AMBN

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 the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of collagen biosynthetic process (GO:0032967)7.91395713
2response to pheromone (GO:0019236)7.77837550
3positive regulation of collagen metabolic process (GO:0010714)7.53820812
4auditory behavior (GO:0031223)7.31159216
5regulation of collagen biosynthetic process (GO:0032965)6.97878950
6vitamin transmembrane transport (GO:0035461)6.32244882
7regulation of collagen metabolic process (GO:0010712)6.08575422
8endodermal cell differentiation (GO:0035987)5.93153485
9head development (GO:0060322)5.88043801
10positive regulation of biomineral tissue development (GO:0070169)5.84460826
11proline transport (GO:0015824)5.75690387
12bone trabecula formation (GO:0060346)5.62435512
13positive regulation of multicellular organismal metabolic process (GO:0044253)5.56815682
14alanine transport (GO:0032328)5.43677321
15extracellular matrix disassembly (GO:0022617)5.33909542
16regulation of biomineral tissue development (GO:0070167)5.25856820
17mechanosensory behavior (GO:0007638)5.19570762
18cell-substrate junction assembly (GO:0007044)5.17472853
19otic vesicle formation (GO:0030916)4.95067406
20epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)4.85188657
21diaphragm development (GO:0060539)4.67342240
22regulation of multicellular organismal metabolic process (GO:0044246)4.64287104
23chondrocyte differentiation (GO:0002062)4.54059409
24lung vasculature development (GO:0060426)4.50998181
25lung epithelium development (GO:0060428)4.45651151
26response to auditory stimulus (GO:0010996)4.42850818
27ear development (GO:0043583)4.35776587
28epithelial to mesenchymal transition (GO:0001837)4.32735083
29somite development (GO:0061053)4.32590144
30C4-dicarboxylate transport (GO:0015740)4.32459535
31resolution of meiotic recombination intermediates (GO:0000712)4.16395508
32regulation of female gonad development (GO:2000194)4.13984497
33skeletal muscle organ development (GO:0060538)4.07553190
34protein K11-linked deubiquitination (GO:0035871)4.04808610
35L-methionine biosynthetic process from methylthioadenosine (GO:0019509)4.03778273
36ovulation cycle (GO:0042698)3.99050874
37positive regulation of hair cycle (GO:0042635)3.81738696
38positive regulation of hair follicle development (GO:0051798)3.81738696
39presynaptic membrane assembly (GO:0097105)3.78635962
40negative regulation of transcription regulatory region DNA binding (GO:2000678)3.77297914
41kinetochore organization (GO:0051383)3.71842426
42eyelid development in camera-type eye (GO:0061029)3.67886606
43short-term memory (GO:0007614)3.64518136
44collagen catabolic process (GO:0030574)3.58382230
45lateral sprouting from an epithelium (GO:0060601)3.57121576
46meiotic chromosome segregation (GO:0045132)3.56049550
47somatic stem cell division (GO:0048103)3.53279505
48cell proliferation in forebrain (GO:0021846)3.52157037
49pseudouridine synthesis (GO:0001522)3.51752664
50pharyngeal system development (GO:0060037)3.47473839
51preassembly of GPI anchor in ER membrane (GO:0016254)3.46605084
52collagen metabolic process (GO:0032963)3.45974575
53lateral ventricle development (GO:0021670)3.45010415
54DNA topological change (GO:0006265)3.44035231
55DNA double-strand break processing (GO:0000729)3.40804670
56mitochondrial respiratory chain complex assembly (GO:0033108)3.38852632
57peptidyl-histidine modification (GO:0018202)3.33689512
58regulation of hair follicle development (GO:0051797)3.32603193
59protein complex biogenesis (GO:0070271)3.32364921
60multicellular organismal catabolic process (GO:0044243)3.27699507
61multicellular organismal macromolecule metabolic process (GO:0044259)3.23745770
62respiratory chain complex IV assembly (GO:0008535)3.23449569
63mitotic metaphase plate congression (GO:0007080)3.17698421
64L-methionine salvage (GO:0071267)3.13327758
65L-methionine biosynthetic process (GO:0071265)3.13327758
66amino acid salvage (GO:0043102)3.13327758
67metaphase plate congression (GO:0051310)3.09916604
68mitochondrial respiratory chain complex I assembly (GO:0032981)3.09567616
69NADH dehydrogenase complex assembly (GO:0010257)3.09567616
70mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.09567616
71L-serine transport (GO:0015825)3.07982808
72C-terminal protein lipidation (GO:0006501)3.04661067
73regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.03674306
74multicellular organismal metabolic process (GO:0044236)3.03453022
75replication fork processing (GO:0031297)3.03346961
76nerve growth factor signaling pathway (GO:0038180)3.02376452
77sodium ion export (GO:0071436)3.01985251
78forebrain morphogenesis (GO:0048853)3.01907737
79endochondral ossification (GO:0001958)3.01574000
80replacement ossification (GO:0036075)3.01574000
81negative regulation of protein localization to plasma membrane (GO:1903077)3.01222299
82chaperone-mediated protein transport (GO:0072321)3.00946463
83histone H2A acetylation (GO:0043968)3.00569047
84positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.00550443
85regulation of organ morphogenesis (GO:2000027)3.00453172
86tooth mineralization (GO:0034505)26.4842445
87inositol phosphate-mediated signaling (GO:0048016)2.99336516
88cranial suture morphogenesis (GO:0060363)2.98481358
89osteoblast differentiation (GO:0001649)2.96391604
90presynaptic membrane organization (GO:0097090)2.95025558
91adrenal gland development (GO:0030325)2.93562974
92DNA damage response, detection of DNA damage (GO:0042769)2.92483392
93inner ear receptor stereocilium organization (GO:0060122)2.90787446
94outer ear morphogenesis (GO:0042473)2.89900617
95negative regulation of membrane potential (GO:0045837)2.88508239
96response to acidic pH (GO:0010447)2.87783323
97cell wall macromolecule catabolic process (GO:0016998)2.86552078
98C-terminal protein amino acid modification (GO:0018410)2.85466674
99cytochrome complex assembly (GO:0017004)2.85425617
100endocardial cushion morphogenesis (GO:0003203)2.83633382
101mesenchymal-epithelial cell signaling (GO:0060638)2.78618746
102kinetochore assembly (GO:0051382)2.78025369
103embryonic digestive tract development (GO:0048566)2.76841607
104ether lipid metabolic process (GO:0046485)2.76642457
105female genitalia development (GO:0030540)2.76615251
106protein heterotetramerization (GO:0051290)2.75667844
107DNA ligation (GO:0006266)2.75203680
108smooth muscle tissue development (GO:0048745)2.74669548
109response to vitamin D (GO:0033280)2.74194458
110craniofacial suture morphogenesis (GO:0097094)2.74160508
111protein K6-linked ubiquitination (GO:0085020)2.73269572
112negative regulation of smooth muscle cell differentiation (GO:0051151)2.73239242
113ncRNA 3-end processing (GO:0043628)2.73124259
114response to parathyroid hormone (GO:0071107)2.72839998
115negative regulation of Notch signaling pathway (GO:0045746)2.72423955
116establishment of tissue polarity (GO:0007164)2.71731480
117establishment of planar polarity (GO:0001736)2.71731480
118regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.71328158
119cellular ketone body metabolic process (GO:0046950)2.71144597
120cardiovascular system development (GO:0072358)2.70910535
121* organ morphogenesis (GO:0009887)2.70504867
122aldehyde catabolic process (GO:0046185)2.70383865
123lung-associated mesenchyme development (GO:0060484)2.69655737
124glycerophospholipid catabolic process (GO:0046475)2.68590208
125regulation of coenzyme metabolic process (GO:0051196)2.67130814
126regulation of cofactor metabolic process (GO:0051193)2.67130814
127retinoic acid metabolic process (GO:0042573)2.64941769
128protein polyglutamylation (GO:0018095)2.64805471
129chondrocyte development (GO:0002063)2.64695324
130synapsis (GO:0007129)2.63315778
131branching involved in salivary gland morphogenesis (GO:0060445)2.63175412
132cellular potassium ion homeostasis (GO:0030007)2.62565857
133heart valve formation (GO:0003188)2.62106847
134skeletal muscle fiber development (GO:0048741)2.61888996
135protein localization to endosome (GO:0036010)2.60807530
136digestive tract morphogenesis (GO:0048546)2.59616473
137intraciliary transport (GO:0042073)2.59156646
138regulation of vasculogenesis (GO:2001212)2.58919747
139ventricular cardiac muscle cell development (GO:0055015)2.58506228
140regulation of neuron migration (GO:2001222)2.54662779
141regulation of acyl-CoA biosynthetic process (GO:0050812)2.51227352
142DNA unwinding involved in DNA replication (GO:0006268)2.50484070
143water-soluble vitamin biosynthetic process (GO:0042364)2.49753991
144midgut development (GO:0007494)2.47260657
145iron ion import (GO:0097286)2.46948897
146regulation of exit from mitosis (GO:0007096)2.46464772
147response to xenobiotic stimulus (GO:0009410)2.46032233
148outflow tract septum morphogenesis (GO:0003148)2.45610111
149cell adhesion mediated by integrin (GO:0033627)2.44976818
150mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.43819044
151polyamine metabolic process (GO:0006595)2.42147721
152regulation of mesenchymal cell apoptotic process (GO:2001053)2.41789861
153establishment of chromosome localization (GO:0051303)2.40407774
154vitamin transport (GO:0051180)2.39675790
155male meiosis (GO:0007140)2.39384054
156glycerol ether metabolic process (GO:0006662)2.39373707
157peroxisome fission (GO:0016559)2.39268038
158serine transport (GO:0032329)2.39075414
159positive regulation of Rho protein signal transduction (GO:0035025)2.36358028
160extracellular matrix organization (GO:0030198)2.33945676
161osteoblast development (GO:0002076)2.33795281
162hematopoietic stem cell proliferation (GO:0071425)2.33614667
163extracellular structure organization (GO:0043062)2.32968326
164mesenchymal cell proliferation (GO:0010463)2.32726197
165regulation of synapse structural plasticity (GO:0051823)2.31751586
166lens fiber cell differentiation (GO:0070306)2.29033686
167myotube cell development (GO:0014904)2.23974772
168cell junction organization (GO:0034330)2.22484365
169embryonic hindlimb morphogenesis (GO:0035116)2.20549666
170planar cell polarity pathway involved in neural tube closure (GO:0090179)2.19889308
171stem cell division (GO:0017145)2.18235103
172bundle of His cell to Purkinje myocyte communication (GO:0086069)2.17119177
173negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.16030747
174positive regulation of catenin import into nucleus (GO:0035413)2.14883742
175leukocyte aggregation (GO:0070486)2.13855466
176cell proliferation involved in metanephros development (GO:0072203)2.13070534
177renal system development (GO:0072001)2.12400398
178regulation of hair cycle (GO:0042634)2.12020491
179positive regulation of bone remodeling (GO:0046852)2.10312987
180positive regulation of bone resorption (GO:0045780)2.10312987
181cell surface receptor signaling pathway involved in heart development (GO:0061311)2.08354554
182epidermis development (GO:0008544)2.06352403
183positive regulation of osteoblast differentiation (GO:0045669)2.05267244
184dendrite morphogenesis (GO:0048813)2.03592490
185virion attachment to host cell (GO:0019062)2.03584126
186adhesion of symbiont to host cell (GO:0044650)2.03584126
187regulation of superoxide metabolic process (GO:0090322)2.03484669
188regulation of transforming growth factor beta2 production (GO:0032909)2.03263463
189regulation of superoxide anion generation (GO:0032928)2.02813008
190hemidesmosome assembly (GO:0031581)16.3002475
191* odontogenesis of dentin-containing tooth (GO:0042475)14.8318267
192positive regulation of odontogenesis (GO:0042482)14.7186282
193regulation of odontogenesis of dentin-containing tooth (GO:0042487)12.5640262
194regulation of odontogenesis (GO:0042481)12.4662994
195* odontogenesis (GO:0042476)11.0392545
196* biomineral tissue development (GO:0031214)10.4903010

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human9.10775957
2TRIM28_21343339_ChIP-Seq_HEK293_Human5.22133806
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.63507864
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.20339601
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.03141081
6GBX2_23144817_ChIP-Seq_PC3_Human2.90145828
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.78473323
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.70613895
9ZNF274_21170338_ChIP-Seq_K562_Hela2.63407714
10MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.62576535
11SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.60449417
12HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.40161030
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.32062617
14ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.32054789
15* HTT_18923047_ChIP-ChIP_STHdh_Human2.30882687
16EST1_17652178_ChIP-ChIP_JURKAT_Human2.30856825
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.27916813
18E2F4_17652178_ChIP-ChIP_JURKAT_Human2.27414536
19IGF1R_20145208_ChIP-Seq_DFB_Human2.17300749
20TAF15_26573619_Chip-Seq_HEK293_Human2.13546904
21ZFP57_27257070_Chip-Seq_ESCs_Mouse2.10346626
22FOXM1_23109430_ChIP-Seq_U2OS_Human2.09781281
23ESR1_21235772_ChIP-Seq_MCF-7_Human2.06290893
24JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.04540896
25SALL1_21062744_ChIP-ChIP_HESCs_Human1.95216836
26ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.94960962
27PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93048642
28ETS1_20019798_ChIP-Seq_JURKAT_Human1.92926165
29CLOCK_20551151_ChIP-Seq_293T_Human1.90504800
30POU5F1_16153702_ChIP-ChIP_HESCs_Human1.89018128
31EZH2_18974828_ChIP-Seq_MESCs_Mouse1.84300945
32RNF2_18974828_ChIP-Seq_MESCs_Mouse1.84300945
33FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.83880506
34ELK1_19687146_ChIP-ChIP_HELA_Human1.83544436
35MYC_18940864_ChIP-ChIP_HL60_Human1.83446896
36P300_19829295_ChIP-Seq_ESCs_Human1.80832927
37POU3F2_20337985_ChIP-ChIP_501MEL_Human1.80268462
38SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.76316366
39NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.75715765
40CBX2_27304074_Chip-Seq_ESCs_Mouse1.72560541
41NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.70804662
42FUS_26573619_Chip-Seq_HEK293_Human1.70593850
43POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.69890448
44SOX9_24532713_ChIP-Seq_HFSC_Mouse1.68748471
45FOXP3_21729870_ChIP-Seq_TREG_Human1.67988937
46RARG_19884340_ChIP-ChIP_MEFs_Mouse1.67226634
47ZNF263_19887448_ChIP-Seq_K562_Human1.63720238
48TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.63166084
49SMAD3_21741376_ChIP-Seq_HESCs_Human1.61734842
50JARID2_20075857_ChIP-Seq_MESCs_Mouse1.61099021
51MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.60286576
52ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.59719610
53CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.56044984
54SRF_21415370_ChIP-Seq_HL-1_Mouse1.54633113
55E2F7_22180533_ChIP-Seq_HELA_Human1.54145931
56WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.53970542
57SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.53254497
58JARID2_20064375_ChIP-Seq_MESCs_Mouse1.52618569
59SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.52611685
60NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.51542339
61TTF2_22483619_ChIP-Seq_HELA_Human1.51529332
62VDR_23849224_ChIP-Seq_CD4+_Human1.50918400
63SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.48835851
64TP53_20018659_ChIP-ChIP_R1E_Mouse1.47687081
65CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.46253304
66CTBP2_25329375_ChIP-Seq_LNCAP_Human1.44966892
67CJUN_26792858_Chip-Seq_BT549_Human1.44793812
68ESR2_21235772_ChIP-Seq_MCF-7_Human1.43942506
69AR_21572438_ChIP-Seq_LNCaP_Human1.43475046
70MTF2_20144788_ChIP-Seq_MESCs_Mouse1.40427991
71PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.39819631
72IRF1_19129219_ChIP-ChIP_H3396_Human1.38696057
73ZNF217_24962896_ChIP-Seq_MCF-7_Human1.37558091
74KLF5_20875108_ChIP-Seq_MESCs_Mouse1.36403471
75NOTCH1_21737748_ChIP-Seq_TLL_Human1.36046626
76SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.35136744
77VDR_22108803_ChIP-Seq_LS180_Human1.34849373
78ZFP281_18757296_ChIP-ChIP_E14_Mouse1.34781543
79SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.34758377
80SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.34758377
81FLI1_27457419_Chip-Seq_LIVER_Mouse1.34219176
82AR_25329375_ChIP-Seq_VCAP_Human1.33833312
83EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.32661342
84TP53_22573176_ChIP-Seq_HFKS_Human1.31708033
85EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.31560409
86ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.30661100
87SUZ12_27294783_Chip-Seq_ESCs_Mouse1.30457173
88YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.30243910
89SMAD4_21799915_ChIP-Seq_A2780_Human1.30006619
90FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.29764986
91PIAS1_25552417_ChIP-Seq_VCAP_Human1.29713917
92ARNT_22903824_ChIP-Seq_MCF-7_Human1.28057768
93WT1_19549856_ChIP-ChIP_CCG9911_Human1.27901208
94SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.27819021
95JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.24972120
96EZH2_27304074_Chip-Seq_ESCs_Mouse1.24225657
97CREB1_15753290_ChIP-ChIP_HEK293T_Human1.22716101
98MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.22553994
99SOX2_16153702_ChIP-ChIP_HESCs_Human1.22005891
100DCP1A_22483619_ChIP-Seq_HELA_Human1.21699788
101NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21158779
102NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.20690961
103LXR_22158963_ChIP-Seq_LIVER_Mouse1.20553657
104GABP_19822575_ChIP-Seq_HepG2_Human1.20283653
105VDR_24787735_ChIP-Seq_THP-1_Human1.18908045
106THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.18698770
107TP53_18474530_ChIP-ChIP_U2OS_Human1.17900728
108* SMAD4_21741376_ChIP-Seq_HESCs_Human1.17667974
109KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.16922327
110CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.16060210
111RXR_22108803_ChIP-Seq_LS180_Human1.14772462
112PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.14649932
113E2F1_21310950_ChIP-Seq_MCF-7_Human1.14303198
114RXR_22158963_ChIP-Seq_LIVER_Mouse1.14265488
115BCAT_22108803_ChIP-Seq_LS180_Human1.12801519
116ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.12526517
117MYC_18555785_ChIP-Seq_MESCs_Mouse1.11294075
118PCGF2_27294783_Chip-Seq_ESCs_Mouse1.09546817
119BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08760050
120RNF2_27304074_Chip-Seq_NSC_Mouse1.08679572
121AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.08325205
122FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.07866093
123CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07657419
124CTNNB1_20460455_ChIP-Seq_HCT116_Human1.07349963
125ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.06884241
126CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06387291
127HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.06204186
128EZH2_27294783_Chip-Seq_ESCs_Mouse1.06164391
129CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.05294445
130TCF3_18692474_ChIP-Seq_MEFs_Mouse1.04672986
131TP63_23658742_ChIP-Seq_EP156T_Human1.04374209
132TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.04125854
133E2F1_18555785_ChIP-Seq_MESCs_Mouse1.02801291
134RNF2_27304074_Chip-Seq_ESCs_Mouse1.02563474
135CTBP1_25329375_ChIP-Seq_LNCAP_Human1.02422637
136RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.02398964
137ER_23166858_ChIP-Seq_MCF-7_Human1.02268543
138MYC_18358816_ChIP-ChIP_MESCs_Mouse1.02170984
139TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01510839
140TP63_19390658_ChIP-ChIP_HaCaT_Human1.00996826
141EED_16625203_ChIP-ChIP_MESCs_Mouse1.00734500
142ZFP281_27345836_Chip-Seq_ESCs_Mouse1.00407064
143SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.00331814
144THAP11_20581084_ChIP-Seq_MESCs_Mouse1.00223241
145CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.00028788
146KDM2B_26808549_Chip-Seq_K562_Human0.99788480
147ERG_21242973_ChIP-ChIP_JURKAT_Human0.99736631
148GATA2_21666600_ChIP-Seq_HMVEC_Human0.99310873
149FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.98414482
150KDM5A_27292631_Chip-Seq_BREAST_Human0.97939851
151JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.97644288
152AR_20517297_ChIP-Seq_VCAP_Human0.96740813
153RING1B_27294783_Chip-Seq_ESCs_Mouse0.96653094
154MYC_19030024_ChIP-ChIP_MESCs_Mouse0.96154634
155NRF2_20460467_ChIP-Seq_MEFs_Mouse0.95684704
156NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.95684704
157KDM2B_26808549_Chip-Seq_DND41_Human0.95671238
158IKZF1_21737484_ChIP-ChIP_HCT116_Human0.94712219
159P53_22387025_ChIP-Seq_ESCs_Mouse0.94551477
160CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.94133293
161KDM2B_26808549_Chip-Seq_SUP-B15_Human0.93885977
162P300_27058665_Chip-Seq_ZR-75-30cells_Human0.93634942
163TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.93196228
164HIF1A_21447827_ChIP-Seq_MCF-7_Human0.93052360
165UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92870260
166RING1B_27294783_Chip-Seq_NPCs_Mouse0.92748025
167TCF4_18268006_ChIP-ChIP_LS174T_Human0.92624709
168SOX2_20726797_ChIP-Seq_SW620_Human0.91722212
169PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.91681923
170POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.91564276
171TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91564276
172WT1_25993318_ChIP-Seq_PODOCYTE_Human0.91522832
173E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.91020057
174GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.90742441
175DNAJC2_21179169_ChIP-ChIP_NT2_Human0.90701252
176AR_21909140_ChIP-Seq_LNCAP_Human0.90220237
177ISL1_27105846_Chip-Seq_CPCs_Mouse0.89777156
178EP300_21415370_ChIP-Seq_HL-1_Mouse0.89078214
179EWS_26573619_Chip-Seq_HEK293_Human0.88864575
180NANOG_16153702_ChIP-ChIP_HESCs_Human0.88433043
181NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.88238932
182TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.87127417
183* CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.86947310
184UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.85607597
185EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.85592247
186AHR_22903824_ChIP-Seq_MCF-7_Human0.82414741
187KDM2B_26808549_Chip-Seq_JURKAT_Human0.82261178
188SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.81362572
189SOX2_21211035_ChIP-Seq_LN229_Gbm0.81335682
190KLF5_25053715_ChIP-Seq_YYC3_Human0.78566607
191P53_22127205_ChIP-Seq_FIBROBLAST_Human0.77091391
192GATA1_19941826_ChIP-Seq_K562_Human0.77075403
193AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.76368254

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002234_abnormal_pharynx_morphology5.49147323
2MP0004147_increased_porphyrin_level5.46064625
3MP0005275_abnormal_skin_tensile4.91347693
4MP0001849_ear_inflammation4.79362639
5MP0002653_abnormal_ependyma_morphology4.34184345
6* MP0000432_abnormal_head_morphology4.19925063
7* MP0003935_abnormal_craniofacial_develop4.14846439
8MP0004272_abnormal_basement_membrane3.59845951
9MP0008789_abnormal_olfactory_epithelium3.43602047
10MP0006292_abnormal_olfactory_placode3.31412717
11MP0008875_abnormal_xenobiotic_pharmacok3.23532393
12MP0003880_abnormal_central_pattern3.16349863
13MP0005187_abnormal_penis_morphology3.14840614
14MP0008438_abnormal_cutaneous_collagen3.06756530
15MP0003315_abnormal_perineum_morphology3.05382636
16MP0003122_maternal_imprinting2.93070560
17MP0001529_abnormal_vocalization2.91358457
18MP0000762_abnormal_tongue_morphology2.72818179
19MP0000613_abnormal_salivary_gland2.72787950
20MP0002060_abnormal_skin_morphology2.72778844
21MP0001542_abnormal_bone_strength2.68950965
22MP0000462_abnormal_digestive_system2.65522026
23MP0005394_taste/olfaction_phenotype2.63627537
24MP0005499_abnormal_olfactory_system2.63627537
25MP0002877_abnormal_melanocyte_morpholog2.63217347
26MP0008058_abnormal_DNA_repair2.29015508
27MP0000566_synostosis2.19534454
28MP0002254_reproductive_system_inflammat2.17846388
29MP0000372_irregular_coat_pigmentation2.14554028
30MP0001984_abnormal_olfaction2.12048188
31MP0002938_white_spotting2.11346386
32MP0003300_gastrointestinal_ulcer2.03494450
33MP0000538_abnormal_urinary_bladder2.01007332
34MP0002896_abnormal_bone_mineralization1.97193867
35MP0002837_dystrophic_cardiac_calcinosis1.96658857
36MP0003941_abnormal_skin_development1.93906257
37MP0002160_abnormal_reproductive_system1.91667235
38MP0009250_abnormal_appendicular_skeleto1.88472303
39MP0001299_abnormal_eye_distance/1.84569001
40MP0003693_abnormal_embryo_hatching1.84334626
41MP0000678_abnormal_parathyroid_gland1.79172716
42MP0003186_abnormal_redox_activity1.74562034
43MP0010030_abnormal_orbit_morphology1.74478101
44MP0010094_abnormal_chromosome_stability1.72375721
45MP0003121_genomic_imprinting1.64537392
46MP0003705_abnormal_hypodermis_morpholog1.63682773
47MP0005646_abnormal_pituitary_gland1.63593686
48MP0002909_abnormal_adrenal_gland1.57003159
49MP0003123_paternal_imprinting1.47334033
50MP0003566_abnormal_cell_adhesion1.47288312
51MP0002098_abnormal_vibrissa_morphology1.46449385
52MP0002736_abnormal_nociception_after1.45313894
53MP0000163_abnormal_cartilage_morphology1.43435663
54MP0000733_abnormal_muscle_development1.42250587
55MP0001293_anophthalmia1.41998589
56MP0000467_abnormal_esophagus_morphology1.37279408
57MP0000383_abnormal_hair_follicle1.33603112
58MP0005551_abnormal_eye_electrophysiolog1.33250455
59MP0006054_spinal_hemorrhage1.32442689
60MP0003718_maternal_effect1.30540836
61MP0001216_abnormal_epidermal_layer1.30503091
62MP0002163_abnormal_gland_morphology1.30132563
63MP0010234_abnormal_vibrissa_follicle1.30020092
64MP0003385_abnormal_body_wall1.27780083
65MP0010771_integument_phenotype1.26947140
66MP0000604_amyloidosis1.26853522
67MP0002009_preneoplasia1.26426362
68MP0005023_abnormal_wound_healing1.26266615
69* MP0002116_abnormal_craniofacial_bone1.25545290
70MP0010678_abnormal_skin_adnexa1.25230560
71MP0000049_abnormal_middle_ear1.23505987
72MP0005389_reproductive_system_phenotype1.22415800
73MP0000778_abnormal_nervous_system1.20818619
74MP0003136_yellow_coat_color1.19287665
75MP0000537_abnormal_urethra_morphology1.18816789
76MP0000631_abnormal_neuroendocrine_gland1.16984704
77MP0009931_abnormal_skin_appearance1.16474150
78MP0008932_abnormal_embryonic_tissue1.14886850
79MP0000026_abnormal_inner_ear1.12758588
80MP0000647_abnormal_sebaceous_gland1.12256062
81MP0004885_abnormal_endolymph1.11602676
82MP0002998_abnormal_bone_remodeling1.11052743
83MP0002796_impaired_skin_barrier1.10830625
84MP0000428_abnormal_craniofacial_morphol1.08834813
85MP0003755_abnormal_palate_morphology1.08834358
86MP0002249_abnormal_larynx_morphology1.07487621
87MP0001270_distended_abdomen1.06438759
88MP0003329_amyloid_beta_deposits1.06305644
89MP0009384_cardiac_valve_regurgitation1.05693652
90MP0005623_abnormal_meninges_morphology1.05375329
91MP0002295_abnormal_pulmonary_circulatio1.05286069
92MP0002876_abnormal_thyroid_physiology1.05127208
93MP0009046_muscle_twitch1.04079960
94MP0001485_abnormal_pinna_reflex1.02556299
95MP0005503_abnormal_tendon_morphology1.00563857
96MP0004859_abnormal_synaptic_plasticity0.99147664
97MP0009053_abnormal_anal_canal0.98355088
98MP0005379_endocrine/exocrine_gland_phen0.98118659
99MP0002127_abnormal_cardiovascular_syste0.97772760
100MP0002115_abnormal_skeleton_extremities0.97518529
101MP0003183_abnormal_peptide_metabolism0.97152990
102MP0001968_abnormal_touch/_nociception0.96160013
103MP0004185_abnormal_adipocyte_glucose0.95778902
104MP0005508_abnormal_skeleton_morphology0.95469986
105MP0006036_abnormal_mitochondrial_physio0.95297552
106MP0005253_abnormal_eye_physiology0.93906164
107MP0004133_heterotaxia0.93717087
108MP0001915_intracranial_hemorrhage0.93273590
109MP0001727_abnormal_embryo_implantation0.92883643
110MP0003279_aneurysm0.92509188
111MP0006276_abnormal_autonomic_nervous0.92191615
112MP0004215_abnormal_myocardial_fiber0.91861925
113MP0005195_abnormal_posterior_eye0.91594244
114MP0001286_abnormal_eye_development0.91432982
115MP0000579_abnormal_nail_morphology0.89202958
116MP0005410_abnormal_fertilization0.88009489
117MP0002109_abnormal_limb_morphology0.84757397
118MP0002557_abnormal_social/conspecific_i0.84205000
119MP0002233_abnormal_nose_morphology0.83414108
120MP0002177_abnormal_outer_ear0.83296444
121MP0002282_abnormal_trachea_morphology0.82204269
122MP0005248_abnormal_Harderian_gland0.82141251
123MP0001929_abnormal_gametogenesis0.82093852
124MP0005391_vision/eye_phenotype0.81818563
125MP0005647_abnormal_sex_gland0.81148998
126MP0003795_abnormal_bone_structure0.80584975
127MP0002210_abnormal_sex_determination0.79954238
128MP0003787_abnormal_imprinting0.79945314
129MP0006035_abnormal_mitochondrial_morpho0.79110182
130MP0002752_abnormal_somatic_nervous0.78418578
131MP0009780_abnormal_chondrocyte_physiolo0.75907611
132MP0005645_abnormal_hypothalamus_physiol0.75714689
133MP0009697_abnormal_copulation0.74245776
134MP0002113_abnormal_skeleton_development0.73650665
135MP0002108_abnormal_muscle_morphology0.73561115
136MP0008872_abnormal_physiological_respon0.73518015
137MP0008057_abnormal_DNA_replication0.72979525
138MP0005381_digestive/alimentary_phenotyp0.70120734
139MP0003861_abnormal_nervous_system0.69824804
140MP0004858_abnormal_nervous_system0.69806391
141MP0002090_abnormal_vision0.69765466
142MP0000653_abnormal_sex_gland0.69484150
143MP0000377_abnormal_hair_follicle0.68777393
144MP0004957_abnormal_blastocyst_morpholog0.68586168
145MP0006072_abnormal_retinal_apoptosis0.67996955
146MP0002733_abnormal_thermal_nociception0.67597526
147MP0000639_abnormal_adrenal_gland0.67556479
148MP0005332_abnormal_amino_acid0.67222263
149MP0003937_abnormal_limbs/digits/tail_de0.66735627
150MP0005395_other_phenotype0.66698513
151MP0002572_abnormal_emotion/affect_behav0.66098555
152MP0000427_abnormal_hair_cycle0.65958435
153MP0002111_abnormal_tail_morphology0.64848567
154MP0005166_decreased_susceptibility_to0.64585740
155MP0003786_premature_aging0.63667922
156MP0003942_abnormal_urinary_system0.63490446
157MP0004142_abnormal_muscle_tone0.63291263
158MP0009703_decreased_birth_body0.62407987
159MP0003448_altered_tumor_morphology0.61766628
160MP0000470_abnormal_stomach_morphology0.61709015
161MP0001346_abnormal_lacrimal_gland0.61242778
162MP0001340_abnormal_eyelid_morphology0.60625312
163MP0004270_analgesia0.60255279
164MP0002638_abnormal_pupillary_reflex0.59208792
165MP0001243_abnormal_dermal_layer0.57465878
166MP0003453_abnormal_keratinocyte_physiol0.55506684
167MP0005360_urolithiasis0.51375349
168MP0004084_abnormal_cardiac_muscle0.49387486
169MP0000343_altered_response_to0.46600421
170MP0001664_abnormal_digestion0.46050977
171MP0002932_abnormal_joint_morphology0.46001293
172MP0005390_skeleton_phenotype0.45520744
173MP0004484_altered_response_of0.44663837
174MP0002697_abnormal_eye_size0.43891685
175MP0003938_abnormal_ear_development0.43633187
176MP0001533_abnormal_skeleton_physiology0.42923024

Predicted human phenotypes

RankGene SetZ-score
1Atrophic scars (HP:0001075)8.54094559
2Milia (HP:0001056)7.79294468
3Fragile nails (HP:0001808)7.71336660
4Hypoplasia of the uterus (HP:0000013)7.00834445
5Aplasia/hypoplasia of the uterus (HP:0008684)5.73684351
6Abnormality of the aortic arch (HP:0012303)5.50939541
7Abnormality of dental color (HP:0011073)4.97727883
8Bilateral microphthalmos (HP:0007633)4.59845130
9Ectopic kidney (HP:0000086)4.46520784
10Abnormal pancreas size (HP:0012094)4.38026078
11Annular pancreas (HP:0001734)4.36750468
12Aplasia/Hypoplasia of the spleen (HP:0010451)4.22708459
13Amelogenesis imperfecta (HP:0000705)30.4043610
143-Methylglutaconic aciduria (HP:0003535)3.96995682
15Plantar hyperkeratosis (HP:0007556)3.92237676
16Increased hepatocellular lipid droplets (HP:0006565)3.70683154
17Abnormal lung lobation (HP:0002101)3.62831166
18Hypoplasia of dental enamel (HP:0006297)3.60923349
19True hermaphroditism (HP:0010459)3.42986140
20Bicornuate uterus (HP:0000813)3.34239630
21Lipid accumulation in hepatocytes (HP:0006561)3.28996300
22Renal hypoplasia (HP:0000089)3.23261306
23Sclerocornea (HP:0000647)3.08336211
24Metaphyseal cupping (HP:0003021)3.06812037
25Abnormality of midbrain morphology (HP:0002418)3.06539978
26Molar tooth sign on MRI (HP:0002419)3.06539978
27Horseshoe kidney (HP:0000085)2.92270315
28Increased intramyocellular lipid droplets (HP:0012240)2.85951946
29Renal Fanconi syndrome (HP:0001994)2.82417468
30Mitochondrial inheritance (HP:0001427)2.81727025
31Abnormal mitochondria in muscle tissue (HP:0008316)2.77641808
32Nail dystrophy (HP:0008404)2.70545437
33Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.66772343
34Acute necrotizing encephalopathy (HP:0006965)2.66635677
35Volvulus (HP:0002580)2.64125887
36Increased CSF lactate (HP:0002490)2.63758498
37Anophthalmia (HP:0000528)2.62390518
38Pancreatic fibrosis (HP:0100732)2.60725459
39Pancreatic cysts (HP:0001737)2.52026245
40Widely patent fontanelles and sutures (HP:0004492)2.49697154
41Preaxial hand polydactyly (HP:0001177)2.48627261
42Truncus arteriosus (HP:0001660)2.47830007
43Median cleft lip (HP:0000161)2.45382136
44Short 4th metacarpal (HP:0010044)2.41931054
45Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.41931054
46Hepatocellular necrosis (HP:0001404)2.39882483
47Progressive macrocephaly (HP:0004481)2.34520764
48Congenital stationary night blindness (HP:0007642)2.29029470
49Duodenal stenosis (HP:0100867)2.26893438
50Small intestinal stenosis (HP:0012848)2.26893438
51Increased muscle lipid content (HP:0009058)2.23065722
52Broad metatarsal (HP:0001783)2.20733012
53Hypodontia (HP:0000668)2.19657027
54Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.17816907
55Death in infancy (HP:0001522)2.17447737
56Abnormality of the 4th metacarpal (HP:0010012)2.16336254
57Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.10884958
58Hyperventilation (HP:0002883)2.08833725
59Type I transferrin isoform profile (HP:0003642)2.08455329
60Reduced antithrombin III activity (HP:0001976)2.06089898
61Acute encephalopathy (HP:0006846)2.04530754
62Exertional dyspnea (HP:0002875)2.03969459
63Hepatic necrosis (HP:0002605)2.01649504
64Occipital encephalocele (HP:0002085)2.00319372
65Abnormality of the labia minora (HP:0012880)2.00053175
66Onycholysis (HP:0001806)12.3420750
67Postaxial foot polydactyly (HP:0001830)1.99251111
68Abnormality of the fovea (HP:0000493)1.97540514
69Medial flaring of the eyebrow (HP:0010747)1.97379311
70Abnormality of the duodenum (HP:0002246)1.96469853
71Oligodactyly (HP:0012165)1.96328050
72Nephronophthisis (HP:0000090)1.94802034
73Short middle phalanx of the 5th finger (HP:0004220)1.94676817
74Protrusio acetabuli (HP:0003179)1.93379947
75Premature loss of primary teeth (HP:0006323)1.93056671
76Osteomalacia (HP:0002749)1.91822854
77Abnormality of renal resorption (HP:0011038)1.90301113
78Chromosomal breakage induced by crosslinking agents (HP:0003221)1.90069541
79Increased serum lactate (HP:0002151)1.89249801
80Respiratory difficulties (HP:0002880)1.88426975
81Aplasia/Hypoplasia of the tongue (HP:0010295)1.87987141
82Esophageal atresia (HP:0002032)1.86456645
83Postaxial hand polydactyly (HP:0001162)1.86375090
84Congenital diaphragmatic hernia (HP:0000776)1.82917531
85Split foot (HP:0001839)1.81997065
86Abnormal ciliary motility (HP:0012262)1.81523658
87Anencephaly (HP:0002323)1.81509571
88Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.80142570
89Bifid scrotum (HP:0000048)1.80067141
90Aplasia/Hypoplasia of the fovea (HP:0008060)1.77411277
91Hypoplasia of the fovea (HP:0007750)1.77411277
92Wide cranial sutures (HP:0010537)1.77118410
93Congenital primary aphakia (HP:0007707)1.77054165
94Shallow orbits (HP:0000586)1.76428228
95High anterior hairline (HP:0009890)1.76171422
96Bifid tongue (HP:0010297)1.76051859
97Aqueductal stenosis (HP:0002410)1.75786474
98Hyperglycinuria (HP:0003108)1.75039190
99Parakeratosis (HP:0001036)1.74168989
100Abnormality of lateral ventricle (HP:0030047)1.73382266
101Weak cry (HP:0001612)1.72788074
102Male pseudohermaphroditism (HP:0000037)1.72727500
103Abnormality of urine glucose concentration (HP:0011016)1.72712945
104Glycosuria (HP:0003076)1.72712945
105Premature rupture of membranes (HP:0001788)1.71294573
106Gait imbalance (HP:0002141)1.66626194
107Hyperphosphaturia (HP:0003109)1.66595627
108Coarctation of aorta (HP:0001680)1.66129620
109Gastrointestinal atresia (HP:0002589)1.65598538
110Turricephaly (HP:0000262)1.65444599
111Ulnar bowing (HP:0003031)1.63776668
112Testicular atrophy (HP:0000029)1.61707978
113Aplasia/Hypoplasia of the tibia (HP:0005772)1.60832322
114Abnormal blistering of the skin (HP:0008066)1.60559184
115Absent thumb (HP:0009777)1.60213963
116Pyloric stenosis (HP:0002021)1.58953219
117Abnormality of the vertebral endplates (HP:0005106)1.58564119
118Chromsome breakage (HP:0040012)1.58299281
119CNS demyelination (HP:0007305)1.57260370
120Abnormality of the frontal sinuses (HP:0002687)1.57188156
121Spondylolisthesis (HP:0003302)1.56690262
122Exotropia (HP:0000577)1.55925904
123Cystic liver disease (HP:0006706)1.54974318
124Anosmia (HP:0000458)1.54543987
125Abnormality of the costochondral junction (HP:0000919)1.54310990
126Carious teeth (HP:0000670)1.53759131
127Abnormal protein glycosylation (HP:0012346)1.53743633
128Abnormal glycosylation (HP:0012345)1.53743633
129Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.53743633
130Abnormal protein N-linked glycosylation (HP:0012347)1.53743633
131Microdontia (HP:0000691)1.53350168
132Overlapping toe (HP:0001845)1.53178629
133Short tibia (HP:0005736)1.53136071
134Abnormality of the parietal bone (HP:0002696)1.53017174
135Dehydration (HP:0001944)1.52603815
136Absent frontal sinuses (HP:0002688)1.52329166
137Hoarse voice (HP:0001609)1.50047969
138Fragile skin (HP:0001030)1.48403774
139Dental malocclusion (HP:0000689)1.45762939
140Right ventricular cardiomyopathy (HP:0011663)1.42148984
141Coronal craniosynostosis (HP:0004440)1.41354282
142Blue sclerae (HP:0000592)1.39901383
143Bronchomalacia (HP:0002780)1.38525549
144Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.36050850
145Aplasia cutis congenita (HP:0001057)1.35742930
146Vertebral clefting (HP:0008428)1.33017235
147Aortic dissection (HP:0002647)1.32939704
148Oligodontia (HP:0000677)1.32416512
149Wormian bones (HP:0002645)1.31241885
150Multiple enchondromatosis (HP:0005701)1.30710314
151Decreased skull ossification (HP:0004331)1.30544939
152Oligodactyly (hands) (HP:0001180)1.29486624
153Osteolytic defects of the hand bones (HP:0009699)1.29353651
154Osteolytic defects of the phalanges of the hand (HP:0009771)1.29353651
155Enlarged penis (HP:0000040)1.28737451
156Hypotrichosis (HP:0001006)1.23289204
157Cerebral aneurysm (HP:0004944)1.20028097
158X-linked dominant inheritance (HP:0001423)1.18584514
159Irregular vertebral endplates (HP:0003301)1.17821348
160Abnormality of primary teeth (HP:0006481)1.16444595
161Heterogeneous (HP:0001425)1.16187619
162Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.14863452
163Autoimmune thrombocytopenia (HP:0001973)1.12294941
164Short hallux (HP:0010109)1.10943140
165Abnormality of skull ossification (HP:0002703)1.10798167
166Abnormality of dentin (HP:0010299)1.09312357
167Epileptic encephalopathy (HP:0200134)1.07227284
168Abnormal vertebral ossification (HP:0100569)1.07061176
169Small epiphyses (HP:0010585)1.06930704
170Humeroradial synostosis (HP:0003041)1.06891855
171Synostosis involving the elbow (HP:0003938)1.06891855
172Mitral valve prolapse (HP:0001634)1.06173474
173Absent eyebrow (HP:0002223)1.02411959
174Alopecia of scalp (HP:0002293)1.02350883
175Bowing of the arm (HP:0006488)1.01979112
176Bowed forearm bones (HP:0003956)1.01979112
177Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.01161211
178Ridged nail (HP:0001807)0.99971608
179Aplasia/Hypoplasia of the hallux (HP:0008362)0.99836836
180Choanal stenosis (HP:0000452)0.99782595
181Hyperhidrosis (HP:0000975)0.99570524
182Short middle phalanx of finger (HP:0005819)0.98344281
183Arterial tortuosity (HP:0005116)0.97768911
184Narrow nasal bridge (HP:0000446)0.96957083
185Striae distensae (HP:0001065)0.96624828
186Syringomyelia (HP:0003396)0.93997109
187Spinal cord lesions (HP:0100561)0.93997109
188Short 5th finger (HP:0009237)0.93837851
189Camptodactyly of finger (HP:0100490)0.91861511
190Bladder diverticulum (HP:0000015)0.91636933
191Selective tooth agenesis (HP:0001592)0.90882030
192Aplasia/Hypoplasia of the 5th finger (HP:0006262)0.90873971
193Deviation of the hallux (HP:0010051)0.90801279
194Abnormality of the middle phalanx of the 5th finger (HP:0004219)0.89503454
195Rickets (HP:0002748)0.89135641
196Radial bowing (HP:0002986)0.88349190
197Femoral bowing (HP:0002980)0.88201581
198Status epilepticus (HP:0002133)0.88179182

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K26.26692280
2MAP3K36.19302027
3TRPM74.65846640
4CDK63.78761229
5BUB13.76108073
6STK163.48325116
7FRK3.06460131
8MAPK133.01867628
9WNK32.93654203
10IRAK12.68053656
11BMX2.60869122
12IRAK22.53356352
13FGFR22.47809663
14TRIB32.32051310
15CAMK42.31879342
16BCKDK2.29427324
17NEK92.27815124
18RIPK12.16526666
19BMPR1B2.15815743
20CSNK1A12.15145413
21PDGFRA2.05071901
22MST41.95521758
23DYRK1A1.86636275
24TAOK11.85129109
25CAMK11.81097529
26LRRK21.75069059
27PNCK1.72676254
28EIF2AK11.59892149
29FGFR11.58101695
30LMTK21.56669658
31TGFBR21.54935127
32DDR21.50490784
33PAK41.47246667
34PIM21.44300512
35NTRK11.38696227
36CAMK1G1.37952761
37CDK91.37097289
38CCNB11.32336979
39FER1.31548533
40EPHB11.29771099
41PKN21.28758745
42PLK11.25386651
43PRKD11.17303859
44DYRK1B1.16806331
45ZAK1.16622285
46WEE11.15172305
47RET1.14626632
48SCYL21.14047706
49TTN1.13683212
50EIF2AK31.13102318
51MAPK41.12817634
52PAK31.11524768
53PAK21.10856001
54HIPK21.08684014
55NTRK31.07084761
56EPHA41.07020326
57PTK21.06075810
58PAK61.05735751
59PTK61.04881029
60LATS11.04416088
61GSK3A1.00142295
62PRKD30.99664092
63OXSR10.98182730
64NME10.97625988
65PRKD20.94450974
66EPHA30.91994979
67KSR20.91839404
68MAP3K70.91492045
69PRKCE0.89443580
70INSRR0.89272286
71STK390.88929610
72PDK20.88387620
73GRK10.85811882
74CAMK1D0.84322811
75MAPK120.83749083
76CSNK1A1L0.82487638
77PLK30.82089338
78NUAK10.81500633
79PKN10.81452816
80FGFR40.80046306
81ADRBK20.78135339
82MAP3K20.77994076
83BRSK20.76582516
84ERN10.76257011
85CLK10.74470266
86TYRO30.73657314
87CDK40.73291822
88MINK10.73029906
89DAPK20.72787740
90PLK40.72120166
91PRKCZ0.71644741
92NEK10.71070092
93SIK10.70778241
94ATM0.70556862
95FGR0.69987231
96ATR0.68808508
97PDGFRB0.68751078
98BCR0.68102277
99UHMK10.67036249
100LATS20.66386016
101ACVR1B0.66361134
102MKNK20.65563728
103AURKB0.65435686
104CDK190.64941455
105CAMKK10.64636123
106CDC42BPA0.63955182
107CDK140.63469001
108PRKCH0.63367281
109CDK50.61218252
110ROCK20.61125130
111MAPK70.59991055
112KSR10.59874674
113DAPK30.59748896
114ERBB30.58832306
115MKNK10.58186356
116CAMK2A0.56829834
117CDK150.56506396
118TAOK30.55547949
119STK30.54951596
120PIK3CA0.54870048
121MAP3K40.54855007
122WNK40.54618205
123CDK180.53360998
124EPHB20.51677065
125TTK0.50952311
126RIPK40.50601446
127FGFR30.49461219
128CSNK1G20.49418132
129CSNK1G30.49145448
130BRD40.48980004
131SRC0.48790195
132CDK11A0.48634983
133YES10.48546865
134FYN0.48066350
135MET0.47820701
136PRKCI0.47283229
137MAP3K100.46886299
138CSNK1G10.45848782
139VRK20.45839917
140ROCK10.45558571
141PTK2B0.44763640
142SRPK10.44465325
143AURKA0.43921620
144PLK20.43311178
145NEK20.43069948
146IGF1R0.42509879
147EGFR0.41448375
148RAF10.41371732
149ADRBK10.40154907
150RPS6KA50.38995357
151VRK10.38364320
152ALK0.36711844
153STK40.36590042
154DYRK20.35994853
155ERBB20.34850950
156PRKDC0.34318741
157TNK20.33219922
158TRIM280.31994714
159STK100.31861139
160STK38L0.31732387
161PRKACB0.31365513
162MAP2K40.31201390
163CAMK2D0.31012977
164FES0.30909494
165ABL10.30729413
166NTRK20.29843318
167LIMK10.29701429
168CDK10.28764767
169PRKCG0.28627793
170CDK70.28289700
171CDC70.26910812
172STK380.26196175
173CSNK1D0.24892717

Predicted pathways (KEGG)

RankGene SetZ-score
1Caffeine metabolism_Homo sapiens_hsa002326.04294571
2ECM-receptor interaction_Homo sapiens_hsa045125.64919342
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.71895068
4Amoebiasis_Homo sapiens_hsa051463.12673012
5Folate biosynthesis_Homo sapiens_hsa007902.88540839
6Small cell lung cancer_Homo sapiens_hsa052222.85814503
7Non-homologous end-joining_Homo sapiens_hsa034502.60309203
8Oxidative phosphorylation_Homo sapiens_hsa001902.59000051
9Focal adhesion_Homo sapiens_hsa045102.44573522
10Fanconi anemia pathway_Homo sapiens_hsa034602.37443394
11Toxoplasmosis_Homo sapiens_hsa051452.21594783
12Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.02552830
13Base excision repair_Homo sapiens_hsa034101.99176075
14Cysteine and methionine metabolism_Homo sapiens_hsa002701.92670872
15Basal transcription factors_Homo sapiens_hsa030221.89521127
16Basal cell carcinoma_Homo sapiens_hsa052171.89331563
17Parkinsons disease_Homo sapiens_hsa050121.88828307
18Nitrogen metabolism_Homo sapiens_hsa009101.86281962
19Arginine and proline metabolism_Homo sapiens_hsa003301.79281849
20Hedgehog signaling pathway_Homo sapiens_hsa043401.71008539
21Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.66862061
22Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.65939757
23RNA polymerase_Homo sapiens_hsa030201.65863578
24Selenocompound metabolism_Homo sapiens_hsa004501.62463992
25Proteoglycans in cancer_Homo sapiens_hsa052051.57857052
26Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.51359520
27Homologous recombination_Homo sapiens_hsa034401.49121592
28Ether lipid metabolism_Homo sapiens_hsa005651.48420144
29Huntingtons disease_Homo sapiens_hsa050161.47815198
30Proteasome_Homo sapiens_hsa030501.46280631
31Gastric acid secretion_Homo sapiens_hsa049711.40711365
32Ribosome_Homo sapiens_hsa030101.39796871
33PI3K-Akt signaling pathway_Homo sapiens_hsa041511.38290236
34Peroxisome_Homo sapiens_hsa041461.34299282
35GnRH signaling pathway_Homo sapiens_hsa049121.33520134
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.33068956
37Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.31288902
38RNA transport_Homo sapiens_hsa030131.29904064
39Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.29202679
40Hippo signaling pathway_Homo sapiens_hsa043901.29191710
41Lysine degradation_Homo sapiens_hsa003101.27663597
42Adherens junction_Homo sapiens_hsa045201.27449471
43Bile secretion_Homo sapiens_hsa049761.27063565
44Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.26725835
45Nucleotide excision repair_Homo sapiens_hsa034201.25865858
46Wnt signaling pathway_Homo sapiens_hsa043101.23981942
47RNA degradation_Homo sapiens_hsa030181.23494884
48Steroid biosynthesis_Homo sapiens_hsa001001.22794909
49Mismatch repair_Homo sapiens_hsa034301.22636027
50Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.20556525
51Alzheimers disease_Homo sapiens_hsa050101.19942099
52Salivary secretion_Homo sapiens_hsa049701.16000270
53Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.15918937
54Cell cycle_Homo sapiens_hsa041101.15567215
55Pathways in cancer_Homo sapiens_hsa052001.12619096
56Melanogenesis_Homo sapiens_hsa049161.12618174
57Fatty acid elongation_Homo sapiens_hsa000621.12521497
58Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.10249734
59Mineral absorption_Homo sapiens_hsa049781.09722925
60DNA replication_Homo sapiens_hsa030301.09576954
61Chemical carcinogenesis_Homo sapiens_hsa052041.08611186
62TGF-beta signaling pathway_Homo sapiens_hsa043501.06626730
63Bladder cancer_Homo sapiens_hsa052191.06234720
64Vibrio cholerae infection_Homo sapiens_hsa051101.03039463
65Dilated cardiomyopathy_Homo sapiens_hsa054141.02522239
66MicroRNAs in cancer_Homo sapiens_hsa052061.00991838
67Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.00426722
68Linoleic acid metabolism_Homo sapiens_hsa005910.98970400
69Drug metabolism - other enzymes_Homo sapiens_hsa009830.98552441
70Collecting duct acid secretion_Homo sapiens_hsa049660.98131594
71Glioma_Homo sapiens_hsa052140.96756353
72Pyrimidine metabolism_Homo sapiens_hsa002400.95952137
73Leukocyte transendothelial migration_Homo sapiens_hsa046700.95763584
74Primary bile acid biosynthesis_Homo sapiens_hsa001200.95414912
75Long-term depression_Homo sapiens_hsa047300.95353062
76Vitamin B6 metabolism_Homo sapiens_hsa007500.95152454
77Taste transduction_Homo sapiens_hsa047420.95012104
78Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.94581937
79Phototransduction_Homo sapiens_hsa047440.94304351
80One carbon pool by folate_Homo sapiens_hsa006700.94218112
81Maturity onset diabetes of the young_Homo sapiens_hsa049500.93818995
82Tight junction_Homo sapiens_hsa045300.92797660
83Metabolic pathways_Homo sapiens_hsa011000.91776519
84Retinol metabolism_Homo sapiens_hsa008300.89829966
85Protein digestion and absorption_Homo sapiens_hsa049740.89439994
86Synaptic vesicle cycle_Homo sapiens_hsa047210.89161588
87Long-term potentiation_Homo sapiens_hsa047200.88880155
88Thyroid hormone synthesis_Homo sapiens_hsa049180.88375501
89Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.88107769
90Purine metabolism_Homo sapiens_hsa002300.87910047
91Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.87329638
92Circadian entrainment_Homo sapiens_hsa047130.86998443
93Chronic myeloid leukemia_Homo sapiens_hsa052200.86620027
94Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.86166773
95Propanoate metabolism_Homo sapiens_hsa006400.85326930
96Complement and coagulation cascades_Homo sapiens_hsa046100.84838393
97Gap junction_Homo sapiens_hsa045400.84036720
98Spliceosome_Homo sapiens_hsa030400.83506325
99Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.82151770
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.81794729
101Pancreatic secretion_Homo sapiens_hsa049720.81417878
102Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.80801360
103Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.80764535
104Axon guidance_Homo sapiens_hsa043600.79231768
105Platelet activation_Homo sapiens_hsa046110.78717025
106Arginine biosynthesis_Homo sapiens_hsa002200.78426815
107Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.77995001
108Glutathione metabolism_Homo sapiens_hsa004800.76540350
109Pentose and glucuronate interconversions_Homo sapiens_hsa000400.76223010
110Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.75973003
111Notch signaling pathway_Homo sapiens_hsa043300.75332378
112alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.75198552
113Thyroid hormone signaling pathway_Homo sapiens_hsa049190.74189867
114N-Glycan biosynthesis_Homo sapiens_hsa005100.73860540
115Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.73408905
116Melanoma_Homo sapiens_hsa052180.73353186
117Renin-angiotensin system_Homo sapiens_hsa046140.71670684
118GABAergic synapse_Homo sapiens_hsa047270.71625954
119Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71321275
120Arachidonic acid metabolism_Homo sapiens_hsa005900.69186645
121Cholinergic synapse_Homo sapiens_hsa047250.68810475
122Insulin secretion_Homo sapiens_hsa049110.68736187
123Renin secretion_Homo sapiens_hsa049240.68696443
124Prostate cancer_Homo sapiens_hsa052150.67643634
125Estrogen signaling pathway_Homo sapiens_hsa049150.67185864
126Pyruvate metabolism_Homo sapiens_hsa006200.66046708
127Glutamatergic synapse_Homo sapiens_hsa047240.65942715
128Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.65667561
129Phagosome_Homo sapiens_hsa041450.65259353
130Olfactory transduction_Homo sapiens_hsa047400.64917260
131Rheumatoid arthritis_Homo sapiens_hsa053230.64741485
132Steroid hormone biosynthesis_Homo sapiens_hsa001400.64284672
133Oxytocin signaling pathway_Homo sapiens_hsa049210.63641459
134Glycosaminoglycan degradation_Homo sapiens_hsa005310.63162439
135Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63094431
136ABC transporters_Homo sapiens_hsa020100.62976173
137Aldosterone synthesis and secretion_Homo sapiens_hsa049250.61975279
138Dopaminergic synapse_Homo sapiens_hsa047280.61533957
139Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.60952796
140Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.60387457
141Biosynthesis of amino acids_Homo sapiens_hsa012300.60077284
142Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.59534100
143Tryptophan metabolism_Homo sapiens_hsa003800.59065364
144Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.57158232
145AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.56697071
146Cyanoamino acid metabolism_Homo sapiens_hsa004600.56123722
147Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.55910434
148Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.55082761
149Pancreatic cancer_Homo sapiens_hsa052120.55072485
150Rap1 signaling pathway_Homo sapiens_hsa040150.54289212
151Endometrial cancer_Homo sapiens_hsa052130.53916121
152Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.53710086
153Sulfur relay system_Homo sapiens_hsa041220.53575076
154Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.53420794
155Regulation of autophagy_Homo sapiens_hsa041400.52765806
156Regulation of actin cytoskeleton_Homo sapiens_hsa048100.52404060
157Fat digestion and absorption_Homo sapiens_hsa049750.52019910
158Central carbon metabolism in cancer_Homo sapiens_hsa052300.51369458
159Dorso-ventral axis formation_Homo sapiens_hsa043200.51309746
160Sulfur metabolism_Homo sapiens_hsa009200.51051051
161Butanoate metabolism_Homo sapiens_hsa006500.50976054
162Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.50324303
163Non-small cell lung cancer_Homo sapiens_hsa052230.50121362
164Oocyte meiosis_Homo sapiens_hsa041140.49884624
1652-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.49538109
166Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.48819314
167Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.48778126
168Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.48363155
169Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47665837
170p53 signaling pathway_Homo sapiens_hsa041150.47241061
171Protein export_Homo sapiens_hsa030600.46729331
172Renal cell carcinoma_Homo sapiens_hsa052110.45414638
173Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.43975107
174Lysosome_Homo sapiens_hsa041420.42896423
175cGMP-PKG signaling pathway_Homo sapiens_hsa040220.42713365
176Carbon metabolism_Homo sapiens_hsa012000.39979745
177Cardiac muscle contraction_Homo sapiens_hsa042600.39979357
178Tyrosine metabolism_Homo sapiens_hsa003500.39451684
179Glucagon signaling pathway_Homo sapiens_hsa049220.38531652
180Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.36084699
181Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.34954049
182Malaria_Homo sapiens_hsa051440.33686715
183Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.33003241

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