development (GO:0048741)2.33546928
184xenobiotic catabolic process (GO:0042178)2.33442827
185adaptation of signaling pathway (GO:0023058)2.32826389
186transmission of nerve impulse (GO:0019226)2.32724151
187renal filtration (GO:0097205)2.31495650
188cilium morphogenesis (GO:0060271)2.29853668
189regulation of gene silencing by RNA (GO:0060966)2.29569247
190regulation of posttranscriptional gene silencing (GO:0060147)2.29569247
191regulation of gene silencing by miRNA (GO:0060964)2.29569247
192patterning of blood vessels (GO:0001569)2.29166690
193polysaccharide catabolic process (GO:0000272)2.28514811
194regulation of female gonad development (GO:2000194)2.28121769
195negative regulation of potassium ion transport (GO:0043267)2.28089355
196carnitine transmembrane transport (GO:1902603)2.27744221
197L-methionine biosynthetic process (GO:0071265)2.26982832
198amino acid salvage (GO:0043102)2.26982832

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human3.08348040
2GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.71651309
3VDR_22108803_ChIP-Seq_LS180_Human2.68882471
4ZFP57_27257070_Chip-Seq_ESCs_Mouse2.65284128
5CDX2_19796622_ChIP-Seq_MESCs_Mouse2.55331717
6RARG_19884340_ChIP-ChIP_MEFs_Mouse2.51112086
7CLOCK_20551151_ChIP-Seq_293T_Human2.39688350
8CTBP2_25329375_ChIP-Seq_LNCAP_Human2.27832410
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.23290969
10ESR1_20079471_ChIP-ChIP_T-47D_Human2.21193603
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.20698714
12POU3F2_20337985_ChIP-ChIP_501MEL_Human2.09758566
13IGF1R_20145208_ChIP-Seq_DFB_Human2.09414045
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.08303242
15EP300_21415370_ChIP-Seq_HL-1_Mouse2.05336053
16ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.04206053
17ESR1_21235772_ChIP-Seq_MCF-7_Human2.04014788
18TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.01819056
19AR_21572438_ChIP-Seq_LNCaP_Human2.01347361
20FLI1_27457419_Chip-Seq_LIVER_Mouse1.97847180
21TAF15_26573619_Chip-Seq_HEK293_Human1.96230599
22P300_19829295_ChIP-Seq_ESCs_Human1.95029554
23AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.88833592
24FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.87383593
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.86705678
26CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83461653
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.81635325
28PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.79173240
29SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.79144148
30PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.78504994
31SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.76232495
32PCGF2_27294783_Chip-Seq_ESCs_Mouse1.71583397
33RXR_22158963_ChIP-Seq_LIVER_Mouse1.70389191
34EWS_26573619_Chip-Seq_HEK293_Human1.70225126
35SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.70068623
36LXR_22158963_ChIP-Seq_LIVER_Mouse1.69836601
37SMAD4_21799915_ChIP-Seq_A2780_Human1.69509095
38STAT3_23295773_ChIP-Seq_U87_Human1.69414301
39EZH2_18974828_ChIP-Seq_MESCs_Mouse1.69275257
40RNF2_18974828_ChIP-Seq_MESCs_Mouse1.69275257
41ZNF217_24962896_ChIP-Seq_MCF-7_Human1.57772655
42TCF4_23295773_ChIP-Seq_U87_Human1.57293261
43EED_16625203_ChIP-ChIP_MESCs_Mouse1.56257238
44TBX20_22328084_ChIP-Seq_HEART_Mouse1.56054551
45TBX20_22080862_ChIP-Seq_HEART_Mouse1.56054551
46SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.55869900
47NR3C1_21868756_ChIP-Seq_MCF10A_Human1.55218516
48ER_23166858_ChIP-Seq_MCF-7_Human1.55193297
49UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.55160534
50MTF2_20144788_ChIP-Seq_MESCs_Mouse1.54049942
51FUS_26573619_Chip-Seq_HEK293_Human1.53789044
52MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.51551312
53CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.50940297
54AR_25329375_ChIP-Seq_VCAP_Human1.50700410
55BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.49237990
56PPARA_22158963_ChIP-Seq_LIVER_Mouse1.48542379
57GATA2_21666600_ChIP-Seq_HMVEC_Human1.47836926
58* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.46166070
59PCGF2_27294783_Chip-Seq_NPCs_Mouse1.44603851
60RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.44598056
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.43433089
62SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.42824063
63IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.40021405
64CBP_20019798_ChIP-Seq_JUKART_Human1.40021405
65JARID2_20064375_ChIP-Seq_MESCs_Mouse1.39951692
66EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.39090690
67SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.38548240
68TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.38512490
69POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.38512490
70JARID2_20075857_ChIP-Seq_MESCs_Mouse1.38291035
71SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.37488689
72WT1_19549856_ChIP-ChIP_CCG9911_Human1.35765013
73SUZ12_27294783_Chip-Seq_ESCs_Mouse1.33992480
74EZH2_27294783_Chip-Seq_ESCs_Mouse1.33597358
75* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.33403112
76EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.32475264
77REST_21632747_ChIP-Seq_MESCs_Mouse1.32193973
78BCAT_22108803_ChIP-Seq_LS180_Human1.32007688
79FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.31414977
80PRDM14_20953172_ChIP-Seq_ESCs_Human1.31143827
81SUZ12_27294783_Chip-Seq_NPCs_Mouse1.29833279
82THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.29664177
83BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.28566417
84TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28098847
85EZH2_27294783_Chip-Seq_NPCs_Mouse1.26953300
86RUNX2_22187159_ChIP-Seq_PCA_Human1.26899350
87TCF4_22108803_ChIP-Seq_LS180_Human1.26408836
88NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.25759721
89HIF1A_21447827_ChIP-Seq_MCF-7_Human1.25489657
90SALL1_21062744_ChIP-ChIP_HESCs_Human1.25477993
91CJUN_26792858_Chip-Seq_BT549_Human1.25169241
92EZH2_27304074_Chip-Seq_ESCs_Mouse1.24958200
93SALL4_18804426_ChIP-ChIP_XEN_Mouse1.23496152
94TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.23349732
95OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23082488
96SMAD4_21741376_ChIP-Seq_EPCs_Human1.22758646
97RNF2_27304074_Chip-Seq_ESCs_Mouse1.21989734
98SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21788672
99WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.21013302
100TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.20999401
101NRF2_20460467_ChIP-Seq_MEFs_Mouse1.20479192
102NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.20479192
103TP53_18474530_ChIP-ChIP_U2OS_Human1.20361495
104TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20298153
105TP53_16413492_ChIP-PET_HCT116_Human1.20006191
106EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.19661236
107PPAR_26484153_Chip-Seq_NCI-H1993_Human1.19149033
108NFE2_27457419_Chip-Seq_LIVER_Mouse1.18942283
109FLI1_21867929_ChIP-Seq_TH2_Mouse1.18209960
110IRF1_19129219_ChIP-ChIP_H3396_Human1.17196370
111STAT6_21828071_ChIP-Seq_BEAS2B_Human1.16969341
112BMI1_23680149_ChIP-Seq_NPCS_Mouse1.16670894
113PIAS1_25552417_ChIP-Seq_VCAP_Human1.14962910
114TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14914472
115PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.14715554
116TP53_22573176_ChIP-Seq_HFKS_Human1.13998345
117SOX2_19829295_ChIP-Seq_ESCs_Human1.13488848
118NANOG_19829295_ChIP-Seq_ESCs_Human1.13488848
119KLF5_20875108_ChIP-Seq_MESCs_Mouse1.12517014
120TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.11889570
121ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.11842569
122DROSHA_22980978_ChIP-Seq_HELA_Human1.10966215
123CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.09350516
124NANOG_18555785_Chip-Seq_ESCs_Mouse1.08962356
125SOX2_21211035_ChIP-Seq_LN229_Gbm1.08347858
126CRX_20693478_ChIP-Seq_RETINA_Mouse1.08332524
127* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.07868971
128KDM2B_26808549_Chip-Seq_REH_Human1.07842897
129ETV2_25802403_ChIP-Seq_MESCs_Mouse1.07286972
130CDX2_22108803_ChIP-Seq_LS180_Human1.07179559
131PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.06800764
132EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05651298
133RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.04847470
134TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.04626232
135FOXA1_21572438_ChIP-Seq_LNCaP_Human1.04610475
136* AHR_22903824_ChIP-Seq_MCF-7_Human1.04604832
137RNF2_27304074_Chip-Seq_NSC_Mouse1.04378883
138JUN_21703547_ChIP-Seq_K562_Human1.04300755
139TP53_20018659_ChIP-ChIP_R1E_Mouse1.03986671
140ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.03823040
141FOXA1_25329375_ChIP-Seq_VCAP_Human1.03044732
142FOXA1_27270436_Chip-Seq_PROSTATE_Human1.03044732
143KDM2B_26808549_Chip-Seq_K562_Human1.02888145
144RING1B_27294783_Chip-Seq_ESCs_Mouse1.02783028
145SMAD3_21741376_ChIP-Seq_HESCs_Human1.01920160
146P53_22387025_ChIP-Seq_ESCs_Mouse1.01737698
147ISL1_27105846_Chip-Seq_CPCs_Mouse1.01235245
148GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.99983300
149FOXO3_23340844_ChIP-Seq_DLD1_Human0.99527139
150* TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.98702122
151* ARNT_22903824_ChIP-Seq_MCF-7_Human0.96390790
152RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.93845772
153* SMAD4_21741376_ChIP-Seq_HESCs_Human0.92230600
154SOX2_20726797_ChIP-Seq_SW620_Human0.91459132
155CBX2_27304074_Chip-Seq_ESCs_Mouse0.91405028
156CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.91280562
157CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.90399016
158NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.90049942
159NFIB_24661679_ChIP-Seq_LUNG_Mouse0.89371361
160FOXA2_19822575_ChIP-Seq_HepG2_Human0.88549539
161EZH2_22144423_ChIP-Seq_EOC_Human0.88005385
162CDX2_20551321_ChIP-Seq_CACO-2_Human0.87867378
163NR3C1_23031785_ChIP-Seq_PC12_Mouse0.87304413
164KDM2B_26808549_Chip-Seq_SUP-B15_Human0.84826212
165ZNF263_19887448_ChIP-Seq_K562_Human0.84296525
166* CTCF_27219007_Chip-Seq_Bcells_Human0.84109949
167SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.83473644
168NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.83355519
169SOX9_24532713_ChIP-Seq_HFSC_Mouse0.83025255
170FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.82095922
171GATA1_19941826_ChIP-Seq_K562_Human0.81799867
172GBX2_23144817_ChIP-Seq_PC3_Human0.81541694
173CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.81102448
174RXR_22108803_ChIP-Seq_LS180_Human0.80362202
175IKZF1_21737484_ChIP-ChIP_HCT116_Human0.79472839
176ZNF274_21170338_ChIP-Seq_K562_Hela0.79343564
177VDR_24787735_ChIP-Seq_THP-1_Human0.79136443

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio4.26540265
2MP0003136_yellow_coat_color3.88865466
3MP0000751_myopathy3.83149382
4MP0004036_abnormal_muscle_relaxation3.75996976
5MP0005167_abnormal_blood-brain_barrier3.60851498
6MP0005171_absent_coat_pigmentation3.51308282
7MP0000372_irregular_coat_pigmentation3.49866588
8MP0000569_abnormal_digit_pigmentation3.48234680
9MP0000749_muscle_degeneration3.46636785
10MP0001986_abnormal_taste_sensitivity3.26878443
11MP0004084_abnormal_cardiac_muscle3.22768930
12MP0002837_dystrophic_cardiac_calcinosis3.18117494
13MP0010368_abnormal_lymphatic_system3.02820677
14MP0003646_muscle_fatigue2.96606648
15MP0001958_emphysema2.91444473
16MP0001879_abnormal_lymphatic_vessel2.83657128
17MP0004272_abnormal_basement_membrane2.83574167
18MP0002102_abnormal_ear_morphology2.81707012
19MP0008438_abnormal_cutaneous_collagen2.75076250
20MP0001968_abnormal_touch/_nociception2.70451183
21MP0005551_abnormal_eye_electrophysiolog2.66356447
22MP0005330_cardiomyopathy2.50959466
23MP0001501_abnormal_sleep_pattern2.41415473
24MP0005620_abnormal_muscle_contractility2.41364863
25MP0004215_abnormal_myocardial_fiber2.37467527
26MP0002736_abnormal_nociception_after2.23752417
27MP0004087_abnormal_muscle_fiber2.22729197
28MP0004484_altered_response_of2.19548050
29MP0002106_abnormal_muscle_physiology2.15540769
30MP0005253_abnormal_eye_physiology2.12604699
31MP0005174_abnormal_tail_pigmentation2.11907663
32MP0006072_abnormal_retinal_apoptosis2.05306556
33MP0002735_abnormal_chemical_nociception2.04081490
34MP0003195_calcinosis2.04038112
35MP0005369_muscle_phenotype2.00925480
36MP0000015_abnormal_ear_pigmentation1.95336452
37MP0000747_muscle_weakness1.94849927
38MP0009046_muscle_twitch1.93688124
39MP0009745_abnormal_behavioral_response1.92900333
40MP0002108_abnormal_muscle_morphology1.92272531
41MP0003279_aneurysm1.86741046
42MP0000759_abnormal_skeletal_muscle1.86437565
43MP0005503_abnormal_tendon_morphology1.81408050
44MP0008877_abnormal_DNA_methylation1.81009676
45MP0004043_abnormal_pH_regulation1.77231128
46MP0003011_delayed_dark_adaptation1.76646725
47MP0006138_congestive_heart_failure1.74852388
48MP0006054_spinal_hemorrhage1.70327719
49MP0005670_abnormal_white_adipose1.68716503
50MP0000750_abnormal_muscle_regeneration1.67929212
51MP0002332_abnormal_exercise_endurance1.65416087
52MP0002269_muscular_atrophy1.62591512
53MP0002138_abnormal_hepatobiliary_system1.61726687
54MP0010630_abnormal_cardiac_muscle1.61083626
55MP0003880_abnormal_central_pattern1.60800173
56MP0002972_abnormal_cardiac_muscle1.60622151
57MP0005075_abnormal_melanosome_morpholog1.59757457
58MP0008872_abnormal_physiological_respon1.59140670
59MP0000427_abnormal_hair_cycle1.58622011
60MP0004233_abnormal_muscle_weight1.55154319
61MP0005275_abnormal_skin_tensile1.54148549
62MP0002272_abnormal_nervous_system1.52941397
63MP0004147_increased_porphyrin_level1.52009454
64MP0008995_early_reproductive_senescence1.50676013
65MP0002733_abnormal_thermal_nociception1.50150453
66MP0004885_abnormal_endolymph1.48401239
67MP0002938_white_spotting1.48389051
68MP0005385_cardiovascular_system_phenoty1.47439374
69MP0001544_abnormal_cardiovascular_syste1.47439374
70MP0001970_abnormal_pain_threshold1.45395560
71MP0008775_abnormal_heart_ventricle1.45382384
72MP0000538_abnormal_urinary_bladder1.44736647
73MP0005595_abnormal_vascular_smooth1.42184986
74MP0000767_abnormal_smooth_muscle1.41153803
75MP0002095_abnormal_skin_pigmentation1.40184620
76MP0002876_abnormal_thyroid_physiology1.40087437
77MP0008875_abnormal_xenobiotic_pharmacok1.36888757
78MP0003828_pulmonary_edema1.36519219
79MP0000371_diluted_coat_color1.36049825
80MP0001485_abnormal_pinna_reflex1.35576656
81MP0005646_abnormal_pituitary_gland1.31765458
82MP0004142_abnormal_muscle_tone1.31542059
83MP0003950_abnormal_plasma_membrane1.30990893
84MP0001664_abnormal_digestion1.28969736
85MP0002572_abnormal_emotion/affect_behav1.28749038
86MP0002234_abnormal_pharynx_morphology1.28049101
87MP0000733_abnormal_muscle_development1.27723942
88MP0002557_abnormal_social/conspecific_i1.25897495
89MP0006276_abnormal_autonomic_nervous1.24036178
90MP0001905_abnormal_dopamine_level1.21216866
91MP0001486_abnormal_startle_reflex1.20227628
92MP0004130_abnormal_muscle_cell1.20099782
93MP0004133_heterotaxia1.19485227
94MP0001324_abnormal_eye_pigmentation1.18574281
95MP0002127_abnormal_cardiovascular_syste1.18418723
96MP0002064_seizures1.16698207
97MP0003705_abnormal_hypodermis_morpholog1.16328217
98MP0005248_abnormal_Harderian_gland1.14802559
99MP0002295_abnormal_pulmonary_circulatio1.13118814
100MP0002139_abnormal_hepatobiliary_system1.11326560
101MP0003635_abnormal_synaptic_transmissio1.10777623
102MP0005165_increased_susceptibility_to1.10699213
103MP0006292_abnormal_olfactory_placode1.08824303
104MP0000230_abnormal_systemic_arterial1.08401091
105MP0004085_abnormal_heartbeat1.08371494
106MP0002090_abnormal_vision1.07258337
107MP0005623_abnormal_meninges_morphology1.07184333
108MP0002067_abnormal_sensory_capabilities1.07005129
109MP0009384_cardiac_valve_regurgitation1.05239260
110MP0003787_abnormal_imprinting1.05237487
111MP0004742_abnormal_vestibular_system1.05002710
112MP0005257_abnormal_intraocular_pressure1.04433717
113MP0005386_behavior/neurological_phenoty1.04288422
114MP0004924_abnormal_behavior1.04288422
115MP0004883_abnormal_blood_vessel1.03743842
116MP0002128_abnormal_blood_circulation1.03714153
117MP0003119_abnormal_digestive_system1.03390979
118MP0005645_abnormal_hypothalamus_physiol1.01662945
119MP0002638_abnormal_pupillary_reflex1.01415880
120MP0000537_abnormal_urethra_morphology0.99226456
121MP0001963_abnormal_hearing_physiology0.98531629
122MP0000013_abnormal_adipose_tissue0.98093615
123MP0009278_abnormal_bone_marrow0.98017661
124MP0005410_abnormal_fertilization0.97681967
125MP0000249_abnormal_blood_vessel0.96732327
126MP0005085_abnormal_gallbladder_physiolo0.95436243
127MP0003137_abnormal_impulse_conducting0.95112620
128MP0000631_abnormal_neuroendocrine_gland0.95059026
129MP0000343_altered_response_to0.90670995
130MP0003283_abnormal_digestive_organ0.90190794
131MP0000266_abnormal_heart_morphology0.89754822
132MP0004381_abnormal_hair_follicle0.89426452
133MP0005195_abnormal_posterior_eye0.87841052
134MP0005408_hypopigmentation0.87474939
135MP0002734_abnormal_mechanical_nocicepti0.85745302
136MP0002063_abnormal_learning/memory/cond0.85194825
137MP0005666_abnormal_adipose_tissue0.83834203
138MP0002928_abnormal_bile_duct0.83626002
139MP0005164_abnormal_response_to0.83548198
140MP0005377_hearing/vestibular/ear_phenot0.83532208
141MP0003878_abnormal_ear_physiology0.83532208
142MP0003252_abnormal_bile_duct0.81800925
143MP0005084_abnormal_gallbladder_morpholo0.81495832
144MP0000026_abnormal_inner_ear0.80640985
145MP0002254_reproductive_system_inflammat0.80062649
146MP0004859_abnormal_synaptic_plasticity0.80023723
147MP0010386_abnormal_urinary_bladder0.78944607
148MP0004782_abnormal_surfactant_physiolog0.77961909
149MP0002229_neurodegeneration0.77828543
150MP0002925_abnormal_cardiovascular_devel0.77745555
151MP0003385_abnormal_body_wall0.77545766
152MP0003115_abnormal_respiratory_system0.77423218
153MP0003566_abnormal_cell_adhesion0.76720476
154MP0005423_abnormal_somatic_nervous0.76334769
155MP0002075_abnormal_coat/hair_pigmentati0.76095988
156MP0001614_abnormal_blood_vessel0.76093358
157MP0001984_abnormal_olfaction0.75679658
158MP0002249_abnormal_larynx_morphology0.74507905
159MP0009764_decreased_sensitivity_to0.74150937
160MP0001440_abnormal_grooming_behavior0.73851593
161MP0001348_abnormal_lacrimal_gland0.73617317
162MP0004134_abnormal_chest_morphology0.73598802
163MP0005388_respiratory_system_phenotype0.72951075
164MP0002133_abnormal_respiratory_system0.72951075
165MP0003567_abnormal_fetal_cardiomyocyte0.72373897
166MP0002896_abnormal_bone_mineralization0.71934970
167MP0003045_fibrosis0.69800352
168MP0002282_abnormal_trachea_morphology0.68213842
169MP0003221_abnormal_cardiomyocyte_apopto0.66945665
170MP0000516_abnormal_urinary_system0.66897383
171MP0005367_renal/urinary_system_phenotyp0.66897383
172MP0005360_urolithiasis0.63515511
173MP0005365_abnormal_bile_salt0.63425255
174MP0000534_abnormal_ureter_morphology0.62167388
175MP0009250_abnormal_appendicular_skeleto0.61839258
176MP0008961_abnormal_basal_metabolism0.59984934
177MP0003191_abnormal_cellular_cholesterol0.58201734
178MP0005375_adipose_tissue_phenotype0.58103628

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced muscle cramps (HP:0003710)6.26950225
2Exercise-induced myalgia (HP:0003738)6.22048791
3Muscle fiber inclusion bodies (HP:0100299)5.68180577
4Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.46802192
5Congenital stationary night blindness (HP:0007642)5.26222949
6Muscle hypertrophy of the lower extremities (HP:0008968)5.25163104
7Type 1 muscle fiber predominance (HP:0003803)5.20894502
8Nemaline bodies (HP:0003798)5.05598274
9Calf muscle hypertrophy (HP:0008981)5.01507845
10Distal arthrogryposis (HP:0005684)4.55912473
11Round ear (HP:0100830)4.41590932
12Muscle fiber splitting (HP:0003555)4.40899871
13Hyporeflexia of lower limbs (HP:0002600)4.38105336
14Abnormality of the calf musculature (HP:0001430)4.26281781
15Genetic anticipation (HP:0003743)4.21204225
16Myopathic facies (HP:0002058)4.19175722
17Pancreatic cysts (HP:0001737)4.08413827
18Hypoplasia of the fovea (HP:0007750)4.07579526
19Aplasia/Hypoplasia of the fovea (HP:0008060)4.07579526
20Hyperventilation (HP:0002883)3.92643654
21Abnormality of midbrain morphology (HP:0002418)3.88923947
22Molar tooth sign on MRI (HP:0002419)3.88923947
23Increased corneal curvature (HP:0100692)3.88919771
24Keratoconus (HP:0000563)3.88919771
25Muscle stiffness (HP:0003552)3.86774106
26Attenuation of retinal blood vessels (HP:0007843)3.80975404
27EMG: myopathic abnormalities (HP:0003458)3.75862542
28Increased connective tissue (HP:0009025)3.71003304
29Pancreatic fibrosis (HP:0100732)3.68731859
30Myoglobinuria (HP:0002913)3.68567627
31True hermaphroditism (HP:0010459)3.55434425
32Facial diplegia (HP:0001349)3.54175958
33Gaze-evoked nystagmus (HP:0000640)3.49200961
34Abnormality of the fovea (HP:0000493)3.46615711
35Difficulty running (HP:0009046)3.40864872
36Hyperkalemia (HP:0002153)3.33735007
37Abnormality of skeletal muscle fiber size (HP:0012084)3.33443494
38Progressive cerebellar ataxia (HP:0002073)3.32508537
39Myotonia (HP:0002486)3.31541939
40Sudden death (HP:0001699)3.25172806
41Increased variability in muscle fiber diameter (HP:0003557)3.21200512
42Decreased central vision (HP:0007663)3.19340850
43Abnormality of the renal cortex (HP:0011035)3.18297080
44Ulnar deviation of the wrist (HP:0003049)3.16441344
45Nephronophthisis (HP:0000090)3.15942698
46Broad metatarsal (HP:0001783)3.14578328
47Intestinal atresia (HP:0011100)3.13345654
48Congenital sensorineural hearing impairment (HP:0008527)3.12826870
49Type II lissencephaly (HP:0007260)3.04908907
50Asymmetric septal hypertrophy (HP:0001670)3.02018167
51Right ventricular cardiomyopathy (HP:0011663)2.99877782
52Follicular hyperkeratosis (HP:0007502)2.97007876
53Aortic aneurysm (HP:0004942)2.94834904
54Abnormality of the renal medulla (HP:0100957)2.88507530
55Cystic liver disease (HP:0006706)2.87366179
56Aplasia/Hypoplasia of the macula (HP:0008059)2.85783049
57Abolished electroretinogram (ERG) (HP:0000550)2.83944527
58Tubular atrophy (HP:0000092)2.82458821
59Chronic hepatic failure (HP:0100626)2.77947030
60Protruding tongue (HP:0010808)2.74876967
61Clumsiness (HP:0002312)2.73552794
62Polycythemia (HP:0001901)2.71419949
63Decreased electroretinogram (ERG) amplitude (HP:0000654)2.67998289
64Spinal rigidity (HP:0003306)2.67775995
65Pulmonary artery stenosis (HP:0004415)2.67703693
66Febrile seizures (HP:0002373)2.67127722
67Abnormal rod and cone electroretinograms (HP:0008323)2.66667488
68Ventricular tachycardia (HP:0004756)2.65639430
69Aplasia/Hypoplasia affecting the retina (HP:0008061)2.63587961
70Bony spicule pigmentary retinopathy (HP:0007737)2.59852518
71Polydipsia (HP:0001959)2.57639459
72Abnormal drinking behavior (HP:0030082)2.57639459
73Large for gestational age (HP:0001520)2.56812191
74Decreased circulating renin level (HP:0003351)2.56617706
75Calcaneovalgus deformity (HP:0001848)2.53721288
76Rhabdomyolysis (HP:0003201)2.53633827
77Difficulty climbing stairs (HP:0003551)2.52497589
78Medial flaring of the eyebrow (HP:0010747)2.51845529
79Mesangial abnormality (HP:0001966)2.51097494
80Neck muscle weakness (HP:0000467)2.50750372
81Absent phalangeal crease (HP:0006109)2.47817042
82Hemiparesis (HP:0001269)2.46175567
83Cerebellar dysplasia (HP:0007033)2.45607642
84Premature rupture of membranes (HP:0001788)2.45483431
85Absent speech (HP:0001344)2.44647716
86Facial shape deformation (HP:0011334)2.43511099
87Potter facies (HP:0002009)2.43511099
88Lipoatrophy (HP:0100578)2.43134435
89Blue irides (HP:0000635)2.43099943
90Inability to walk (HP:0002540)2.42759110
91Mildly elevated creatine phosphokinase (HP:0008180)2.40578879
92Aortic dissection (HP:0002647)2.40164949
93Generalized hypopigmentation of hair (HP:0011358)2.38804135
94Stridor (HP:0010307)2.37885648
95Focal seizures (HP:0007359)2.35661518
96Deformed tarsal bones (HP:0008119)2.35567349
97Tarsal synostosis (HP:0008368)2.34618685
98Abnormality of alanine metabolism (HP:0010916)2.34455671
99Hyperalaninemia (HP:0003348)2.34455671
100Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.34455671
101Subaortic stenosis (HP:0001682)2.33830904
102Abnormality of the left ventricular outflow tract (HP:0011103)2.33830904
103Rimmed vacuoles (HP:0003805)2.33616624
104Aplasia/Hypoplasia of the tibia (HP:0005772)2.33237979
105Atrial fibrillation (HP:0005110)2.32115629
106Focal motor seizures (HP:0011153)2.30568515
107Limb-girdle muscle atrophy (HP:0003797)2.28161337
108Sclerocornea (HP:0000647)2.28130507
109Bulbar palsy (HP:0001283)2.27735588
110Deep venous thrombosis (HP:0002625)2.26826042
111Broad-based gait (HP:0002136)2.25410930
112Abnormal finger flexion creases (HP:0006143)2.25300366
113Pendular nystagmus (HP:0012043)2.20596436
114Short hallux (HP:0010109)2.20426575
115Cerebral aneurysm (HP:0004944)2.19676549
116Muscular dystrophy (HP:0003560)2.19314498
117Distal lower limb muscle weakness (HP:0009053)2.19201437
118Esophageal varix (HP:0002040)2.13656142
119Hypoplastic left heart (HP:0004383)2.13082074
120Genital tract atresia (HP:0001827)2.12058963
121Renal cortical cysts (HP:0000803)2.11106726
122Progressive inability to walk (HP:0002505)2.10717370
123Synostosis involving bones of the feet (HP:0009140)2.10529990
124Synostosis involving bones of the lower limbs (HP:0009138)2.10529990
125Primary atrial arrhythmia (HP:0001692)2.09008927
126Chorioretinal atrophy (HP:0000533)2.07907848
127Ocular albinism (HP:0001107)2.07364676
128Vaginal atresia (HP:0000148)2.06843105
129Absent rod-and cone-mediated responses on ERG (HP:0007688)2.05264918
130Aplasia/Hypoplasia of the patella (HP:0006498)2.05105268
131Aplasia/Hypoplasia of the tongue (HP:0010295)2.04561856
132Fair hair (HP:0002286)2.04361176
133Dialeptic seizures (HP:0011146)2.02809294
134Supraventricular arrhythmia (HP:0005115)1.99100714
135Hypothermia (HP:0002045)1.98463571
136Polyuria (HP:0000103)1.97972938
137Prolonged QT interval (HP:0001657)1.96909326
138Albinism (HP:0001022)1.96778750
139Aplasia/Hypoplasia of the hallux (HP:0008362)1.95810676
140Abnormality of macular pigmentation (HP:0008002)1.94379230
141Protrusio acetabuli (HP:0003179)1.94273581
142Hypoplasia of the pons (HP:0012110)1.93568298
143Dilated cardiomyopathy (HP:0001644)1.93210041
144Lissencephaly (HP:0001339)1.93195544
145Frequent falls (HP:0002359)1.93089157
146EMG: neuropathic changes (HP:0003445)1.92482373
147Supraventricular tachycardia (HP:0004755)1.92232039
148Gait imbalance (HP:0002141)1.91239759
149Central scotoma (HP:0000603)1.90800852
150Retinal dysplasia (HP:0007973)1.89798778
151Patellar aplasia (HP:0006443)1.89716171
152Abnormality of the pons (HP:0007361)1.89105503
153Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.89032171
154Gowers sign (HP:0003391)1.88354278
155Iris hypopigmentation (HP:0007730)1.86721264
156Bile duct proliferation (HP:0001408)1.85298656
157Abnormal biliary tract physiology (HP:0012439)1.85298656
158Scapular winging (HP:0003691)1.84723053
159Bulbous nose (HP:0000414)1.84003611
160Congenital primary aphakia (HP:0007707)1.83673592
161Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.83373509
162Bladder diverticulum (HP:0000015)1.81986605
163Stomach cancer (HP:0012126)1.81882927
164Gonadal dysgenesis (HP:0000133)1.81004972
165Congenital hepatic fibrosis (HP:0002612)1.79256951
166Abnormality of binocular vision (HP:0011514)1.78770752
167Diplopia (HP:0000651)1.78770752
168Distal lower limb amyotrophy (HP:0008944)1.77424303
169Congenital, generalized hypertrichosis (HP:0004540)1.76743940
170Paralysis (HP:0003470)1.76371689
171Atonic seizures (HP:0010819)1.76277758
172Widely spaced teeth (HP:0000687)1.75535602
173Severe muscular hypotonia (HP:0006829)1.75252533
174Bundle branch block (HP:0011710)1.73558134
175Furrowed tongue (HP:0000221)1.73452394
176Nephrogenic diabetes insipidus (HP:0009806)1.73152645
177Vascular tortuosity (HP:0004948)1.72933988
178Diastasis recti (HP:0001540)1.71377543
179Palpitations (HP:0001962)1.70801097
180Ankle contracture (HP:0006466)1.70359746
181Macular degeneration (HP:0000608)1.70215828
182Abnormality of the calcaneus (HP:0008364)1.69128871
183Scotoma (HP:0000575)1.69010501
184Thyroiditis (HP:0100646)1.68788955
185Testicular atrophy (HP:0000029)1.68133253
186Hypoalphalipoproteinemia (HP:0003233)1.67552004
187Ventricular arrhythmia (HP:0004308)1.65842472
188Arterial tortuosity (HP:0005116)1.65564149
189Syncope (HP:0001279)1.65162270
190Complement deficiency (HP:0004431)1.64281392
191Stage 5 chronic kidney disease (HP:0003774)1.64096298
192Heart block (HP:0012722)1.63624747
193Ventricular fibrillation (HP:0001663)1.63493507
194Nonprogressive disorder (HP:0003680)1.62824204
195Aneurysm (HP:0002617)1.62351180
196Gout (HP:0001997)1.62012600
197Hematochezia (HP:0002573)1.60652464
198Generalized muscle weakness (HP:0003324)1.60372716

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK7.70570112
2TTN4.75754047
3TIE14.38516497
4ADRBK23.63420623
5OBSCN3.62415420
6PHKG23.31253069
7PHKG13.31253069
8ACVR1B2.88044208
9BMPR1B2.87907440
10KDR2.84475638
11DMPK2.72208999
12MYLK2.67738793
13TGFBR22.57547401
14MAP4K22.29598913
15RIPK12.11837247
16TAOK31.99572060
17ZAK1.96933407
18FER1.96785920
19PDK31.95263892
20PDK41.95263892
21NUAK11.90619772
22DAPK21.89303547
23PTK2B1.89219037
24ADRBK11.88033435
25PDK21.81236852
26WNK31.77927679
27EPHB21.62364297
28TLK11.61856089
29MAPK131.60861350
30TAOK11.59044619
31PIK3CG1.45636049
32TRIB31.45529378
33CASK1.45290736
34OXSR11.41699161
35MAP3K71.41438609
36ERN11.39658419
37GRK11.39172012
38PTK61.38562673
39DDR21.35112886
40PRKD31.34824052
41MAP2K31.34569287
42TXK1.33758132
43STK391.33466117
44NTRK31.32192107
45MAPKAPK31.27521264
46PINK11.17714139
47MUSK1.14898200
48NME11.14396013
49NEK91.13731479
50GRK51.11157661
51WNK11.10878886
52TYRO31.09877982
53TAOK21.09657304
54PLK21.09209114
55LMTK21.09112768
56TGFBR11.08792212
57KIT1.07746921
58PDGFRA1.05394337
59EPHB11.00447260
60BCKDK1.00397194
61CAMKK20.98748151
62MKNK20.98039491
63PKN20.94732165
64MAP3K40.92784233
65PTK20.90608800
66FLT30.89967723
67PRKCG0.88688947
68PRKAA20.88358789
69MAP3K30.87046449
70WNK40.86886332
71PIK3CA0.85479712
72MAP3K110.83325749
73ROCK10.82966734
74MAPK120.81037208
75MARK10.79869501
76MAPK150.79716897
77PAK60.77066007
78GRK70.75352877
79IRAK10.74084851
80PAK40.73388427
81MAP3K10.70570055
82MAPKAPK50.70536293
83PAK20.70394095
84SIK10.69829277
85PRKD10.68720680
86CAMK2A0.68231358
87TEC0.68101204
88PAK30.66387961
89KSR20.66089964
90PRKD20.64659846
91LATS10.64151136
92CAMK1G0.58252577
93MARK30.57313321
94AKT30.56580710
95FGFR40.56471028
96PRKAA10.56098764
97STK30.56074376
98CHUK0.55550262
99ROCK20.55155134
100TNIK0.54777319
101STK240.53919459
102CAMK1D0.52436123
103TRIM280.52111087
104PRKCE0.51773084
105BLK0.51142349
106IKBKB0.50562128
107EPHA40.49781564
108LIMK10.49363159
109MAP2K20.47850865
110CSNK1A1L0.47472196
111PNCK0.47459522
112STK38L0.47423656
113CSNK1G20.47326547
114MAP2K10.46602663
115PRKACB0.46151696
116INSRR0.46048142
117DYRK20.45931961
118PDGFRB0.45854838
119EPHA30.45621907
120MOS0.45225576
121TNK20.44904108
122MAP3K50.43454768
123PRKG20.43202216
124PRKACA0.42559951
125IRAK20.41944052
126ERBB30.41777438
127STK380.41704311
128CDC42BPA0.40799794
129PKN10.40618012
130CAMK10.40333527
131CSK0.40218608
132PRKCH0.40045673
133NLK0.39967544
134PRKCA0.39926600
135CSNK1G10.39852365
136MAP2K60.38828769
137RPS6KA50.38419290
138CSNK1G30.38318690
139AKT20.37168263
140MAP2K40.36963819
141NEK20.36835442
142GSK3A0.36784483
143NEK10.35553801
144ERBB20.35075489
145PRKCQ0.34416204
146ITK0.34245586
147CAMK40.33401812
148LRRK20.33040899
149CDK30.32510896
150BMPR20.32142000
151TRPM70.31952494
152PRKG10.31615455
153SRC0.31165257
154RPS6KA60.31103481
155MKNK10.29663741
156DAPK30.29321845
157CSNK1D0.29087248
158CSNK1A10.28559815
159ERBB40.28477380
160SIK20.28000357

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047443.06144690
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.89375354
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.70359020
4Dilated cardiomyopathy_Homo sapiens_hsa054142.64775805
5Nicotine addiction_Homo sapiens_hsa050332.41791123
6Linoleic acid metabolism_Homo sapiens_hsa005912.37842139
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.31800095
8Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.28796128
9Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.19355469
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.14400615
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.07128013
12Selenocompound metabolism_Homo sapiens_hsa004502.06455652
13Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.00994861
14Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.00968341
15Taste transduction_Homo sapiens_hsa047421.91222936
16ECM-receptor interaction_Homo sapiens_hsa045121.89473637
17Arginine biosynthesis_Homo sapiens_hsa002201.86055487
18Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.83478744
19Complement and coagulation cascades_Homo sapiens_hsa046101.81487051
20Focal adhesion_Homo sapiens_hsa045101.76530632
21Cardiac muscle contraction_Homo sapiens_hsa042601.71157097
22Ether lipid metabolism_Homo sapiens_hsa005651.69219080
23Circadian rhythm_Homo sapiens_hsa047101.68436071
24Nitrogen metabolism_Homo sapiens_hsa009101.62100859
25Starch and sucrose metabolism_Homo sapiens_hsa005001.61096496
26Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.60018927
27Primary bile acid biosynthesis_Homo sapiens_hsa001201.59752085
28Fatty acid degradation_Homo sapiens_hsa000711.58662673
29Adherens junction_Homo sapiens_hsa045201.57861828
30Olfactory transduction_Homo sapiens_hsa047401.54932303
31Maturity onset diabetes of the young_Homo sapiens_hsa049501.52930382
32Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.51413536
33Circadian entrainment_Homo sapiens_hsa047131.48270348
34Vascular smooth muscle contraction_Homo sapiens_hsa042701.47926200
35Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.45453399
36Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.43735614
37Caffeine metabolism_Homo sapiens_hsa002321.42620843
382-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.40424843
39Propanoate metabolism_Homo sapiens_hsa006401.40176792
40Glutamatergic synapse_Homo sapiens_hsa047241.39825090
41Oxytocin signaling pathway_Homo sapiens_hsa049211.30145415
42Steroid hormone biosynthesis_Homo sapiens_hsa001401.27504251
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.25525781
44Serotonergic synapse_Homo sapiens_hsa047261.24814484
45PPAR signaling pathway_Homo sapiens_hsa033201.24780241
46Intestinal immune network for IgA production_Homo sapiens_hsa046721.22127975
47Homologous recombination_Homo sapiens_hsa034401.20015024
48Arginine and proline metabolism_Homo sapiens_hsa003301.19413184
49Glucagon signaling pathway_Homo sapiens_hsa049221.18949048
50Renin secretion_Homo sapiens_hsa049241.18731108
51Arachidonic acid metabolism_Homo sapiens_hsa005901.18284754
52Tight junction_Homo sapiens_hsa045301.16584704
53Bile secretion_Homo sapiens_hsa049761.14101368
54Fatty acid metabolism_Homo sapiens_hsa012121.09348681
55Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.08761628
56Tryptophan metabolism_Homo sapiens_hsa003801.08684487
57Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.07726879
58Dorso-ventral axis formation_Homo sapiens_hsa043201.07135024
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.05040881
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.03598476
61Mineral absorption_Homo sapiens_hsa049781.02751574
62Amoebiasis_Homo sapiens_hsa051461.02474917
63Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.02347657
64Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.01448388
65Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.97986941
66Chemical carcinogenesis_Homo sapiens_hsa052040.96138852
67Insulin resistance_Homo sapiens_hsa049310.95828221
68RNA polymerase_Homo sapiens_hsa030200.94788461
69Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.94436217
70Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.93247564
71Central carbon metabolism in cancer_Homo sapiens_hsa052300.92170730
72Protein export_Homo sapiens_hsa030600.91633477
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.91134606
74Calcium signaling pathway_Homo sapiens_hsa040200.90833370
75Sulfur metabolism_Homo sapiens_hsa009200.89892404
76Carbon metabolism_Homo sapiens_hsa012000.88656624
77Fanconi anemia pathway_Homo sapiens_hsa034600.88043841
78Pyruvate metabolism_Homo sapiens_hsa006200.86104293
79Glycerolipid metabolism_Homo sapiens_hsa005610.85087709
80Leukocyte transendothelial migration_Homo sapiens_hsa046700.84377123
81Cholinergic synapse_Homo sapiens_hsa047250.82748974
82AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.82453356
83HIF-1 signaling pathway_Homo sapiens_hsa040660.81935984
84Proteoglycans in cancer_Homo sapiens_hsa052050.80603968
85Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.79181744
86Cocaine addiction_Homo sapiens_hsa050300.78445404
87Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.78058713
88Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.77629365
89Viral myocarditis_Homo sapiens_hsa054160.77270887
90Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.76856653
91TGF-beta signaling pathway_Homo sapiens_hsa043500.76702606
92Ovarian steroidogenesis_Homo sapiens_hsa049130.75931553
93Cyanoamino acid metabolism_Homo sapiens_hsa004600.75356566
94Retinol metabolism_Homo sapiens_hsa008300.75231312
95Basal transcription factors_Homo sapiens_hsa030220.75154644
96Renal cell carcinoma_Homo sapiens_hsa052110.74715439
97Glycosaminoglycan degradation_Homo sapiens_hsa005310.71221194
98Hedgehog signaling pathway_Homo sapiens_hsa043400.71024381
99Protein digestion and absorption_Homo sapiens_hsa049740.70982436
100Pentose and glucuronate interconversions_Homo sapiens_hsa000400.69344312
101Staphylococcus aureus infection_Homo sapiens_hsa051500.68401600
102Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.67961657
103Long-term depression_Homo sapiens_hsa047300.67490995
104Insulin signaling pathway_Homo sapiens_hsa049100.66468435
105Peroxisome_Homo sapiens_hsa041460.66269922
106Rap1 signaling pathway_Homo sapiens_hsa040150.66109758
107Dopaminergic synapse_Homo sapiens_hsa047280.66097106
108Galactose metabolism_Homo sapiens_hsa000520.65280665
109Gastric acid secretion_Homo sapiens_hsa049710.64918239
110cAMP signaling pathway_Homo sapiens_hsa040240.64035480
111Salivary secretion_Homo sapiens_hsa049700.63622937
112Regulation of autophagy_Homo sapiens_hsa041400.63059394
113Fatty acid elongation_Homo sapiens_hsa000620.61262769
114Aldosterone synthesis and secretion_Homo sapiens_hsa049250.60686411
115AMPK signaling pathway_Homo sapiens_hsa041520.60530153
116Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.60377693
117Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.59878369
118Insulin secretion_Homo sapiens_hsa049110.59795370
119Asthma_Homo sapiens_hsa053100.58681385
120Oxidative phosphorylation_Homo sapiens_hsa001900.56853235
121GnRH signaling pathway_Homo sapiens_hsa049120.55985995
122Histidine metabolism_Homo sapiens_hsa003400.54551909
123Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53181698
124GABAergic synapse_Homo sapiens_hsa047270.53092690
125Butanoate metabolism_Homo sapiens_hsa006500.52532621
126beta-Alanine metabolism_Homo sapiens_hsa004100.52524685
127Regulation of actin cytoskeleton_Homo sapiens_hsa048100.52278644
128VEGF signaling pathway_Homo sapiens_hsa043700.51301148
129Axon guidance_Homo sapiens_hsa043600.50976071
130Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.49761366
131Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.49536133
132Fructose and mannose metabolism_Homo sapiens_hsa000510.48933422
133Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48475765
134Amphetamine addiction_Homo sapiens_hsa050310.48347288
135Estrogen signaling pathway_Homo sapiens_hsa049150.47658852
136Sphingolipid metabolism_Homo sapiens_hsa006000.47438551
137Phenylalanine metabolism_Homo sapiens_hsa003600.47269912
138Purine metabolism_Homo sapiens_hsa002300.46514889
139Bladder cancer_Homo sapiens_hsa052190.46427291
140PI3K-Akt signaling pathway_Homo sapiens_hsa041510.45832023
141Platelet activation_Homo sapiens_hsa046110.45572127
142Fat digestion and absorption_Homo sapiens_hsa049750.45445920
143Basal cell carcinoma_Homo sapiens_hsa052170.45251057
144Morphine addiction_Homo sapiens_hsa050320.44885684
145ABC transporters_Homo sapiens_hsa020100.43338632
146Melanogenesis_Homo sapiens_hsa049160.42997796
147Collecting duct acid secretion_Homo sapiens_hsa049660.42927229
148Ras signaling pathway_Homo sapiens_hsa040140.42170317
149Prion diseases_Homo sapiens_hsa050200.41860556
150Biosynthesis of amino acids_Homo sapiens_hsa012300.41813896
151Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.41389460
152Pancreatic secretion_Homo sapiens_hsa049720.41003106
153Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.40132431
154Lysine degradation_Homo sapiens_hsa003100.39887658
155Metabolic pathways_Homo sapiens_hsa011000.37666964
156Glycerophospholipid metabolism_Homo sapiens_hsa005640.33598257
157Melanoma_Homo sapiens_hsa052180.30665659

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