SMAD1

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





Description: The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pattern specification involved in kidney development (GO:0061004)4.12691954
2response to pheromone (GO:0019236)4.08802197
3lymph vessel development (GO:0001945)4.03995588
4ganglion development (GO:0061548)3.93466668
5blood vessel maturation (GO:0001955)3.93338923
6epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.83447072
7DNA double-strand break processing (GO:0000729)3.81795177
8hemidesmosome assembly (GO:0031581)3.73053430
9intraciliary transport (GO:0042073)3.53883752
10RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.50179259
11negative regulation of keratinocyte proliferation (GO:0010839)3.46691648
12retinal cone cell development (GO:0046549)3.42637089
13kidney morphogenesis (GO:0060993)3.38360553
14behavioral response to nicotine (GO:0035095)3.36875768
15presynaptic membrane assembly (GO:0097105)3.30526802
16nonmotile primary cilium assembly (GO:0035058)3.25732218
17epithelial cilium movement (GO:0003351)3.23952150
18ubiquinone metabolic process (GO:0006743)3.19900845
19presynaptic membrane organization (GO:0097090)3.14628698
20dopaminergic neuron differentiation (GO:0071542)3.07838984
21water-soluble vitamin biosynthetic process (GO:0042364)3.07367484
22acrosome reaction (GO:0007340)3.06483991
23L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.03358763
24sympathetic nervous system development (GO:0048485)3.02068956
25segment specification (GO:0007379)3.01810116
26cellular response to growth hormone stimulus (GO:0071378)3.01382172
27multicellular organism reproduction (GO:0032504)3.00698963
28facial nerve structural organization (GO:0021612)2.99145038
29lymphangiogenesis (GO:0001946)2.98317339
30ubiquinone biosynthetic process (GO:0006744)2.96967293
31negative regulation of DNA-dependent DNA replication (GO:2000104)2.94247225
32pharyngeal system development (GO:0060037)2.93893610
33auditory behavior (GO:0031223)2.93518959
34endothelium development (GO:0003158)2.91302491
35protein polyglutamylation (GO:0018095)2.87341598
36negative regulation of JAK-STAT cascade (GO:0046426)2.86558772
37negative regulation of axon extension involved in axon guidance (GO:0048843)2.85388274
38retinal ganglion cell axon guidance (GO:0031290)2.84004973
39lateral sprouting from an epithelium (GO:0060601)2.83151825
40detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.80139634
41tryptophan metabolic process (GO:0006568)2.75073050
42positive regulation of vasculogenesis (GO:2001214)2.74213733
43limb bud formation (GO:0060174)2.73682607
44cell proliferation involved in kidney development (GO:0072111)2.73599560
45regulation of action potential (GO:0098900)2.73133364
46regulation of secondary heart field cardioblast proliferation (GO:0003266)2.72980241
47regulation of cardioblast proliferation (GO:0003264)2.72980241
48desmosome organization (GO:0002934)2.68708703
49negative regulation of axon guidance (GO:1902668)2.67259254
50axon extension involved in axon guidance (GO:0048846)2.67038130
51neuron projection extension involved in neuron projection guidance (GO:1902284)2.67038130
52renal system development (GO:0072001)2.66209520
53regulation of sarcomere organization (GO:0060297)2.65913648
54dendritic spine morphogenesis (GO:0060997)2.64574001
55regulation of axon extension involved in axon guidance (GO:0048841)2.64499827
56aspartate family amino acid catabolic process (GO:0009068)2.64331455
57cell migration involved in sprouting angiogenesis (GO:0002042)2.63800515
58positive regulation of glomerulus development (GO:0090193)2.63176494
59cilium morphogenesis (GO:0060271)2.62742801
60cilium movement (GO:0003341)2.62350974
61mesodermal cell differentiation (GO:0048333)2.62283423
62regulation of nuclear cell cycle DNA replication (GO:0033262)2.61617900
63regulation of vasculogenesis (GO:2001212)2.60872514
64regulation of cilium movement (GO:0003352)2.60185752
65vascular endothelial growth factor signaling pathway (GO:0038084)2.59884136
66postsynaptic membrane organization (GO:0001941)2.59753895
67outer ear morphogenesis (GO:0042473)2.59432211
68cell migration in hindbrain (GO:0021535)2.58611252
69mechanosensory behavior (GO:0007638)2.58245339
70axoneme assembly (GO:0035082)2.58123171
71vascular smooth muscle contraction (GO:0014829)2.57496109
72retina vasculature morphogenesis in camera-type eye (GO:0061299)2.57338900
73negative regulation of norepinephrine secretion (GO:0010700)2.56364549
74lung lobe morphogenesis (GO:0060463)2.56316003
75regulation of axon guidance (GO:1902667)2.55226749
76L-methionine salvage (GO:0071267)2.53940051
77L-methionine biosynthetic process (GO:0071265)2.53940051
78amino acid salvage (GO:0043102)2.53940051
79phasic smooth muscle contraction (GO:0014821)2.53643768
80regulation of mesenchymal cell proliferation (GO:0010464)2.52970652
81regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.52587998
82cilium organization (GO:0044782)2.51631512
83cornea development in camera-type eye (GO:0061303)2.50437457
84regulation of epithelial cell differentiation involved in kidney development (GO:2000696)2.50113659
85platelet dense granule organization (GO:0060155)2.49866945
86negative regulation of thymocyte apoptotic process (GO:0070244)2.49645518
87inner ear receptor stereocilium organization (GO:0060122)2.48857581
88neural crest cell development (GO:0014032)2.48046754
89negative regulation of catenin import into nucleus (GO:0035414)2.46533648
90sperm motility (GO:0030317)2.46472330
91labyrinthine layer development (GO:0060711)2.46103330
92G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.45541104
93glomerulus development (GO:0032835)2.44701067
94heart valve morphogenesis (GO:0003179)2.44365788
95replication fork processing (GO:0031297)2.44144622
96protein K6-linked ubiquitination (GO:0085020)2.43564778
97nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.43405728
98cilium or flagellum-dependent cell motility (GO:0001539)2.42629015
99somite development (GO:0061053)2.42073612
100negative regulation of stem cell proliferation (GO:2000647)2.41623810
101exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.41438387
102dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.40771137
103metanephric mesenchyme development (GO:0072075)2.40455367
104planar cell polarity pathway involved in neural tube closure (GO:0090179)2.39898530
105negative regulation of chondrocyte differentiation (GO:0032331)2.38972591
106positive regulation of mesenchymal cell proliferation (GO:0002053)2.38468949
107growth hormone receptor signaling pathway (GO:0060396)2.37790578
108photoreceptor cell development (GO:0042461)2.37718745
109cilium assembly (GO:0042384)2.37045595
110negative regulation of oligodendrocyte differentiation (GO:0048715)2.36313635
111behavioral response to ethanol (GO:0048149)2.36263228
112branching involved in salivary gland morphogenesis (GO:0060445)2.36216344
113substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.34494744
114substrate-independent telencephalic tangential migration (GO:0021826)2.34494744
115C4-dicarboxylate transport (GO:0015740)2.33795244
116bundle of His cell to Purkinje myocyte communication (GO:0086069)2.33740921
117translesion synthesis (GO:0019985)2.33736052
118regulation of glomerulus development (GO:0090192)2.33647701
119quinone biosynthetic process (GO:1901663)2.33270059
120artery development (GO:0060840)2.33139034
121cardiac epithelial to mesenchymal transition (GO:0060317)2.32445232
122negative regulation of synaptic transmission, GABAergic (GO:0032229)2.32318042
123lysine metabolic process (GO:0006553)2.31953538
124lysine catabolic process (GO:0006554)2.31953538
125positive regulation of gastrulation (GO:2000543)2.31748636
126cell adhesion mediated by integrin (GO:0033627)2.31179812
127regulation of heart morphogenesis (GO:2000826)2.31159554
128regulation of nephron tubule epithelial cell differentiation (GO:0072182)2.30856566
129cartilage morphogenesis (GO:0060536)2.30618005
130cell surface receptor signaling pathway involved in heart development (GO:0061311)2.30422238
131anatomical structure arrangement (GO:0048532)2.30108740
132pyrimidine nucleobase catabolic process (GO:0006208)2.29523454
133middle ear morphogenesis (GO:0042474)2.29490277
134RNA destabilization (GO:0050779)2.29054785
135smoothened signaling pathway (GO:0007224)2.28982893
136parental behavior (GO:0060746)2.27751916
137* cellular response to BMP stimulus (GO:0071773)2.27546973
138* response to BMP (GO:0071772)2.27546973
139mammary gland development (GO:0030879)2.27236531
140maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.27177899
141regulation of transforming growth factor beta2 production (GO:0032909)2.27148890
142regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.26729862
143positive regulation of hormone biosynthetic process (GO:0046886)2.26691233
144cell proliferation involved in metanephros development (GO:0072203)2.26098188
145positive regulation of cardiac muscle cell differentiation (GO:2000727)2.25339356
146negative regulation of cytosolic calcium ion concentration (GO:0051481)2.24407223
147keratinocyte proliferation (GO:0043616)2.24288728
148resolution of meiotic recombination intermediates (GO:0000712)2.23175232
149regulation of timing of cell differentiation (GO:0048505)2.23072084
150regulation of cell fate specification (GO:0042659)2.22825427
151gland morphogenesis (GO:0022612)2.22668755
152calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.22572943
153hippo signaling (GO:0035329)2.22563203
154establishment of tissue polarity (GO:0007164)2.22106945
155establishment of planar polarity (GO:0001736)2.22106945
156negative regulation of cartilage development (GO:0061037)2.21711499
157cellular response to prostaglandin stimulus (GO:0071379)2.21684028
158eye photoreceptor cell development (GO:0042462)2.21659789
159substrate-dependent cell migration (GO:0006929)2.21550067
160axonemal dynein complex assembly (GO:0070286)2.20541847
161endothelial cell differentiation (GO:0045446)2.20158676
162behavioral response to cocaine (GO:0048148)2.19597245
163negative regulation of cell fate specification (GO:0009996)2.18991673
164centriole replication (GO:0007099)2.18665472
165photoreceptor cell maintenance (GO:0045494)2.18578517
166pancreas development (GO:0031016)2.18085658
167anterograde axon cargo transport (GO:0008089)2.17591592
168artery smooth muscle contraction (GO:0014824)2.17468497
169face development (GO:0060324)2.17327407
170regulation of endothelial cell differentiation (GO:0045601)2.17126913
171axonal fasciculation (GO:0007413)2.16847742
172cranial nerve structural organization (GO:0021604)2.16659024
173epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.16359354
174epithelial to mesenchymal transition (GO:0001837)2.14100717
175surfactant homeostasis (GO:0043129)2.13528605
176myoblast migration (GO:0051451)2.13027095
177regulation of keratinocyte proliferation (GO:0010837)2.12819116
178nucleobase catabolic process (GO:0046113)2.12560427
179mesenchymal cell differentiation (GO:0048762)2.11621222
180regulation of cell proliferation involved in heart morphogenesis (GO:2000136)2.11373129
181cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.10995447
182branching involved in prostate gland morphogenesis (GO:0060442)2.10761936
183negative regulation of dendrite morphogenesis (GO:0050774)2.10447602
184mesenchyme morphogenesis (GO:0072132)2.10345910
185epithelial cell differentiation involved in kidney development (GO:0035850)2.10259663
186uterus development (GO:0060065)2.09691827
187regulation of cell proliferation involved in kidney development (GO:1901722)2.09549242

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.45052224
2ZNF274_21170338_ChIP-Seq_K562_Hela3.56387255
3STAT6_21828071_ChIP-Seq_BEAS2B_Human2.81258637
4TRIM28_21343339_ChIP-Seq_HEK293_Human2.67824723
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.42737263
6EWS_26573619_Chip-Seq_HEK293_Human2.41146924
7FUS_26573619_Chip-Seq_HEK293_Human2.30210355
8ZNF217_24962896_ChIP-Seq_MCF-7_Human2.21041534
9CDX2_19796622_ChIP-Seq_MESCs_Mouse2.11274975
10IGF1R_20145208_ChIP-Seq_DFB_Human2.11269890
11SMAD_19615063_ChIP-ChIP_OVARY_Human2.10048799
12CTBP1_25329375_ChIP-Seq_LNCAP_Human2.08865332
13TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.06139099
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.04918213
15HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.04159269
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.03791743
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.02214585
18CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.00324586
19VDR_22108803_ChIP-Seq_LS180_Human1.99422104
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.96853624
21CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.96149814
22SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.94039060
23SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.92816528
24FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.89839622
25EZH2_18974828_ChIP-Seq_MESCs_Mouse1.86210837
26RNF2_18974828_ChIP-Seq_MESCs_Mouse1.86210837
27JARID2_20075857_ChIP-Seq_MESCs_Mouse1.85643092
28CBP_20019798_ChIP-Seq_JUKART_Human1.83671067
29IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.83671067
30SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.83650413
31* WT1_19549856_ChIP-ChIP_CCG9911_Human1.81804064
32JARID2_20064375_ChIP-Seq_MESCs_Mouse1.80576056
33SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.78861142
34ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.78339904
35SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.74511903
36* SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.72665484
37PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.71504065
38MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.70759660
39RNF2_27304074_Chip-Seq_ESCs_Mouse1.67471570
40PIAS1_25552417_ChIP-Seq_VCAP_Human1.67421512
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.64633263
42E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.64396060
43AR_21572438_ChIP-Seq_LNCaP_Human1.64329821
44BMI1_23680149_ChIP-Seq_NPCS_Mouse1.64200001
45AHR_22903824_ChIP-Seq_MCF-7_Human1.63499889
46RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.62014414
47SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62010984
48TP53_18474530_ChIP-ChIP_U2OS_Human1.61500693
49* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.61379540
50GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.61378238
51EP300_21415370_ChIP-Seq_HL-1_Mouse1.60670098
52NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.60367772
53FLI1_27457419_Chip-Seq_LIVER_Mouse1.60053784
54EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.59116275
55IRF1_19129219_ChIP-ChIP_H3396_Human1.56629784
56CJUN_26792858_Chip-Seq_BT549_Human1.55718455
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.55118551
58ER_23166858_ChIP-Seq_MCF-7_Human1.54690427
59UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.54276664
60PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.54089529
61ESR1_21235772_ChIP-Seq_MCF-7_Human1.50185539
62ARNT_22903824_ChIP-Seq_MCF-7_Human1.49487724
63RBPJ_22232070_ChIP-Seq_NCS_Mouse1.48190037
64SUZ12_27294783_Chip-Seq_ESCs_Mouse1.47865649
65STAT3_23295773_ChIP-Seq_U87_Human1.47075571
66MTF2_20144788_ChIP-Seq_MESCs_Mouse1.44049121
67KLF5_20875108_ChIP-Seq_MESCs_Mouse1.43849906
68CDX2_20551321_ChIP-Seq_CACO-2_Human1.43762555
69EZH2_27294783_Chip-Seq_ESCs_Mouse1.42834380
70AR_25329375_ChIP-Seq_VCAP_Human1.42560409
71PCGF2_27294783_Chip-Seq_ESCs_Mouse1.42216810
72FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.41367110
73EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.40578710
74CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.39157208
75TP53_16413492_ChIP-PET_HCT116_Human1.38035619
76GBX2_23144817_ChIP-Seq_PC3_Human1.36771322
77TCF4_18268006_ChIP-ChIP_LS174T_Human1.35147424
78TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.35071326
79SOX2_20726797_ChIP-Seq_SW620_Human1.34515590
80FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.34378753
81SALL1_21062744_ChIP-ChIP_HESCs_Human1.33791747
82RING1B_27294783_Chip-Seq_NPCs_Mouse1.33734594
83* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.32813801
84EZH2_22144423_ChIP-Seq_EOC_Human1.31689074
85STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.31612030
86* RUNX2_22187159_ChIP-Seq_PCA_Human1.31162107
87CLOCK_20551151_ChIP-Seq_293T_Human1.30346600
88HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.29819494
89BP1_19119308_ChIP-ChIP_Hs578T_Human1.29237485
90HIF1A_21447827_ChIP-Seq_MCF-7_Human1.28914962
91KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.28873708
92P300_19829295_ChIP-Seq_ESCs_Human1.26961843
93* TCF4_23295773_ChIP-Seq_U87_Human1.25467133
94* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.25055365
95* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.25054437
96TP53_20018659_ChIP-ChIP_R1E_Mouse1.24504867
97BCAT_22108803_ChIP-Seq_LS180_Human1.24128709
98GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.23950402
99TCF4_22108803_ChIP-Seq_LS180_Human1.22486202
100AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.20644664
101POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.19366853
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19366853
103* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.18715477
104MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.18520428
105SOX9_24532713_ChIP-Seq_HFSC_Mouse1.18039002
106NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.17744109
107NRF2_20460467_ChIP-Seq_MEFs_Mouse1.17744109
108ELK1_19687146_ChIP-ChIP_HELA_Human1.17204131
109MYC_18940864_ChIP-ChIP_HL60_Human1.15175907
110RING1B_27294783_Chip-Seq_ESCs_Mouse1.14030612
111ESR1_20079471_ChIP-ChIP_T-47D_Human1.14010024
112CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13660294
113TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13562738
114PCGF2_27294783_Chip-Seq_NPCs_Mouse1.13412795
115TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.13127510
116TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12561695
117SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.12125979
118TAF15_26573619_Chip-Seq_HEK293_Human1.12002523
119* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.10744329
120* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.10744329
121GATA2_21666600_ChIP-Seq_HMVEC_Human1.10038242
122VDR_24787735_ChIP-Seq_THP-1_Human1.09826618
123EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.09371382
124EZH2_27294783_Chip-Seq_NPCs_Mouse1.07234814
125POU5F1_16153702_ChIP-ChIP_HESCs_Human1.07203530
126CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.07189248
127ZFP57_27257070_Chip-Seq_ESCs_Mouse1.06920332
128NR3C1_23031785_ChIP-Seq_PC12_Mouse1.06830081
129SMAD3_21741376_ChIP-Seq_EPCs_Human1.06172858
130WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.05132272
131ISL1_27105846_Chip-Seq_CPCs_Mouse1.04758501
132NANOG_18555785_Chip-Seq_ESCs_Mouse1.04748315
133RNF2_27304074_Chip-Seq_NSC_Mouse1.04657767
134SMAD4_21741376_ChIP-Seq_EPCs_Human1.04304191
135NR3C1_21868756_ChIP-Seq_MCF10A_Human1.04288612
136* SMAD4_21799915_ChIP-Seq_A2780_Human1.04255172
137* TAL1_26923725_Chip-Seq_HPCs_Mouse1.04211376
138ESR2_21235772_ChIP-Seq_MCF-7_Human1.03977576
139JUN_21703547_ChIP-Seq_K562_Human1.03805918
140TP53_22573176_ChIP-Seq_HFKS_Human1.03635123
141TOP2B_26459242_ChIP-Seq_MCF-7_Human1.03154267
142CTBP2_25329375_ChIP-Seq_LNCAP_Human1.02867005
143PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.02632397
144TP63_19390658_ChIP-ChIP_HaCaT_Human1.02515387
145FOXM1_26456572_ChIP-Seq_MCF-7_Human1.02237142
146NANOG_19829295_ChIP-Seq_ESCs_Human1.01648073
147SOX2_19829295_ChIP-Seq_ESCs_Human1.01648073
148CDX2_22108803_ChIP-Seq_LS180_Human1.00862007
149* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.00477324
150TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99228663
151FLI1_21867929_ChIP-Seq_TH2_Mouse0.99116747
152* SOX2_21211035_ChIP-Seq_LN229_Gbm0.98708550
153FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.98473018
154BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.98457859
155TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.98272283
156LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97988715
157RARG_19884340_ChIP-ChIP_MEFs_Mouse0.97668655
158CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.97221402
159WT1_25993318_ChIP-Seq_PODOCYTE_Human0.96759998
160PPAR_26484153_Chip-Seq_NCI-H1993_Human0.95930259
161ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.95707536
162RXR_22108803_ChIP-Seq_LS180_Human0.95503386
163OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.95489445
164ETV2_25802403_ChIP-Seq_MESCs_Mouse0.95225058
165RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.94939865
166STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.94923482

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002138_abnormal_hepatobiliary_system5.85553653
2MP0002254_reproductive_system_inflammat4.64991771
3MP0009379_abnormal_foot_pigmentation3.70978699
4MP0010368_abnormal_lymphatic_system3.27910248
5MP0005360_urolithiasis3.17018900
6MP0000537_abnormal_urethra_morphology3.16619935
7MP0000566_synostosis3.06518091
8MP0001879_abnormal_lymphatic_vessel3.04655443
9MP0001346_abnormal_lacrimal_gland2.68952019
10MP0005167_abnormal_blood-brain_barrier2.67488999
11MP0010030_abnormal_orbit_morphology2.54237121
12MP0004272_abnormal_basement_membrane2.53227948
13MP0005367_renal/urinary_system_phenotyp2.29545710
14MP0000516_abnormal_urinary_system2.29545710
15MP0002653_abnormal_ependyma_morphology2.22793100
16MP0001529_abnormal_vocalization2.11612236
17* MP0003385_abnormal_body_wall2.11371979
18MP0003880_abnormal_central_pattern2.07559062
19MP0003828_pulmonary_edema2.06742816
20MP0003705_abnormal_hypodermis_morpholog2.06171029
21MP0005503_abnormal_tendon_morphology2.03160986
22MP0009053_abnormal_anal_canal1.99247075
23MP0001984_abnormal_olfaction1.99038683
24MP0003941_abnormal_skin_development1.97763289
25MP0004885_abnormal_endolymph1.94690014
26MP0010234_abnormal_vibrissa_follicle1.78996181
27MP0004145_abnormal_muscle_electrophysio1.76895807
28MP0000538_abnormal_urinary_bladder1.76872848
29MP0002876_abnormal_thyroid_physiology1.74076740
30MP0009250_abnormal_appendicular_skeleto1.72629956
31MP0005084_abnormal_gallbladder_morpholo1.69717851
32MP0001485_abnormal_pinna_reflex1.65894347
33MP0006072_abnormal_retinal_apoptosis1.65138814
34MP0002098_abnormal_vibrissa_morphology1.60521548
35MP0005499_abnormal_olfactory_system1.59558340
36MP0005394_taste/olfaction_phenotype1.59558340
37MP0000049_abnormal_middle_ear1.58421398
38MP0003567_abnormal_fetal_cardiomyocyte1.57947110
39MP0002009_preneoplasia1.54363386
40MP0004215_abnormal_myocardial_fiber1.53793084
41MP0001968_abnormal_touch/_nociception1.50363462
42MP0000767_abnormal_smooth_muscle1.49116127
43MP0006292_abnormal_olfactory_placode1.46602883
44MP0005275_abnormal_skin_tensile1.39944530
45MP0000762_abnormal_tongue_morphology1.39416633
46MP0005508_abnormal_skeleton_morphology1.39348312
47MP0003724_increased_susceptibility_to1.38799764
48MP0003942_abnormal_urinary_system1.38762377
49MP0002877_abnormal_melanocyte_morpholog1.38583675
50MP0000383_abnormal_hair_follicle1.38405391
51MP0002282_abnormal_trachea_morphology1.37634413
52MP0004084_abnormal_cardiac_muscle1.36980527
53MP0005623_abnormal_meninges_morphology1.36419255
54MP0005646_abnormal_pituitary_gland1.36010341
55MP0003300_gastrointestinal_ulcer1.35863031
56MP0010678_abnormal_skin_adnexa1.34843567
57MP0002938_white_spotting1.34088351
58MP0002638_abnormal_pupillary_reflex1.32063419
59MP0003122_maternal_imprinting1.30388932
60MP0005253_abnormal_eye_physiology1.30255735
61MP0008877_abnormal_DNA_methylation1.29925130
62MP0002896_abnormal_bone_mineralization1.29900095
63MP0002735_abnormal_chemical_nociception1.26015073
64MP0002102_abnormal_ear_morphology1.25692513
65MP0003718_maternal_effect1.24736266
66MP0009780_abnormal_chondrocyte_physiolo1.22501221
67MP0001293_anophthalmia1.21677349
68MP0006276_abnormal_autonomic_nervous1.21660457
69MP0001486_abnormal_startle_reflex1.20878753
70MP0003755_abnormal_palate_morphology1.20348336
71MP0002060_abnormal_skin_morphology1.19401370
72MP0000778_abnormal_nervous_system1.19043746
73MP0009697_abnormal_copulation1.18494298
74MP0005187_abnormal_penis_morphology1.17502760
75MP0001188_hyperpigmentation1.17461892
76MP0001299_abnormal_eye_distance/1.16386576
77MP0003937_abnormal_limbs/digits/tail_de1.16382798
78MP0005220_abnormal_exocrine_pancreas1.15905568
79MP0005551_abnormal_eye_electrophysiolog1.15326022
80MP0009384_cardiac_valve_regurgitation1.15208333
81MP0008789_abnormal_olfactory_epithelium1.14631068
82MP0002177_abnormal_outer_ear1.14249965
83MP0003091_abnormal_cell_migration1.14135547
84MP0008775_abnormal_heart_ventricle1.13590618
85MP0000026_abnormal_inner_ear1.13131690
86MP0003279_aneurysm1.12795365
87MP0004883_abnormal_blood_vessel1.12697465
88MP0008438_abnormal_cutaneous_collagen1.11952411
89MP0008004_abnormal_stomach_pH1.11649891
90MP0010386_abnormal_urinary_bladder1.11168490
91MP0000579_abnormal_nail_morphology1.10940897
92MP0000613_abnormal_salivary_gland1.10534651
93MP0003890_abnormal_embryonic-extraembry1.10475445
94MP0010352_gastrointestinal_tract_polyps1.10000668
95MP0004133_heterotaxia1.09915359
96MP0000631_abnormal_neuroendocrine_gland1.09707470
97MP0002932_abnormal_joint_morphology1.08609026
98MP0001270_distended_abdomen1.08457859
99MP0002234_abnormal_pharynx_morphology1.07842728
100MP0002233_abnormal_nose_morphology1.05253306
101MP0004142_abnormal_muscle_tone1.05018122
102MP0002733_abnormal_thermal_nociception1.03638501
103MP0002127_abnormal_cardiovascular_syste1.02522864
104MP0002277_abnormal_respiratory_mucosa1.02131468
105MP0002751_abnormal_autonomic_nervous1.01497768
106MP0000462_abnormal_digestive_system1.01417824
107MP0002184_abnormal_innervation1.01185138
108MP0006054_spinal_hemorrhage1.00990148
109MP0003315_abnormal_perineum_morphology1.00533399
110MP0003136_yellow_coat_color0.99476556
111MP0000163_abnormal_cartilage_morphology0.98530376
112MP0003878_abnormal_ear_physiology0.98314808
113MP0005377_hearing/vestibular/ear_phenot0.98314808
114MP0002067_abnormal_sensory_capabilities0.97791125
115MP0002116_abnormal_craniofacial_bone0.97239970
116MP0009046_muscle_twitch0.95740777
117MP0000678_abnormal_parathyroid_gland0.94672311
118MP0002734_abnormal_mechanical_nocicepti0.94577471
119MP0009745_abnormal_behavioral_response0.93969488
120MP0001905_abnormal_dopamine_level0.93203108
121MP0010094_abnormal_chromosome_stability0.93156188
122MP0000534_abnormal_ureter_morphology0.92732980
123MP0005257_abnormal_intraocular_pressure0.91753197
124MP0004085_abnormal_heartbeat0.90108123
125MP0004859_abnormal_synaptic_plasticity0.89823362
126MP0003121_genomic_imprinting0.88979662
127MP0005248_abnormal_Harderian_gland0.88593515
128MP0002796_impaired_skin_barrier0.87033697
129MP0003453_abnormal_keratinocyte_physiol0.87001233
130* MP0003935_abnormal_craniofacial_develop0.86684257
131MP0005595_abnormal_vascular_smooth0.86449578
132MP0002909_abnormal_adrenal_gland0.85806809
133MP0005195_abnormal_posterior_eye0.85360500
134MP0000569_abnormal_digit_pigmentation0.85273408
135MP0005391_vision/eye_phenotype0.84255855
136MP0001348_abnormal_lacrimal_gland0.83848375
137MP0001970_abnormal_pain_threshold0.83625362
138MP0005197_abnormal_uvea_morphology0.83171500
139MP0005388_respiratory_system_phenotype0.83097564
140MP0002133_abnormal_respiratory_system0.83097564
141MP0000427_abnormal_hair_cycle0.82987709
142MP0000733_abnormal_muscle_development0.82748900
143MP0005390_skeleton_phenotype0.82672490
144MP0002108_abnormal_muscle_morphology0.82279115
145MP0005164_abnormal_response_to0.81971339
146MP0002572_abnormal_emotion/affect_behav0.81807297
147MP0002295_abnormal_pulmonary_circulatio0.81550200
148MP0001340_abnormal_eyelid_morphology0.81196394
149MP0002928_abnormal_bile_duct0.80916504
150MP0002109_abnormal_limb_morphology0.80910942
151MP0002113_abnormal_skeleton_development0.80056277
152MP0003045_fibrosis0.79860743
153MP0006138_congestive_heart_failure0.79844413
154MP0003119_abnormal_digestive_system0.79449749
155MP0002115_abnormal_skeleton_extremities0.78897764
156* MP0002752_abnormal_somatic_nervous0.78593179
157MP0003566_abnormal_cell_adhesion0.77282691
158MP0002249_abnormal_larynx_morphology0.77074818
159MP0005645_abnormal_hypothalamus_physiol0.76917075
160MP0003646_muscle_fatigue0.76623815
161MP0002557_abnormal_social/conspecific_i0.76613678
162MP0000432_abnormal_head_morphology0.76566987
163MP0005386_behavior/neurological_phenoty0.75022824
164MP0004924_abnormal_behavior0.75022824
165MP0002272_abnormal_nervous_system0.74890815
166MP0001286_abnormal_eye_development0.73698705
167MP0001502_abnormal_circadian_rhythm0.72748382
168MP0003635_abnormal_synaptic_transmissio0.71840769
169MP0000955_abnormal_spinal_cord0.70932885
170MP0002160_abnormal_reproductive_system0.70443776

Predicted human phenotypes

RankGene SetZ-score
1Panhypogammaglobulinemia (HP:0003139)4.19087544
2Abnormality of midbrain morphology (HP:0002418)3.63759271
3Molar tooth sign on MRI (HP:0002419)3.63759271
4B lymphocytopenia (HP:0010976)3.62112522
5Abnormality of B cell number (HP:0010975)3.46017724
6Hypoplasia of the thymus (HP:0000778)3.41182846
7Oligodactyly (hands) (HP:0001180)3.31633209
8Pancreatic cysts (HP:0001737)3.30080896
9Atrophic scars (HP:0001075)3.19801421
10Medial flaring of the eyebrow (HP:0010747)3.18332944
11Pancreatic fibrosis (HP:0100732)3.16360362
12Nephronophthisis (HP:0000090)3.14093760
13True hermaphroditism (HP:0010459)3.10925948
14Hypoproteinemia (HP:0003075)3.10799833
15Cutaneous finger syndactyly (HP:0010554)3.04492497
16Lip pit (HP:0100267)3.03258649
17Milia (HP:0001056)2.98903500
18Thyroiditis (HP:0100646)2.92001598
19Abnormality of the renal cortex (HP:0011035)2.91857673
20Abnormality of the renal medulla (HP:0100957)2.91646279
21Abnormality of the nasal septum (HP:0000419)2.91197303
22Chronic hepatic failure (HP:0100626)2.74081415
23Fair hair (HP:0002286)2.72560490
24Pachygyria (HP:0001302)2.70057771
25Tongue fasciculations (HP:0001308)2.69089231
26Right ventricular cardiomyopathy (HP:0011663)2.62929065
27Woolly hair (HP:0002224)2.61556046
28Erythroderma (HP:0001019)2.61418829
29Exotropia (HP:0000577)2.61154388
30Volvulus (HP:0002580)2.60927414
31Aplasia cutis congenita (HP:0001057)2.57468617
32Retinal dysplasia (HP:0007973)2.56804154
33Morphological abnormality of the middle ear (HP:0008609)2.56124815
34Broad-based gait (HP:0002136)2.53785490
35Down-sloping shoulders (HP:0200021)2.53647008
36Short 4th metacarpal (HP:0010044)2.52387534
37Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.52387534
38Bronchomalacia (HP:0002780)2.51982345
39Renal cortical cysts (HP:0000803)2.51761793
40Asymmetry of the thorax (HP:0001555)2.48236299
41Cutaneous syndactyly (HP:0012725)2.46403666
42Type II lissencephaly (HP:0007260)2.41574415
43Fragile skin (HP:0001030)2.40917088
44Shallow orbits (HP:0000586)2.39890032
45Split foot (HP:0001839)2.38888691
46Abolished electroretinogram (ERG) (HP:0000550)2.30501516
47Fragile nails (HP:0001808)2.29683155
48Severe combined immunodeficiency (HP:0004430)2.29097286
49Hypoplastic labia majora (HP:0000059)2.23354956
50Absent eyebrow (HP:0002223)2.23086992
51Oligodactyly (HP:0012165)2.22862588
52Hematochezia (HP:0002573)2.22682105
53Chin dimple (HP:0010751)2.21939074
54Buphthalmos (HP:0000557)2.21510181
55Midline defect of the nose (HP:0004122)2.20321844
56Muscle fibrillation (HP:0010546)2.19427603
57Ulnar claw (HP:0001178)2.16779645
58Absent phalangeal crease (HP:0006109)2.16562456
59Gait imbalance (HP:0002141)2.14446073
60Thyroid-stimulating hormone excess (HP:0002925)2.13798381
61Stenosis of the external auditory canal (HP:0000402)2.13414397
62Aplasia/Hypoplasia of the tongue (HP:0010295)2.12335192
63Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.11888577
64Enlarged penis (HP:0000040)2.11099287
65Drooling (HP:0002307)2.10715753
66Sclerocornea (HP:0000647)2.10135432
67Short tibia (HP:0005736)2.08478984
68Short hallux (HP:0010109)2.07731574
69Cystic liver disease (HP:0006706)2.07268170
70Gastrointestinal atresia (HP:0002589)2.06243200
71Congenital primary aphakia (HP:0007707)2.04694083
72Postaxial hand polydactyly (HP:0001162)2.04366057
73Aplasia/Hypoplasia of the tibia (HP:0005772)2.04330644
74Popliteal pterygium (HP:0009756)2.03675613
75Persistence of primary teeth (HP:0006335)2.03096878
76Barrel-shaped chest (HP:0001552)2.02707980
77Congenital hepatic fibrosis (HP:0002612)2.02629636
78Abnormality of the 2nd finger (HP:0004100)2.01183313
79Urethral obstruction (HP:0000796)2.00803998
80Onycholysis (HP:0001806)2.00782589
81Abnormality of proline metabolism (HP:0010907)2.00378407
82Hydroxyprolinuria (HP:0003080)2.00378407
83Abnormality of the labia majora (HP:0012881)2.00179926
84Congenital, generalized hypertrichosis (HP:0004540)2.00139798
853-Methylglutaconic aciduria (HP:0003535)1.99095215
86Abnormality of the labia minora (HP:0012880)1.99026215
87Overgrowth (HP:0001548)1.98436284
88Hemiparesis (HP:0001269)1.95842892
89Cerebellar dysplasia (HP:0007033)1.93952875
90Subacute progressive viral hepatitis (HP:0006572)1.93722456
91Dry hair (HP:0011359)1.93566685
92Natal tooth (HP:0000695)1.92798686
93Curly hair (HP:0002212)1.92704355
94Hyperglycinemia (HP:0002154)1.92671164
95Abnormality of the distal phalanx of the thumb (HP:0009617)1.92390352
96Renal hypoplasia (HP:0000089)1.90949542
97Esophageal atresia (HP:0002032)1.90103801
98Inability to walk (HP:0002540)1.89564072
99Camptodactyly of toe (HP:0001836)1.89482434
100Abnormality of the middle phalanges of the toes (HP:0010183)1.89397480
101Hypoplasia of the capital femoral epiphysis (HP:0003090)1.89226850
102Optic nerve hypoplasia (HP:0000609)1.88872507
103Absent/shortened dynein arms (HP:0200106)1.88200072
104Dynein arm defect of respiratory motile cilia (HP:0012255)1.88200072
105Growth hormone excess (HP:0000845)1.87983352
106Bifid tongue (HP:0010297)1.87403840
107Abnormal ciliary motility (HP:0012262)1.86967549
108Genital tract atresia (HP:0001827)1.86904773
109Aplasia involving bones of the extremities (HP:0009825)1.86279154
110Aplasia involving bones of the upper limbs (HP:0009823)1.86279154
111Aplasia of the phalanges of the hand (HP:0009802)1.86279154
112Renal dysplasia (HP:0000110)1.85700899
113Lipid accumulation in hepatocytes (HP:0006561)1.85022770
114Tubular atrophy (HP:0000092)1.83801612
115Abnormal respiratory motile cilium morphology (HP:0005938)1.83782027
116Abnormal respiratory epithelium morphology (HP:0012253)1.83782027
117Short nail (HP:0001799)1.83359382
118Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.83311942
119Excessive salivation (HP:0003781)1.82862818
120Aortic aneurysm (HP:0004942)1.82450490
121Advanced eruption of teeth (HP:0006288)1.81986316
122Hypotrichosis (HP:0001006)1.81968900
123Abnormal finger flexion creases (HP:0006143)1.81963373
124Lissencephaly (HP:0001339)1.81788127
125Abnormality of the 4th metacarpal (HP:0010012)1.81647458
126Xerostomia (HP:0000217)1.80433451
127Stomach cancer (HP:0012126)1.79716576
128Abnormality of the parietal bone (HP:0002696)1.79493355
129Tubulointerstitial nephritis (HP:0001970)1.79317614
130Narrow forehead (HP:0000341)1.79268472
131Attenuation of retinal blood vessels (HP:0007843)1.79248547
132Delayed CNS myelination (HP:0002188)1.77917734
133Vascular tortuosity (HP:0004948)1.77430892
134Gaze-evoked nystagmus (HP:0000640)1.77284996
135Clumsiness (HP:0002312)1.77170211
136Nephrogenic diabetes insipidus (HP:0009806)1.77085429
137Prostate neoplasm (HP:0100787)1.76921668
138Hypoplasia of dental enamel (HP:0006297)1.76685388
139Abnormality of the frontal sinuses (HP:0002687)1.76084446
140Abnormality of the nasolacrimal system (HP:0000614)1.74524894
141Thick nail (HP:0001805)1.74091536
142Abnormality of the gastric mucosa (HP:0004295)1.74070007
143Abnormality of the lacrimal duct (HP:0011481)1.73150783
144Abnormal pancreas size (HP:0012094)1.72700025
145Tubulointerstitial abnormality (HP:0001969)1.71603113
146Preaxial hand polydactyly (HP:0001177)1.71166611
147Eosinophilia (HP:0001880)1.70861389
148Hyperglycinuria (HP:0003108)1.70371929
149Abnormality of the phalanges of the 2nd finger (HP:0009541)1.70334241
150Labial hypoplasia (HP:0000066)1.69686380
151Aplasia/hypoplasia of the uterus (HP:0008684)1.69354578
152Hepatic necrosis (HP:0002605)1.69091258
153Abnormality of calcium-phosphate metabolism (HP:0100530)1.69081576
154Adactyly (HP:0009776)1.68942590
155Bladder neoplasm (HP:0009725)1.68763109
156Bladder carcinoma (HP:0002862)1.68763109
157Plantar hyperkeratosis (HP:0007556)1.68747516
158Abnormality of lateral ventricle (HP:0030047)1.68512059
159Bone cyst (HP:0012062)1.68436205
160Absent epiphyses (HP:0010577)1.68259042
161Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.68259042
162Median cleft lip (HP:0000161)1.68212638
163Venous abnormality (HP:0002624)1.68204829
164Tarsal synostosis (HP:0008368)1.68139121
165Colon cancer (HP:0003003)1.68126837
166Increased corneal curvature (HP:0100692)1.68051218
167Keratoconus (HP:0000563)1.68051218
168Venous insufficiency (HP:0005293)1.67593592
169Abnormality of the axillary hair (HP:0100134)1.67448523
170Abnormality of secondary sexual hair (HP:0009888)1.67448523
171Pendular nystagmus (HP:0012043)1.66953858
172Vaginal atresia (HP:0000148)1.66866337
173Congenital glaucoma (HP:0001087)1.66823880
174Synostosis involving bones of the lower limbs (HP:0009138)1.66151889
175Synostosis involving bones of the feet (HP:0009140)1.66151889
176Cranial hyperostosis (HP:0004437)1.65904330
177Occipital encephalocele (HP:0002085)1.65651841
178Postaxial foot polydactyly (HP:0001830)1.65119843
179Craniofacial hyperostosis (HP:0004493)1.64830144
180Abnormal hemoglobin (HP:0011902)1.64717593
181Broad ribs (HP:0000885)1.63901935
182Widely spaced teeth (HP:0000687)1.63133663
183Macroorchidism (HP:0000053)1.63111444
184Pterygium (HP:0001059)1.62118523
185Abnormality of dentin (HP:0010299)1.61285243
186Agitation (HP:0000713)1.60083363
187Joint contractures involving the joints of the feet (HP:0100492)1.59940800
188Flexion contracture of toe (HP:0005830)1.59940800
189Germ cell neoplasia (HP:0100728)1.59688442
190Broad metatarsal (HP:0001783)1.59571322
191Hepatoblastoma (HP:0002884)1.58933676
192Arterial tortuosity (HP:0005116)1.58838818
193Skin pits (HP:0100276)1.58808787
194Bifid scrotum (HP:0000048)1.58707316
195Wormian bones (HP:0002645)1.56860683
196Transitional cell carcinoma of the bladder (HP:0006740)1.55583646

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHB24.11661442
2EPHA33.92589897
3TIE13.36525084
4FRK3.31059001
5ERBB32.59979524
6ZAK2.49882409
7BCKDK2.41407310
8FER2.29272070
9MKNK22.25534893
10LATS12.22523931
11MAP4K22.08084641
12MET2.06287891
13PLK22.05352063
14LATS22.05010017
15MAPK152.02346140
16INSRR1.91071377
17MAP3K141.89887094
18PNCK1.88957939
19NLK1.82030960
20EPHB11.75495611
21FGFR21.72883060
22TGFBR21.63003922
23DMPK1.62713942
24EIF2AK31.60673749
25FLT31.58119146
26TNIK1.55937163
27VRK11.54503499
28STK38L1.53904577
29DYRK21.51969953
30PINK11.49623788
31MARK11.46400040
32MAP2K21.45562286
33RIPK11.45510195
34WNK31.43593220
35KDR1.42299170
36FGFR41.42263661
37MAP3K21.37473539
38MKNK11.36192188
39IRAK11.34649140
40ADRBK21.33457212
41* BMPR1B1.31080817
42FGFR31.29726500
43PTK61.27443193
44PIK3CA1.22576785
45PLK31.19736971
46CSNK1G11.18317839
47MST1R1.17734477
48KIT1.17635595
49PTK21.15461739
50NUAK11.14707060
51CHUK1.14591112
52HIPK21.14550653
53CSNK1G31.10698039
54TRIM281.10693874
55WNK41.09354221
56OBSCN1.08458931
57CSNK1G21.07950027
58CASK1.06494826
59CSNK1A1L1.04160465
60TAF11.03253787
61RPS6KA21.00615284
62MAP2K71.00481915
63ERBB40.99671795
64BMPR20.99516875
65PDGFRA0.98383766
66PLK40.97452555
67AKT30.92893718
68ACVR1B0.89964774
69NTRK20.88426905
70VRK20.87869461
71STK390.87207611
72SGK20.85882117
73MAP3K100.83217989
74ERBB20.83033952
75GRK50.82520956
76MAPK130.82153237
77RET0.82041903
78BCR0.81470961
79TLK10.78598116
80* TGFBR10.77310018
81JAK30.76859437
82MAP2K10.75731806
83MAP3K10.75699304
84DYRK1B0.75510144
85DYRK30.75357032
86MAP3K30.72524513
87PTK2B0.72310584
88MAPKAPK50.72062582
89CDK30.71547498
90PIM20.70956101
91PHKG20.70656692
92PHKG10.70656692
93GSK3A0.69435949
94TBK10.69164109
95GRK70.67097991
96CCNB10.66794626
97NEK90.65197211
98ADRBK10.64540445
99PRKD30.64224896
100PRKCG0.63640040
101TYK20.62053779
102LMTK20.61282239
103PRKCE0.60708708
104RPS6KA40.60293692
105EPHA20.60104540
106DDR20.59199741
107TEC0.59054108
108SGK30.57827297
109PLK10.57370222
110TTK0.56341005
111IGF1R0.56229569
112PAK30.55140479
113IRAK20.55082747
114TAOK30.54507745
115PRKAA20.54316526
116STK160.54182373
117OXSR10.53658171
118STK30.53539792
119PDGFRB0.53534653
120JAK10.52651715
121GRK10.52529039
122FES0.51454200
123MAPKAPK20.50716683
124SGK4940.50486858
125SGK2230.50486858
126PRKD10.49997162
127YES10.49981011
128FGFR10.49376760
129MAPKAPK30.47532258
130MST40.46566511
131CSNK1A10.46556736
132SIK20.46488717
133SRPK10.46008994
134DAPK20.45597973
135ROCK10.45253008
136MAP3K40.44886611
137CDK60.43949750
138CAMK2A0.43879482
139EPHA40.43491131
140MATK0.43091382
141SIK30.43039002
142PAK20.42439000
143ATR0.41902545
144TTN0.41127337
145DAPK30.40996528
146PKN10.40872083
147RPS6KA50.40458436
148MAP3K60.39608617
149KSR10.39597186
150* ATM0.39169983
151CDC70.38466555
152TRPM70.37256511
153PRKG10.36728123
154WNK10.36076203
155TAOK10.35946232
156CAMK40.35543548
157INSR0.35229367
158IKBKE0.35216292
159LIMK10.35041565
160PRKACB0.34727702
161IKBKB0.34590217
162CAMK1D0.33854838
163CHEK20.31921596
164CSNK1D0.31707126
165CAMK2D0.30197118
166MAP3K90.29392787
167CSNK1E0.28646461
168EGFR0.27218242
169MARK30.26268241
170DYRK1A0.26251369
171PRKCI0.25341097
172PRKACA0.24976363

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.70833025
2Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.58342293
3Nitrogen metabolism_Homo sapiens_hsa009102.55249048
4Butanoate metabolism_Homo sapiens_hsa006502.35113639
5Caffeine metabolism_Homo sapiens_hsa002322.17912430
6Basal transcription factors_Homo sapiens_hsa030222.13526933
7Phototransduction_Homo sapiens_hsa047442.00953679
8Selenocompound metabolism_Homo sapiens_hsa004501.92290582
9RNA degradation_Homo sapiens_hsa030181.91970043
10Adherens junction_Homo sapiens_hsa045201.87175998
11Basal cell carcinoma_Homo sapiens_hsa052171.83349035
12Protein export_Homo sapiens_hsa030601.81036210
13ECM-receptor interaction_Homo sapiens_hsa045121.79948716
14Propanoate metabolism_Homo sapiens_hsa006401.79524267
15alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.75431729
16Fanconi anemia pathway_Homo sapiens_hsa034601.72750690
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.70664981
18Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.67486014
19Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.64876285
20Hedgehog signaling pathway_Homo sapiens_hsa043401.54790279
21Non-homologous end-joining_Homo sapiens_hsa034501.54133357
22* Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.52760593
23Linoleic acid metabolism_Homo sapiens_hsa005911.49115540
24Focal adhesion_Homo sapiens_hsa045101.47890603
25Oxidative phosphorylation_Homo sapiens_hsa001901.47752879
26Asthma_Homo sapiens_hsa053101.47636549
27Axon guidance_Homo sapiens_hsa043601.47033235
28Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.45165132
29Parkinsons disease_Homo sapiens_hsa050121.43997216
30Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.43684532
31AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.42836872
32Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.42327539
33Endometrial cancer_Homo sapiens_hsa052131.40688744
34TNF signaling pathway_Homo sapiens_hsa046681.39395746
35* TGF-beta signaling pathway_Homo sapiens_hsa043501.37425141
36Pentose and glucuronate interconversions_Homo sapiens_hsa000401.35442009
37Maturity onset diabetes of the young_Homo sapiens_hsa049501.35239257
38Primary bile acid biosynthesis_Homo sapiens_hsa001201.34014703
39* Hippo signaling pathway_Homo sapiens_hsa043901.33399455
40Intestinal immune network for IgA production_Homo sapiens_hsa046721.32948204
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.32105104
42Proteoglycans in cancer_Homo sapiens_hsa052051.30445407
43Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.29876810
44Olfactory transduction_Homo sapiens_hsa047401.28214236
45Dorso-ventral axis formation_Homo sapiens_hsa043201.27825347
46Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.27689694
47Toxoplasmosis_Homo sapiens_hsa051451.27139415
48Melanoma_Homo sapiens_hsa052181.27095618
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.25229574
50Homologous recombination_Homo sapiens_hsa034401.23747994
51Amoebiasis_Homo sapiens_hsa051461.22565484
52Melanogenesis_Homo sapiens_hsa049161.22370346
53Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.19378202
54Rap1 signaling pathway_Homo sapiens_hsa040151.18213864
55Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.17717454
56Prostate cancer_Homo sapiens_hsa052151.17006396
57Peroxisome_Homo sapiens_hsa041461.14377431
58Nicotine addiction_Homo sapiens_hsa050331.14155497
59Prolactin signaling pathway_Homo sapiens_hsa049171.13530260
60Cardiac muscle contraction_Homo sapiens_hsa042601.10609369
61Pathways in cancer_Homo sapiens_hsa052001.09679530
62Renal cell carcinoma_Homo sapiens_hsa052111.08385579
63Pertussis_Homo sapiens_hsa051331.07989154
64Steroid hormone biosynthesis_Homo sapiens_hsa001401.06170581
65Pancreatic cancer_Homo sapiens_hsa052121.06036554
66Small cell lung cancer_Homo sapiens_hsa052221.04787720
67Wnt signaling pathway_Homo sapiens_hsa043101.04473302
68Osteoclast differentiation_Homo sapiens_hsa043801.03774714
69Systemic lupus erythematosus_Homo sapiens_hsa053221.03108167
70Colorectal cancer_Homo sapiens_hsa052101.00317180
71Estrogen signaling pathway_Homo sapiens_hsa049150.99850628
72Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.99490853
73Gap junction_Homo sapiens_hsa045400.98461392
74Huntingtons disease_Homo sapiens_hsa050160.97945697
75MicroRNAs in cancer_Homo sapiens_hsa052060.97681638
76Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.97359639
77Chronic myeloid leukemia_Homo sapiens_hsa052200.97130323
78Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.96655800
79Bladder cancer_Homo sapiens_hsa052190.96553199
80Salmonella infection_Homo sapiens_hsa051320.96124423
81Renin secretion_Homo sapiens_hsa049240.95961973
82Dilated cardiomyopathy_Homo sapiens_hsa054140.95595368
83Tryptophan metabolism_Homo sapiens_hsa003800.94921479
84Leishmaniasis_Homo sapiens_hsa051400.94767933
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.93848981
86Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.93647060
87RNA polymerase_Homo sapiens_hsa030200.93571648
88Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.92346290
89African trypanosomiasis_Homo sapiens_hsa051430.92218185
90Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.91888180
91Toll-like receptor signaling pathway_Homo sapiens_hsa046200.91562887
92MAPK signaling pathway_Homo sapiens_hsa040100.89549474
93PI3K-Akt signaling pathway_Homo sapiens_hsa041510.88746136
94Leukocyte transendothelial migration_Homo sapiens_hsa046700.87916408
95GABAergic synapse_Homo sapiens_hsa047270.87800894
96GnRH signaling pathway_Homo sapiens_hsa049120.87236601
97Glioma_Homo sapiens_hsa052140.86696102
98Ras signaling pathway_Homo sapiens_hsa040140.85089118
99Thyroid cancer_Homo sapiens_hsa052160.84779389
100Protein digestion and absorption_Homo sapiens_hsa049740.82356642
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.82193048
102Tight junction_Homo sapiens_hsa045300.82134341
103Alzheimers disease_Homo sapiens_hsa050100.81898696
104Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.81237299
105Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.81219909
106Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.80612896
107Notch signaling pathway_Homo sapiens_hsa043300.80383354
108* Transcriptional misregulation in cancer_Homo sapiens_hsa052020.80006484
109Cocaine addiction_Homo sapiens_hsa050300.79914341
110Sulfur relay system_Homo sapiens_hsa041220.79887609
111Base excision repair_Homo sapiens_hsa034100.79823278
112Alcoholism_Homo sapiens_hsa050340.79320318
113Ovarian steroidogenesis_Homo sapiens_hsa049130.79250235
114Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.79129073
115Oocyte meiosis_Homo sapiens_hsa041140.79105185
116Type II diabetes mellitus_Homo sapiens_hsa049300.78889733
117Viral myocarditis_Homo sapiens_hsa054160.78320544
118Platelet activation_Homo sapiens_hsa046110.77699227
119Glutamatergic synapse_Homo sapiens_hsa047240.75599190
120Mismatch repair_Homo sapiens_hsa034300.74311509
121Hepatitis C_Homo sapiens_hsa051600.73916297
122Retinol metabolism_Homo sapiens_hsa008300.73875891
123Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.72386555
124Fatty acid degradation_Homo sapiens_hsa000710.72365668
125Hepatitis B_Homo sapiens_hsa051610.71669091
126Regulation of actin cytoskeleton_Homo sapiens_hsa048100.71617574
127Malaria_Homo sapiens_hsa051440.69784560
128Taste transduction_Homo sapiens_hsa047420.69643375
129Cysteine and methionine metabolism_Homo sapiens_hsa002700.68484167
130Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.68366785
131Jak-STAT signaling pathway_Homo sapiens_hsa046300.68296370
132beta-Alanine metabolism_Homo sapiens_hsa004100.68080700
133Purine metabolism_Homo sapiens_hsa002300.68034226
134Influenza A_Homo sapiens_hsa051640.67767416
135Prion diseases_Homo sapiens_hsa050200.67475526
136Circadian entrainment_Homo sapiens_hsa047130.67319818
137Phagosome_Homo sapiens_hsa041450.66922648
138Aldosterone synthesis and secretion_Homo sapiens_hsa049250.66784895
139Ether lipid metabolism_Homo sapiens_hsa005650.66607138
140Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.66476180
141ErbB signaling pathway_Homo sapiens_hsa040120.66129225
142Nucleotide excision repair_Homo sapiens_hsa034200.66124123
143Arachidonic acid metabolism_Homo sapiens_hsa005900.65715676
144Choline metabolism in cancer_Homo sapiens_hsa052310.65576883
145Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.65092689
146NOD-like receptor signaling pathway_Homo sapiens_hsa046210.65011490
147Cholinergic synapse_Homo sapiens_hsa047250.64844632
148Insulin secretion_Homo sapiens_hsa049110.63934637
149Arginine and proline metabolism_Homo sapiens_hsa003300.63877795
150Neurotrophin signaling pathway_Homo sapiens_hsa047220.61837379
151Apoptosis_Homo sapiens_hsa042100.61103771
152Acute myeloid leukemia_Homo sapiens_hsa052210.60879398
153Regulation of autophagy_Homo sapiens_hsa041400.60171352
154Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.59590940
155SNARE interactions in vesicular transport_Homo sapiens_hsa041300.59537810
156NF-kappa B signaling pathway_Homo sapiens_hsa040640.59426281
157Morphine addiction_Homo sapiens_hsa050320.59356410
158Long-term depression_Homo sapiens_hsa047300.59259104
159Serotonergic synapse_Homo sapiens_hsa047260.58656938
160Sulfur metabolism_Homo sapiens_hsa009200.58438467
161Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.58162378
162Rheumatoid arthritis_Homo sapiens_hsa053230.57311207
163Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56851849
164Dopaminergic synapse_Homo sapiens_hsa047280.55650222
165HTLV-I infection_Homo sapiens_hsa051660.55171064
166Steroid biosynthesis_Homo sapiens_hsa001000.55082405
167Chemical carcinogenesis_Homo sapiens_hsa052040.54944661
168Fatty acid metabolism_Homo sapiens_hsa012120.54012289
169Pancreatic secretion_Homo sapiens_hsa049720.53740299
170Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.50945937
171Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.48813993
172Bile secretion_Homo sapiens_hsa049760.47813634
173ABC transporters_Homo sapiens_hsa020100.47683419
174Metabolic pathways_Homo sapiens_hsa011000.47497560
175Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.47134525
176Vascular smooth muscle contraction_Homo sapiens_hsa042700.44430745
177Salivary secretion_Homo sapiens_hsa049700.42286905
178Calcium signaling pathway_Homo sapiens_hsa040200.40380531

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