PAX9

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 is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1motile cilium assembly (GO:0044458)8.49599117
2cilium movement (GO:0003341)8.32999810
3metanephric mesenchyme development (GO:0072075)7.20828591
4head development (GO:0060322)6.77778022
5middle ear morphogenesis (GO:0042474)6.71801722
6regulation of secondary heart field cardioblast proliferation (GO:0003266)6.66446627
7regulation of cardioblast proliferation (GO:0003264)6.66446627
8kidney mesenchyme development (GO:0072074)6.46981730
9epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)6.40780536
10myoblast migration (GO:0051451)6.33444807
11epithelial cilium movement (GO:0003351)6.33187833
12diterpenoid biosynthetic process (GO:0016102)5.54188269
13planar cell polarity pathway involved in neural tube closure (GO:0090179)5.50141371
14embryonic cranial skeleton morphogenesis (GO:0048701)5.47644313
15regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)5.36989924
16desmosome organization (GO:0002934)5.33248332
17regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)5.29185264
18cranial nerve morphogenesis (GO:0021602)5.24014308
19regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450915.16932255
20regulation of water loss via skin (GO:0033561)4.95830134
21regulation of non-canonical Wnt signaling pathway (GO:2000050)4.92126027
22primary alcohol catabolic process (GO:0034310)4.91337697
23multicellular organismal water homeostasis (GO:0050891)4.90302467
24establishment of skin barrier (GO:0061436)4.88300902
25left/right axis specification (GO:0070986)4.83958120
26regulation of translational termination (GO:0006449)4.77637424
27axonal fasciculation (GO:0007413)4.68317630
28left/right pattern formation (GO:0060972)4.62911238
29positive regulation of mesenchymal cell proliferation (GO:0002053)4.62206309
30negative regulation of axon extension involved in axon guidance (GO:0048843)4.57312152
31establishment of planar polarity (GO:0001736)4.57109021
32establishment of tissue polarity (GO:0007164)4.57109021
33cochlea morphogenesis (GO:0090103)4.55882541
34G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071994.54871023
35bone morphogenesis (GO:0060349)4.41202276
36axoneme assembly (GO:0035082)4.37691196
37lateral sprouting from an epithelium (GO:0060601)4.31820941
38regulation of mesenchymal cell proliferation (GO:0010464)4.30502720
39regulation of heart morphogenesis (GO:2000826)4.28731027
40aorta morphogenesis (GO:0035909)4.28380548
41regulation of cell proliferation involved in heart morphogenesis (GO:2000136)4.27842178
42positive regulation of embryonic development (GO:0040019)4.19178517
43generation of neurons (GO:0048699)4.18325087
44keratinization (GO:0031424)4.15488759
45ventricular system development (GO:0021591)4.13076562
46keratinocyte differentiation (GO:0030216)4.11523851
47water homeostasis (GO:0030104)4.08797000
48convergent extension (GO:0060026)4.04955438
49embryonic hindlimb morphogenesis (GO:0035116)4.02730313
50pharyngeal system development (GO:0060037)4.01545778
51establishment of apical/basal cell polarity (GO:0035089)4.00189839
52mesenchymal cell differentiation involved in kidney development (GO:0072161)4.00134385
53mesenchymal cell differentiation involved in renal system development (GO:2001012)4.00134385
54negative regulation of chondrocyte differentiation (GO:0032331)3.99943088
55terpenoid biosynthetic process (GO:0016114)3.94629919
56nephron tubule formation (GO:0072079)3.94070301
57bone trabecula formation (GO:0060346)3.92369298
58axon extension involved in axon guidance (GO:0048846)3.90461062
59neuron projection extension involved in neuron projection guidance (GO:1902284)3.90461062
60chondrocyte development (GO:0002063)3.89886917
61mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.89403594
62hindlimb morphogenesis (GO:0035137)3.89127137
63vitamin transmembrane transport (GO:0035461)3.86760495
64regulation of branching involved in ureteric bud morphogenesis (GO:0090189)3.82955691
65negative regulation of cell fate specification (GO:0009996)3.80653725
66cell proliferation involved in metanephros development (GO:0072203)3.80642758
67outer ear morphogenesis (GO:0042473)3.80151053
68body morphogenesis (GO:0010171)3.76763630
69hippo signaling (GO:0035329)3.76117040
70Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.74770564
71regulation of establishment of planar polarity (GO:0090175)3.69639491
72sequestering of extracellular ligand from receptor (GO:0035581)3.69330494
73negative regulation of axon guidance (GO:1902668)3.68650157
74midgut development (GO:0007494)3.67020937
75intestinal epithelial cell development (GO:0060576)3.65511782
76positive regulation of smoothened signaling pathway (GO:0045880)3.64077164
77mesenchyme development (GO:0060485)3.62791260
78lung epithelium development (GO:0060428)3.61877019
79one-carbon compound transport (GO:0019755)3.61271438
80positive regulation of catenin import into nucleus (GO:0035413)3.60077455
81regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.59950841
82centriole assembly (GO:0098534)3.58745205
83positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)3.57293752
84palate development (GO:0060021)3.54833235
85craniofacial suture morphogenesis (GO:0097094)3.54604840
86negative regulation of catenin import into nucleus (GO:0035414)3.53276718
87camera-type eye morphogenesis (GO:0048593)3.51076139
88negative regulation of keratinocyte proliferation (GO:0010839)3.49838112
89ethanol metabolic process (GO:0006067)3.49152629
90positive regulation of gastrulation (GO:2000543)3.47328745
91regulation of axon extension involved in axon guidance (GO:0048841)3.47073109
92artery morphogenesis (GO:0048844)3.45377496
93embryonic skeletal joint morphogenesis (GO:0060272)3.42442219
94ganglion development (GO:0061548)3.41138228
95O-glycan processing (GO:0016266)3.40746415
96peptide cross-linking (GO:0018149)3.39340940
97regulation of acrosome reaction (GO:0060046)3.39037302
98heart morphogenesis (GO:0003007)3.38557395
99eyelid development in camera-type eye (GO:0061029)3.37189170
100embryonic body morphogenesis (GO:0010172)3.36508426
101regulation of interleukin-13 production (GO:0032656)3.36047408
102pyrimidine-containing compound transmembrane transport (GO:0072531)3.34209599
103polarized epithelial cell differentiation (GO:0030859)3.34155589
104mitotic chromosome condensation (GO:0007076)3.33818735
105glomerular filtration (GO:0003094)3.33712200
106regulation of catenin import into nucleus (GO:0035412)3.32008202
107negative regulation of cytosolic calcium ion concentration (GO:0051481)3.29989539
108epidermal cell differentiation (GO:0009913)3.29506277
109regulation of mesonephros development (GO:0061217)3.28312896
110mesenchymal cell proliferation (GO:0010463)3.25835958
111mitotic sister chromatid cohesion (GO:0007064)3.25160207
112extracellular negative regulation of signal transduction (GO:1900116)3.24155455
113extracellular regulation of signal transduction (GO:1900115)3.24155455
114embryonic skeletal system morphogenesis (GO:0048704)3.23264942
115regulation of nephron tubule epithelial cell differentiation (GO:0072182)3.22982494
116retinoic acid metabolic process (GO:0042573)3.22427674
117mRNA cleavage (GO:0006379)3.22041056
118negative regulation of cartilage development (GO:0061037)3.21765617
119regulation of interleukin-5 production (GO:0032674)3.21058471
120apical protein localization (GO:0045176)3.20391989
121negative chemotaxis (GO:0050919)3.19845823
122surfactant homeostasis (GO:0043129)3.19499625
123embryonic digestive tract morphogenesis (GO:0048557)3.16854434
124asymmetric protein localization (GO:0008105)3.16568325
125muscle cell migration (GO:0014812)3.13946403
126glomerular epithelial cell development (GO:0072310)3.13904768
127embryonic forelimb morphogenesis (GO:0035115)3.13587318
128cell proliferation involved in kidney development (GO:0072111)3.13421720
129outflow tract morphogenesis (GO:0003151)3.13233336
130non-canonical Wnt signaling pathway (GO:0035567)3.12585030
131positive regulation of stem cell proliferation (GO:2000648)3.11459293
132cardiac left ventricle morphogenesis (GO:0003214)3.10804508
133branching involved in ureteric bud morphogenesis (GO:0001658)3.10278828
134bundle of His cell to Purkinje myocyte communication (GO:0086069)3.08163410
135embryonic limb morphogenesis (GO:0030326)3.07058614
136embryonic appendage morphogenesis (GO:0035113)3.07058614
137kinetochore organization (GO:0051383)3.06128681
138renal filtration (GO:0097205)3.05846866
139regulation of axon guidance (GO:1902667)3.02672882
140appendage morphogenesis (GO:0035107)3.01954287
141limb morphogenesis (GO:0035108)3.01954287
142chemical homeostasis within a tissue (GO:0048875)3.00830997
143prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060523.00793194
144tongue development (GO:0043586)3.00777329
145establishment of monopolar cell polarity (GO:0061162)2.98959350
146establishment or maintenance of monopolar cell polarity (GO:0061339)2.98959350
147keratinocyte proliferation (GO:0043616)2.98602755
148diol metabolic process (GO:0034311)2.97209378
149microtubule bundle formation (GO:0001578)2.97072961
150notochord development (GO:0030903)2.94092015
151intraciliary transport (GO:0042073)2.93795249
152N-terminal protein amino acid acetylation (GO:0006474)2.92965078
153iron ion import (GO:0097286)2.92013128
154mitotic G1 DNA damage checkpoint (GO:0031571)2.91282027
155epithelial cell maturation (GO:0002070)2.89485742
156epidermis development (GO:0008544)2.89461258
157regulation of keratinocyte differentiation (GO:0045616)2.84469056
158regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)2.83578255
159microtubule-based movement (GO:0007018)2.82036933
160epithelial cell differentiation involved in prostate gland development (GO:0060742)2.81262132
161COPI coating of Golgi vesicle (GO:0048205)2.80618687
162Golgi transport vesicle coating (GO:0048200)2.80618687
163regulation of cilium movement (GO:0003352)2.79169106
164ear development (GO:0043583)2.77980097
165meiotic cell cycle (GO:0051321)2.77035723
166embryonic camera-type eye development (GO:0031076)2.71450467
167face development (GO:0060324)2.71228448
168establishment or maintenance of bipolar cell polarity (GO:0061245)2.69148201
169establishment or maintenance of apical/basal cell polarity (GO:0035088)2.69148201
170epithelial cell-cell adhesion (GO:0090136)2.68358235
171negative regulation of T cell differentiation in thymus (GO:0033085)2.66512164
172G1 DNA damage checkpoint (GO:0044783)2.64761720
173cilium organization (GO:0044782)2.64163000
174sphingoid metabolic process (GO:0046519)2.63106684
175sphingosine metabolic process (GO:0006670)2.62083126
176cilium assembly (GO:0042384)2.57802961
177regulation of chromatin binding (GO:0035561)2.54509357
178protein O-linked glycosylation (GO:0006493)2.54106540
179piRNA metabolic process (GO:0034587)2.52534686
180hypotonic response (GO:0006971)2.51057423
181dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.49269931
182DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.48867629
183microtubule depolymerization (GO:0007019)2.48861846
184ether lipid metabolic process (GO:0046485)2.47774226
185nuclear pore complex assembly (GO:0051292)2.47666033
186regulation of receptor binding (GO:1900120)2.45723037
187positive regulation of cell size (GO:0045793)2.44073647
188chromosome condensation (GO:0030261)2.44022752
189cytoplasmic microtubule organization (GO:0031122)2.43138822
190mitotic G1/S transition checkpoint (GO:0044819)2.41698617
191negative regulation of cAMP-mediated signaling (GO:0043951)2.39020638
192axonemal dynein complex assembly (GO:0070286)11.0145486
193cilium or flagellum-dependent cell motility (GO:0001539)10.2649730

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse5.87226939
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.73315593
3RBPJ_22232070_ChIP-Seq_NCS_Mouse3.62545358
4TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.62385042
5SALL1_21062744_ChIP-ChIP_HESCs_Human3.60123036
6SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.39393524
7E2F7_22180533_ChIP-Seq_HELA_Human3.32141463
8GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.22469842
9ESR2_21235772_ChIP-Seq_MCF-7_Human3.20287305
10FOXM1_23109430_ChIP-Seq_U2OS_Human3.17939220
11CEBPD_23245923_ChIP-Seq_MEFs_Mouse3.11408042
12ESR1_21235772_ChIP-Seq_MCF-7_Human2.88541495
13KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human2.59147292
14ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.57008406
15TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.55940755
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.55344415
17* RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.47433757
18EZH2_22144423_ChIP-Seq_EOC_Human2.45660649
19WT1_19549856_ChIP-ChIP_CCG9911_Human2.44050020
20RUNX1_27514584_Chip-Seq_MCF-7_Human2.38658723
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.37197932
22HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.37119007
23KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human2.33212791
24RACK7_27058665_Chip-Seq_MCF-7_Human2.31258409
25TP63_19390658_ChIP-ChIP_HaCaT_Human2.29355017
26* EED_16625203_ChIP-ChIP_MESCs_Mouse2.27446966
27* EZH2_27304074_Chip-Seq_ESCs_Mouse2.15443496
28FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human2.12671393
29* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human2.11083528
30GATA3_24758297_ChIP-Seq_MCF-7_Human2.10718679
31POU5F1_16153702_ChIP-ChIP_HESCs_Human2.06191004
32ESR1_15608294_ChIP-ChIP_MCF-7_Human2.04752156
33SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.03500957
34SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.03500957
35SOX9_24532713_ChIP-Seq_HFSC_Mouse1.93473683
36EWS_26573619_Chip-Seq_HEK293_Human1.92175658
37GATA6_25053715_ChIP-Seq_YYC3_Human1.91176760
38STAT6_21828071_ChIP-Seq_BEAS2B_Human1.89298872
39TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.87980660
40* CBX2_27304074_Chip-Seq_ESCs_Mouse1.87325446
41FUS_26573619_Chip-Seq_HEK293_Human1.83848747
42E2F4_17652178_ChIP-ChIP_JURKAT_Human1.83525456
43FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.82833838
44BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.80657475
45* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.79845256
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.78648221
47PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.78350179
48SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.75111288
49* TP53_18474530_ChIP-ChIP_U2OS_Human1.75030182
50* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.72888033
51* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.72841006
52IGF1R_20145208_ChIP-Seq_DFB_Human1.71909977
53SOX2_27498859_Chip-Seq_STOMACH_Mouse1.71667351
54* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.71545982
55* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.71545982
56GBX2_23144817_ChIP-Seq_PC3_Human1.71360808
57CHD1_26751641_Chip-Seq_LNCaP_Human1.71132677
58SMAD_19615063_ChIP-ChIP_OVARY_Human1.70527852
59CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.67231010
60PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.65718852
61TP53_16413492_ChIP-PET_HCT116_Human1.65045445
62ELF5_23300383_ChIP-Seq_T47D_Human1.64349704
63* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.63715688
64P63_26484246_Chip-Seq_KERATINOCYTES_Human1.62019194
65KLF5_25053715_ChIP-Seq_YYC3_Human1.62017717
66CTBP2_25329375_ChIP-Seq_LNCAP_Human1.59683649
67* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.58677636
68ZNF263_19887448_ChIP-Seq_K562_Human1.58257363
69TCF4_18268006_ChIP-ChIP_LS174T_Human1.57740708
70* RNF2_27304074_Chip-Seq_ESCs_Mouse1.56876766
71SOX2_16153702_ChIP-ChIP_HESCs_Human1.56006554
72POU3F2_20337985_ChIP-ChIP_501MEL_Human1.54423107
73ATF3_27146783_Chip-Seq_COLON_Human1.52447157
74CDX2_20551321_ChIP-Seq_CACO-2_Human1.52321397
75* ISL1_27105846_Chip-Seq_CPCs_Mouse1.52268106
76* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.51861757
77NR3C1_21868756_ChIP-Seq_MCF10A_Human1.51795639
78ZNF217_24962896_ChIP-Seq_MCF-7_Human1.51677713
79KDM5A_27292631_Chip-Seq_BREAST_Human1.50831167
80PKCTHETA_26484144_Chip-Seq_BREAST_Human1.50606281
81BCAT_22108803_ChIP-Seq_LS180_Human1.47509665
82FOXO3_23340844_ChIP-Seq_DLD1_Human1.45770278
83* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.45691233
84* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.45183066
85* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.43955311
86* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.43759372
87GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43361270
88* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.43091998
89P300_19829295_ChIP-Seq_ESCs_Human1.42730312
90AR_21572438_ChIP-Seq_LNCaP_Human1.42682786
91ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.42606677
92* TP53_20018659_ChIP-ChIP_R1E_Mouse1.41667326
93SMAD3_21741376_ChIP-Seq_EPCs_Human1.41395278
94* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.40217809
95TRIM28_21343339_ChIP-Seq_HEK293_Human1.40198707
96HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.39296922
97AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.39159386
98POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.38679618
99TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.38679618
100EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.36022542
101TP63_22573176_ChIP-Seq_HFKS_Human1.35538541
102SMC4_20622854_ChIP-Seq_HELA_Human1.34763774
103RARG_19884340_ChIP-ChIP_MEFs_Mouse1.32691029
104ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.31076762
105CDX2_19796622_ChIP-Seq_MESCs_Mouse1.30669867
106SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.29683645
107* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.29349032
108SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.29042133
109GATA4_25053715_ChIP-Seq_YYC3_Human1.28925952
110FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.25544221
111RNF2_27304074_Chip-Seq_NSC_Mouse1.25534842
112E2F1_21310950_ChIP-Seq_MCF-7_Human1.24129502
113YAP1_20516196_ChIP-Seq_MESCs_Mouse1.22469511
114SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.21652822
115CTBP1_25329375_ChIP-Seq_LNCAP_Human1.18964214
116HIF1A_21447827_ChIP-Seq_MCF-7_Human1.18882641
117* CREB1_26743006_Chip-Seq_LNCaP_Human1.18375860
118DCP1A_22483619_ChIP-Seq_HELA_Human1.17216996
119DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.17135650
120PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.14977364
121* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.14933513
122* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.13624866
123NRF2_20460467_ChIP-Seq_MEFs_Mouse1.13221745
124NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.13221745
125* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.13064782
126STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.12385153
127* RING1B_27294783_Chip-Seq_NPCs_Mouse1.12187896
128SOX2_20726797_ChIP-Seq_SW620_Human1.11996253
129TP63_17297297_ChIP-ChIP_HaCaT_Human1.10188329
130OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09619747
131SMAD4_21799915_ChIP-Seq_A2780_Human1.09236108
132AR_21909140_ChIP-Seq_LNCAP_Human1.08581529
133AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.08286876
134TP63_23658742_ChIP-Seq_EP156T_Human1.08100017
135KLF4_18555785_ChIP-Seq_MESCs_Mouse1.07868134
136AR_25329375_ChIP-Seq_VCAP_Human1.07287252
137TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.07267847
138ARNT_22903824_ChIP-Seq_MCF-7_Human1.05830502
139WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.05179415
140* ZNF274_21170338_ChIP-Seq_K562_Hela1.04390410
141* RING1B_27294783_Chip-Seq_ESCs_Mouse1.04366416
142RXR_22108803_ChIP-Seq_LS180_Human1.03676063
143CTNNB1_20460455_ChIP-Seq_HCT116_Human1.02793342
144DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.02674303
145SOX9_26525672_Chip-Seq_HEART_Mouse1.02627393
146AHR_22903824_ChIP-Seq_MCF-7_Human1.02507258
147* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.02276483
148FOXA1_25552417_ChIP-Seq_VCAP_Human1.02177476
149EP300_21415370_ChIP-Seq_HL-1_Mouse1.01211466
150BRD4_25478319_ChIP-Seq_HGPS_Human0.99178755
151* SUZ12_27294783_Chip-Seq_ESCs_Mouse0.99146096
152TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99135585
153MYC_18555785_ChIP-Seq_MESCs_Mouse0.98587013
154CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.98414745
155STAT3_1855785_ChIP-Seq_MESCs_Mouse0.98386454
156ESR1_20079471_ChIP-ChIP_T-47D_Human0.98218123
157* EZH2_27294783_Chip-Seq_ESCs_Mouse0.98092157
158EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.97162043
159NANOG_18555785_Chip-Seq_ESCs_Mouse0.97005162
160* KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.96044510
161DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.94372513
162SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.92504637
163ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.92374876
164TDRD3_21172665_ChIP-Seq_MCF-7_Human0.90544065
165P300_27058665_Chip-Seq_ZR-75-30cells_Human0.89465721
166GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.85400114
167PADI4_21655091_ChIP-ChIP_MCF-7_Human0.84362843
168P68_20966046_ChIP-Seq_HELA_Human0.84337136
169KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.82818632
170CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.82629355
171CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.82058577
172GATA6_21074721_ChIP-Seq_CACO-2_Human0.81559721
173* TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.79491771
174NCOR1_26117541_ChIP-Seq_K562_Human0.79104725
175EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.78850250
176CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.76692746
177MYCN_18555785_ChIP-Seq_MESCs_Mouse0.76524163
178E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.73798407
179VDR_22108803_ChIP-Seq_LS180_Human0.73592716
180CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.73550088
181HNFA_21074721_ChIP-Seq_CACO-2_Human0.73102031
182ZFX_18555785_ChIP-Seq_MESCs_Mouse0.72722941
183STAT1_20625510_ChIP-Seq_HELA_Human0.72039881
184UBF1/2_26484160_Chip-Seq_HMECs_Human0.71758361

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle6.38716122
2MP0010030_abnormal_orbit_morphology5.00326984
3MP0009780_abnormal_chondrocyte_physiolo4.05799447
4MP0002796_impaired_skin_barrier3.98508494
5MP0001346_abnormal_lacrimal_gland3.52928056
6* MP0000049_abnormal_middle_ear3.41019863
7MP0000762_abnormal_tongue_morphology3.21699445
8MP0003122_maternal_imprinting2.99754974
9MP0003385_abnormal_body_wall2.90814535
10MP0009250_abnormal_appendicular_skeleto2.88676722
11MP0002938_white_spotting2.81274554
12* MP0003755_abnormal_palate_morphology2.80395019
13MP0005501_abnormal_skin_physiology2.70664692
14MP0000566_synostosis2.66521293
15MP0001299_abnormal_eye_distance/2.65997713
16* MP0003937_abnormal_limbs/digits/tail_de2.65577539
17MP0003942_abnormal_urinary_system2.55084715
18MP0000537_abnormal_urethra_morphology2.54239765
19MP0002233_abnormal_nose_morphology2.53349418
20MP0003121_genomic_imprinting2.51890326
21MP0004264_abnormal_extraembryonic_tissu2.51720253
22MP0002234_abnormal_pharynx_morphology2.49904265
23MP0009384_cardiac_valve_regurgitation2.46615356
24MP0008789_abnormal_olfactory_epithelium2.45271059
25MP0008057_abnormal_DNA_replication2.42690539
26MP0000613_abnormal_salivary_gland2.39578676
27MP0000534_abnormal_ureter_morphology2.31935086
28* MP0003935_abnormal_craniofacial_develop2.27621711
29MP0004043_abnormal_pH_regulation2.26301273
30MP0003938_abnormal_ear_development2.24417730
31MP0003123_paternal_imprinting2.21594452
32MP0000733_abnormal_muscle_development2.18395388
33MP0008875_abnormal_xenobiotic_pharmacok2.16527498
34MP0002932_abnormal_joint_morphology2.12718154
35MP0010352_gastrointestinal_tract_polyps2.03275561
36MP0009053_abnormal_anal_canal1.94312731
37MP0002177_abnormal_outer_ear1.92453788
38MP0003941_abnormal_skin_development1.89251820
39MP0003693_abnormal_embryo_hatching1.88653659
40MP0000516_abnormal_urinary_system1.87369062
41MP0005367_renal/urinary_system_phenotyp1.87369062
42MP0001293_anophthalmia1.82159220
43* MP0002116_abnormal_craniofacial_bone1.79574390
44* MP0002249_abnormal_larynx_morphology1.78396544
45MP0003453_abnormal_keratinocyte_physiol1.69857478
46MP0002653_abnormal_ependyma_morphology1.68375327
47MP0002132_abnormal_respiratory_system1.67729796
48MP0005623_abnormal_meninges_morphology1.66935581
49MP0004782_abnormal_surfactant_physiolog1.64543335
50MP0003950_abnormal_plasma_membrane1.64374808
51* MP0001270_distended_abdomen1.63760522
52* MP0000432_abnormal_head_morphology1.62845481
53MP0000428_abnormal_craniofacial_morphol1.62517353
54MP0002277_abnormal_respiratory_mucosa1.56495379
55* MP0002109_abnormal_limb_morphology1.56294851
56MP0001216_abnormal_epidermal_layer1.55348862
57MP0003077_abnormal_cell_cycle1.55312260
58* MP0005503_abnormal_tendon_morphology1.52942688
59MP0004233_abnormal_muscle_weight1.50883757
60MP0003718_maternal_effect1.48637746
61MP0002160_abnormal_reproductive_system1.44434443
62MP0010771_integument_phenotype1.43294393
63MP0002254_reproductive_system_inflammat1.37112482
64MP0005248_abnormal_Harderian_gland1.35601992
65MP0001340_abnormal_eyelid_morphology1.34945868
66* MP0000163_abnormal_cartilage_morphology1.34046259
67MP0002877_abnormal_melanocyte_morpholog1.32532990
68MP0002009_preneoplasia1.31744809
69MP0004134_abnormal_chest_morphology1.30203307
70MP0002113_abnormal_skeleton_development1.29047707
71MP0003566_abnormal_cell_adhesion1.28338163
72MP0000627_abnormal_mammary_gland1.26801282
73* MP0005508_abnormal_skeleton_morphology1.26258268
74MP0003705_abnormal_hypodermis_morpholog1.26194275
75MP0000631_abnormal_neuroendocrine_gland1.24767111
76MP0005083_abnormal_biliary_tract1.23801477
77MP0004957_abnormal_blastocyst_morpholog1.22984016
78MP0005395_other_phenotype1.19127540
79MP0005171_absent_coat_pigmentation1.18718599
80MP0002060_abnormal_skin_morphology1.17953492
81MP0003111_abnormal_nucleus_morphology1.17772308
82MP0000377_abnormal_hair_follicle1.16960544
83MP0001765_abnormal_ion_homeostasis1.15518924
84MP0002114_abnormal_axial_skeleton1.15095309
85MP0003115_abnormal_respiratory_system1.15021454
86MP0001286_abnormal_eye_development1.13516736
87MP0002876_abnormal_thyroid_physiology1.13170963
88MP0002115_abnormal_skeleton_extremities1.10975680
89MP0003787_abnormal_imprinting1.10897743
90MP0009278_abnormal_bone_marrow1.10360276
91MP0002111_abnormal_tail_morphology1.10116138
92MP0004272_abnormal_basement_membrane1.10025300
93MP0004185_abnormal_adipocyte_glucose1.09626924
94MP0002909_abnormal_adrenal_gland1.08565612
95MP0002896_abnormal_bone_mineralization1.07803374
96MP0009703_decreased_birth_body1.05088872
97MP0002092_abnormal_eye_morphology1.04815742
98MP0001881_abnormal_mammary_gland1.03539774
99MP0000383_abnormal_hair_follicle1.02052562
100MP0003283_abnormal_digestive_organ1.00799927
101MP0002168_other_aberrant_phenotype1.00729988
102MP0005394_taste/olfaction_phenotype0.97320761
103MP0005499_abnormal_olfactory_system0.97320761
104MP0010307_abnormal_tumor_latency0.97163988
105MP0008438_abnormal_cutaneous_collagen0.96002544
106MP0010094_abnormal_chromosome_stability0.95290331
107MP0002282_abnormal_trachea_morphology0.94381447
108MP0005380_embryogenesis_phenotype0.92973211
109MP0001672_abnormal_embryogenesis/_devel0.92973211
110MP0003119_abnormal_digestive_system0.92313202
111MP0006054_spinal_hemorrhage0.90844385
112MP0000350_abnormal_cell_proliferation0.90843555
113MP0001849_ear_inflammation0.89866243
114MP0005187_abnormal_penis_morphology0.89774167
115MP0000579_abnormal_nail_morphology0.89558687
116MP0001664_abnormal_digestion0.88364749
117MP0008932_abnormal_embryonic_tissue0.86433980
118MP0000462_abnormal_digestive_system0.86355780
119MP0005275_abnormal_skin_tensile0.83877491
120MP0005076_abnormal_cell_differentiation0.83600805
121* MP0002085_abnormal_embryonic_tissue0.82354968
122MP0002098_abnormal_vibrissa_morphology0.81642032
123* MP0002081_perinatal_lethality0.81472617
124MP0001485_abnormal_pinna_reflex0.80754128
125MP0003828_pulmonary_edema0.80542247
126MP0002080_prenatal_lethality0.78631180
127MP0009697_abnormal_copulation0.78594654
128MP0010678_abnormal_skin_adnexa0.78276387
129MP0005409_darkened_coat_color0.78246465
130MP0002697_abnormal_eye_size0.77880073
131MP0000026_abnormal_inner_ear0.77092134
132MP0003984_embryonic_growth_retardation0.76865002
133MP0001730_embryonic_growth_arrest0.76300963
134MP0000358_abnormal_cell_content/0.75728038
135MP0003656_abnormal_erythrocyte_physiolo0.75687245
136MP0004019_abnormal_vitamin_homeostasis0.75011314
137MP0008058_abnormal_DNA_repair0.74605821
138MP0001929_abnormal_gametogenesis0.74195295
139MP0002084_abnormal_developmental_patter0.74136459
140MP0003861_abnormal_nervous_system0.73701845
141MP0002088_abnormal_embryonic_growth/wei0.73562420
142* MP0000681_abnormal_thyroid_gland0.73345862
143MP0004858_abnormal_nervous_system0.72658098
144MP0004197_abnormal_fetal_growth/weight/0.71358664
145MP0005023_abnormal_wound_healing0.70221085
146MP0003045_fibrosis0.69755254
147MP0003315_abnormal_perineum_morphology0.69143573
148MP0005646_abnormal_pituitary_gland0.69109327
149MP0002925_abnormal_cardiovascular_devel0.69036929
150MP0002095_abnormal_skin_pigmentation0.67230839
151MP0006138_congestive_heart_failure0.67061886
152MP0000470_abnormal_stomach_morphology0.66934042
153MP0001697_abnormal_embryo_size0.65957699
154MP0003936_abnormal_reproductive_system0.65890308
155MP0005636_abnormal_mineral_homeostasis0.65746891
156MP0001175_abnormal_lung_morphology0.65266101
157MP0003786_premature_aging0.64168301
158MP0002396_abnormal_hematopoietic_system0.63649125
159MP0000778_abnormal_nervous_system0.63323316
160MP0000427_abnormal_hair_cycle0.62850711
161* MP0001943_abnormal_respiration0.62451463
162MP0001879_abnormal_lymphatic_vessel0.61947991
163MP0000569_abnormal_digit_pigmentation0.61087462
164* MP0000678_abnormal_parathyroid_gland0.57974286
165MP0000467_abnormal_esophagus_morphology0.57055927
166MP0003567_abnormal_fetal_cardiomyocyte0.56383938

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)9.42533233
2Abnormal respiratory motile cilium physiology (HP:0012261)8.46799537
3Abnormal ciliary motility (HP:0012262)8.22585081
4Abnormal respiratory motile cilium morphology (HP:0005938)7.89420838
5Abnormal respiratory epithelium morphology (HP:0012253)7.89420838
6Rhinitis (HP:0012384)7.75957436
7Dynein arm defect of respiratory motile cilia (HP:0012255)7.75442064
8Absent/shortened dynein arms (HP:0200106)7.75442064
9Short 4th metacarpal (HP:0010044)7.63493377
10Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)7.63493377
11Chronic bronchitis (HP:0004469)6.69902750
12Bronchiectasis (HP:0002110)5.56273359
13Nasal polyposis (HP:0100582)5.49000384
14Abnormality of the 4th metacarpal (HP:0010012)5.44708181
15Lip pit (HP:0100267)4.85348189
16Abnormality of the nasal mucosa (HP:0000433)4.33689524
17Microglossia (HP:0000171)4.31772133
18Male infertility (HP:0003251)3.51527470
19Infertility (HP:0000789)3.47389168
20Chin dimple (HP:0010751)3.44480580
21Hyperactive renin-angiotensin system (HP:0000841)3.39174280
22Intestinal atresia (HP:0011100)3.29623556
23Cutaneous finger syndactyly (HP:0010554)3.29247330
24Midline defect of the nose (HP:0004122)3.13215243
25Abnormality of the nasolacrimal system (HP:0000614)3.10511175
26Shallow orbits (HP:0000586)3.08710412
27Bronchitis (HP:0012387)3.03221898
28Atresia of the external auditory canal (HP:0000413)3.02767759
29Recurrent otitis media (HP:0000403)3.01506395
30Nasolacrimal duct obstruction (HP:0000579)2.96767748
31Abnormality of the distal phalanges of the toes (HP:0010182)2.89186014
32Congenital ichthyosiform erythroderma (HP:0007431)2.85709502
33Abnormality of the lacrimal duct (HP:0011481)2.84278063
34Periauricular skin pits (HP:0100277)2.83561928
35Preauricular pit (HP:0004467)2.83561928
36Oligodactyly (HP:0012165)2.80473845
37Cutaneous syndactyly (HP:0012725)2.79563870
38Thyroid-stimulating hormone excess (HP:0002925)2.78219001
39Anteriorly placed anus (HP:0001545)2.75502289
40Atelectasis (HP:0100750)2.75147982
41Renal hypoplasia (HP:0000089)2.73075556
42Aqueductal stenosis (HP:0002410)2.72994546
43Trigonocephaly (HP:0000243)2.69728628
44Abdominal situs inversus (HP:0003363)2.66076397
45Abnormality of abdominal situs (HP:0011620)2.66076397
46Renal duplication (HP:0000075)2.63917164
47Abnormality of the parietal bone (HP:0002696)2.62934783
48Pili torti (HP:0003777)2.62580131
49Anophthalmia (HP:0000528)2.60604780
50Hypoplasia of the maxilla (HP:0000327)2.59583665
51Septate vagina (HP:0001153)2.57984909
52Hypoplastic labia majora (HP:0000059)2.56147259
53Short clavicles (HP:0000894)2.50499235
54Wide cranial sutures (HP:0010537)2.49588185
55Popliteal pterygium (HP:0009756)2.48176765
56Occipital encephalocele (HP:0002085)2.41363097
57Mixed hearing impairment (HP:0000410)2.40671141
58Down-sloping shoulders (HP:0200021)2.36580109
59Chronic sinusitis (HP:0011109)2.36170559
60Limited hip movement (HP:0008800)2.33027324
61Abnormality of the salivary glands (HP:0010286)2.32084216
62Fibular hypoplasia (HP:0003038)2.31823911
63Mesomelia (HP:0003027)2.31550101
64Abnormal hair laboratory examination (HP:0003328)2.30474254
65Recurrent sinusitis (HP:0011108)2.30466212
66Increased nuchal translucency (HP:0010880)2.29522649
67Abnormality of the labia majora (HP:0012881)2.26492403
68Alopecia of scalp (HP:0002293)2.26217700
69Skin pits (HP:0100276)2.25673896
70Microtia (HP:0008551)2.25356679
71Esophageal atresia (HP:0002032)2.23648281
72Abnormality of the fingertips (HP:0001211)2.23486125
73Aplasia/Hypoplasia of the clavicles (HP:0006710)2.23333552
74Right ventricular cardiomyopathy (HP:0011663)2.21840989
75Facial cleft (HP:0002006)2.19602007
76Abnormality of the nasal septum (HP:0000419)2.19179305
77Preauricular skin tag (HP:0000384)2.17944637
78Hydroureter (HP:0000072)2.16711724
79Abnormality of nail color (HP:0100643)2.15685745
80Abnormality of the dental root (HP:0006486)2.15080545
81Taurodontia (HP:0000679)2.15080545
82Abnormality of permanent molar morphology (HP:0011071)2.15080545
83Oligodactyly (hands) (HP:0001180)2.14740618
84Wide anterior fontanel (HP:0000260)2.14570308
85Hyperkalemia (HP:0002153)2.14186577
86Abnormality of the antihelix (HP:0009738)2.12480877
87Short middle phalanx of the 5th finger (HP:0004220)2.11770383
88Cupped ear (HP:0000378)2.09518476
89Median cleft lip (HP:0000161)2.08839988
90Skin tags (HP:0010609)2.08595300
91Oral leukoplakia (HP:0002745)2.08277927
92Selective tooth agenesis (HP:0001592)2.08030919
93Renovascular hypertension (HP:0100817)2.05885715
94Double outlet right ventricle (HP:0001719)2.04388983
95Congenital malformation of the right heart (HP:0011723)2.04388983
96Flat face (HP:0012368)2.03882966
97Spinal cord compression (HP:0002176)2.03861159
98Onycholysis (HP:0001806)2.02943318
99Increased number of teeth (HP:0011069)2.02740086
100Abnormality of the parathyroid morphology (HP:0011766)2.02036985
101Volvulus (HP:0002580)1.98805880
102Absent frontal sinuses (HP:0002688)1.98651937
103Pulmonary artery stenosis (HP:0004415)1.98590979
104Dislocated radial head (HP:0003083)1.98518837
105Ankyloglossia (HP:0010296)1.97990235
106Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.97585572
107Hepatoblastoma (HP:0002884)1.97017876
108Atrophic scars (HP:0001075)1.96795621
109Gastrointestinal atresia (HP:0002589)1.96638754
110Dysmetric saccades (HP:0000641)1.96221366
111Anal stenosis (HP:0002025)1.95197062
112Chromosomal breakage induced by crosslinking agents (HP:0003221)1.94349037
113Abnormality of molar (HP:0011077)1.94269798
114Abnormality of molar morphology (HP:0011070)1.94269798
115Abnormality of the aortic arch (HP:0012303)1.91659470
116Asymmetry of the thorax (HP:0001555)1.91227292
117Broad toe (HP:0001837)1.90660210
118Abnormality of the phalanges of the hallux (HP:0010057)1.89901487
119Short tibia (HP:0005736)1.89641318
120Short palpebral fissure (HP:0012745)1.89586133
121Hyperthyroidism (HP:0000836)1.89272728
122Chromsome breakage (HP:0040012)1.89105037
123Cleft eyelid (HP:0000625)1.88901653
124Dental malocclusion (HP:0000689)1.88571933
125Flat acetabular roof (HP:0003180)1.88056982
126Tubulointerstitial nephritis (HP:0001970)1.87459272
127Broad metatarsal (HP:0001783)1.86606533
128Labial hypoplasia (HP:0000066)1.86533765
129Alacrima (HP:0000522)1.85744993
130Tracheomalacia (HP:0002779)1.84307807
131Microretrognathia (HP:0000308)1.84290236
132Abnormality of the dental pulp (HP:0006479)1.83927613
133Vesicoureteral reflux (HP:0000076)1.82611001
134Abnormality of the radial head (HP:0003995)1.82605790
135Omphalocele (HP:0001539)1.81731822
136Bell-shaped thorax (HP:0001591)1.81674055
137Limited elbow extension (HP:0001377)1.81310754
138Bifid scrotum (HP:0000048)1.81233987
139Aplasia/Hypoplasia of the tibia (HP:0005772)1.80442387
140Hip contracture (HP:0003273)1.80056695
141Abnormality of the diencephalon (HP:0010662)1.79800253
142Syringomyelia (HP:0003396)1.79624200
143Spinal cord lesions (HP:0100561)1.79624200
144Obsessive-compulsive behavior (HP:0000722)1.79528718
145Short nail (HP:0001799)1.79300908
146Abnormality of the phalanges of the 2nd finger (HP:0009541)1.79220462
147Disproportionate tall stature (HP:0001519)1.78912079
148Facial asymmetry (HP:0000324)1.78790083
149Abnormality of the phalanges of the 5th finger (HP:0004213)1.78364659
150Postaxial foot polydactyly (HP:0001830)1.78178055
151Renal salt wasting (HP:0000127)1.77893128
152Intellectual disability, moderate (HP:0002342)1.77608499
153Morphological abnormality of the middle ear (HP:0008609)1.77414736
154Buphthalmos (HP:0000557)1.75850404
155Supernumerary ribs (HP:0005815)1.75624363
156Flat cornea (HP:0007720)1.73828287
157Absent eyebrow (HP:0002223)1.73514194
158Furrowed tongue (HP:0000221)1.72850485
159Sparse eyelashes (HP:0000653)1.72391339
160Macroorchidism (HP:0000053)1.72318994
161Hypotrichosis (HP:0001006)1.70578665
162Self-mutilation (HP:0000742)1.69617074
163Decreased lacrimation (HP:0000633)1.69119985
164Renal dysplasia (HP:0000110)1.68514646
165Hypoparathyroidism (HP:0000829)1.68248700
166Distal lower limb muscle weakness (HP:0009053)1.66848061
167Absent eyelashes (HP:0000561)1.65257650
168Aplasia/Hypoplasia of the tongue (HP:0010295)1.63982612
169Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.60117225
170Sparse scalp hair (HP:0002209)1.58949611
171Trismus (HP:0000211)1.58590298
172Pancreatic fibrosis (HP:0100732)1.56064871
173Cystic liver disease (HP:0006706)1.53150844
174Hyperaldosteronism (HP:0000859)1.51204338
175* Oligodontia (HP:0000677)1.48856696
176Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.48521495
177Vascular calcification (HP:0004934)1.48304747
178Abnormality of the columella (HP:0009929)1.47401157
179Cone-rod dystrophy (HP:0000548)1.43729450
180Decreased circulating renin level (HP:0003351)1.42176717
181Nail dystrophy (HP:0008404)1.41861776
182Ureteral duplication (HP:0000073)1.41665377
183Abnormality of chloride homeostasis (HP:0011422)1.41624130
184True hermaphroditism (HP:0010459)1.40936216
185Corneal erosion (HP:0200020)1.39844255
186Hyponatremia (HP:0002902)1.39387645
187Tubular atrophy (HP:0000092)1.38721106
188Thick nail (HP:0001805)1.38039851

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA39.94058848
2EPHA25.73476032
3LATS14.04271600
4MST1R3.70739884
5ZAK3.61763213
6MST43.35510207
7TLK13.00773448
8TRIB32.68742846
9SMG12.68509942
10CDC72.49748909
11MAPKAPK32.34557934
12EPHB22.28085187
13VRK12.25748764
14MAP3K22.16495875
15DDR22.13677847
16MAP3K92.10058610
17ERBB32.08308006
18NME12.04430825
19IRAK32.03775323
20SIK12.02059607
21PBK1.84682235
22MAP3K31.81764334
23EIF2AK11.71147082
24NUAK11.69904514
25STK31.65336416
26STK241.59287877
27NME21.53121690
28PDGFRA1.48762611
29MKNK11.46268822
30ERN11.44844155
31ARAF1.43435950
32AKT31.40053795
33TTN1.33547334
34BUB11.28654322
35SRPK11.27411416
36PRKCI1.26461447
37FGFR21.23878082
38LRRK21.21847461
39ADRBK21.18748667
40CASK1.16903844
41RPS6KA51.14227543
42DMPK1.13427385
43NEK61.13286332
44PLK31.07218091
45CDK81.06961144
46PAK41.05441011
47FGFR11.03195585
48AURKA1.01601912
49ERBB21.01463266
50CDK61.00716344
51BRSK21.00484287
52CDK91.00125608
53MAP3K120.99839549
54MAP3K130.99825494
55MELK0.99540632
56PKN20.99337645
57TGFBR10.98717244
58SCYL20.96985983
59RPS6KA40.94671067
60STK380.92202022
61CHEK20.91504074
62CAMK1D0.89632265
63NEK20.89297595
64BRSK10.88579972
65PTK60.87728744
66EIF2AK20.87690943
67CAMK1G0.87646632
68BCR0.84293902
69MAP3K80.83844663
70WEE10.83820291
71CDK30.83691512
72BMPR1B0.82491198
73CSNK1A1L0.82088640
74MKNK20.82051991
75ATR0.81243984
76STK100.80956795
77EPHA40.79407632
78PNCK0.77829396
79ILK0.75775222
80EIF2AK30.73485773
81STK40.73197570
82DYRK1B0.70851781
83NTRK20.70130904
84FER0.69513525
85BRAF0.69510234
86ICK0.69006032
87BRD40.66973383
88FRK0.65010124
89PTK20.63302700
90ATM0.62954635
91PKN10.61359967
92CLK10.60206378
93LATS20.60044050
94PIK3CA0.59987097
95AURKB0.59924596
96CDK120.59883075
97STK38L0.58993712
98MTOR0.58940329
99PDK20.58931978
100IRAK10.58526302
101WNK10.57897819
102ADRBK10.57351708
103CSNK1G10.57160594
104EPHB10.56578468
105YES10.55868281
106PDGFRB0.50880211
107CDK70.49866402
108KSR20.49407561
109CDC42BPA0.47352632
110TTK0.46943912
111MET0.44773009
112CDK10.43410310
113SGK20.43386400
114PASK0.42448990
115PLK10.41524481
116CHUK0.40495080
117TESK10.39830534
118RET0.39591568
119RAF10.38473006
120TGFBR20.37640610
121MAP2K10.37364015
122RPS6KB10.37218854
123ROCK10.37027295
124MAPK110.36778572
125INSRR0.36669742
126HIPK20.36348966
127MARK20.36113627
128NTRK30.35356941
129FGFR30.35314798
130KSR10.35205825
131MAPK150.35146426
132TAOK10.35012154
133MAPKAPK50.34715454
134MAPK140.34331070
135DYRK30.34036467
136AKT10.33912770
137CHEK10.32740039
138PRKCE0.32275680
139PLK20.32223931
140RIPK10.32195719
141RPS6KB20.31614988
142CSNK1E0.31413999
143PDPK10.31212959
144MAPK80.30937944
145MAP3K70.30653643
146TSSK60.29730101
147CDK20.29335458
148TRPM70.29238041
149CSNK1G30.27936824
150MAPK10.26764333
151PAK10.26412081
152EEF2K0.26080146
153GSK3B0.26070757
154AKT20.25991272
155NEK90.25976498
156SGK10.25914225
157CAMK40.25065980
158IRAK20.24907993

Predicted pathways (KEGG)

RankGene SetZ-score
1Systemic lupus erythematosus_Homo sapiens_hsa053224.35356485
2Basal cell carcinoma_Homo sapiens_hsa052173.65158652
3Phenylalanine metabolism_Homo sapiens_hsa003603.60811753
4Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009803.00121512
5Alcoholism_Homo sapiens_hsa050342.88984549
6Tyrosine metabolism_Homo sapiens_hsa003502.74343541
7Hedgehog signaling pathway_Homo sapiens_hsa043402.51582676
8Axon guidance_Homo sapiens_hsa043602.28898348
9Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.27517027
10Chemical carcinogenesis_Homo sapiens_hsa052042.23968301
11Hippo signaling pathway_Homo sapiens_hsa043902.23781450
12Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.16689973
13Thyroid cancer_Homo sapiens_hsa052162.16285181
14Transcriptional misregulation in cancer_Homo sapiens_hsa052022.16271973
15Sphingolipid metabolism_Homo sapiens_hsa006002.06374238
16Adherens junction_Homo sapiens_hsa045201.95058483
17Histidine metabolism_Homo sapiens_hsa003401.94122856
18Cell cycle_Homo sapiens_hsa041101.94045513
19Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.91683050
20Wnt signaling pathway_Homo sapiens_hsa043101.90363241
21Glutathione metabolism_Homo sapiens_hsa004801.87624288
22TGF-beta signaling pathway_Homo sapiens_hsa043501.77330027
23MicroRNAs in cancer_Homo sapiens_hsa052061.75535493
24Base excision repair_Homo sapiens_hsa034101.73435731
25Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.72068085
26ECM-receptor interaction_Homo sapiens_hsa045121.71853120
27Viral carcinogenesis_Homo sapiens_hsa052031.68664375
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.67583187
29Nucleotide excision repair_Homo sapiens_hsa034201.67467922
30Proteoglycans in cancer_Homo sapiens_hsa052051.53766250
31Prostate cancer_Homo sapiens_hsa052151.51865082
32Huntingtons disease_Homo sapiens_hsa050161.49709438
33beta-Alanine metabolism_Homo sapiens_hsa004101.49363704
34Melanogenesis_Homo sapiens_hsa049161.48284911
35Small cell lung cancer_Homo sapiens_hsa052221.43874560
36Fanconi anemia pathway_Homo sapiens_hsa034601.42767536
37Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.38048535
38Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.37224507
39Focal adhesion_Homo sapiens_hsa045101.31079148
40Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.30319137
41HTLV-I infection_Homo sapiens_hsa051661.29874845
42Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.29651990
43ABC transporters_Homo sapiens_hsa020101.28372571
44Pathways in cancer_Homo sapiens_hsa052001.28309428
45RNA transport_Homo sapiens_hsa030131.27111664
46Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.25580180
47Colorectal cancer_Homo sapiens_hsa052101.24751246
48Steroid hormone biosynthesis_Homo sapiens_hsa001401.21130083
49Lysine degradation_Homo sapiens_hsa003101.21031334
50Cyanoamino acid metabolism_Homo sapiens_hsa004601.19042993
51Taste transduction_Homo sapiens_hsa047421.16798197
52Sulfur relay system_Homo sapiens_hsa041221.15750105
53Renin secretion_Homo sapiens_hsa049241.12647360
54Renin-angiotensin system_Homo sapiens_hsa046141.12220349
55Pyrimidine metabolism_Homo sapiens_hsa002401.11667582
56Retinol metabolism_Homo sapiens_hsa008301.11075464
57Pentose phosphate pathway_Homo sapiens_hsa000301.10360452
58Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.10280820
59Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.09104732
60Melanoma_Homo sapiens_hsa052181.07300802
61Chronic myeloid leukemia_Homo sapiens_hsa052201.04283664
62Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.99753559
63Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.97453598
64Circadian rhythm_Homo sapiens_hsa047100.96151952
65Drug metabolism - other enzymes_Homo sapiens_hsa009830.95167566
66AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.94538647
67p53 signaling pathway_Homo sapiens_hsa041150.94351115
68DNA replication_Homo sapiens_hsa030300.93740424
69Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.93084479
70Phosphatidylinositol signaling system_Homo sapiens_hsa040700.93075901
71Basal transcription factors_Homo sapiens_hsa030220.91256967
72Arginine biosynthesis_Homo sapiens_hsa002200.90459507
73Amphetamine addiction_Homo sapiens_hsa050310.89615961
74cGMP-PKG signaling pathway_Homo sapiens_hsa040220.88626787
75Notch signaling pathway_Homo sapiens_hsa043300.88036432
76Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.87773186
77Cysteine and methionine metabolism_Homo sapiens_hsa002700.87614107
78Dorso-ventral axis formation_Homo sapiens_hsa043200.86936512
79Rap1 signaling pathway_Homo sapiens_hsa040150.84742776
80Glioma_Homo sapiens_hsa052140.84034076
81Estrogen signaling pathway_Homo sapiens_hsa049150.83660146
82Hepatitis B_Homo sapiens_hsa051610.82876077
83Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.82144887
84Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79188815
85PI3K-Akt signaling pathway_Homo sapiens_hsa041510.79081221
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.78746743
87Pancreatic cancer_Homo sapiens_hsa052120.77899113
88Homologous recombination_Homo sapiens_hsa034400.76279205
89Endometrial cancer_Homo sapiens_hsa052130.76108246
90cAMP signaling pathway_Homo sapiens_hsa040240.75375970
91One carbon pool by folate_Homo sapiens_hsa006700.74924643
92Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.74725438
93Acute myeloid leukemia_Homo sapiens_hsa052210.73441106
94Dilated cardiomyopathy_Homo sapiens_hsa054140.73095702
95Mismatch repair_Homo sapiens_hsa034300.71645626
96Protein digestion and absorption_Homo sapiens_hsa049740.71187640
97TNF signaling pathway_Homo sapiens_hsa046680.70983525
98Cocaine addiction_Homo sapiens_hsa050300.70939701
99Tight junction_Homo sapiens_hsa045300.68823302
100Vascular smooth muscle contraction_Homo sapiens_hsa042700.68659140
101Insulin signaling pathway_Homo sapiens_hsa049100.66734084
102Herpes simplex infection_Homo sapiens_hsa051680.66246123
103Spliceosome_Homo sapiens_hsa030400.66059197
104Hepatitis C_Homo sapiens_hsa051600.65724187
105Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.65156439
106Inositol phosphate metabolism_Homo sapiens_hsa005620.64078473
107Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.63866420
108Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62521849
109Regulation of actin cytoskeleton_Homo sapiens_hsa048100.61933048
110Olfactory transduction_Homo sapiens_hsa047400.61829482
111Bladder cancer_Homo sapiens_hsa052190.61618911
112Amoebiasis_Homo sapiens_hsa051460.61606089
113ErbB signaling pathway_Homo sapiens_hsa040120.60958724
114Gap junction_Homo sapiens_hsa045400.60808332
115Viral myocarditis_Homo sapiens_hsa054160.59766065
116Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.58573022
117Toxoplasmosis_Homo sapiens_hsa051450.58104745
118mTOR signaling pathway_Homo sapiens_hsa041500.57933559
119FoxO signaling pathway_Homo sapiens_hsa040680.57790763
120Sulfur metabolism_Homo sapiens_hsa009200.57573653
121Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.56633701
122Purine metabolism_Homo sapiens_hsa002300.55953696
123Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.55934125
124Neurotrophin signaling pathway_Homo sapiens_hsa047220.55824142
125Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.55550858
126Renal cell carcinoma_Homo sapiens_hsa052110.54921155
127N-Glycan biosynthesis_Homo sapiens_hsa005100.54789608
128Central carbon metabolism in cancer_Homo sapiens_hsa052300.54546413
129Oocyte meiosis_Homo sapiens_hsa041140.53955546
130Ras signaling pathway_Homo sapiens_hsa040140.53585762
131Apoptosis_Homo sapiens_hsa042100.53291245
132Salivary secretion_Homo sapiens_hsa049700.52746997
133MAPK signaling pathway_Homo sapiens_hsa040100.51392556
134Fatty acid biosynthesis_Homo sapiens_hsa000610.51247651
135Circadian entrainment_Homo sapiens_hsa047130.51134848
136Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.50813483
137Biosynthesis of amino acids_Homo sapiens_hsa012300.50426099
138Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.50240809
139Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.50092910
140Pentose and glucuronate interconversions_Homo sapiens_hsa000400.50043397
141Ovarian steroidogenesis_Homo sapiens_hsa049130.49917812
142Pyruvate metabolism_Homo sapiens_hsa006200.49125183
143Starch and sucrose metabolism_Homo sapiens_hsa005000.49096711
144Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48940425
145mRNA surveillance pathway_Homo sapiens_hsa030150.48611155
146Type II diabetes mellitus_Homo sapiens_hsa049300.48290530
147Platelet activation_Homo sapiens_hsa046110.47519971
148NOD-like receptor signaling pathway_Homo sapiens_hsa046210.46374305
149Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.46311065
150Sphingolipid signaling pathway_Homo sapiens_hsa040710.46133725
151Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46080881
152AMPK signaling pathway_Homo sapiens_hsa041520.45426549
153Arginine and proline metabolism_Homo sapiens_hsa003300.44746380
154Choline metabolism in cancer_Homo sapiens_hsa052310.43877115
155Fructose and mannose metabolism_Homo sapiens_hsa000510.43667964
156NF-kappa B signaling pathway_Homo sapiens_hsa040640.43327016
157Aldosterone synthesis and secretion_Homo sapiens_hsa049250.40958132
158Non-small cell lung cancer_Homo sapiens_hsa052230.39856878
159Antigen processing and presentation_Homo sapiens_hsa046120.39194138
160Nicotine addiction_Homo sapiens_hsa050330.38426209
161Influenza A_Homo sapiens_hsa051640.37540261
162Calcium signaling pathway_Homo sapiens_hsa040200.37233522

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