DIO3

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: The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in pregnant uterus, placenta, fetal and neonatal tissues, and thought to prevent premature exposure of developing fetal tissues to adult levels of thyroid hormones. It regulates circulating fetal thyroid hormone concentrations, and thus plays a critical role in mammalian development. Knockout mice lacking this gene exhibit abnormalities related to development and reproduction, and increased activity of this enzyme in infants with hemangiomas causes severe hypothyroidism. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1aminoglycoside antibiotic metabolic process (GO:0030647)7.11358517
2maintenance of protein location in nucleus (GO:0051457)6.83840744
3regulation of mammary gland epithelial cell proliferation (GO:0033599)6.53948841
4pyrimidine nucleobase catabolic process (GO:0006208)6.48900740
5somite rostral/caudal axis specification (GO:0032525)6.47252150
6negative regulation of epidermis development (GO:0045683)6.46268723
7regulation of response to osmotic stress (GO:0047484)6.24219498
8negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)6.22677655
9protein localization to kinetochore (GO:0034501)5.94927494
10muscle organ morphogenesis (GO:0048644)5.81509361
11negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)5.75035623
12negative regulation of cell cycle G2/M phase transition (GO:1902750)5.55717224
13regulation of nuclear cell cycle DNA replication (GO:0033262)5.52618361
14regulation of telomere maintenance via telomerase (GO:0032210)5.48452883
15negative regulation of telomerase activity (GO:0051974)5.46182335
16histone H4-K5 acetylation (GO:0043981)5.33263973
17histone H4-K8 acetylation (GO:0043982)5.33263973
18regulation of MHC class I biosynthetic process (GO:0045343)5.33139718
19histone H4-K12 acetylation (GO:0043983)5.21445344
20rRNA transcription (GO:0009303)5.19952835
21notochord development (GO:0030903)5.16010804
22heterochromatin organization (GO:0070828)5.04933507
23nucleobase catabolic process (GO:0046113)4.96357437
24bone trabecula formation (GO:0060346)4.93483869
25branching involved in mammary gland duct morphogenesis (GO:0060444)4.80838938
26fat-soluble vitamin catabolic process (GO:0042363)4.80113258
27vitamin catabolic process (GO:0009111)4.80113258
28neuron projection extension involved in neuron projection guidance (GO:1902284)4.78271528
29axon extension involved in axon guidance (GO:0048846)4.78271528
30negative regulation of epidermal cell differentiation (GO:0045605)4.75200440
31mitotic sister chromatid segregation (GO:0000070)4.74530660
32cytidine metabolic process (GO:0046087)4.72850436
33cytidine catabolic process (GO:0006216)4.72850436
34cytidine deamination (GO:0009972)4.72850436
35regulation of cilium movement (GO:0003352)4.55108795
36regulation of apoptotic process involved in morphogenesis (GO:1902337)4.44464851
37axonal fasciculation (GO:0007413)4.44110100
38primitive streak formation (GO:0090009)4.43625756
39cell-cell junction maintenance (GO:0045217)4.42952583
40response to dietary excess (GO:0002021)4.37953022
41neuron recognition (GO:0008038)4.35417087
42coenzyme catabolic process (GO:0009109)4.32548710
43positive regulation of DNA-dependent DNA replication (GO:2000105)4.26215433
44cell proliferation in forebrain (GO:0021846)4.25234053
45regulation of odontogenesis of dentin-containing tooth (GO:0042487)4.24695356
46epoxygenase P450 pathway (GO:0019373)4.24477048
47chromatin assembly (GO:0031497)4.22937619
48epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.21689525
49dendritic spine morphogenesis (GO:0060997)4.19644833
50protein localization to chromosome, centromeric region (GO:0071459)4.18612496
51rRNA methylation (GO:0031167)4.17487116
52nucleoside transmembrane transport (GO:1901642)4.14621722
53DNA replication-dependent nucleosome assembly (GO:0006335)4.07939880
54DNA replication-dependent nucleosome organization (GO:0034723)4.07939880
55maintenance of protein localization in organelle (GO:0072595)4.07329757
56interferon-gamma production (GO:0032609)4.05542517
57behavioral response to nicotine (GO:0035095)4.05010517
58retinal ganglion cell axon guidance (GO:0031290)4.01463923
59postsynaptic membrane organization (GO:0001941)3.97470617
60sister chromatid segregation (GO:0000819)3.94421307
61regulation of translation in response to stress (GO:0043555)3.94091649
62nuclear pore complex assembly (GO:0051292)3.91552313
63quinone metabolic process (GO:1901661)3.91421586
64histone H4-K16 acetylation (GO:0043984)3.89545922
65negative regulation of telomere maintenance (GO:0032205)3.87192095
66cell junction maintenance (GO:0034331)3.84960310
67camera-type eye morphogenesis (GO:0048593)3.83843942
68neuron fate determination (GO:0048664)3.82928883
69rRNA modification (GO:0000154)3.75080553
70regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.73464187
71cell fate commitment involved in formation of primary germ layer (GO:0060795)3.69511402
72negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.68333073
73negative regulation of axon guidance (GO:1902668)3.66982471
74intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)3.65023893
75positive regulation of gastrulation (GO:2000543)3.62349495
76axon ensheathment in central nervous system (GO:0032291)3.61074174
77central nervous system myelination (GO:0022010)3.61074174
78protein insertion into membrane (GO:0051205)3.60362603
79vitamin A metabolic process (GO:0006776)3.59186735
80positive regulation of protein deacetylation (GO:0090312)3.58826119
81omega-hydroxylase P450 pathway (GO:0097267)3.58652670
82cell migration in hindbrain (GO:0021535)3.57243106
83intestinal epithelial cell development (GO:0060576)3.54439981
84retinoic acid receptor signaling pathway (GO:0048384)3.54374362
85cardiovascular system development (GO:0072358)3.52614193
86DNA replication checkpoint (GO:0000076)3.50715356
87regulation of telomerase activity (GO:0051972)3.49091316
88intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)3.47551781
89head development (GO:0060322)3.47125033
90lateral sprouting from an epithelium (GO:0060601)3.46043125
91neuronal stem cell maintenance (GO:0097150)3.45773914
92mitochondrion distribution (GO:0048311)3.45745929
93proline transport (GO:0015824)3.44101352
94negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.42995817
95spinal cord development (GO:0021510)3.40211441
96arachidonic acid secretion (GO:0050482)3.39527104
97icosanoid secretion (GO:0032309)3.39527104
98maternal placenta development (GO:0001893)3.37237524
99cullin deneddylation (GO:0010388)3.37139031
100regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.35101417
101regulation of intracellular estrogen receptor signaling pathway (GO:0033146)3.34346367
102spinal cord association neuron differentiation (GO:0021527)3.33543943
103establishment of nucleus localization (GO:0040023)3.31778643
104nuclear pore organization (GO:0006999)3.31308306
105axon extension (GO:0048675)3.31073460
106cerebral cortex radially oriented cell migration (GO:0021799)3.29595207
107pyrimidine ribonucleoside catabolic process (GO:0046133)3.29479927
108microtubule severing (GO:0051013)3.29361871
109negative regulation of axon extension involved in axon guidance (GO:0048843)3.29283393
110convergent extension (GO:0060026)3.29207863
111positive regulation of odontogenesis (GO:0042482)3.28855972
112regulation of mesoderm development (GO:2000380)3.21554135
113transcription from mitochondrial promoter (GO:0006390)3.19144852
114regulation of telomere maintenance (GO:0032204)3.18640581
115anterior/posterior axis specification (GO:0009948)3.17725817
116GDP-mannose metabolic process (GO:0019673)3.17224699
117mRNA stabilization (GO:0048255)3.16796493
118RNA stabilization (GO:0043489)3.16796493
119pre-miRNA processing (GO:0031054)3.16707801
120presynaptic membrane assembly (GO:0097105)3.16659418
121phagocytosis, recognition (GO:0006910)3.16260745
122positive regulation of histone deacetylation (GO:0031065)3.15689429
123tachykinin receptor signaling pathway (GO:0007217)3.14908114
124trophectodermal cell differentiation (GO:0001829)3.14187446
125somite development (GO:0061053)3.13390698
126nucleoside transport (GO:0015858)3.13329634
127protein polyglutamylation (GO:0018095)3.09601775
128hypotonic response (GO:0006971)3.08485092
129kidney morphogenesis (GO:0060993)3.08470827
130cell migration involved in gastrulation (GO:0042074)3.08092404
131regulation of glucose import in response to insulin stimulus (GO:2001273)3.07722987
132presynaptic membrane organization (GO:0097090)3.07011570
133transmission of nerve impulse (GO:0019226)3.05306142
134regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.05171326
135nonmotile primary cilium assembly (GO:0035058)3.05059130
136apoptotic DNA fragmentation (GO:0006309)3.03881725
137regulation of gene silencing by RNA (GO:0060966)3.03651020
138regulation of posttranscriptional gene silencing (GO:0060147)3.03651020
139regulation of gene silencing by miRNA (GO:0060964)3.03651020
140negative regulation of interleukin-2 production (GO:0032703)3.03389199
141branching involved in labyrinthine layer morphogenesis (GO:0060670)3.01132036
142establishment of mitochondrion localization (GO:0051654)2.96461617
143short-term memory (GO:0007614)2.95822123
144viral transcription (GO:0019083)2.93400611
145membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.91882303
146calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.91848415
147epithelial cilium movement (GO:0003351)2.91834535
148neuron cell-cell adhesion (GO:0007158)2.88884294
149lens morphogenesis in camera-type eye (GO:0002089)2.87964325
150auditory receptor cell differentiation (GO:0042491)2.87921672
151dorsal/ventral neural tube patterning (GO:0021904)2.87051389
152regulation of axon guidance (GO:1902667)2.85313847
153positive regulation of synapse assembly (GO:0051965)2.84501531
154protein localization to synapse (GO:0035418)2.83572130
155translational termination (GO:0006415)2.82449250
156regulation of feeding behavior (GO:0060259)2.79394157
157adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.78146548
158synapse assembly (GO:0007416)2.74077303
159ephrin receptor signaling pathway (GO:0048013)2.74041574
160regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.73571339
161collecting duct development (GO:0072044)2.73529088
162neuron projection extension (GO:1990138)2.72582234
163negative regulation of cell fate commitment (GO:0010454)2.70919498
164apical protein localization (GO:0045176)2.70870382
165positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.69827928
166olfactory bulb development (GO:0021772)2.69637812
167planar cell polarity pathway involved in neural tube closure (GO:0090179)2.68226376
168neuron remodeling (GO:0016322)2.67729502
169regulation of non-canonical Wnt signaling pathway (GO:2000050)2.66888866
170forebrain neuron differentiation (GO:0021879)2.66702774
171telencephalon development (GO:0021537)2.66548022
172negative regulation of cell fate specification (GO:0009996)2.65536952
173vocalization behavior (GO:0071625)2.65421819
174endoderm formation (GO:0001706)2.62952613
175G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.62266940
176mitochondrion transport along microtubule (GO:0047497)2.59469171
177establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.59469171
178synaptic transmission, cholinergic (GO:0007271)2.58973799
179positive regulation of urine volume (GO:0035810)2.55950118
180sequestering of actin monomers (GO:0042989)2.55588599
181layer formation in cerebral cortex (GO:0021819)2.55264075
182inner ear receptor cell differentiation (GO:0060113)2.53532558
183neuronal ion channel clustering (GO:0045161)2.52023672
184regulation of axon extension involved in axon guidance (GO:0048841)2.51805250
185establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.51002305
186Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.50081052
187establishment of protein localization to mitochondrial membrane (GO:0090151)2.49092860
188retina layer formation (GO:0010842)2.48722944
189neuron migration (GO:0001764)2.48367961
190regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.48293812
191specification of organ identity (GO:0010092)2.47318628
192dorsal/ventral pattern formation (GO:0009953)2.47044405
193central nervous system projection neuron axonogenesis (GO:0021952)2.43883840
194ganglion development (GO:0061548)2.42880375
195establishment of tissue polarity (GO:0007164)2.42569680
196establishment of planar polarity (GO:0001736)2.42569680
197polyketide metabolic process (GO:0030638)11.0424213
198doxorubicin metabolic process (GO:0044598)11.0424213
199daunorubicin metabolic process (GO:0044597)11.0424213

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KLF2_18264089_ChIP-ChIP_MESCs_Mouse6.81389835
2KLF5_18264089_ChIP-ChIP_MESCs_Mouse6.81389835
3KLF4_18264089_ChIP-ChIP_MESCs_Mouse6.81389835
4BP1_19119308_ChIP-ChIP_Hs578T_Human6.46512065
5EZH2_22144423_ChIP-Seq_EOC_Human5.81785646
6NR4A2_19515692_ChIP-ChIP_MN9D_Mouse4.21086888
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.83255750
8NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.30144342
9TP63_19390658_ChIP-ChIP_HaCaT_Human3.28478854
10E2F7_22180533_ChIP-Seq_HELA_Human3.25310834
11SOX2_18358816_ChIP-ChIP_MESCs_Mouse3.05572389
12POU5F1_18700969_ChIP-ChIP_MESCs_Mouse3.04940709
13SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.82983320
14SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.81022716
15* EZH2_27304074_Chip-Seq_ESCs_Mouse2.79770383
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.78510383
17NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.78496009
18TCF3_18692474_ChIP-Seq_MESCs_Mouse2.65654960
19TCF3_18692474_ChIP-Seq_MEFs_Mouse2.64472294
20* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.54464710
21* EED_16625203_ChIP-ChIP_MESCs_Mouse2.41217464
22* EZH2_27294783_Chip-Seq_ESCs_Mouse2.36513163
23* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.33809051
24* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.31575353
25* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.26304978
26* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.26304978
27ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.26189241
28CBX2_27304074_Chip-Seq_ESCs_Mouse2.19789640
29* RNF2_27304074_Chip-Seq_ESCs_Mouse2.17277876
30RBPJ_22232070_ChIP-Seq_NCS_Mouse2.12575938
31NANOG_18347094_ChIP-ChIP_MESCs_Mouse2.11176129
32* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.07653303
33TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.06790281
34SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.05973351
35HIF1A_21447827_ChIP-Seq_MCF-7_Human2.04387815
36* PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.02147301
37* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.00204526
38* NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.94544078
39CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.94513725
40KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.92813512
41SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.92674090
42NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.92471187
43ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.92005300
44STAT3_1855785_ChIP-Seq_MESCs_Mouse1.91321508
45REST_21632747_ChIP-Seq_MESCs_Mouse1.90886962
46* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.90085382
47RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.90059001
48RNF2_27304074_Chip-Seq_NSC_Mouse1.87125133
49BMI1_23680149_ChIP-Seq_NPCS_Mouse1.83536215
50* ERG_21242973_ChIP-ChIP_JURKAT_Human1.83142222
51E2F4_17652178_ChIP-ChIP_JURKAT_Human1.82740030
52* RING1B_27294783_Chip-Seq_ESCs_Mouse1.81087098
53REST_18959480_ChIP-ChIP_MESCs_Mouse1.79920003
54POU5F1_16518401_ChIP-PET_MESCs_Mouse1.77255915
55* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.75941212
56TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.74668988
57* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.74580972
58RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.72764638
59ZFP281_18757296_ChIP-ChIP_E14_Mouse1.67123628
60SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.65323686
61CTCF_27219007_Chip-Seq_Bcells_Human1.62852782
62POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.62627491
63IRF1_19129219_ChIP-ChIP_H3396_Human1.58680164
64OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.54822951
65HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.49747334
66FOXM1_23109430_ChIP-Seq_U2OS_Human1.48865016
67NANOG_18692474_ChIP-Seq_MESCs_Mouse1.48350776
68* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.47894212
69NANOG_18692474_ChIP-Seq_MEFs_Mouse1.47877415
70CDX2_20551321_ChIP-Seq_CACO-2_Human1.46343189
71GATA1_26923725_Chip-Seq_HPCs_Mouse1.46054515
72EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.45750462
73PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.44992832
74* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.39725984
75NANOG_18555785_ChIP-Seq_MESCs_Mouse1.39359652
76POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.36556868
77OCT4_18692474_ChIP-Seq_MEFs_Mouse1.32471144
78SOX2_18555785_ChIP-Seq_MESCs_Mouse1.28619847
79E2F1_17053090_ChIP-ChIP_MCF-7_Human1.28218563
80FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.27225260
81SOX2_18692474_ChIP-Seq_MESCs_Mouse1.24237375
82TP53_22127205_ChIP-Seq_IMR90_Human1.24184960
83NANOG_16518401_ChIP-PET_MESCs_Mouse1.23726579
84MYC_19079543_ChIP-ChIP_MESCs_Mouse1.19114869
85SOX2_18692474_ChIP-Seq_MEFs_Mouse1.17599642
86GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.16324781
87NANOG_16153702_ChIP-ChIP_HESCs_Human1.16287368
88MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.14568545
89MYC_22102868_ChIP-Seq_BL_Human1.13033293
90TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12123253
91P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11771598
92MYC_18555785_ChIP-Seq_MESCs_Mouse1.11000410
93MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.09600514
94WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.09558378
95ISL1_27105846_Chip-Seq_CPCs_Mouse1.08885474
96DROSHA_22980978_ChIP-Seq_HELA_Human1.08110286
97SMAD4_21741376_ChIP-Seq_HESCs_Human1.07894053
98SMAD3_21741376_ChIP-Seq_ESCs_Human1.06687026
99KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06642245
100* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.05960471
101TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.05098390
102YY1_21170310_ChIP-Seq_MESCs_Mouse1.04831057
103ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03862317
104CTBP1_25329375_ChIP-Seq_LNCAP_Human1.03176880
105CTBP2_25329375_ChIP-Seq_LNCAP_Human1.03011916
106NCOR1_26117541_ChIP-Seq_K562_Human1.02343515
107* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02011778
108ELK3_25401928_ChIP-Seq_HUVEC_Human1.00412451
109POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.99714264
110SOX3_22085726_ChIP-Seq_NPCs_Mouse0.99519795
111POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.99518487
112POU5F1_16153702_ChIP-ChIP_HESCs_Human0.99463041
113* MYC_19030024_ChIP-ChIP_MESCs_Mouse0.99343303
114RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.99230311
115CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.99224521
116SMAD3_21741376_ChIP-Seq_HESCs_Human0.98282916
117NANOG_21062744_ChIP-ChIP_HESCs_Human0.98018877
118MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.95502212
119PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.94369992
120VDR_22108803_ChIP-Seq_LS180_Human0.94281448
121EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.94227629
122TBX3_20139965_ChIP-Seq_ESCs_Mouse0.92629802
123TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.92472831
124NOTCH1_21737748_ChIP-Seq_TLL_Human0.91786003
125TBX3_20139965_ChIP-Seq_MESCs_Mouse0.91465931
126ZFP57_27257070_Chip-Seq_ESCs_Mouse0.90834772
127KDM2B_26808549_Chip-Seq_K562_Human0.89665633
128RACK7_27058665_Chip-Seq_MCF-7_Human0.89555791
129POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.88487477
130TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88487477
131SMC4_20622854_ChIP-Seq_HELA_Human0.87969664
132TCF7_22412390_ChIP-Seq_EML_Mouse0.87951456
133RUNX1_26923725_Chip-Seq_HPCs_Mouse0.87857149
134ESR2_21235772_ChIP-Seq_MCF-7_Human0.87660762
135* TP53_20018659_ChIP-ChIP_R1E_Mouse0.86756794
136ELK4_26923725_Chip-Seq_MESODERM_Mouse0.86711396
137GBX2_23144817_ChIP-Seq_PC3_Human0.86617054
138IGF1R_20145208_ChIP-Seq_DFB_Human0.86281265
139CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.84625102
140TOP2B_26459242_ChIP-Seq_MCF-7_Human0.84379937
141FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.84139335
142DNAJC2_21179169_ChIP-ChIP_NT2_Human0.83780778
143EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.83458188
144FOXO3_23340844_ChIP-Seq_DLD1_Human0.83124873
145EOMES_21245162_ChIP-Seq_HESCs_Human0.82994556
146SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.81907203
147LXR_22292898_ChIP-Seq_THP-1_Human0.81774046
148WT1_25993318_ChIP-Seq_PODOCYTE_Human0.80709289
149NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.80424368
150* AR_19668381_ChIP-Seq_PC3_Human0.79725774
151WT1_19549856_ChIP-ChIP_CCG9911_Human0.77339625
152MYC_18358816_ChIP-ChIP_MESCs_Mouse0.77309563
153IKZF1_21737484_ChIP-ChIP_HCT116_Human0.76998499
154* RING1B_27294783_Chip-Seq_NPCs_Mouse0.76570209
155SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.75869871
156CTCF_21964334_Chip-Seq_Bcells_Human0.75008729
157KAP1_27257070_Chip-Seq_ESCs_Mouse0.74648903
158TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.74404477
159KLF4_18555785_ChIP-Seq_MESCs_Mouse0.74256100
160* KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.73935972
161TRIM28_21343339_ChIP-Seq_HEK293_Human0.72355813
162HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.72178376
163KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.71773898
164KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.71534292
165STAT3_18555785_ChIP-Seq_MESCs_Mouse0.70567359
166YY1_22570637_ChIP-Seq_MALME-3M_Human0.70272550
167PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.68636304
168RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.68114783
169SOX2_16153702_ChIP-ChIP_HESCs_Human0.67494907

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002254_reproductive_system_inflammat4.38655338
2* MP0003122_maternal_imprinting4.27795518
3MP0003011_delayed_dark_adaptation4.23823827
4MP0004264_abnormal_extraembryonic_tissu4.08238021
5MP0003705_abnormal_hypodermis_morpholog4.03873029
6MP0006292_abnormal_olfactory_placode3.82698961
7MP0004858_abnormal_nervous_system3.46113126
8MP0005257_abnormal_intraocular_pressure3.42589580
9MP0003890_abnormal_embryonic-extraembry3.21626537
10MP0005499_abnormal_olfactory_system3.19085937
11MP0005394_taste/olfaction_phenotype3.19085937
12MP0000778_abnormal_nervous_system3.10214849
13MP0008438_abnormal_cutaneous_collagen2.87746724
14MP0003787_abnormal_imprinting2.57791493
15MP0005075_abnormal_melanosome_morpholog2.53188417
16MP0002332_abnormal_exercise_endurance2.53050201
17MP0002653_abnormal_ependyma_morphology2.49950764
18MP0010352_gastrointestinal_tract_polyps2.45152145
19MP0008057_abnormal_DNA_replication2.36042548
20MP0004859_abnormal_synaptic_plasticity2.30637278
21MP0010030_abnormal_orbit_morphology2.25390674
22MP0005423_abnormal_somatic_nervous2.16364909
23MP0004957_abnormal_blastocyst_morpholog2.16057258
24MP0009379_abnormal_foot_pigmentation2.15192750
25MP0003136_yellow_coat_color2.12117062
26MP0006276_abnormal_autonomic_nervous2.00564280
27MP0005377_hearing/vestibular/ear_phenot1.99647343
28MP0003878_abnormal_ear_physiology1.99647343
29MP0000678_abnormal_parathyroid_gland1.97398535
30MP0001984_abnormal_olfaction1.87309650
31MP0002932_abnormal_joint_morphology1.84109001
32MP0006035_abnormal_mitochondrial_morpho1.83596611
33MP0003938_abnormal_ear_development1.81869950
34MP0003880_abnormal_central_pattern1.80911343
35MP0008961_abnormal_basal_metabolism1.75562555
36MP0005275_abnormal_skin_tensile1.73320365
37MP0000566_synostosis1.70860307
38MP0001672_abnormal_embryogenesis/_devel1.68882388
39MP0005380_embryogenesis_phenotype1.68882388
40MP0005508_abnormal_skeleton_morphology1.62452073
41MP0002088_abnormal_embryonic_growth/wei1.60149174
42MP0002277_abnormal_respiratory_mucosa1.58663262
43MP0003984_embryonic_growth_retardation1.56955850
44MP0001849_ear_inflammation1.54448450
45MP0000049_abnormal_middle_ear1.53507305
46MP0003283_abnormal_digestive_organ1.49662604
47MP0000762_abnormal_tongue_morphology1.49403270
48MP0000955_abnormal_spinal_cord1.45307511
49MP0002233_abnormal_nose_morphology1.44474493
50MP0002938_white_spotting1.44411056
51MP0001293_anophthalmia1.44107698
52MP0003123_paternal_imprinting1.44086422
53MP0003279_aneurysm1.42623611
54MP0002092_abnormal_eye_morphology1.40796190
55MP0002127_abnormal_cardiovascular_syste1.40549631
56MP0003861_abnormal_nervous_system1.40489801
57MP0000537_abnormal_urethra_morphology1.40006638
58MP0001348_abnormal_lacrimal_gland1.39902156
59MP0003646_muscle_fatigue1.35269491
60MP0003635_abnormal_synaptic_transmissio1.34267746
61MP0000428_abnormal_craniofacial_morphol1.34057941
62MP0001485_abnormal_pinna_reflex1.32663920
63MP0000350_abnormal_cell_proliferation1.32483019
64MP0005503_abnormal_tendon_morphology1.29695486
65MP0006082_CNS_inflammation1.29477819
66MP0003183_abnormal_peptide_metabolism1.28287892
67MP0002114_abnormal_axial_skeleton1.27837513
68MP0003755_abnormal_palate_morphology1.26692202
69MP0002152_abnormal_brain_morphology1.26048651
70MP0002086_abnormal_extraembryonic_tissu1.25998490
71MP0002557_abnormal_social/conspecific_i1.25703533
72MP0002734_abnormal_mechanical_nocicepti1.25229672
73MP0002085_abnormal_embryonic_tissue1.23918307
74MP0000631_abnormal_neuroendocrine_gland1.22349078
75MP0003385_abnormal_body_wall1.22011254
76MP0008789_abnormal_olfactory_epithelium1.21432158
77MP0002697_abnormal_eye_size1.20123023
78MP0001529_abnormal_vocalization1.19194528
79MP0000432_abnormal_head_morphology1.19156586
80MP0005023_abnormal_wound_healing1.18959458
81MP0000026_abnormal_inner_ear1.18347339
82MP0005623_abnormal_meninges_morphology1.18231836
83MP0003935_abnormal_craniofacial_develop1.17383572
84MP0004272_abnormal_basement_membrane1.17294964
85MP0002752_abnormal_somatic_nervous1.17162539
86MP0002184_abnormal_innervation1.16731823
87MP0002736_abnormal_nociception_after1.16527651
88MP0000534_abnormal_ureter_morphology1.16140505
89MP0002063_abnormal_learning/memory/cond1.13300302
90MP0002882_abnormal_neuron_morphology1.12868813
91MP0004133_heterotaxia1.09966653
92MP0005266_abnormal_metabolism1.08110425
93MP0002102_abnormal_ear_morphology1.07880805
94MP0001968_abnormal_touch/_nociception1.07601432
95MP0002163_abnormal_gland_morphology1.06601388
96MP0002084_abnormal_developmental_patter1.06215240
97MP0004142_abnormal_muscle_tone1.05638117
98MP0003119_abnormal_digestive_system1.03940094
99MP0005248_abnormal_Harderian_gland1.03553242
100MP0004885_abnormal_endolymph1.03061464
101MP0005084_abnormal_gallbladder_morpholo1.00270121
102MP0001440_abnormal_grooming_behavior0.99088769
103MP0002572_abnormal_emotion/affect_behav0.99063725
104MP0002396_abnormal_hematopoietic_system0.98769568
105MP0002116_abnormal_craniofacial_bone0.98572449
106MP0002234_abnormal_pharynx_morphology0.97136036
107MP0004197_abnormal_fetal_growth/weight/0.95824890
108MP0005083_abnormal_biliary_tract0.95767843
109MP0005195_abnormal_posterior_eye0.95288321
110MP0004811_abnormal_neuron_physiology0.95266458
111MP0009250_abnormal_appendicular_skeleto0.94978569
112MP0002970_abnormal_white_adipose0.93802518
113MP0008770_decreased_survivor_rate0.93723721
114MP0003567_abnormal_fetal_cardiomyocyte0.92324386
115MP0006072_abnormal_retinal_apoptosis0.92137648
116MP0002925_abnormal_cardiovascular_devel0.90758927
117MP0002249_abnormal_larynx_morphology0.90434416
118MP0001299_abnormal_eye_distance/0.89892771
119MP0003315_abnormal_perineum_morphology0.89011995
120MP0001970_abnormal_pain_threshold0.87986126
121MP0001243_abnormal_dermal_layer0.87484120
122MP0001486_abnormal_startle_reflex0.87212039
123MP0009053_abnormal_anal_canal0.87104482
124MP0004742_abnormal_vestibular_system0.87013250
125MP0001963_abnormal_hearing_physiology0.86346207
126MP0002837_dystrophic_cardiac_calcinosis0.86051573
127MP0004270_analgesia0.85469959
128MP0002272_abnormal_nervous_system0.84232283
129MP0003077_abnormal_cell_cycle0.82898292
130MP0008877_abnormal_DNA_methylation0.82529406
131MP0003937_abnormal_limbs/digits/tail_de0.82217300
132MP0003566_abnormal_cell_adhesion0.81889856
133MP0000462_abnormal_digestive_system0.81441693
134MP0000579_abnormal_nail_morphology0.81378654
135MP0003137_abnormal_impulse_conducting0.81356349
136MP0002733_abnormal_thermal_nociception0.81252422
137MP0002108_abnormal_muscle_morphology0.81150393
138MP0000163_abnormal_cartilage_morphology0.80328698
139MP0004145_abnormal_muscle_electrophysio0.80112598
140MP0004043_abnormal_pH_regulation0.79795973
141MP0002067_abnormal_sensory_capabilities0.78627096
142MP0000750_abnormal_muscle_regeneration0.78383032
143MP0002928_abnormal_bile_duct0.77487488
144MP0005391_vision/eye_phenotype0.77341938
145MP0009384_cardiac_valve_regurgitation0.75646628
146MP0001697_abnormal_embryo_size0.75401007
147MP0002111_abnormal_tail_morphology0.75103918
148MP0002822_catalepsy0.74596691
149MP0002735_abnormal_chemical_nociception0.72848930
150MP0003879_abnormal_hair_cell0.72029137
151MP0009703_decreased_birth_body0.71988133
152MP0001730_embryonic_growth_arrest0.71440173
153MP0002080_prenatal_lethality0.69049899
154MP0002109_abnormal_limb_morphology0.66746404
155MP0009745_abnormal_behavioral_response0.65745230
156MP0005197_abnormal_uvea_morphology0.65534210
157MP0004883_abnormal_blood_vessel0.65482890
158MP0004381_abnormal_hair_follicle0.65069501
159MP0000313_abnormal_cell_death0.63094770
160MP0002877_abnormal_melanocyte_morpholog0.62883172
161MP0002269_muscular_atrophy0.61715618
162* MP0002081_perinatal_lethality0.60701081
163MP0008932_abnormal_embryonic_tissue0.60624316
164* MP0003121_genomic_imprinting0.60140991
165MP0003942_abnormal_urinary_system0.58676485
166MP0001286_abnormal_eye_development0.58517895
167MP0000490_abnormal_crypts_of0.58360944
168MP0002751_abnormal_autonomic_nervous0.57865497
169MP0003448_altered_tumor_morphology0.57463611

Predicted human phenotypes

RankGene SetZ-score
1Bilateral microphthalmos (HP:0007633)7.14117525
2Hypochromic microcytic anemia (HP:0004840)5.73840862
3Hepatoblastoma (HP:0002884)5.40704221
4Multiple enchondromatosis (HP:0005701)4.87629443
5Abnormality of the lower motor neuron (HP:0002366)4.73881574
6Rib fusion (HP:0000902)4.54629602
7Ependymoma (HP:0002888)3.79212766
8Peritonitis (HP:0002586)3.64392641
9Fused cervical vertebrae (HP:0002949)3.45801766
10Nephroblastoma (Wilms tumor) (HP:0002667)3.40296308
11Septo-optic dysplasia (HP:0100842)3.38870767
12Neoplasm of striated muscle (HP:0009728)3.34323190
13Protrusio acetabuli (HP:0003179)3.31308380
14Premature rupture of membranes (HP:0001788)3.28227489
15Oligodactyly (hands) (HP:0001180)3.22373883
16Embryonal renal neoplasm (HP:0011794)3.20100017
17Partial duplication of thumb phalanx (HP:0009944)3.14708256
18Testicular atrophy (HP:0000029)3.12174976
19Myokymia (HP:0002411)3.08656235
20Rectovaginal fistula (HP:0000143)3.07707235
21Rectal fistula (HP:0100590)3.07707235
22Rhabdomyosarcoma (HP:0002859)3.05892701
23Trismus (HP:0000211)3.00579414
24Hypoplasia of the fovea (HP:0007750)2.99913410
25Aplasia/Hypoplasia of the fovea (HP:0008060)2.99913410
26Bifid tongue (HP:0010297)2.96661880
27Short humerus (HP:0005792)2.94554183
28Aplasia/hypoplasia of the humerus (HP:0006507)2.90993845
29Partial duplication of the phalanx of hand (HP:0009999)2.89433483
30Astrocytoma (HP:0009592)2.89423238
31Abnormality of the astrocytes (HP:0100707)2.89423238
32Abnormality of the aortic arch (HP:0012303)2.86833238
33Chromosomal breakage induced by crosslinking agents (HP:0003221)2.85542222
34Abnormal cartilage morphology (HP:0002763)2.83426373
35Amyotrophic lateral sclerosis (HP:0007354)2.81558085
36Oligodactyly (HP:0012165)2.79809366
37Polyphagia (HP:0002591)2.76161027
38Anophthalmia (HP:0000528)2.74785000
39Overriding aorta (HP:0002623)2.73361794
40Abnormality of the salivary glands (HP:0010286)2.71242146
41Intestinal fistula (HP:0100819)2.70981452
42Abnormality of the phalanges of the hallux (HP:0010057)2.70039940
43Increased connective tissue (HP:0009025)2.68181747
44Anomalous pulmonary venous return (HP:0010772)2.67624485
45Reticulocytopenia (HP:0001896)2.67180876
46Hyperinsulinemic hypoglycemia (HP:0000825)2.64777679
47High anterior hairline (HP:0009890)2.64677550
48Vaginal fistula (HP:0004320)2.64257034
49Ragged-red muscle fibers (HP:0003200)2.63618823
50Large earlobe (HP:0009748)2.62680558
51Elfin facies (HP:0004428)2.62618952
52Short 5th finger (HP:0009237)2.58439129
53Hand muscle atrophy (HP:0009130)2.56470540
54Horizontal nystagmus (HP:0000666)2.55341157
55Abnormality of the distal phalanx of the thumb (HP:0009617)2.50187346
56Renovascular hypertension (HP:0100817)2.48497121
57Stenosis of the external auditory canal (HP:0000402)2.47950473
58Preauricular skin tag (HP:0000384)2.47679393
59Short 4th metacarpal (HP:0010044)2.47524319
60Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.47524319
61Generalized hypotonia (HP:0001290)2.45905367
62Absent septum pellucidum (HP:0001331)2.43601368
63Abnormal lung lobation (HP:0002101)2.42694422
64Preauricular pit (HP:0004467)2.40556219
65Periauricular skin pits (HP:0100277)2.40556219
66Myelomeningocele (HP:0002475)2.40423941
67Pancreatic fibrosis (HP:0100732)2.40389983
68Vitreoretinal degeneration (HP:0000655)2.39885328
69Abnormality of the phalanges of the 5th finger (HP:0004213)2.39583090
70Neoplasm of the heart (HP:0100544)2.39058917
71Aplasia/Hypoplasia of the 5th finger (HP:0006262)2.37758389
72Abnormality of the 4th metacarpal (HP:0010012)2.35391168
73Abnormality of the musculature of the hand (HP:0001421)2.34232572
74Chromsome breakage (HP:0040012)2.34029201
75Shawl scrotum (HP:0000049)2.33594635
76Aplasia/Hypoplasia of the spleen (HP:0010451)2.28768779
77Sensory axonal neuropathy (HP:0003390)2.26677527
78Abnormality of the pulmonary veins (HP:0011718)2.26234275
79Abnormality of the diencephalon (HP:0010662)2.25689061
80Abnormality of the pubic bones (HP:0003172)2.24518078
81Mildly elevated creatine phosphokinase (HP:0008180)2.24070917
82Gait imbalance (HP:0002141)2.24021624
83Renal duplication (HP:0000075)2.23812281
84Abnormality of the fovea (HP:0000493)2.22897801
85Aplasia/Hypoplasia of the brainstem (HP:0007362)2.21567330
86Hypoplasia of the brainstem (HP:0002365)2.21567330
87Achilles tendon contracture (HP:0001771)2.21165338
88Diastasis recti (HP:0001540)2.21148209
89Reduced antithrombin III activity (HP:0001976)2.20293250
90Skin tags (HP:0010609)2.19788088
91Hypochromic anemia (HP:0001931)2.19711443
92Distal upper limb amyotrophy (HP:0007149)2.18341797
93Upper limb amyotrophy (HP:0009129)2.18341797
94Asplenia (HP:0001746)2.18126064
95Abnormality of the labia minora (HP:0012880)2.17251438
96Nasolacrimal duct obstruction (HP:0000579)2.17214835
97Cortical dysplasia (HP:0002539)2.17097300
98Hyperacusis (HP:0010780)2.15841213
99Partial agenesis of the corpus callosum (HP:0001338)2.15517304
100Cerebellar dysplasia (HP:0007033)2.13514869
101Genu recurvatum (HP:0002816)2.13272376
102Difficulty running (HP:0009046)2.12587682
103Coronal craniosynostosis (HP:0004440)2.12214004
104Optic nerve hypoplasia (HP:0000609)2.10838927
105Ulnar bowing (HP:0003031)2.10672496
106Hyperventilation (HP:0002883)2.08485082
107Short femoral neck (HP:0100864)2.08411479
108Glioma (HP:0009733)2.08194300
109Tetraplegia (HP:0002445)2.05191686
110Abnormality of abdominal situs (HP:0011620)2.04372800
111Abdominal situs inversus (HP:0003363)2.04372800
112Pancreatic cysts (HP:0001737)2.03094053
113Maternal diabetes (HP:0009800)2.02670279
114Cutaneous finger syndactyly (HP:0010554)2.02451208
115Aplasia/Hypoplasia of the breasts (HP:0010311)2.02329861
116Pseudobulbar signs (HP:0002200)2.02079176
117Abnormality of chromosome segregation (HP:0002916)2.00213603
118Glossoptosis (HP:0000162)1.99333468
119Anencephaly (HP:0002323)1.98348954
120Abnormality of the Achilles tendon (HP:0005109)1.97999230
121Type II lissencephaly (HP:0007260)1.97631633
122Cutaneous syndactyly (HP:0012725)1.97588164
123Hypopigmentation of the fundus (HP:0007894)1.97236554
124Aplasia/Hypoplasia of the macula (HP:0008059)1.97191831
125Hypoplastic scapulae (HP:0000882)1.96356101
126Aplasia/Hypoplasia of the scapulae (HP:0006713)1.96356101
127Lissencephaly (HP:0001339)1.96139776
128Exotropia (HP:0000577)1.95715642
129Mitral valve prolapse (HP:0001634)1.94947784
130Drooling (HP:0002307)1.94632117
131Abnormality of the phalanges of the 2nd finger (HP:0009541)1.94527070
132Labial hypoplasia (HP:0000066)1.94206477
133True hermaphroditism (HP:0010459)1.94125393
134Progressive muscle weakness (HP:0003323)1.93699165
135Abnormality of cells of the erythroid lineage (HP:0012130)1.93617099
136Vertebral fusion (HP:0002948)1.92931726
137Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.92164357
138Meningocele (HP:0002435)1.92048044
139Limb dystonia (HP:0002451)1.91663777
140Malignant neoplasm of the central nervous system (HP:0100836)1.90856803
141Vaginal atresia (HP:0000148)1.90763886
142Flat cornea (HP:0007720)1.90702319
143Tongue fasciculations (HP:0001308)1.90604408
144Pendular nystagmus (HP:0012043)1.90472316
145Abnormal pancreas size (HP:0012094)1.90416642
146Supernumerary spleens (HP:0009799)1.89765483
147Abnormality of midbrain morphology (HP:0002418)1.89558192
148Molar tooth sign on MRI (HP:0002419)1.89558192
149Abnormality of the proximal phalanges of the hand (HP:0009834)1.89063943
150Meckel diverticulum (HP:0002245)1.87917013
151Upper limb muscle weakness (HP:0003484)1.87408596
152Nephronophthisis (HP:0000090)1.87152361
153Breast aplasia (HP:0100783)1.86682080
154Hip dysplasia (HP:0001385)1.86381805
155Insomnia (HP:0100785)1.86011223
156Duplication of thumb phalanx (HP:0009942)1.86004532
157Skin pits (HP:0100276)1.85989707
158Abnormality of the septum pellucidum (HP:0007375)1.85816208
159Abnormality of the intrinsic pathway (HP:0010989)1.85762294
160Growth hormone deficiency (HP:0000824)1.85741984
161Preaxial foot polydactyly (HP:0001841)1.84942841
162Congenital primary aphakia (HP:0007707)1.84633944
163Aplasia/Hypoplasia of the uvula (HP:0010293)1.84353276
164Congenital diaphragmatic hernia (HP:0000776)1.83466933
16511 pairs of ribs (HP:0000878)1.83138753
166Concave nail (HP:0001598)1.83086189
167Infantile muscular hypotonia (HP:0008947)1.82786983
168Broad phalanges of the hand (HP:0009768)1.82661074
169Supernumerary nipples (HP:0002558)1.82561594
170Impulsivity (HP:0100710)1.82512826
171Hypoplastic female external genitalia (HP:0012815)1.81903662
172Amblyopia (HP:0000646)1.81815499
173Abnormality of the ileum (HP:0001549)1.81728241
174Broad thumb (HP:0011304)1.81077628
175Double outlet right ventricle (HP:0001719)1.80290931
176Congenital malformation of the right heart (HP:0011723)1.80290931
177Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.78660732
178Genital tract atresia (HP:0001827)1.78052355
179Hypoplastic pelvis (HP:0008839)1.77377423
180Nephrogenic diabetes insipidus (HP:0009806)1.76832824
181Holoprosencephaly (HP:0001360)1.75712635
182Medial flaring of the eyebrow (HP:0010747)1.74454632
183Pointed chin (HP:0000307)1.73511090
184Cystic liver disease (HP:0006706)1.73133699
185Focal seizures (HP:0007359)1.70556351
186Excessive salivation (HP:0003781)1.70369037
187Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.70343028
188Failure to thrive in infancy (HP:0001531)1.69893091
189Sleep apnea (HP:0010535)1.69671276

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK128.19551149
2GRK55.37316457
3ERN15.08747515
4GRK64.23897234
5EPHB24.14450013
6MARK13.47402753
7MAP2K73.41772395
8CASK3.18415375
9ADRBK23.07254701
10GRK13.02549162
11MAP3K42.99000753
12TGFBR22.78613651
13TYRO32.78476712
14CSF1R2.73983648
15MAPK72.36117331
16TTK2.29946621
17MATK2.21870046
18GRK72.19246220
19WNK32.17778378
20MOS2.15859060
21TIE12.07716825
22STK102.03347676
23NTRK21.93830912
24LATS21.92407546
25WNK11.91485535
26NTRK11.77160832
27TNIK1.56033917
28PAK41.52777502
29CDK191.50445612
30PRKG21.46901049
31CAMK41.44367051
32CDK71.39424242
33SGK4941.37274808
34SGK2231.37274808
35RPS6KA21.35643274
36EPHA31.33337177
37BCKDK1.28919391
38EPHA41.27157537
39MARK21.26731052
40FGFR21.24805134
41EPHA21.23768486
42MAP3K111.22614961
43CAMK1D1.19654032
44MAP3K101.19073373
45PRKD31.13976977
46ADRBK11.13732412
47MAPK131.12531110
48NTRK31.11139620
49STK111.10976623
50MINK11.10629969
51CAMKK11.08947764
52PINK11.07332110
53HIPK21.07055972
54STK161.06679263
55FGFR31.05998998
56BRAF1.05271923
57SIK21.05036785
58CSNK1G21.04811406
59MAP2K41.03723183
60CHEK21.03562142
61PDGFRA1.02902210
62WNK41.02707442
63CAMK1G1.00927055
64DDR21.00270634
65BCR0.98216099
66AKT30.98127155
67LIMK10.98108936
68DYRK30.96823323
69MKNK20.96301256
70CSNK1G30.94242601
71KDR0.89692190
72PLK10.89627016
73PRKCG0.89167286
74EPHB10.86385379
75CSNK1A1L0.80215757
76CDK50.80111510
77RPS6KL10.76900625
78RPS6KC10.76900625
79ALK0.73757887
80RPS6KA60.72511607
81KSR10.71760750
82CSK0.71743046
83MAPK120.68804152
84AKT20.68638287
85MAP3K70.68171914
86PTK20.68005432
87UHMK10.67276055
88CSNK1G10.65947506
89SGK20.64733358
90ARAF0.63458129
91CAMK10.63411600
92PHKG10.63311173
93PHKG20.63311173
94CHEK10.63126517
95MTOR0.61691858
96MKNK10.61068035
97PASK0.60497029
98MAP2K60.57696962
99PTK60.56554753
100PRKCZ0.56049492
101PIK3CA0.55603770
102PRKCH0.51794270
103BRSK10.51472293
104TRIB30.50838258
105MAP3K90.50409947
106MAPK150.48095543
107PNCK0.47888963
108PLK20.47254190
109PKN20.43895485
110TRIM280.43701654
111PAK10.43341608
112BMX0.43324736
113EIF2AK20.43284323
114RIPK10.42821509
115PRKACA0.41922061
116SGK10.41805157
117PAK30.41428964
118PRKD20.40337662
119FGFR10.40079660
120ERBB20.39936174
121ICK0.39761439
122PRKCI0.39549943
123IGF1R0.39409842
124ZAK0.39166877
125CSNK1A10.36222721
126PLK40.35844784
127CDK20.35212761
128PRKDC0.34510685
129LATS10.33515918
130STK380.31146413
131PAK20.29996496
132INSR0.29964752
133CSNK1E0.28444571
134SIK10.28335417
135NEK20.27498982
136RPS6KB20.27481508
137AURKA0.27255824
138PRKCD0.26956911
139TTN0.26333567
140MAPK100.25593695
141CDC70.24676742
142TAOK10.23878537
143PAK60.23443155
144ITK0.23275477
145CDK150.21776652
146FLT30.21472098
147CDK40.21145661
148TAOK20.20580538
149MAPK10.20434770
150GSK3A0.20223785
151CDK180.18684617
152CDK11A0.18524388
153MAPKAPK30.18188081
154ATM0.16954429
155CDK10.16851675
156IKBKB0.15852897
157GSK3B0.15563711
158AURKB0.15171897
159MAPK140.14433520
160DYRK20.13686571
161PRKACG0.13373512
162DYRK1A0.13140563
163TESK20.12970970
164PRPF4B0.12769194
165MAPK40.12408317
166MET0.12369902
167CDK140.12092357
168PRKACB0.12085301
169DYRK1B0.09894959
170PRKAA10.09470715
171SRC0.08270676

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006036.62047119
2Vitamin B6 metabolism_Homo sapiens_hsa007506.27034510
3Fructose and mannose metabolism_Homo sapiens_hsa000513.72274861
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.56541863
5Axon guidance_Homo sapiens_hsa043603.09612857
6Ribosome_Homo sapiens_hsa030102.92393764
7Galactose metabolism_Homo sapiens_hsa000522.66470887
8Arachidonic acid metabolism_Homo sapiens_hsa005902.62351986
9Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.29209936
10Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.22488648
11Steroid biosynthesis_Homo sapiens_hsa001002.20927046
12Cardiac muscle contraction_Homo sapiens_hsa042602.20027291
13Nicotine addiction_Homo sapiens_hsa050332.19232367
14Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.06272953
15Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.93811891
16Linoleic acid metabolism_Homo sapiens_hsa005911.93048605
17alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.85075540
18mTOR signaling pathway_Homo sapiens_hsa041501.84189630
19Pentose and glucuronate interconversions_Homo sapiens_hsa000401.80672657
20Morphine addiction_Homo sapiens_hsa050321.75015479
21Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.72024520
22Oxidative phosphorylation_Homo sapiens_hsa001901.70789621
23Parkinsons disease_Homo sapiens_hsa050121.66373267
24Dopaminergic synapse_Homo sapiens_hsa047281.64132627
25Glutamatergic synapse_Homo sapiens_hsa047241.63918719
26Phototransduction_Homo sapiens_hsa047441.59618009
27Cholinergic synapse_Homo sapiens_hsa047251.57991905
28Thyroid cancer_Homo sapiens_hsa052161.57722900
29Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.57462486
30Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.55556170
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.52096401
32Huntingtons disease_Homo sapiens_hsa050161.50222260
33Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.48620347
34Circadian entrainment_Homo sapiens_hsa047131.48301174
35Cocaine addiction_Homo sapiens_hsa050301.40655663
36Alzheimers disease_Homo sapiens_hsa050101.39454014
37Glycosaminoglycan degradation_Homo sapiens_hsa005311.38513621
38Melanogenesis_Homo sapiens_hsa049161.37036731
39RNA transport_Homo sapiens_hsa030131.32351473
40Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.31298165
41Basal cell carcinoma_Homo sapiens_hsa052171.29289056
42GABAergic synapse_Homo sapiens_hsa047271.28643767
43Synaptic vesicle cycle_Homo sapiens_hsa047211.27890237
44Regulation of actin cytoskeleton_Homo sapiens_hsa048101.20199960
45MicroRNAs in cancer_Homo sapiens_hsa052061.17236488
46Phospholipase D signaling pathway_Homo sapiens_hsa040721.16019154
47Serotonergic synapse_Homo sapiens_hsa047261.14565455
48Hedgehog signaling pathway_Homo sapiens_hsa043401.14156784
49mRNA surveillance pathway_Homo sapiens_hsa030151.12827907
50Central carbon metabolism in cancer_Homo sapiens_hsa052301.12499318
51Olfactory transduction_Homo sapiens_hsa047401.09975300
52Insulin secretion_Homo sapiens_hsa049111.09857074
53Ovarian steroidogenesis_Homo sapiens_hsa049131.09388403
54Hippo signaling pathway_Homo sapiens_hsa043901.04129367
55Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.03388482
56Melanoma_Homo sapiens_hsa052181.03372067
57Bladder cancer_Homo sapiens_hsa052191.02635942
58Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.01073976
59ECM-receptor interaction_Homo sapiens_hsa045120.97811814
60Gap junction_Homo sapiens_hsa045400.95844258
61Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.95564982
62Pathways in cancer_Homo sapiens_hsa052000.94670204
63Rap1 signaling pathway_Homo sapiens_hsa040150.94545726
64Chemical carcinogenesis_Homo sapiens_hsa052040.94094363
65Transcriptional misregulation in cancer_Homo sapiens_hsa052020.92935725
66Cell cycle_Homo sapiens_hsa041100.92342073
67Fatty acid metabolism_Homo sapiens_hsa012120.91913127
68Proteoglycans in cancer_Homo sapiens_hsa052050.91763458
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.90880501
70Fat digestion and absorption_Homo sapiens_hsa049750.90796813
71Other glycan degradation_Homo sapiens_hsa005110.89523375
72p53 signaling pathway_Homo sapiens_hsa041150.88410196
73One carbon pool by folate_Homo sapiens_hsa006700.87688149
74Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.86312210
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.86139983
76Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.85686774
77Protein digestion and absorption_Homo sapiens_hsa049740.85605964
78Choline metabolism in cancer_Homo sapiens_hsa052310.85469016
79Alcoholism_Homo sapiens_hsa050340.83337705
80Fanconi anemia pathway_Homo sapiens_hsa034600.82884440
81Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.81149781
82Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.80165583
83Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.79233680
84Long-term depression_Homo sapiens_hsa047300.77769930
85Focal adhesion_Homo sapiens_hsa045100.77769567
86Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.76935613
87Inositol phosphate metabolism_Homo sapiens_hsa005620.76420970
88Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.75991076
89Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.73345180
90Adherens junction_Homo sapiens_hsa045200.73089656
91Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.72839476
92Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.72517043
93Wnt signaling pathway_Homo sapiens_hsa043100.71928815
94RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.71343938
95PI3K-Akt signaling pathway_Homo sapiens_hsa041510.69792047
96Butanoate metabolism_Homo sapiens_hsa006500.69349025
97Non-small cell lung cancer_Homo sapiens_hsa052230.68055909
98Ether lipid metabolism_Homo sapiens_hsa005650.66530577
99Type II diabetes mellitus_Homo sapiens_hsa049300.66010845
100Propanoate metabolism_Homo sapiens_hsa006400.65920334
101Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65767810
102MAPK signaling pathway_Homo sapiens_hsa040100.65263260
103Oxytocin signaling pathway_Homo sapiens_hsa049210.64412133
104Pancreatic cancer_Homo sapiens_hsa052120.63326689
105Acute myeloid leukemia_Homo sapiens_hsa052210.62993365
106Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.61766793
107VEGF signaling pathway_Homo sapiens_hsa043700.61251486
108cAMP signaling pathway_Homo sapiens_hsa040240.59363308
109Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.55048039
110Notch signaling pathway_Homo sapiens_hsa043300.54048453
111Cysteine and methionine metabolism_Homo sapiens_hsa002700.53726746
112RNA degradation_Homo sapiens_hsa030180.53714503
113African trypanosomiasis_Homo sapiens_hsa051430.52576380
114Dilated cardiomyopathy_Homo sapiens_hsa054140.51750761
115Gastric acid secretion_Homo sapiens_hsa049710.50745836
116Retinol metabolism_Homo sapiens_hsa008300.50629676
117Ras signaling pathway_Homo sapiens_hsa040140.49564125
118Pentose phosphate pathway_Homo sapiens_hsa000300.49071054
119Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.48829291
120Tight junction_Homo sapiens_hsa045300.47532156
121Complement and coagulation cascades_Homo sapiens_hsa046100.47484135
122AMPK signaling pathway_Homo sapiens_hsa041520.47289900
123Leukocyte transendothelial migration_Homo sapiens_hsa046700.47020690
124Colorectal cancer_Homo sapiens_hsa052100.46249716
125Endometrial cancer_Homo sapiens_hsa052130.45705220
126Amphetamine addiction_Homo sapiens_hsa050310.45493779
127Tryptophan metabolism_Homo sapiens_hsa003800.43801617
128Peroxisome_Homo sapiens_hsa041460.43641632
129TGF-beta signaling pathway_Homo sapiens_hsa043500.43369071
130GnRH signaling pathway_Homo sapiens_hsa049120.42771445
131Malaria_Homo sapiens_hsa051440.42215145
132Vascular smooth muscle contraction_Homo sapiens_hsa042700.40581069
133Aldosterone synthesis and secretion_Homo sapiens_hsa049250.40425658
134ErbB signaling pathway_Homo sapiens_hsa040120.38628739
135Small cell lung cancer_Homo sapiens_hsa052220.38270753
136Fatty acid degradation_Homo sapiens_hsa000710.38151014
137Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37148151
138Basal transcription factors_Homo sapiens_hsa030220.36783041
139Apoptosis_Homo sapiens_hsa042100.34924938
140* Thyroid hormone signaling pathway_Homo sapiens_hsa049190.34025618
141HTLV-I infection_Homo sapiens_hsa051660.33698982
142Sulfur relay system_Homo sapiens_hsa041220.32921408
143Arginine and proline metabolism_Homo sapiens_hsa003300.32722968
144Bile secretion_Homo sapiens_hsa049760.32505017
145Folate biosynthesis_Homo sapiens_hsa007900.32233943
146Phosphatidylinositol signaling system_Homo sapiens_hsa040700.31800570
147Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.31798373
148DNA replication_Homo sapiens_hsa030300.30563516
149Biosynthesis of amino acids_Homo sapiens_hsa012300.30108259
150Glycerolipid metabolism_Homo sapiens_hsa005610.29831020
151Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.29671471
152Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.29036598
153Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28976729
154Taste transduction_Homo sapiens_hsa047420.28561191
155Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.28344950
156Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.28001336
157Nitrogen metabolism_Homo sapiens_hsa009100.27737466
158Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.26973849
159Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.26172680
160Homologous recombination_Homo sapiens_hsa034400.26060746
161Glycerophospholipid metabolism_Homo sapiens_hsa005640.25386656
162Sphingolipid signaling pathway_Homo sapiens_hsa040710.24966746
163Cyanoamino acid metabolism_Homo sapiens_hsa004600.23799647
164Carbon metabolism_Homo sapiens_hsa012000.22494756

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