PTCH2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1innate immune response in mucosa (GO:0002227)8.69895557
2mucosal immune response (GO:0002385)7.20718042
3antibacterial humoral response (GO:0019731)6.60382824
4organ or tissue specific immune response (GO:0002251)6.57166644
5natural killer cell mediated cytotoxicity (GO:0042267)6.38549204
6natural killer cell mediated immunity (GO:0002228)6.38549204
7regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)6.36083315
8negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)6.31728654
9protein heterotrimerization (GO:0070208)6.28814860
10antimicrobial humoral response (GO:0019730)6.22993626
11positive regulation of digestive system process (GO:0060456)6.03244769
12T cell mediated immunity (GO:0002456)5.82214178
13anatomical structure regression (GO:0060033)5.70878391
14nucleosome assembly (GO:0006334)5.58244493
15lateral sprouting from an epithelium (GO:0060601)5.40861908
16bone trabecula formation (GO:0060346)5.26122845
17planar cell polarity pathway involved in neural tube closure (GO:0090179)5.09954558
18regulation of gene silencing by RNA (GO:0060966)4.91937520
19regulation of posttranscriptional gene silencing (GO:0060147)4.91937520
20regulation of gene silencing by miRNA (GO:0060964)4.91937520
21regulation of cardiac muscle cell contraction (GO:0086004)4.87159512
22regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)4.71140327
23histone lysine demethylation (GO:0070076)4.67485796
24protein-DNA complex assembly (GO:0065004)4.66759377
25cardiac muscle hypertrophy in response to stress (GO:0014898)4.61543331
26muscle hypertrophy in response to stress (GO:0003299)4.61543331
27cardiac muscle adaptation (GO:0014887)4.61543331
28positive regulation of cardiac muscle hypertrophy (GO:0010613)4.49626356
29positive regulation of muscle hypertrophy (GO:0014742)4.49626356
30nucleosome organization (GO:0034728)4.48170557
31histone demethylation (GO:0016577)4.48158604
32hemidesmosome assembly (GO:0031581)4.47847093
33head development (GO:0060322)4.46793958
34establishment of apical/basal cell polarity (GO:0035089)4.46765415
35paraxial mesoderm development (GO:0048339)4.33318043
36positive regulation of cardiac muscle cell differentiation (GO:2000727)4.25243980
37cytolysis (GO:0019835)4.05873272
38striated muscle atrophy (GO:0014891)4.03348305
39striated muscle adaptation (GO:0014888)4.00891703
40lung-associated mesenchyme development (GO:0060484)3.93660501
41polarized epithelial cell differentiation (GO:0030859)3.89899670
42protein-DNA complex subunit organization (GO:0071824)3.85968325
43protein dealkylation (GO:0008214)3.85509596
44protein demethylation (GO:0006482)3.85509596
45epithelial cell differentiation involved in kidney development (GO:0035850)3.82867831
46establishment of monopolar cell polarity (GO:0061162)3.80289396
47establishment or maintenance of monopolar cell polarity (GO:0061339)3.80289396
48positive regulation of systemic arterial blood pressure (GO:0003084)3.79482687
49transcription elongation from RNA polymerase I promoter (GO:0006362)3.79410953
50regulation of megakaryocyte differentiation (GO:0045652)3.77687816
51negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)3.74142469
52outer ear morphogenesis (GO:0042473)3.73774232
53regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.73379545
54regulation of actin filament-based movement (GO:1903115)3.72104226
55digestive tract morphogenesis (GO:0048546)3.72100839
56muscle atrophy (GO:0014889)3.71339607
57eyelid development in camera-type eye (GO:0061029)3.70559883
58proximal/distal pattern formation (GO:0009954)3.69722787
59cardiac muscle hypertrophy (GO:0003300)3.66545798
60negative regulation of systemic arterial blood pressure (GO:0003085)3.65745525
61pyrimidine dimer repair (GO:0006290)3.65686336
62negative regulation of peptidyl-lysine acetylation (GO:2000757)3.61684413
63replicative senescence (GO:0090399)3.61179863
64embryonic camera-type eye development (GO:0031076)3.58044059
65non-canonical Wnt signaling pathway (GO:0035567)3.55463703
66peptidyl-lysine dimethylation (GO:0018027)3.51987221
67heparin metabolic process (GO:0030202)3.50476068
68heparin biosynthetic process (GO:0030210)3.50476068
69apoptotic process involved in morphogenesis (GO:0060561)3.47711636
70positive regulation of receptor biosynthetic process (GO:0010870)3.44461279
71labyrinthine layer development (GO:0060711)3.43917004
72striated muscle hypertrophy (GO:0014897)3.43055200
73cell proliferation involved in metanephros development (GO:0072203)3.43022504
74regulation of hippo signaling (GO:0035330)3.42782636
75* molting cycle (GO:0042303)3.36525025
76* hair cycle (GO:0042633)3.36525025
77craniofacial suture morphogenesis (GO:0097094)3.36252230
78regulation of somitogenesis (GO:0014807)3.35643704
79nuclear pore organization (GO:0006999)3.30436715
80convergent extension (GO:0060026)3.29567969
81tooth mineralization (GO:0034505)3.29015485
82regulation of muscle hypertrophy (GO:0014743)3.27202562
83cranial suture morphogenesis (GO:0060363)3.26848419
84positive regulation of cardiac muscle tissue growth (GO:0055023)3.26651954
85leukocyte mediated cytotoxicity (GO:0001909)3.23404436
86skeletal muscle adaptation (GO:0043501)3.23227390
87cell proliferation involved in kidney development (GO:0072111)3.22983260
88nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)3.22970983
89renal system development (GO:0072001)3.21755372
90negative regulation of chondrocyte differentiation (GO:0032331)3.21524742
91negative regulation of cartilage development (GO:0061037)3.18365842
92nuclear pore complex assembly (GO:0051292)3.17492396
93anterior/posterior axis specification, embryo (GO:0008595)3.17125542
94Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.16477604
95cochlea morphogenesis (GO:0090103)3.15402239
96CENP-A containing nucleosome assembly (GO:0034080)3.15389812
97pre-miRNA processing (GO:0031054)3.15078914
98negative regulation of multicellular organism growth (GO:0040015)3.09526580
99mesenchymal cell proliferation (GO:0010463)3.09463900
100establishment of planar polarity (GO:0001736)3.08990715
101establishment of tissue polarity (GO:0007164)3.08990715
102muscle adaptation (GO:0043500)3.08644085
103epithelial cell fate commitment (GO:0072148)3.06608672
104regulation of cardiac muscle hypertrophy (GO:0010611)3.05886361
105positive regulation of SMAD protein import into nucleus (GO:0060391)3.05059653
106G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.04457866
107muscle hypertrophy (GO:0014896)3.03372343
108regulation of establishment of planar polarity (GO:0090175)3.01263592
109hindlimb morphogenesis (GO:0035137)3.00251372
110forebrain neuron development (GO:0021884)2.99736452
111desmosome organization (GO:0002934)2.99591069
112branching involved in salivary gland morphogenesis (GO:0060445)2.97754700
113epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.96216224
114regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.95229487
115pituitary gland development (GO:0021983)2.95173840
116collagen catabolic process (GO:0030574)2.95013965
117positive regulation of transcription from RNA polymerase III promoter (GO:0045945)2.94870817
118positive regulation of cation channel activity (GO:2001259)2.94869025
119regulation of histone H3-K9 methylation (GO:0051570)2.94412432
120mesenchyme morphogenesis (GO:0072132)2.94181263
121plasma membrane repair (GO:0001778)2.94147232
122adrenergic receptor signaling pathway (GO:0071875)2.93457536
123chromatin assembly or disassembly (GO:0006333)2.92991220
124collagen metabolic process (GO:0032963)2.92325534
125negative regulation of Ras GTPase activity (GO:0034261)2.91027225
126positive regulation of cAMP-mediated signaling (GO:0043950)2.90723708
127DNA replication-dependent nucleosome organization (GO:0034723)2.89889551
128DNA replication-dependent nucleosome assembly (GO:0006335)2.89889551
129embryonic camera-type eye morphogenesis (GO:0048596)2.89786494
130embryonic hindlimb morphogenesis (GO:0035116)2.89328619
131heterochromatin organization (GO:0070828)2.89209749
132protein localization to kinetochore (GO:0034501)2.88808933
133tryptophan metabolic process (GO:0006568)2.88796094
134regulation of SMAD protein import into nucleus (GO:0060390)2.87739076
135chromatin remodeling at centromere (GO:0031055)2.87661757
136defense response to Gram-positive bacterium (GO:0050830)2.86881901
137apoptotic process involved in development (GO:1902742)2.84720189
138endodermal cell differentiation (GO:0035987)2.84489825
139positive regulation of smoothened signaling pathway (GO:0045880)2.83911534
140basement membrane organization (GO:0071711)2.83101634
141pore complex assembly (GO:0046931)2.83029184
142monoubiquitinated protein deubiquitination (GO:0035520)2.79566248
143chromatin assembly (GO:0031497)2.78942566
144DNA unwinding involved in DNA replication (GO:0006268)2.78521841
145regulation of translational fidelity (GO:0006450)2.78456070
146glycogen catabolic process (GO:0005980)2.78345800
147histone exchange (GO:0043486)2.77554008
148CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)2.76816676
149T-helper cell differentiation (GO:0042093)2.76816676
150regulation of lipoprotein particle clearance (GO:0010984)2.76130856
151negative regulation of smooth muscle contraction (GO:0045986)2.75485225
152negative regulation of protein acetylation (GO:1901984)2.75372811
153multicellular organismal macromolecule metabolic process (GO:0044259)2.74894356
154negative regulation of catenin import into nucleus (GO:0035414)2.74859210
155morphogenesis of embryonic epithelium (GO:0016331)2.74423297
156positive regulation of heart rate (GO:0010460)2.74369169
157negative regulation of cell fate specification (GO:0009996)2.71858128
158bundle of His cell to Purkinje myocyte communication (GO:0086069)2.71684558
159regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901212.70631421
160extracellular fibril organization (GO:0043206)2.70521815
161positive regulation of heart growth (GO:0060421)2.69253411
162regulation of hair follicle development (GO:0051797)2.69090847
163neural tube closure (GO:0001843)2.67843658
164multicellular organismal catabolic process (GO:0044243)2.67668728
165tube closure (GO:0060606)2.67657073
166regulation of hematopoietic progenitor cell differentiation (GO:1901532)2.66876687
167tyrosine metabolic process (GO:0006570)2.66591134
168face development (GO:0060324)2.64977389
169positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)2.63111486
170interkinetic nuclear migration (GO:0022027)2.62818650
171cell surface receptor signaling pathway involved in heart development (GO:0061311)2.62781677
172negative regulation of androgen receptor signaling pathway (GO:0060766)2.62037293
173extracellular matrix assembly (GO:0085029)2.61509601
174regulation of gastrulation (GO:0010470)2.61289867
175negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.61138142
176intracellular estrogen receptor signaling pathway (GO:0030520)2.59752608
177multicellular organismal metabolic process (GO:0044236)2.58554060
178regulation of gene silencing (GO:0060968)2.57125105
179morphogenesis of an epithelial fold (GO:0060571)2.56720282
180mitotic sister chromatid segregation (GO:0000070)2.56665199
181hair follicle development (GO:0001942)2.56399626
182bone morphogenesis (GO:0060349)2.55960746
183negative regulation of DNA repair (GO:0045738)2.55854744
184wound healing, spreading of epidermal cells (GO:0035313)2.52892351
185embryonic skeletal joint morphogenesis (GO:0060272)2.49489765
186somatic hypermutation of immunoglobulin genes (GO:0016446)2.48189350
187somatic diversification of immune receptors via somatic mutation (GO:0002566)2.48189350
188negative regulation of embryonic development (GO:0045992)2.47741429
189dorsal/ventral axis specification (GO:0009950)2.47354291
190histone H4-K12 acetylation (GO:0043983)2.46499842

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse8.16722713
2TP63_17297297_ChIP-ChIP_HaCaT_Human6.26229928
3E2F7_22180533_ChIP-Seq_HELA_Human5.71085443
4HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse5.31860435
5KLF4_18264089_ChIP-ChIP_MESCs_Mouse4.32631580
6KLF2_18264089_ChIP-ChIP_MESCs_Mouse4.32631580
7KLF5_18264089_ChIP-ChIP_MESCs_Mouse4.32631580
8FOXM1_23109430_ChIP-Seq_U2OS_Human3.77909092
9EGR1_23403033_ChIP-Seq_LIVER_Mouse3.36053475
10* SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.19483353
11STAT6_21828071_ChIP-Seq_BEAS2B_Human3.04036126
12ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.77926783
13SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.77201727
14* POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.55333072
15NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.47807948
16GATA1_22025678_ChIP-Seq_K562_Human2.41431830
17TCF3_18692474_ChIP-Seq_MEFs_Mouse2.31288736
18MYC_19079543_ChIP-ChIP_MESCs_Mouse2.27667503
19ZFP281_18757296_ChIP-ChIP_E14_Mouse2.21410102
20RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.19133584
21ZNF263_19887448_ChIP-Seq_K562_Human2.17823261
22MYC_18555785_ChIP-Seq_MESCs_Mouse2.12213140
23ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.08991568
24NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.02479099
25SALL1_21062744_ChIP-ChIP_HESCs_Human2.00510100
26EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.00373653
27FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse19.3379559
28TCF3_18692474_ChIP-Seq_MESCs_Mouse1.99551950
29NANOG_18555785_ChIP-Seq_MESCs_Mouse1.95861293
30E2F4_17652178_ChIP-ChIP_JURKAT_Human1.93944349
31ZFP281_27345836_Chip-Seq_ESCs_Mouse1.88485276
32SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.88353351
33TP63_19390658_ChIP-ChIP_HaCaT_Human1.87465080
34FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.85786225
35* SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.81275332
36SOX2_18555785_ChIP-Seq_MESCs_Mouse1.74540868
37POU5F1_16518401_ChIP-PET_MESCs_Mouse1.69854122
38KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.64564485
39MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.62957821
40* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.60484080
41NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.55110200
42NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.51283555
43TP53_16413492_ChIP-PET_HCT116_Human1.50780745
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.48048108
45TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.44866785
46KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.44550625
47STAT3_1855785_ChIP-Seq_MESCs_Mouse1.42555514
48HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.41506640
49TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.38551670
50* POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.38393268
51MYC_19030024_ChIP-ChIP_MESCs_Mouse1.37111739
52CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.35890724
53POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.33981199
54WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.31351241
55MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.30866223
56TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.29079950
57HIF1A_21447827_ChIP-Seq_MCF-7_Human1.28549883
58TP53_20018659_ChIP-ChIP_R1E_Mouse1.28408635
59TRIM28_21343339_ChIP-Seq_HEK293_Human1.27325282
60HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.25729013
61ESR1_15608294_ChIP-ChIP_MCF-7_Human1.25162118
62MYC_22102868_ChIP-Seq_BL_Human1.24248215
63* SOX2_18692474_ChIP-Seq_MESCs_Mouse1.24024813
64AR_21909140_ChIP-Seq_LNCAP_Human1.23574948
65VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.21890456
66* SOX2_18692474_ChIP-Seq_MEFs_Mouse1.21348879
67ELK3_25401928_ChIP-Seq_HUVEC_Human1.20942030
68CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.20554604
69* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.19680100
70* LXR_22292898_ChIP-Seq_THP-1_Human1.18192719
71EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.17959489
72* KDM2B_26808549_Chip-Seq_K562_Human1.17396615
73CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.15794390
74RACK7_27058665_Chip-Seq_MCF-7_Human1.15141483
75KDM2B_26808549_Chip-Seq_DND41_Human1.15121977
76PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.14941746
77SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.14619744
78NANOG_18692474_ChIP-Seq_MEFs_Mouse1.13632383
79NANOG_18692474_ChIP-Seq_MESCs_Mouse1.13062472
80* NANOG_21062744_ChIP-ChIP_HESCs_Human1.12993489
81KDM2B_26808549_Chip-Seq_SUP-B15_Human1.12534654
82RING1B_27294783_Chip-Seq_NPCs_Mouse1.11346256
83ISL1_27105846_Chip-Seq_CPCs_Mouse1.09781456
84KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.09201797
85NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.07763047
86POU5F1_16153702_ChIP-ChIP_HESCs_Human1.07204870
87EGR1_19374776_ChIP-ChIP_THP-1_Human1.07163165
88PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.06392047
89TBX3_20139965_ChIP-Seq_ESCs_Mouse1.05814633
90TBX3_20139965_ChIP-Seq_MESCs_Mouse1.05467621
91POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.04121239
92OCT4_18692474_ChIP-Seq_MEFs_Mouse1.04080587
93RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.03157122
94* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.02643780
95SOX9_24532713_ChIP-Seq_HFSC_Mouse1.01950802
96AHR_22903824_ChIP-Seq_MCF-7_Human1.01625074
97SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.00488224
98TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00228198
99EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.00112070
100* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.99982940
101IRF1_19129219_ChIP-ChIP_H3396_Human0.99676855
102DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.99341479
103CTCF_27219007_Chip-Seq_Bcells_Human0.98930048
104SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.98782302
105POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.98713805
106DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.96839464
107E2F1_21310950_ChIP-Seq_MCF-7_Human0.96823225
108RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.96746686
109NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.94401603
110AR_21572438_ChIP-Seq_LNCaP_Human0.94401056
111NANOG_16153702_ChIP-ChIP_HESCs_Human0.94253161
112KDM2B_26808549_Chip-Seq_JURKAT_Human0.94109078
113NELFA_20434984_ChIP-Seq_ESCs_Mouse0.93665094
114* XRN2_22483619_ChIP-Seq_HELA_Human0.92746676
115TCF7_22412390_ChIP-Seq_EML_Mouse0.91673823
116ZNF217_24962896_ChIP-Seq_MCF-7_Human0.91545203
117SOX2_16153702_ChIP-ChIP_HESCs_Human0.91411723
118PADI4_21655091_ChIP-ChIP_MCF-7_Human0.90325777
119PKCTHETA_26484144_Chip-Seq_BREAST_Human0.86886282
120ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.85858647
121SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.85356158
122SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.84839909
123SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.84839909
124RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.84234990
125ESR1_20079471_ChIP-ChIP_T-47D_Human0.81328511
126ETS1_22383799_ChIP-Seq_G1ME_Mouse0.79947487
127CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.78832261
128ERG_20887958_ChIP-Seq_HPC-7_Mouse0.77019859
129TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.76569086
130STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.74186125
131TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.70456577
132ELK1_19687146_ChIP-ChIP_HELA_Human0.70205668
133FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.67861682
134ARNT_22903824_ChIP-Seq_MCF-7_Human0.66307067
135IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.65368747
136VDR_23849224_ChIP-Seq_CD4+_Human0.63532594
137ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.62607076
138SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.62306910
139DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.60657969
140SCL_19346495_ChIP-Seq_HPC-7_Human0.59957662
141PPAR_26484153_Chip-Seq_NCI-H1993_Human0.59343203
142STAT4_19710469_ChIP-ChIP_TH1__Mouse0.55920108
143ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.55069424
144FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.54836067
145GATA6_25053715_ChIP-Seq_YYC3_Human0.54656209
146FUS_26573619_Chip-Seq_HEK293_Human0.53347212
147SALL4_22934838_ChIP-ChIP_CD34+_Human0.51850210
148EWS_26573619_Chip-Seq_HEK293_Human0.51303508
149NOTCH1_21737748_ChIP-Seq_TLL_Human0.51119221
150SOX9_26525672_Chip-Seq_HEART_Mouse0.49890198
151CIITA_25753668_ChIP-Seq_RAJI_Human0.49280637
152AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.47707475
153BRD4_27068464_Chip-Seq_AML-cells_Mouse0.47400888
154UBF1/2_26484160_Chip-Seq_HMECs_Human0.46624197
155IGF1R_20145208_ChIP-Seq_DFB_Human0.46390621
156PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.45619338
157HOXB4_20404135_ChIP-ChIP_EML_Mouse0.45379040
158PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.45257659
159FOXM1_26456572_ChIP-Seq_MCF-7_Human0.44915798
160ESR2_21235772_ChIP-Seq_MCF-7_Human0.44067590
161FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.43531065
162MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.42834265
163GATA3_24758297_ChIP-Seq_MCF-7_Human0.40855484
164STAT3_23295773_ChIP-Seq_U87_Human0.40697438
165VDR_21846776_ChIP-Seq_THP-1_Human0.39427147
166RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.38700758
167BRD4_25478319_ChIP-Seq_HGPS_Human0.38570916
168RUNX1_27514584_Chip-Seq_MCF-7_Human0.37794066
169TP53_18474530_ChIP-ChIP_U2OS_Human0.37732318
170SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.37730565
171MYC_18940864_ChIP-ChIP_HL60_Human0.37443501
172EED_16625203_ChIP-ChIP_MESCs_Mouse0.36760798
173KDM5A_27292631_Chip-Seq_BREAST_Human0.36104429
174CTNNB1_20460455_ChIP-Seq_HCT116_Human0.35496765

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005083_abnormal_biliary_tract4.75608811
2MP0000569_abnormal_digit_pigmentation4.74899718
3MP0005171_absent_coat_pigmentation4.21859007
4MP0005645_abnormal_hypothalamus_physiol4.06769780
5MP0000579_abnormal_nail_morphology3.94140444
6MP0005275_abnormal_skin_tensile3.78364567
7MP0008438_abnormal_cutaneous_collagen3.65081433
8MP0010030_abnormal_orbit_morphology3.51353573
9MP0003705_abnormal_hypodermis_morpholog3.48289525
10MP0002009_preneoplasia3.41388859
11MP0000003_abnormal_adipose_tissue3.16922061
12MP0009697_abnormal_copulation2.34505248
13MP0003950_abnormal_plasma_membrane2.33326106
14MP0004272_abnormal_basement_membrane2.26537074
15MP0000762_abnormal_tongue_morphology2.23688665
16MP0002060_abnormal_skin_morphology2.19914457
17MP0002166_altered_tumor_susceptibility2.13240663
18MP0005503_abnormal_tendon_morphology2.12666033
19MP0002249_abnormal_larynx_morphology2.12469878
20MP0002098_abnormal_vibrissa_morphology2.08215156
21* MP0001243_abnormal_dermal_layer2.04193354
22MP0002971_abnormal_brown_adipose2.00934665
23MP0000462_abnormal_digestive_system2.00213720
24MP0000537_abnormal_urethra_morphology1.95974055
25MP0003959_abnormal_lean_body1.92302942
26MP0002796_impaired_skin_barrier1.89419058
27MP0009053_abnormal_anal_canal1.89201768
28MP0000383_abnormal_hair_follicle1.85049324
29MP0005076_abnormal_cell_differentiation1.81716311
30MP0003119_abnormal_digestive_system1.81401893
31MP0004185_abnormal_adipocyte_glucose1.79610790
32MP0004134_abnormal_chest_morphology1.79132369
33MP0003123_paternal_imprinting1.74928094
34MP0000647_abnormal_sebaceous_gland1.71415240
35MP0002160_abnormal_reproductive_system1.71135714
36MP0005375_adipose_tissue_phenotype1.70625378
37MP0003941_abnormal_skin_development1.69486492
38MP0003283_abnormal_digestive_organ1.68620343
39MP0004133_heterotaxia1.63831068
40MP0000427_abnormal_hair_cycle1.62645207
41MP0002282_abnormal_trachea_morphology1.58908573
42MP0003763_abnormal_thymus_physiology1.58025311
43MP0003385_abnormal_body_wall1.57677577
44MP0009115_abnormal_fat_cell1.56272356
45MP0004197_abnormal_fetal_growth/weight/1.51428001
46MP0000566_synostosis1.50621305
47MP0003111_abnormal_nucleus_morphology1.50326325
48MP0000049_abnormal_middle_ear1.50241716
49MP0005257_abnormal_intraocular_pressure1.49387518
50MP0003115_abnormal_respiratory_system1.47888816
51MP0002006_tumorigenesis1.47380594
52MP0010678_abnormal_skin_adnexa1.45882179
53MP0000467_abnormal_esophagus_morphology1.45879276
54MP0003755_abnormal_palate_morphology1.44743027
55MP0000428_abnormal_craniofacial_morphol1.44228670
56MP0001849_ear_inflammation1.44046492
57MP0001764_abnormal_homeostasis1.42497521
58MP0008057_abnormal_DNA_replication1.39362699
59MP0004957_abnormal_blastocyst_morpholog1.39257033
60MP0002396_abnormal_hematopoietic_system1.37537214
61MP0010234_abnormal_vibrissa_follicle1.36782718
62MP0009384_cardiac_valve_regurgitation1.35985414
63MP0001293_anophthalmia1.35015106
64MP0002234_abnormal_pharynx_morphology1.34399733
65MP0005623_abnormal_meninges_morphology1.33277734
66MP0010094_abnormal_chromosome_stability1.32849118
67MP0000371_diluted_coat_color1.32582906
68MP0000377_abnormal_hair_follicle1.31592397
69MP0002085_abnormal_embryonic_tissue1.31360896
70MP0006054_spinal_hemorrhage1.30976756
71MP0002332_abnormal_exercise_endurance1.29570744
72MP0005501_abnormal_skin_physiology1.28100378
73MP0002932_abnormal_joint_morphology1.27943156
74MP0005409_darkened_coat_color1.26518050
75MP0001958_emphysema1.25819411
76MP0003786_premature_aging1.25632077
77MP0000432_abnormal_head_morphology1.25119103
78MP0002084_abnormal_developmental_patter1.24418893
79MP0003935_abnormal_craniofacial_develop1.24314316
80MP0002111_abnormal_tail_morphology1.24207900
81MP0002653_abnormal_ependyma_morphology1.20669486
82MP0003122_maternal_imprinting1.20623413
83MP0001340_abnormal_eyelid_morphology1.19976655
84MP0005508_abnormal_skeleton_morphology1.19409514
85MP0002938_white_spotting1.18247701
86MP0002116_abnormal_craniofacial_bone1.17944955
87* MP0001216_abnormal_epidermal_layer1.17749998
88MP0000747_muscle_weakness1.16481083
89MP0003937_abnormal_limbs/digits/tail_de1.15186123
90MP0010771_integument_phenotype1.14740038
91MP0001661_extended_life_span1.14595224
92MP0003942_abnormal_urinary_system1.11732820
93MP0005248_abnormal_Harderian_gland1.10927978
94MP0001730_embryonic_growth_arrest1.10593303
95MP0001191_abnormal_skin_condition1.09709335
96MP0000350_abnormal_cell_proliferation1.08033235
97MP0002269_muscular_atrophy1.08020147
98MP0005670_abnormal_white_adipose1.06721874
99MP0005380_embryogenesis_phenotype1.06355058
100MP0001672_abnormal_embryogenesis/_devel1.06355058
101MP0002108_abnormal_muscle_morphology1.05603414
102MP0000733_abnormal_muscle_development1.04589478
103MP0003121_genomic_imprinting1.03573652
104MP0000678_abnormal_parathyroid_gland1.00914960
105MP0003077_abnormal_cell_cycle1.00681278
106MP0000372_irregular_coat_pigmentation1.00674884
107MP0002138_abnormal_hepatobiliary_system1.00127779
108MP0000516_abnormal_urinary_system0.99990633
109MP0005367_renal/urinary_system_phenotyp0.99990633
110MP0002697_abnormal_eye_size0.99798650
111MP0005389_reproductive_system_phenotype0.99760298
112MP0005334_abnormal_fat_pad0.99208719
113MP0010352_gastrointestinal_tract_polyps0.98423881
114MP0003693_abnormal_embryo_hatching0.97713187
115MP0003279_aneurysm0.97238705
116MP0009250_abnormal_appendicular_skeleto0.95713344
117MP0004264_abnormal_extraembryonic_tissu0.95560889
118MP0003868_abnormal_feces_composition0.95507241
119MP0000534_abnormal_ureter_morphology0.95341254
120MP0002086_abnormal_extraembryonic_tissu0.94415068
121MP0005187_abnormal_penis_morphology0.94253868
122MP0010307_abnormal_tumor_latency0.93584873
123MP0002295_abnormal_pulmonary_circulatio0.91678506
124MP0002254_reproductive_system_inflammat0.90517826
125MP0002114_abnormal_axial_skeleton0.90341930
126MP0001697_abnormal_embryo_size0.90182789
127MP0003984_embryonic_growth_retardation0.90176541
128MP0005388_respiratory_system_phenotype0.90067188
129MP0002133_abnormal_respiratory_system0.90067188
130MP0003890_abnormal_embryonic-extraembry0.89998888
131MP0002109_abnormal_limb_morphology0.89867818
132MP0002088_abnormal_embryonic_growth/wei0.89748182
133MP0001177_atelectasis0.88847879
134MP0003315_abnormal_perineum_morphology0.88507208
135MP0002092_abnormal_eye_morphology0.88064304
136MP0004381_abnormal_hair_follicle0.87888603
137MP0003861_abnormal_nervous_system0.87351688
138MP0002233_abnormal_nose_morphology0.87297582
139MP0002896_abnormal_bone_mineralization0.86360080
140MP0001346_abnormal_lacrimal_gland0.84383765
141MP0001286_abnormal_eye_development0.83577949
142MP0001879_abnormal_lymphatic_vessel0.83417293
143MP0008932_abnormal_embryonic_tissue0.82521563
144MP0003453_abnormal_keratinocyte_physiol0.82370966
145MP0002933_joint_inflammation0.81260345
146MP0000358_abnormal_cell_content/0.77039033
147MP0002163_abnormal_gland_morphology0.74938757
148MP0001348_abnormal_lacrimal_gland0.72593287
149MP0008058_abnormal_DNA_repair0.72499498
150MP0002089_abnormal_postnatal_growth/wei0.71832538
151MP0005379_endocrine/exocrine_gland_phen0.66687896
152MP0000639_abnormal_adrenal_gland0.65614324
153MP0004808_abnormal_hematopoietic_stem0.62029346
154MP0005666_abnormal_adipose_tissue0.61008038
155MP0001270_distended_abdomen0.59937126
156MP0002075_abnormal_coat/hair_pigmentati0.59428534
157* MP0000367_abnormal_coat/_hair0.58641718
158MP0001299_abnormal_eye_distance/0.58625008
159MP0004036_abnormal_muscle_relaxation0.58582016
160MP0001666_abnormal_nutrient_absorption0.58073616
161MP0000163_abnormal_cartilage_morphology0.57632523
162MP0001929_abnormal_gametogenesis0.55902301
163MP0003183_abnormal_peptide_metabolism0.55851546
164MP0002735_abnormal_chemical_nociception0.54593779
165MP0005410_abnormal_fertilization0.54500090
166MP0002970_abnormal_white_adipose0.52265154
167MP0001145_abnormal_male_reproductive0.52157034

Predicted human phenotypes

RankGene SetZ-score
1Atrophic scars (HP:0001075)5.37505524
2Abnormality of the renal collecting system (HP:0004742)5.32391296
3* Milia (HP:0001056)5.18431777
4Duplicated collecting system (HP:0000081)4.78680574
5Ankle contracture (HP:0006466)4.50667784
6Fragile skin (HP:0001030)4.43112390
7Prominent nose (HP:0000448)4.22686418
8Follicular hyperkeratosis (HP:0007502)4.22301384
9Oral leukoplakia (HP:0002745)4.02301581
10Premature rupture of membranes (HP:0001788)3.86911435
11Abnormality of DNA repair (HP:0003254)3.82361977
12Ankyloglossia (HP:0010296)3.73298692
13Cerebellar dysplasia (HP:0007033)3.70826136
14IgA deficiency (HP:0002720)3.56137396
15Hypotrichosis (HP:0001006)3.55340791
16Abnormal auditory evoked potentials (HP:0006958)3.51652719
17Type 1 muscle fiber predominance (HP:0003803)3.48822427
18Broad ribs (HP:0000885)3.48014414
19Chromosomal breakage induced by crosslinking agents (HP:0003221)3.40689827
20Selective tooth agenesis (HP:0001592)3.37731877
21Slender build (HP:0001533)3.37488918
22Increased connective tissue (HP:0009025)3.36306248
23Abnormal number of incisors (HP:0011064)3.33066016
24Protrusio acetabuli (HP:0003179)3.32644789
25Hypoplasia of the pons (HP:0012110)3.32050139
26Shallow orbits (HP:0000586)3.29968310
27Bladder diverticulum (HP:0000015)3.29289552
28* Abnormality of the parietal bone (HP:0002696)3.25043580
29* Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.21817333
30* Short 4th metacarpal (HP:0010044)3.21817333
31Abnormality of the pons (HP:0007361)3.15730361
32Concave nail (HP:0001598)3.10627660
33Entropion (HP:0000621)3.10350705
34Renovascular hypertension (HP:0100817)3.08153094
35Ureteral duplication (HP:0000073)3.06282066
36Pili torti (HP:0003777)3.04797787
37Sensory axonal neuropathy (HP:0003390)3.03170937
38Hypoplastic pelvis (HP:0008839)3.02031046
39Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)3.00138801
40Woolly hair (HP:0002224)2.95841216
41Chromsome breakage (HP:0040012)2.95226171
42Narrow palate (HP:0000189)2.93461576
43Renal duplication (HP:0000075)2.89669746
44Decreased lacrimation (HP:0000633)2.88547454
45Arterial tortuosity (HP:0005116)2.85583309
46Fragile nails (HP:0001808)2.84802661
47Malnutrition (HP:0004395)2.79040123
48Alopecia of scalp (HP:0002293)2.75455157
49Abnormality of the diencephalon (HP:0010662)2.75361863
50Abnormality of the epiphyses of the hand (HP:0005924)2.74121700
51Absent eyelashes (HP:0000561)2.72217803
52Sloping forehead (HP:0000340)2.71055373
53Abnormality involving the epiphyses of the upper limbs (HP:0003839)2.67519615
54Abnormality of chromosome stability (HP:0003220)2.66286841
55Abnormality of oral frenula (HP:0000190)2.66282477
56Spinal rigidity (HP:0003306)2.63475830
57Abnormality of the proximal phalanges of the hand (HP:0009834)2.61002597
58Hyperacusis (HP:0010780)2.58942873
59Mildly elevated creatine phosphokinase (HP:0008180)2.58239853
60Abnormality of the preputium (HP:0100587)2.53956513
61Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.52452694
62Death in childhood (HP:0003819)2.50496242
63Abnormality of the carotid arteries (HP:0005344)2.47950113
64Abnormality of nail color (HP:0100643)2.45767407
65Overriding aorta (HP:0002623)2.44639492
66Flat acetabular roof (HP:0003180)2.43402331
67Bowel diverticulosis (HP:0005222)2.41423541
68Genu recurvatum (HP:0002816)2.41235231
69Cerebral aneurysm (HP:0004944)2.39823744
70Colitis (HP:0002583)2.39541862
71* Supernumerary ribs (HP:0005815)2.38544196
72* Medulloblastoma (HP:0002885)2.37027743
73Insidious onset (HP:0003587)2.36018435
74Termporal pattern (HP:0011008)2.36018435
75Turricephaly (HP:0000262)2.35247269
76Soft skin (HP:0000977)2.35132872
77* Neoplasm of the oral cavity (HP:0100649)2.34296896
78Peritonitis (HP:0002586)2.34150849
79Hypoplasia of the iris (HP:0007676)2.33731412
80Midline defect of the nose (HP:0004122)2.33557987
81Mild short stature (HP:0003502)2.33356765
82Anomalous pulmonary venous return (HP:0010772)2.32947716
83Increased serum ferritin (HP:0003281)2.32201082
84Sparse lateral eyebrow (HP:0005338)2.31868359
85* Abnormality of the 4th metacarpal (HP:0010012)2.31176896
86Squamous cell carcinoma (HP:0002860)2.29987291
87Heterotopia (HP:0002282)2.29738287
88Nail dystrophy (HP:0008404)2.29666545
89Syringomyelia (HP:0003396)2.29327629
90Spinal cord lesions (HP:0100561)2.29327629
91Upper limb muscle weakness (HP:0003484)2.28978965
92Premature graying of hair (HP:0002216)2.28115911
93Coronal craniosynostosis (HP:0004440)2.27437068
94Vascular tortuosity (HP:0004948)2.25636256
95Abnormality of the peritoneum (HP:0002585)2.24059719
96Increased variability in muscle fiber diameter (HP:0003557)2.23694358
97Vitreoretinal degeneration (HP:0000655)2.23654747
98Abnormality of the labia minora (HP:0012880)2.23628730
99Ependymoma (HP:0002888)2.22501817
100Exostoses (HP:0100777)2.21428760
101Stenosis of the external auditory canal (HP:0000402)2.20927642
102Aplasia/Hypoplasia of the uvula (HP:0010293)2.19401991
103Spontaneous hematomas (HP:0007420)2.19171746
104Abnormality of the pulmonary veins (HP:0011718)2.19055623
105* Supernumerary bones of the axial skeleton (HP:0009144)2.16517702
106IgM deficiency (HP:0002850)2.16066456
107Lip pit (HP:0100267)2.15672324
108Flat cornea (HP:0007720)2.15478346
109Action tremor (HP:0002345)2.14675706
110Reduced subcutaneous adipose tissue (HP:0003758)2.14100323
111Broad metatarsal (HP:0001783)2.13755599
112Elfin facies (HP:0004428)2.11391295
113Dry hair (HP:0011359)2.11237391
114Deviation of the hallux (HP:0010051)2.10930973
115Neonatal short-limb short stature (HP:0008921)2.10505909
116* Down-sloping shoulders (HP:0200021)2.09954330
117Trigonocephaly (HP:0000243)2.09484845
118Ureteral obstruction (HP:0006000)2.07828046
119Hallux valgus (HP:0001822)2.07543709
120Spinal muscular atrophy (HP:0007269)2.07475473
121Chin dimple (HP:0010751)2.05647218
122Mitral valve prolapse (HP:0001634)2.04864405
123Abnormality of cochlea (HP:0000375)2.04280836
124Urethral obstruction (HP:0000796)2.02982072
125Atresia of the external auditory canal (HP:0000413)2.01910048
126Wide intermamillary distance (HP:0006610)2.01172008
127Anophthalmia (HP:0000528)2.00758802
128Glioma (HP:0009733)2.00490391
129Abnormality of the aortic arch (HP:0012303)2.00384989
130Abnormal hair laboratory examination (HP:0003328)1.99975578
131Thyroiditis (HP:0100646)1.99763795
132Bilateral microphthalmos (HP:0007633)1.98681067
133* Neoplasm of the heart (HP:0100544)1.98049495
134Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)1.96213678
135Synophrys (HP:0000664)1.96013388
136Deeply set eye (HP:0000490)1.95817133
137Bell-shaped thorax (HP:0001591)1.94670738
138Aortic dissection (HP:0002647)1.94390894
139Venous insufficiency (HP:0005293)1.94171732
140Overgrowth (HP:0001548)1.93463087
141Menstrual irregularities (HP:0000858)1.93322329
142Morphological abnormality of the middle ear (HP:0008609)1.93022784
143Abnormality of the lower motor neuron (HP:0002366)1.92963170
144Trismus (HP:0000211)1.91438209
145Abnormality of the nasal septum (HP:0000419)1.91340625
146Deep philtrum (HP:0002002)1.90756234
147* Neoplasm of striated muscle (HP:0009728)1.90743482
148Plantar hyperkeratosis (HP:0007556)1.90583943
149Progressive sensorineural hearing impairment (HP:0000408)1.90202288
150Protruding ear (HP:0000411)1.89720616
151Right ventricular cardiomyopathy (HP:0011663)1.89684515
152Mask-like facies (HP:0000298)1.89214005
153Partial duplication of the phalanx of hand (HP:0009999)1.88232038
154Hypoplastic iliac wings (HP:0002866)1.88213749
155Rough bone trabeculation (HP:0100670)1.88089866
156* Short phalanx of the thumb (HP:0009660)1.87533505
157Clubbing of toes (HP:0100760)1.87285598
158Abnormality of skeletal muscle fiber size (HP:0012084)1.84337865
159Abnormality of the ileum (HP:0001549)1.83317141
160Skull defect (HP:0001362)1.83091354
161* Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.81748747
162Increased number of teeth (HP:0011069)1.79759808
163Bronchomalacia (HP:0002780)1.78271764
164Insomnia (HP:0100785)1.76826610
165Abnormality of iron homeostasis (HP:0011031)1.74804345
166Duplication of thumb phalanx (HP:0009942)1.73995167
167Broad toe (HP:0001837)1.73060619
168Prominent occiput (HP:0000269)1.73059731
169Cubitus valgus (HP:0002967)1.71213145
170Meckel diverticulum (HP:0002245)1.71059415
171Hypoventilation (HP:0002791)1.70176054
172Limb-girdle muscle weakness (HP:0003325)1.69822784
173Glucose intolerance (HP:0000833)1.69784710
174Abnormality of the labia majora (HP:0012881)1.69436724
175Persistence of primary teeth (HP:0006335)1.69320759
176Hypothermia (HP:0002045)1.68749726
177Nephroblastoma (Wilms tumor) (HP:0002667)1.68749294
178Blepharitis (HP:0000498)1.68466962
179Poikiloderma (HP:0001029)1.68105476
180Ridged nail (HP:0001807)1.67598401
181Ectropion (HP:0000656)1.67260150
182Esophageal atresia (HP:0002032)1.67126112
183Aortic regurgitation (HP:0001659)1.67040692
184* Kyphoscoliosis (HP:0002751)1.66893120
185Large earlobe (HP:0009748)1.66416987
186Dilatation of the ascending aorta (HP:0005111)1.66353678
187Abnormality of transition element cation homeostasis (HP:0011030)1.66271264
188Natal tooth (HP:0000695)1.65418503
189Rectal fistula (HP:0100590)1.65327319
190Rectovaginal fistula (HP:0000143)1.65327319
191Abnormality of the astrocytes (HP:0100707)1.64639349
192Astrocytoma (HP:0009592)1.64639349
193Oligodactyly (HP:0012165)1.64339075

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ZAK8.44664650
2VRK14.13225129
3CDK123.71541999
4MAP3K103.17780222
5ICK3.09718480
6RPS6KA52.86490015
7CDC72.54379287
8EPHA22.46141452
9EPHB22.43154923
10LATS12.37784950
11SIK12.30761240
12CDK72.28558255
13RIPK12.27826668
14LATS22.26587999
15PRKCI2.25999556
16TTK2.16397698
17BUB12.07442942
18DAPK32.05438077
19NEK21.96862711
20DDR21.89018769
21PBK1.85850526
22TYRO31.79505424
23TRIB31.75356386
24FGFR21.73807767
25EPHA31.71158893
26WEE11.68108604
27BRD41.62875530
28CDK41.54434931
29PDGFRA1.52171699
30ACVR1B1.52058253
31NEK91.51945325
32BMX1.50218400
33MTOR1.50139551
34PNCK1.50109644
35PRKD31.48995564
36FGFR11.46388182
37EEF2K1.45946860
38MAP2K41.39519612
39PKN11.36727673
40RPS6KB21.33004160
41PAK41.32477935
42CHEK21.32437614
43BLK1.32134402
44PIM11.31620785
45MAP3K41.30683263
46MST41.29780788
47MAP3K61.28415596
48MAP2K71.27836159
49CDK61.25267442
50PLK11.24747020
51DYRK31.18494854
52MET1.17173888
53FER1.15640514
54PKN21.14988422
55ATR1.11026776
56NLK1.08205585
57MELK1.05437347
58CHEK11.04665719
59NEK61.02234590
60PLK41.01166036
61TLK10.99909258
62SGK20.99329922
63SCYL20.99000108
64BMPR1B0.96852550
65EIF2AK30.96353349
66MAP2K30.95024760
67MKNK20.92972940
68TSSK60.92792510
69STK30.91281604
70PRKCH0.90204562
71PRKAA10.89719489
72ATM0.86879572
73DYRK1B0.86686850
74PTK60.86623400
75FRK0.86458870
76CDK20.84397457
77MST1R0.84117544
78MAPK110.79507720
79ALK0.79357517
80MAP3K110.78794562
81CAMK40.78705672
82AURKA0.78499713
83STK38L0.78467397
84AURKB0.77586063
85RET0.77305291
86DYRK20.76809676
87PDK40.75450208
88PDK30.75450208
89AKT30.75269027
90SGK2230.73652859
91SGK4940.73652859
92NEK10.73225687
93PAK20.72826643
94TGFBR10.72356232
95AKT20.72284487
96SIK20.72163361
97SGK30.71315376
98CDK10.71305792
99CCNB10.71060960
100CAMK1D0.69569984
101PDGFRB0.64405895
102MAP3K80.62653207
103MKNK10.62608553
104CSNK1E0.62453837
105MAPK10.62444813
106PASK0.61985368
107PRKD20.60710984
108BRSK20.58094674
109STK110.57167399
110PTK20.56602128
111CAMK1G0.56426289
112STK160.55630577
113MAPK150.54829946
114SRPK10.53283618
115CDC42BPA0.53087575
116RPS6KA10.51611284
117TAOK10.50961360
118MAP3K70.50550628
119MAPK140.50267671
120PRKDC0.50111358
121GSK3B0.49112676
122PLK30.48646087
123CSNK1D0.48382416
124CSNK1A1L0.47307806
125STK40.47088867
126SGK10.47019587
127MAPKAPK30.46407672
128MAP3K20.46329279
129ERN10.45756337
130CDK90.45613637
131AKT10.44582568
132CLK10.44370856
133NTRK20.43831302
134BTK0.42846063
135MAPK120.42294930
136FGFR40.41827762
137MAPK80.41479105
138WNK10.41281872
139TTN0.40954244
140JAK20.40874577
141TRPM70.40454467
142MARK20.40123738
143OBSCN0.39442275
144MAP3K30.39434117
145PAK10.39421807
146ERBB20.38840261
147CAMKK20.38539639
148PRKCQ0.38314672
149CSNK2A20.38022243
150PDK20.36705776
151STK240.35628199
152MAPKAPK50.33352099
153MAP3K10.31903903
154CDK80.31696478
155DAPK20.28896429
156RPS6KA60.28838106
157RPS6KC10.26999285
158RPS6KL10.26999285
159STK390.25972625
160STK380.25419191
161RPS6KA30.19733167
162CSNK1G10.19074935
163FGFR30.18251850
164FLT30.18218185
165IKBKB0.17611214
166TAF10.17335180

Predicted pathways (KEGG)

RankGene SetZ-score
1* Basal cell carcinoma_Homo sapiens_hsa052175.41289218
2* Hedgehog signaling pathway_Homo sapiens_hsa043404.60112034
3Mismatch repair_Homo sapiens_hsa034303.02916510
4Protein digestion and absorption_Homo sapiens_hsa049742.86897576
5DNA replication_Homo sapiens_hsa030302.68475444
6ECM-receptor interaction_Homo sapiens_hsa045122.67217887
7Hippo signaling pathway_Homo sapiens_hsa043902.59132145
8Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045502.54530376
9Notch signaling pathway_Homo sapiens_hsa043302.48157570
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.34423234
11Spliceosome_Homo sapiens_hsa030402.22393463
12RNA transport_Homo sapiens_hsa030132.11518308
13Wnt signaling pathway_Homo sapiens_hsa043101.96747064
14Cell cycle_Homo sapiens_hsa041101.87436623
15mRNA surveillance pathway_Homo sapiens_hsa030151.76067789
16TGF-beta signaling pathway_Homo sapiens_hsa043501.73616118
17One carbon pool by folate_Homo sapiens_hsa006701.66134462
18Small cell lung cancer_Homo sapiens_hsa052221.57627920
19Base excision repair_Homo sapiens_hsa034101.56437857
20Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.48189490
21Nucleotide excision repair_Homo sapiens_hsa034201.46367642
22* Pathways in cancer_Homo sapiens_hsa052001.44285750
23Melanogenesis_Homo sapiens_hsa049161.42160434
24Proteoglycans in cancer_Homo sapiens_hsa052051.42136920
25Adherens junction_Homo sapiens_hsa045201.38693813
26MicroRNAs in cancer_Homo sapiens_hsa052061.36888571
27Lysine degradation_Homo sapiens_hsa003101.35625358
28Homologous recombination_Homo sapiens_hsa034401.31734046
29Focal adhesion_Homo sapiens_hsa045101.28450177
30Pancreatic secretion_Homo sapiens_hsa049721.19230961
31Amoebiasis_Homo sapiens_hsa051461.17725418
32HTLV-I infection_Homo sapiens_hsa051661.13873391
33Fanconi anemia pathway_Homo sapiens_hsa034601.09849624
34Axon guidance_Homo sapiens_hsa043601.06674747
35Fatty acid biosynthesis_Homo sapiens_hsa000611.06657048
36Thyroid cancer_Homo sapiens_hsa052161.05935895
37Oocyte meiosis_Homo sapiens_hsa041141.05707236
38Central carbon metabolism in cancer_Homo sapiens_hsa052301.05029566
39Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.03176236
40p53 signaling pathway_Homo sapiens_hsa041151.00763691
41Colorectal cancer_Homo sapiens_hsa052100.99839024
42Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.98705197
43Bladder cancer_Homo sapiens_hsa052190.97123865
44Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.94773365
45PI3K-Akt signaling pathway_Homo sapiens_hsa041510.93806078
46Systemic lupus erythematosus_Homo sapiens_hsa053220.93403114
47Dorso-ventral axis formation_Homo sapiens_hsa043200.92897017
48Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.88624832
49mTOR signaling pathway_Homo sapiens_hsa041500.88408750
50Thyroid hormone signaling pathway_Homo sapiens_hsa049190.87273762
51Transcriptional misregulation in cancer_Homo sapiens_hsa052020.82828258
52Prostate cancer_Homo sapiens_hsa052150.82428751
53Melanoma_Homo sapiens_hsa052180.82252899
54Inositol phosphate metabolism_Homo sapiens_hsa005620.81832813
55Ribosome_Homo sapiens_hsa030100.81426180
56Tight junction_Homo sapiens_hsa045300.78585235
57RNA degradation_Homo sapiens_hsa030180.77246188
58Viral carcinogenesis_Homo sapiens_hsa052030.76793706
59Basal transcription factors_Homo sapiens_hsa030220.76261866
60Phosphatidylinositol signaling system_Homo sapiens_hsa040700.75658005
61Endometrial cancer_Homo sapiens_hsa052130.73811638
62AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.72836374
63Longevity regulating pathway - mammal_Homo sapiens_hsa042110.68381145
64AMPK signaling pathway_Homo sapiens_hsa041520.66803016
65RNA polymerase_Homo sapiens_hsa030200.63888561
66B cell receptor signaling pathway_Homo sapiens_hsa046620.63041176
67Biosynthesis of amino acids_Homo sapiens_hsa012300.59581776
68Acute myeloid leukemia_Homo sapiens_hsa052210.58068076
69Alcoholism_Homo sapiens_hsa050340.56998034
70VEGF signaling pathway_Homo sapiens_hsa043700.56838678
71Chronic myeloid leukemia_Homo sapiens_hsa052200.56333762
72Estrogen signaling pathway_Homo sapiens_hsa049150.55224281
73Pancreatic cancer_Homo sapiens_hsa052120.55175649
74Circadian rhythm_Homo sapiens_hsa047100.54893538
75Non-homologous end-joining_Homo sapiens_hsa034500.54602736
76Selenocompound metabolism_Homo sapiens_hsa004500.54476505
77Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.53015755
78Glucagon signaling pathway_Homo sapiens_hsa049220.50218566
79Rap1 signaling pathway_Homo sapiens_hsa040150.49640413
80Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48881287
81Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.48184670
82Regulation of actin cytoskeleton_Homo sapiens_hsa048100.46168513
83Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45984990
84Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.45590844
85Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.45521429
86FoxO signaling pathway_Homo sapiens_hsa040680.45476512
87Cyanoamino acid metabolism_Homo sapiens_hsa004600.44013042
88Renin secretion_Homo sapiens_hsa049240.42308174
89Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.41870007
90Pyrimidine metabolism_Homo sapiens_hsa002400.41421239
91GnRH signaling pathway_Homo sapiens_hsa049120.40221763
922-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.40175210
93Prolactin signaling pathway_Homo sapiens_hsa049170.39402823
94Glioma_Homo sapiens_hsa052140.38870099
95Insulin signaling pathway_Homo sapiens_hsa049100.38128328
96Insulin resistance_Homo sapiens_hsa049310.37439384
97T cell receptor signaling pathway_Homo sapiens_hsa046600.36200976
98Epstein-Barr virus infection_Homo sapiens_hsa051690.35902442
99Salivary secretion_Homo sapiens_hsa049700.35608704
100Intestinal immune network for IgA production_Homo sapiens_hsa046720.35496882
101Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35169044
102ErbB signaling pathway_Homo sapiens_hsa040120.34558735
103Calcium signaling pathway_Homo sapiens_hsa040200.33040967
104Cholinergic synapse_Homo sapiens_hsa047250.33014799
105Neurotrophin signaling pathway_Homo sapiens_hsa047220.32600961
106Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31585429
107Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.31082623
108cGMP-PKG signaling pathway_Homo sapiens_hsa040220.31060871
109Regulation of autophagy_Homo sapiens_hsa041400.31042248
110Renal cell carcinoma_Homo sapiens_hsa052110.30580642
111Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.30103750
112Phospholipase D signaling pathway_Homo sapiens_hsa040720.29924499
113Type II diabetes mellitus_Homo sapiens_hsa049300.29867845
114Choline metabolism in cancer_Homo sapiens_hsa052310.29784975
115NF-kappa B signaling pathway_Homo sapiens_hsa040640.29141460
116Non-small cell lung cancer_Homo sapiens_hsa052230.29009196
117Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.28845378
118Viral myocarditis_Homo sapiens_hsa054160.28685740
119Sphingolipid signaling pathway_Homo sapiens_hsa040710.28032207
120Bile secretion_Homo sapiens_hsa049760.27167760
121Gap junction_Homo sapiens_hsa045400.26632404
122MAPK signaling pathway_Homo sapiens_hsa040100.26200474
123Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.26001533
124TNF signaling pathway_Homo sapiens_hsa046680.25703085
125Ovarian steroidogenesis_Homo sapiens_hsa049130.25411802
126Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.24575907
127Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.24545316
128cAMP signaling pathway_Homo sapiens_hsa040240.24306746
129PPAR signaling pathway_Homo sapiens_hsa033200.23617969
130Thyroid hormone synthesis_Homo sapiens_hsa049180.23528078
131Dilated cardiomyopathy_Homo sapiens_hsa054140.23267532
132Adipocytokine signaling pathway_Homo sapiens_hsa049200.21642366
133ABC transporters_Homo sapiens_hsa020100.21040135
134Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.20976077
135HIF-1 signaling pathway_Homo sapiens_hsa040660.20126131
136Vascular smooth muscle contraction_Homo sapiens_hsa042700.19680722
137Prion diseases_Homo sapiens_hsa050200.19320184
138Ras signaling pathway_Homo sapiens_hsa040140.18841159
139Fat digestion and absorption_Homo sapiens_hsa049750.18792452
140Platelet activation_Homo sapiens_hsa046110.18474996

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