ENAM

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: Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of collagen biosynthetic process (GO:0032967)7.92825126
2positive regulation of collagen metabolic process (GO:0010714)7.55168428
3sperm motility (GO:0030317)7.16885662
4regulation of collagen biosynthetic process (GO:0032965)6.99378755
5acrosome reaction (GO:0007340)6.61868498
6regulation of collagen metabolic process (GO:0010712)6.09761685
7establishment of protein localization to Golgi (GO:0072600)6.00170472
8protein targeting to Golgi (GO:0000042)5.94332751
9endodermal cell differentiation (GO:0035987)5.93736602
10positive regulation of biomineral tissue development (GO:0070169)5.85742217
11bone trabecula formation (GO:0060346)5.60948991
12fusion of sperm to egg plasma membrane (GO:0007342)5.58898401
13positive regulation of multicellular organismal metabolic process (GO:0044253)5.58043319
14protein polyglutamylation (GO:0018095)5.47913493
15retrograde transport, vesicle recycling within Golgi (GO:0000301)5.39818794
16response to pheromone (GO:0019236)5.38195532
17extracellular matrix disassembly (GO:0022617)5.34753920
18regulation of biomineral tissue development (GO:0070167)5.26596765
19cell-substrate junction assembly (GO:0007044)5.18762286
20multicellular organism reproduction (GO:0032504)5.04850164
21cellular ketone body metabolic process (GO:0046950)4.98943918
22protein localization to Golgi apparatus (GO:0034067)4.76236424
23regulation of multicellular organismal metabolic process (GO:0044246)4.65362598
24chondrocyte differentiation (GO:0002062)4.55145926
25ketone body metabolic process (GO:1902224)4.46545346
26plasma membrane fusion (GO:0045026)4.34286249
27spermatid development (GO:0007286)4.32606960
28epithelial to mesenchymal transition (GO:0001837)4.32429409
29C4-dicarboxylate transport (GO:0015740)4.32339706
30calcium ion-dependent exocytosis (GO:0017156)4.19357303
31indolalkylamine catabolic process (GO:0046218)4.18703281
32tryptophan catabolic process (GO:0006569)4.18703281
33indole-containing compound catabolic process (GO:0042436)4.18703281
34epithelial cilium movement (GO:0003351)4.16114208
35regulation of female gonad development (GO:2000194)4.15867445
36axoneme assembly (GO:0035082)4.15296066
37seminiferous tubule development (GO:0072520)4.07336177
38regulation of cilium movement (GO:0003352)4.02221710
39reproduction (GO:0000003)4.00828336
40ovulation cycle (GO:0042698)3.99010492
41phosphatidylethanolamine biosynthetic process (GO:0006646)3.95645267
42single strand break repair (GO:0000012)3.92782133
43sperm-egg recognition (GO:0035036)3.92153661
44rRNA methylation (GO:0031167)3.90444769
45growth hormone receptor signaling pathway (GO:0060396)3.86028578
46centriole replication (GO:0007099)3.83730703
47organic cation transport (GO:0015695)3.82519257
48positive regulation of hair cycle (GO:0042635)3.82489795
49positive regulation of hair follicle development (GO:0051798)3.82489795
50sperm capacitation (GO:0048240)3.81312396
51spermatogenesis (GO:0007283)3.79322151
52male gamete generation (GO:0048232)3.78509784
53piRNA metabolic process (GO:0034587)3.70671469
54microtubule depolymerization (GO:0007019)3.68665619
55phosphatidylethanolamine metabolic process (GO:0046337)3.66674156
56single fertilization (GO:0007338)3.65534515
57short-term memory (GO:0007614)3.64325698
58water-soluble vitamin biosynthetic process (GO:0042364)3.62381544
59collagen catabolic process (GO:0030574)3.58924639
60tryptophan metabolic process (GO:0006568)3.57877142
61microtubule polymerization or depolymerization (GO:0031109)3.57150889
62lateral sprouting from an epithelium (GO:0060601)3.56418230
63somatic stem cell division (GO:0048103)3.53844772
64gamete generation (GO:0007276)3.50581299
65cilium or flagellum-dependent cell motility (GO:0001539)3.49516246
66collagen metabolic process (GO:0032963)3.46392997
67lateral ventricle development (GO:0021670)3.45867450
68cellular response to growth hormone stimulus (GO:0071378)3.42747661
69regulation of meiosis I (GO:0060631)3.38437730
70axonemal dynein complex assembly (GO:0070286)3.38140252
71regulation of centriole replication (GO:0046599)3.34023173
72cilium movement (GO:0003341)3.33448431
73regulation of hair follicle development (GO:0051797)3.32680304
74regulation of hexokinase activity (GO:1903299)3.30163324
75regulation of glucokinase activity (GO:0033131)3.30163324
76cell-cell recognition (GO:0009988)3.28536789
77rRNA modification (GO:0000154)3.28429799
78multicellular organismal catabolic process (GO:0044243)3.28148148
79indolalkylamine metabolic process (GO:0006586)3.26388478
80multicellular organismal macromolecule metabolic process (GO:0044259)3.24124509
81epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.20223628
82intra-Golgi vesicle-mediated transport (GO:0006891)3.20069128
83fertilization (GO:0009566)3.18867092
84centriole assembly (GO:0098534)3.18254375
85positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.05693334
86nerve growth factor signaling pathway (GO:0038180)3.04858174
87multicellular organismal metabolic process (GO:0044236)3.03771341
88regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.03254856
89alanine transport (GO:0032328)3.02768205
90negative regulation of protein localization to plasma membrane (GO:1903077)3.02101989
91positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.02092224
92replacement ossification (GO:0036075)3.01622409
93endochondral ossification (GO:0001958)3.01622409
94sodium ion export (GO:0071436)3.00658899
95regulation of organ morphogenesis (GO:2000027)3.00283858
96inositol phosphate-mediated signaling (GO:0048016)3.00136974
97tooth mineralization (GO:0034505)26.5159030
98respiratory chain complex IV assembly (GO:0008535)2.99027516
99cranial suture morphogenesis (GO:0060363)2.96817371
100RNA destabilization (GO:0050779)2.96723718
101osteoblast differentiation (GO:0001649)2.95652690
102motile cilium assembly (GO:0044458)2.95121067
103positive regulation of meiosis (GO:0045836)2.94529128
104photoreceptor cell maintenance (GO:0045494)2.93453168
105behavioral response to nicotine (GO:0035095)2.91483791
106DNA methylation involved in gamete generation (GO:0043046)2.89541168
107outer ear morphogenesis (GO:0042473)2.87914310
108cytochrome complex assembly (GO:0017004)2.87669073
109aromatic amino acid family catabolic process (GO:0009074)2.86163055
110negative regulation of cytosolic calcium ion concentration (GO:0051481)2.84732479
111detection of light stimulus involved in visual perception (GO:0050908)2.81977126
112detection of light stimulus involved in sensory perception (GO:0050962)2.81977126
113microtubule severing (GO:0051013)2.81495884
114amine catabolic process (GO:0009310)2.80842658
115cellular biogenic amine catabolic process (GO:0042402)2.80842658
116spinal cord motor neuron differentiation (GO:0021522)2.80184669
117mesenchymal-epithelial cell signaling (GO:0060638)2.77868429
118reflex (GO:0060004)2.77489671
119response to vitamin D (GO:0033280)2.76344801
120positive regulation of meiotic cell cycle (GO:0051446)2.74251860
121negative regulation of smooth muscle cell differentiation (GO:0051151)2.74213653
122positive regulation of Rab GTPase activity (GO:0032851)2.73797134
123regulation of Rab GTPase activity (GO:0032313)2.73797134
124multicellular organismal reproductive process (GO:0048609)2.72506089
125negative regulation of Notch signaling pathway (GO:0045746)2.72209232
126response to parathyroid hormone (GO:0071107)2.72061644
127craniofacial suture morphogenesis (GO:0097094)2.71880688
128establishment of tissue polarity (GO:0007164)2.71825533
129establishment of planar polarity (GO:0001736)2.71825533
130* organ morphogenesis (GO:0009887)2.70449118
131synapsis (GO:0007129)2.69295485
132cilium organization (GO:0044782)2.69218656
133lung-associated mesenchyme development (GO:0060484)2.67850636
134kynurenine metabolic process (GO:0070189)2.67366114
135regulation of type B pancreatic cell apoptotic process (GO:2000674)2.66537797
136male meiosis I (GO:0007141)2.65979971
137positive regulation of guanylate cyclase activity (GO:0031284)2.65209168
138primary amino compound metabolic process (GO:1901160)2.64970570
139branching involved in salivary gland morphogenesis (GO:0060445)2.63174639
140chondrocyte development (GO:0002063)2.62787374
141regulation of microtubule-based movement (GO:0060632)2.62772621
142indole-containing compound metabolic process (GO:0042430)2.62644556
143skeletal muscle fiber development (GO:0048741)2.62453395
144cellular potassium ion homeostasis (GO:0030007)2.62078308
145inositol phosphate catabolic process (GO:0071545)2.61956668
146cilium assembly (GO:0042384)2.61381046
147DNA packaging (GO:0006323)2.61198652
148protein localization to endosome (GO:0036010)2.59908788
149Golgi to endosome transport (GO:0006895)2.59582898
150germ cell development (GO:0007281)2.59564828
151multicellular organismal movement (GO:0050879)2.59468484
152musculoskeletal movement (GO:0050881)2.59468484
153endocrine pancreas development (GO:0031018)2.58220345
154chromosome condensation (GO:0030261)2.57223456
155phosphorylated carbohydrate dephosphorylation (GO:0046838)2.56144292
156inositol phosphate dephosphorylation (GO:0046855)2.56144292
157regulation of neuron migration (GO:2001222)2.55606455
158macroautophagy (GO:0016236)2.55475888
159iron ion import (GO:0097286)2.47689326
160cell adhesion mediated by integrin (GO:0033627)2.46820334
161midgut development (GO:0007494)2.44571695
162regulation of mesenchymal cell apoptotic process (GO:2001053)2.42252246
163positive regulation of Rho protein signal transduction (GO:0035025)2.36173564
164extracellular matrix organization (GO:0030198)2.33999701
165lens fiber cell differentiation (GO:0070306)2.33496423
166hematopoietic stem cell proliferation (GO:0071425)2.33227568
167extracellular structure organization (GO:0043062)2.33033783
168osteoblast development (GO:0002076)2.33006100
169mesenchymal cell proliferation (GO:0010463)2.32038916
170regulation of synapse structural plasticity (GO:0051823)2.30184959
171myotube cell development (GO:0014904)2.24670836
172cell junction organization (GO:0034330)2.22448008
173bundle of His cell to Purkinje myocyte communication (GO:0086069)2.19858178
174embryonic hindlimb morphogenesis (GO:0035116)2.19318222
175planar cell polarity pathway involved in neural tube closure (GO:0090179)2.18949446
176stem cell division (GO:0017145)2.18117006
177leukocyte aggregation (GO:0070486)2.16372988
178negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.14462986
179cell proliferation involved in metanephros development (GO:0072203)2.12892237
180positive regulation of catenin import into nucleus (GO:0035413)2.12813549
181regulation of hair cycle (GO:0042634)2.12003846
182renal system development (GO:0072001)2.11124604
183positive regulation of bone remodeling (GO:0046852)2.09813843
184positive regulation of bone resorption (GO:0045780)2.09813843
185epidermis development (GO:0008544)2.08309606
186cell surface receptor signaling pathway involved in heart development (GO:0061311)2.07733005
187positive regulation of osteoblast differentiation (GO:0045669)2.04814075
188regulation of superoxide metabolic process (GO:0090322)2.04161701
189regulation of superoxide anion generation (GO:0032928)2.03734983
190adhesion of symbiont to host cell (GO:0044650)2.03143140
191virion attachment to host cell (GO:0019062)2.03143140
192regulation of transforming growth factor beta2 production (GO:0032909)2.02883968
193dendrite morphogenesis (GO:0048813)2.02666220
194hemidesmosome assembly (GO:0031581)16.3579997
195* odontogenesis of dentin-containing tooth (GO:0042475)14.8543216
196positive regulation of odontogenesis (GO:0042482)14.7394201
197regulation of odontogenesis of dentin-containing tooth (GO:0042487)12.5796151
198regulation of odontogenesis (GO:0042481)12.4760082
199* odontogenesis (GO:0042476)11.0519334
200* biomineral tissue development (GO:0031214)10.5052637

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human9.12951104
2TRIM28_21343339_ChIP-Seq_HEK293_Human5.18467771
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.77484683
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.20145868
5RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.81258123
6ZNF274_21170338_ChIP-Seq_K562_Hela2.75773455
7SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.60584859
8GBX2_23144817_ChIP-Seq_PC3_Human2.48549448
9VDR_22108803_ChIP-Seq_LS180_Human2.37804055
10FUS_26573619_Chip-Seq_HEK293_Human2.33072520
11* HTT_18923047_ChIP-ChIP_STHdh_Human2.30633720
12ER_23166858_ChIP-Seq_MCF-7_Human2.21592062
13CTBP2_25329375_ChIP-Seq_LNCAP_Human2.16629135
14POU3F2_20337985_ChIP-ChIP_501MEL_Human2.15457748
15BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.09888586
16CBP_20019798_ChIP-Seq_JUKART_Human2.09749514
17IRF4_20064451_ChIP-Seq_CD4+T_Mouse2.09749514
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.08015941
19ESR1_21235772_ChIP-Seq_MCF-7_Human2.05037003
20ZFP57_27257070_Chip-Seq_ESCs_Mouse2.00469551
21IRF8_22096565_ChIP-ChIP_GC-B_Human1.96497838
22CTBP1_25329375_ChIP-Seq_LNCAP_Human1.94718305
23ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.91566006
24FLI1_27457419_Chip-Seq_LIVER_Mouse1.90899904
25EZH2_22144423_ChIP-Seq_EOC_Human1.88125756
26CLOCK_20551151_ChIP-Seq_293T_Human1.86225224
27P300_19829295_ChIP-Seq_ESCs_Human1.85843653
28RNF2_18974828_ChIP-Seq_MESCs_Mouse1.84178754
29EZH2_18974828_ChIP-Seq_MESCs_Mouse1.84178754
30SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.76730298
31AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.75126109
32* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.74972853
33POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.71549688
34TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.71549688
35SOX9_24532713_ChIP-Seq_HFSC_Mouse1.68919732
36NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.68440529
37UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.68390132
38IGF1R_20145208_ChIP-Seq_DFB_Human1.68183018
39PCGF2_27294783_Chip-Seq_ESCs_Mouse1.67413812
40STAT3_23295773_ChIP-Seq_U87_Human1.66037582
41SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.65260780
42RARG_19884340_ChIP-ChIP_MEFs_Mouse1.64150283
43AR_25329375_ChIP-Seq_VCAP_Human1.63039662
44TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.62640092
45SMAD3_21741376_ChIP-Seq_HESCs_Human1.61773707
46EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.61541280
47JARID2_20075857_ChIP-Seq_MESCs_Mouse1.61503936
48ZNF263_19887448_ChIP-Seq_K562_Human1.60340109
49ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.57691320
50SMAD4_21799915_ChIP-Seq_A2780_Human1.57639498
51CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.56604203
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.56006315
53SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.53987153
54FOXA1_25329375_ChIP-Seq_VCAP_Human1.53622292
55FOXA1_27270436_Chip-Seq_PROSTATE_Human1.53622292
56JARID2_20064375_ChIP-Seq_MESCs_Mouse1.53608575
57SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.53116983
58ETV2_25802403_ChIP-Seq_MESCs_Mouse1.52937110
59TAF15_26573619_Chip-Seq_HEK293_Human1.52762961
60WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.51070994
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.51046577
62SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.49861359
63TP53_20018659_ChIP-ChIP_R1E_Mouse1.46976742
64TCF4_23295773_ChIP-Seq_U87_Human1.45954329
65SMAD4_21741376_ChIP-Seq_HESCs_Human1.45512356
66CJUN_26792858_Chip-Seq_BT549_Human1.45191383
67PIAS1_25552417_ChIP-Seq_VCAP_Human1.44720895
68AR_21572438_ChIP-Seq_LNCaP_Human1.44627756
69PCGF2_27294783_Chip-Seq_NPCs_Mouse1.42910597
70MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.42906741
71ESR2_21235772_ChIP-Seq_MCF-7_Human1.42779109
72SOX2_19829295_ChIP-Seq_ESCs_Human1.41088943
73NANOG_19829295_ChIP-Seq_ESCs_Human1.41088943
74MTF2_20144788_ChIP-Seq_MESCs_Mouse1.40858389
75BCAT_22108803_ChIP-Seq_LS180_Human1.40573194
76PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.38815549
77SUZ12_27294783_Chip-Seq_NPCs_Mouse1.38458151
78NR3C1_21868756_ChIP-Seq_MCF10A_Human1.38368410
79ZNF217_24962896_ChIP-Seq_MCF-7_Human1.38209150
80GATA3_21878914_ChIP-Seq_MCF-7_Human1.37519954
81GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.37215681
82FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.37116140
83SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.35824161
84TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.35709532
85TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35158405
86TP53_22573176_ChIP-Seq_HFKS_Human1.34948848
87SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.34845931
88SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.34845931
89SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.33870665
90NFE2_27457419_Chip-Seq_LIVER_Mouse1.33386342
91* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.32090603
92ZFP281_18757296_ChIP-ChIP_E14_Mouse1.31757721
93SUZ12_27294783_Chip-Seq_ESCs_Mouse1.31531872
94SALL1_21062744_ChIP-ChIP_HESCs_Human1.31357619
95EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.30347478
96ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.29902114
97SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.28674655
98ARNT_22903824_ChIP-Seq_MCF-7_Human1.28140525
99TCF4_22108803_ChIP-Seq_LS180_Human1.27822775
100WT1_19549856_ChIP-ChIP_CCG9911_Human1.27127849
101EZH2_27294783_Chip-Seq_NPCs_Mouse1.25832974
102EZH2_27304074_Chip-Seq_ESCs_Mouse1.25309678
103NCOR_22424771_ChIP-Seq_293T_Human1.24505124
104KLF5_20875108_ChIP-Seq_MESCs_Mouse1.24143548
105RUNX2_22187159_ChIP-Seq_PCA_Human1.23803556
106AUTS2_25519132_ChIP-Seq_293T-REX_Human1.23260476
107PRDM14_20953172_ChIP-Seq_ESCs_Human1.23143946
108* EWS_26573619_Chip-Seq_HEK293_Human1.20385059
109TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.19870243
110VDR_24787735_ChIP-Seq_THP-1_Human1.19335135
111NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.19316828
112LXR_22158963_ChIP-Seq_LIVER_Mouse1.18845503
113TP53_18474530_ChIP-ChIP_U2OS_Human1.18800058
114MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.18154206
115EGR1_23403033_ChIP-Seq_LIVER_Mouse1.17478626
116VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.16561615
117NANOG_18555785_Chip-Seq_ESCs_Mouse1.16106466
118THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.15693126
119PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.14899003
120* MYC_19829295_ChIP-Seq_ESCs_Human1.14807910
121RXR_22108803_ChIP-Seq_LS180_Human1.14423679
122* CDX2_22108803_ChIP-Seq_LS180_Human1.14104509
123CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.13896969
124TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.13189613
125ETV1_20927104_ChIP-Seq_GIST48_Human1.12404791
126RXR_22158963_ChIP-Seq_LIVER_Mouse1.12096483
127FLI1_21867929_ChIP-Seq_TH2_Mouse1.11811009
128RBPJ_21746931_ChIP-Seq_IB4_Human1.11662216
129TAF2_19829295_ChIP-Seq_ESCs_Human1.11096500
130AR_20517297_ChIP-Seq_VCAP_Human1.10788299
131OCT4_20526341_ChIP-Seq_ESCs_Human1.10233534
132CBX2_22325352_ChIP-Seq_293T-Rex_Human1.09939258
133HOXB7_26014856_ChIP-Seq_BT474_Human1.09298698
134BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08980741
135REST_21632747_ChIP-Seq_MESCs_Mouse1.08003085
136AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.07863221
137CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07825060
138CTNNB1_20460455_ChIP-Seq_HCT116_Human1.07468511
139EZH2_27294783_Chip-Seq_ESCs_Mouse1.07401059
140PHF8_20622853_ChIP-Seq_HELA_Human1.07373258
141CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.06651125
142MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.06270095
143NFYB_21822215_ChIP-Seq_K562_Human1.06036142
144TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.05733776
145ERA_21632823_ChIP-Seq_H3396_Human1.05500004
146HNFA_21074721_ChIP-Seq_CACO-2_Human1.05382732
147TBL1_22424771_ChIP-Seq_293T_Human1.05237319
148TP63_23658742_ChIP-Seq_EP156T_Human1.04720049
149ERG_20517297_ChIP-Seq_VCAP_Human1.04658432
150HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.04604589
151TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human1.04406928
152* FOXH1_21741376_ChIP-Seq_EPCs_Human1.04192438
153EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.04180107
154RNF2_27304074_Chip-Seq_ESCs_Mouse1.02903287
155E2F1_18555785_Chip-Seq_ESCs_Mouse1.02784188
156RAC3_21632823_ChIP-Seq_H3396_Human1.02729946
157TCF3_18692474_ChIP-Seq_MEFs_Mouse1.02563212
158EED_16625203_ChIP-ChIP_MESCs_Mouse1.01578272
159TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00660871
160* CEBPB_22108803_ChIP-Seq_LS180_Human1.00565378
161RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.00346353
162NANOG_20526341_ChIP-Seq_ESCs_Human1.00224874
163ERG_21242973_ChIP-ChIP_JURKAT_Human0.99916596
164GATA2_21666600_ChIP-Seq_HMVEC_Human0.99809767
165KDM2B_26808549_Chip-Seq_K562_Human0.98875630
166ZFP281_27345836_Chip-Seq_ESCs_Mouse0.98632879
167RING1B_27294783_Chip-Seq_ESCs_Mouse0.96683762
168NRF2_20460467_ChIP-Seq_MEFs_Mouse0.95448744
169NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.95448744
170KDM2B_26808549_Chip-Seq_DND41_Human0.93990728
171TCF4_18268006_ChIP-ChIP_LS174T_Human0.93262178
172CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.92969952
173KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92836785
174RING1B_27294783_Chip-Seq_NPCs_Mouse0.92675020
175SOX2_20726797_ChIP-Seq_SW620_Human0.91966483
176HIF1A_21447827_ChIP-Seq_MCF-7_Human0.91878895
177P300_27058665_Chip-Seq_ZR-75-30cells_Human0.91781878
178FOXA1_25552417_ChIP-Seq_VCAP_Human0.91649239
179TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.91615632
180WT1_25993318_ChIP-Seq_PODOCYTE_Human0.91125846
181* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.90322358
182DNAJC2_21179169_ChIP-ChIP_NT2_Human0.89627230
183EP300_21415370_ChIP-Seq_HL-1_Mouse0.88519823
184ISL1_27105846_Chip-Seq_CPCs_Mouse0.88509541
185AR_21909140_ChIP-Seq_LNCAP_Human0.86836994
186EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.85770153
187TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.85473767
188NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.85057475
189UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.84430543
190AHR_22903824_ChIP-Seq_MCF-7_Human0.83090993
191SOX2_21211035_ChIP-Seq_LN229_Gbm0.81495584
192KDM2B_26808549_Chip-Seq_JURKAT_Human0.81191808
193PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.79639341
194SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.79627183
195KLF5_25053715_ChIP-Seq_YYC3_Human0.79018625
196SMAD4_21741376_ChIP-Seq_EPCs_Human0.78350066
197P53_22127205_ChIP-Seq_FIBROBLAST_Human0.78070851

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002234_abnormal_pharynx_morphology5.49107829
2MP0005410_abnormal_fertilization5.09810878
3MP0005275_abnormal_skin_tensile4.93469908
4MP0001849_ear_inflammation4.78884855
5MP0002138_abnormal_hepatobiliary_system4.57974148
6MP0002653_abnormal_ependyma_morphology4.34553674
7* MP0000432_abnormal_head_morphology4.19685773
8* MP0003935_abnormal_craniofacial_develop4.13120057
9MP0004272_abnormal_basement_membrane3.58271622
10MP0005377_hearing/vestibular/ear_phenot3.19199153
11MP0003878_abnormal_ear_physiology3.19199153
12MP0002837_dystrophic_cardiac_calcinosis3.14813640
13MP0005187_abnormal_penis_morphology3.12786617
14MP0003315_abnormal_perineum_morphology3.05632082
15MP0008438_abnormal_cutaneous_collagen3.04330581
16MP0003646_muscle_fatigue2.89343585
17MP0008877_abnormal_DNA_methylation2.73780014
18MP0002060_abnormal_skin_morphology2.73451379
19MP0000762_abnormal_tongue_morphology2.72183968
20MP0000613_abnormal_salivary_gland2.71786729
21MP0005379_endocrine/exocrine_gland_phen2.69461806
22MP0001542_abnormal_bone_strength2.68298377
23MP0000462_abnormal_digestive_system2.65219423
24MP0002877_abnormal_melanocyte_morpholog2.62812542
25MP0003195_calcinosis2.37829288
26MP0002254_reproductive_system_inflammat2.19076398
27MP0001968_abnormal_touch/_nociception2.13506919
28MP0003698_abnormal_male_reproductive2.05559773
29MP0003300_gastrointestinal_ulcer2.04003315
30MP0006072_abnormal_retinal_apoptosis2.01766966
31MP0000538_abnormal_urinary_bladder2.01466598
32MP0003941_abnormal_skin_development1.98081640
33MP0002896_abnormal_bone_mineralization1.96480958
34MP0005645_abnormal_hypothalamus_physiol1.94259704
35MP0001929_abnormal_gametogenesis1.91906943
36MP0001485_abnormal_pinna_reflex1.91340693
37MP0005670_abnormal_white_adipose1.90971733
38MP0004145_abnormal_muscle_electrophysio1.90832718
39MP0005551_abnormal_eye_electrophysiolog1.88220780
40MP0009250_abnormal_appendicular_skeleto1.86688445
41MP0002116_abnormal_craniofacial_bone1.83393408
42MP0001299_abnormal_eye_distance/1.83068274
43MP0010030_abnormal_orbit_morphology1.72775406
44MP0005253_abnormal_eye_physiology1.72370893
45MP0008872_abnormal_physiological_respon1.69607616
46MP0000372_irregular_coat_pigmentation1.69284321
47MP0005646_abnormal_pituitary_gland1.63889586
48MP0010386_abnormal_urinary_bladder1.63522348
49MP0005220_abnormal_exocrine_pancreas1.62663900
50MP0000013_abnormal_adipose_tissue1.61101006
51MP0002693_abnormal_pancreas_physiology1.59650732
52MP0003705_abnormal_hypodermis_morpholog1.59437839
53MP0002909_abnormal_adrenal_gland1.55354136
54MP0001944_abnormal_pancreas_morphology1.54005994
55MP0002098_abnormal_vibrissa_morphology1.48603612
56MP0003566_abnormal_cell_adhesion1.46959235
57MP0000569_abnormal_digit_pigmentation1.46305885
58MP0009046_muscle_twitch1.46215212
59MP0002876_abnormal_thyroid_physiology1.42792791
60MP0000163_abnormal_cartilage_morphology1.42170925
61MP0001984_abnormal_olfaction1.41012353
62MP0000733_abnormal_muscle_development1.40780702
63MP0005332_abnormal_amino_acid1.40404394
64MP0000383_abnormal_hair_follicle1.37615706
65MP0000467_abnormal_esophagus_morphology1.37404339
66MP0003172_abnormal_lysosome_physiology1.37000169
67MP0010329_abnormal_lipoprotein_level1.33293254
68MP0002163_abnormal_gland_morphology1.33161096
69MP0001216_abnormal_epidermal_layer1.32201512
70MP0001486_abnormal_startle_reflex1.31927658
71MP0008875_abnormal_xenobiotic_pharmacok1.31609683
72MP0010234_abnormal_vibrissa_follicle1.30073347
73MP0000604_amyloidosis1.28959679
74MP0006054_spinal_hemorrhage1.28924234
75MP0010771_integument_phenotype1.28063601
76MP0010678_abnormal_skin_adnexa1.27980512
77MP0002009_preneoplasia1.27566660
78MP0003385_abnormal_body_wall1.26088028
79MP0005023_abnormal_wound_healing1.25983255
80MP0000049_abnormal_middle_ear1.21465184
81MP0009745_abnormal_behavioral_response1.17380372
82MP0009931_abnormal_skin_appearance1.16848142
83MP0003718_maternal_effect1.14559927
84MP0001765_abnormal_ion_homeostasis1.14327670
85MP0000647_abnormal_sebaceous_gland1.12890978
86MP0002796_impaired_skin_barrier1.12825281
87MP0005365_abnormal_bile_salt1.12756156
88MP0002998_abnormal_bone_remodeling1.11649389
89MP0001501_abnormal_sleep_pattern1.10913092
90MP0003137_abnormal_impulse_conducting1.09942009
91MP0004885_abnormal_endolymph1.09742420
92MP0004215_abnormal_myocardial_fiber1.09454243
93MP0004085_abnormal_heartbeat1.08789073
94MP0002210_abnormal_sex_determination1.08678682
95MP0003329_amyloid_beta_deposits1.08469196
96MP0005084_abnormal_gallbladder_morpholo1.07867123
97MP0002733_abnormal_thermal_nociception1.07772137
98MP0002272_abnormal_nervous_system1.07448378
99MP0003755_abnormal_palate_morphology1.06992208
100MP0000428_abnormal_craniofacial_morphol1.06856811
101MP0002295_abnormal_pulmonary_circulatio1.05626119
102MP0002249_abnormal_larynx_morphology1.05194427
103MP0009384_cardiac_valve_regurgitation1.05025403
104MP0005623_abnormal_meninges_morphology1.04662585
105MP0001270_distended_abdomen1.04225222
106MP0005310_abnormal_salivary_gland1.03739619
107MP0000230_abnormal_systemic_arterial1.03711422
108MP0002067_abnormal_sensory_capabilities1.03541414
109MP0001529_abnormal_vocalization1.03323724
110MP0004142_abnormal_muscle_tone1.01869701
111MP0001905_abnormal_dopamine_level1.01806998
112MP0003011_delayed_dark_adaptation1.01517643
113MP0002078_abnormal_glucose_homeostasis1.01446628
114MP0004043_abnormal_pH_regulation1.01311037
115MP0004859_abnormal_synaptic_plasticity0.98670185
116MP0002161_abnormal_fertility/fecundity0.97034522
117MP0002115_abnormal_skeleton_extremities0.96397933
118MP0005503_abnormal_tendon_morphology0.96208902
119MP0002557_abnormal_social/conspecific_i0.96164740
120MP0004185_abnormal_adipocyte_glucose0.95943100
121MP0009053_abnormal_anal_canal0.95206202
122MP0005367_renal/urinary_system_phenotyp0.94525471
123MP0000516_abnormal_urinary_system0.94525471
124MP0004036_abnormal_muscle_relaxation0.94444182
125MP0001970_abnormal_pain_threshold0.94051248
126MP0005508_abnormal_skeleton_morphology0.93924969
127MP0006276_abnormal_autonomic_nervous0.93638847
128MP0008775_abnormal_heart_ventricle0.93135006
129MP0000579_abnormal_nail_morphology0.92691686
130MP0001915_intracranial_hemorrhage0.92575834
131MP0000653_abnormal_sex_gland0.91535129
132MP0005075_abnormal_melanosome_morpholog0.91370370
133MP0001145_abnormal_male_reproductive0.91247306
134MP0003279_aneurysm0.90526566
135MP0003045_fibrosis0.90306152
136MP0002229_neurodegeneration0.89350080
137MP0002572_abnormal_emotion/affect_behav0.88445890
138MP0009643_abnormal_urine_homeostasis0.86654591
139MP0001756_abnormal_urination0.86138717
140MP0005085_abnormal_gallbladder_physiolo0.86011306
141MP0005167_abnormal_blood-brain_barrier0.84391241
142MP0002109_abnormal_limb_morphology0.83912505
143MP0005636_abnormal_mineral_homeostasis0.83739599
144MP0002177_abnormal_outer_ear0.83123527
145MP0002938_white_spotting0.82254415
146MP0008995_early_reproductive_senescence0.82073648
147MP0002233_abnormal_nose_morphology0.82056206
148MP0004742_abnormal_vestibular_system0.81976514
149MP0002928_abnormal_bile_duct0.81727333
150MP0003879_abnormal_hair_cell0.81410622
151MP0005248_abnormal_Harderian_gland0.80829149
152MP0003950_abnormal_plasma_membrane0.80778139
153MP0002282_abnormal_trachea_morphology0.80563942
154MP0003795_abnormal_bone_structure0.80240203
155MP0003787_abnormal_imprinting0.80173474
156MP0005448_abnormal_energy_balance0.80120452
157MP0001963_abnormal_hearing_physiology0.79035729
158MP0000427_abnormal_hair_cycle0.78294425
159MP0003252_abnormal_bile_duct0.77949042
160MP0000631_abnormal_neuroendocrine_gland0.76596010
161MP0000015_abnormal_ear_pigmentation0.76565363
162MP0009780_abnormal_chondrocyte_physiolo0.74292403
163MP0005266_abnormal_metabolism0.74106840
164MP0002734_abnormal_mechanical_nocicepti0.74063811
165MP0003953_abnormal_hormone_level0.73764062
166MP0002113_abnormal_skeleton_development0.72857882
167MP0002108_abnormal_muscle_morphology0.71338325
168MP0005381_digestive/alimentary_phenotyp0.70622827
169MP0004858_abnormal_nervous_system0.70409763
170MP0000377_abnormal_hair_follicle0.69468856
171MP0005166_decreased_susceptibility_to0.65631763
172MP0003937_abnormal_limbs/digits/tail_de0.63878806
173MP0002638_abnormal_pupillary_reflex0.63392147
174MP0003448_altered_tumor_morphology0.62739238
175MP0000470_abnormal_stomach_morphology0.62539822
176MP0001346_abnormal_lacrimal_gland0.62056276
177MP0003942_abnormal_urinary_system0.61494868
178MP0001340_abnormal_eyelid_morphology0.59913370
179MP0004270_analgesia0.58775746
180MP0003453_abnormal_keratinocyte_physiol0.57229638
181MP0001243_abnormal_dermal_layer0.56979673
182MP0005360_urolithiasis0.50373045
183MP0004084_abnormal_cardiac_muscle0.46861488
184MP0000343_altered_response_to0.46614702
185MP0001664_abnormal_digestion0.46564145
186MP0005390_skeleton_phenotype0.45521112
187MP0002932_abnormal_joint_morphology0.44359050
188MP0004484_altered_response_of0.44332099
189MP0001533_abnormal_skeleton_physiology0.44052450
190MP0002697_abnormal_eye_size0.43589393
191MP0003938_abnormal_ear_development0.42517778

Predicted human phenotypes

RankGene SetZ-score
1Atrophic scars (HP:0001075)9.33802547
2Milia (HP:0001056)8.53218988
3Fragile nails (HP:0001808)8.44778357
4Chronic hepatic failure (HP:0100626)4.46240734
5Plantar hyperkeratosis (HP:0007556)4.30669547
6Tubulointerstitial nephritis (HP:0001970)4.10841838
7Hypoplasia of dental enamel (HP:0006297)3.95734569
8Dynein arm defect of respiratory motile cilia (HP:0012255)3.82076066
9Absent/shortened dynein arms (HP:0200106)3.82076066
10Attenuation of retinal blood vessels (HP:0007843)3.57206307
11Pancreatic cysts (HP:0001737)3.50515278
12Nephronophthisis (HP:0000090)3.43268849
13Severe visual impairment (HP:0001141)3.39649728
14Metaphyseal cupping (HP:0003021)3.34355750
15Abnormal drinking behavior (HP:0030082)3.29235103
16Polydipsia (HP:0001959)3.29235103
17Abnormality of the renal cortex (HP:0011035)3.21770301
18Pancreatic fibrosis (HP:0100732)3.21433951
19Abnormality of macular pigmentation (HP:0008002)3.20924098
20Abnormality of the renal medulla (HP:0100957)3.18292899
21Bony spicule pigmentary retinopathy (HP:0007737)3.04246233
22* Amelogenesis imperfecta (HP:0000705)28.2367730
23Tubular atrophy (HP:0000092)2.99742517
24Nail dystrophy (HP:0008404)2.96992279
25Molar tooth sign on MRI (HP:0002419)2.91156795
26Abnormality of midbrain morphology (HP:0002418)2.91156795
27Fair hair (HP:0002286)2.88096417
28Congenital stationary night blindness (HP:0007642)2.87624803
29Abnormal rod and cone electroretinograms (HP:0008323)2.84023966
30Cone-rod dystrophy (HP:0000548)2.81937817
31Type II lissencephaly (HP:0007260)2.78910601
32Medial flaring of the eyebrow (HP:0010747)2.77906031
33Congenital sensorineural hearing impairment (HP:0008527)2.76975063
34Tubulointerstitial abnormality (HP:0001969)2.76237597
35Widely patent fontanelles and sutures (HP:0004492)2.72727253
36Insulin-resistant diabetes mellitus (HP:0000831)2.65599769
37Large for gestational age (HP:0001520)2.65388259
38Progressive cerebellar ataxia (HP:0002073)2.59250373
39Abnormal respiratory epithelium morphology (HP:0012253)2.58537966
40Abnormal respiratory motile cilium morphology (HP:0005938)2.58537966
41Thyroiditis (HP:0100646)2.58506531
42Asymmetric septal hypertrophy (HP:0001670)2.57917045
43Polyuria (HP:0000103)2.55721266
44Abolished electroretinogram (ERG) (HP:0000550)2.53947885
45Abnormal ciliary motility (HP:0012262)2.53098783
46True hermaphroditism (HP:0010459)2.50546606
47Ketoacidosis (HP:0001993)2.48695663
48Ulnar claw (HP:0001178)2.48266686
49Hyperkalemia (HP:0002153)2.48262578
50Gaze-evoked nystagmus (HP:0000640)2.42478428
51Hypodontia (HP:0000668)2.41042967
52Broad metatarsal (HP:0001783)2.39939842
53Death in infancy (HP:0001522)2.37646280
54Hyperventilation (HP:0002883)2.36819080
55Abnormal urine output (HP:0012590)2.36367486
56Generalized hypopigmentation of hair (HP:0011358)2.34124026
57Hypoalbuminemia (HP:0003073)2.34106174
58Abnormal albumin level (HP:0012116)2.34106174
59Hypoplasia of the thymus (HP:0000778)2.30929550
60Increased CSF protein (HP:0002922)2.30168491
61Abnormality of urine glucose concentration (HP:0011016)2.30070155
62Glycosuria (HP:0003076)2.30070155
63Intestinal atresia (HP:0011100)2.27551297
64Abnormal respiratory motile cilium physiology (HP:0012261)2.19993722
65Abnormality of renal excretion (HP:0011036)2.19698776
66Osteomalacia (HP:0002749)2.14892169
67Premature loss of primary teeth (HP:0006323)2.13285687
68Short middle phalanx of the 5th finger (HP:0004220)2.12893771
69Decreased circulating renin level (HP:0003351)2.11938399
70Late onset (HP:0003584)2.11570220
71Hemiparesis (HP:0001269)2.10950119
72Hypoproteinemia (HP:0003075)2.10769394
73Generalized aminoaciduria (HP:0002909)2.10299478
74Protrusio acetabuli (HP:0003179)2.09359731
75Hypothermia (HP:0002045)2.08270494
76Potter facies (HP:0002009)2.08138220
77Facial shape deformation (HP:0011334)2.08138220
78Cystic liver disease (HP:0006706)2.04110085
79Constricted visual fields (HP:0001133)2.02157739
80Onycholysis (HP:0001806)13.5007778
81Split foot (HP:0001839)1.98571396
82Stage 5 chronic kidney disease (HP:0003774)1.96808839
83Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.96743295
84Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.96289415
85Congenital, generalized hypertrichosis (HP:0004540)1.94064291
86Abnormality of potassium homeostasis (HP:0011042)1.93341142
87Ketosis (HP:0001946)1.92716887
88Parakeratosis (HP:0001036)1.92475644
89Wide cranial sutures (HP:0010537)1.92473898
90Renal Fanconi syndrome (HP:0001994)1.92035396
91Pendular nystagmus (HP:0012043)1.91436763
92Shallow orbits (HP:0000586)1.90999122
93Weak cry (HP:0001612)1.89453721
94Stomatitis (HP:0010280)1.89189130
95Congenital hepatic fibrosis (HP:0002612)1.88890712
96Cerebellar dysplasia (HP:0007033)1.88732885
97Decreased electroretinogram (ERG) amplitude (HP:0000654)1.88363380
98Type II diabetes mellitus (HP:0005978)1.87588756
99Premature rupture of membranes (HP:0001788)1.86374256
100Calf muscle hypertrophy (HP:0008981)1.85473020
1013-Methylglutaconic aciduria (HP:0003535)1.84534815
102Hypoplasia of the fovea (HP:0007750)1.83494107
103Aplasia/Hypoplasia of the fovea (HP:0008060)1.83494107
104Genetic anticipation (HP:0003743)1.83460796
105Muscle hypertrophy of the lower extremities (HP:0008968)1.82605562
106Stomach cancer (HP:0012126)1.82508281
107Double outlet right ventricle (HP:0001719)1.82227842
108Congenital malformation of the right heart (HP:0011723)1.82227842
109Abnormality of vitamin B metabolism (HP:0004340)1.79983271
110Tongue fasciculations (HP:0001308)1.79932598
111Turricephaly (HP:0000262)1.79890581
112Ulnar bowing (HP:0003031)1.78601128
113Gastrointestinal atresia (HP:0002589)1.77659584
114Abnormal blistering of the skin (HP:0008066)1.76786690
115Pyloric stenosis (HP:0002021)1.74285915
116Severe combined immunodeficiency (HP:0004430)1.73940343
117Renal cortical cysts (HP:0000803)1.73677709
118Infertility (HP:0000789)1.73310220
119Severe muscular hypotonia (HP:0006829)1.72502206
120Increased CSF lactate (HP:0002490)1.72406681
121Abnormality of the frontal sinuses (HP:0002687)1.71751437
122Spondylolisthesis (HP:0003302)1.70808674
123Anosmia (HP:0000458)1.69139739
124Carious teeth (HP:0000670)1.69026290
125Mitochondrial inheritance (HP:0001427)1.68907327
126Dehydration (HP:0001944)1.68737451
127Abnormality of the costochondral junction (HP:0000919)1.68709055
128Microdontia (HP:0000691)1.68106474
129Abnormality of the parietal bone (HP:0002696)1.67288119
130Congenital primary aphakia (HP:0007707)1.67140863
131Absent frontal sinuses (HP:0002688)1.66511359
132Aplasia/Hypoplasia of the earlobes (HP:0009906)1.66466224
133Optic nerve hypoplasia (HP:0000609)1.65894455
134Hypokalemia (HP:0002900)1.65708077
135Hyperglycemia (HP:0003074)1.65417384
136Tubulointerstitial fibrosis (HP:0005576)1.64636610
137Clumsiness (HP:0002312)1.64443350
138Hoarse voice (HP:0001609)1.64390697
139Fragile skin (HP:0001030)1.62937474
140Right ventricular cardiomyopathy (HP:0011663)1.57251772
141Coronal craniosynostosis (HP:0004440)1.53604384
142Blue sclerae (HP:0000592)1.52417735
143Aplasia cutis congenita (HP:0001057)1.50763071
144Bronchomalacia (HP:0002780)1.50601833
145Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.49300947
146Vertebral clefting (HP:0008428)1.45180209
147Aortic dissection (HP:0002647)1.44794884
148Oligodontia (HP:0000677)1.44581720
149Wormian bones (HP:0002645)1.42664792
150Oligodactyly (hands) (HP:0001180)1.42390800
151Decreased skull ossification (HP:0004331)1.42071223
152Multiple enchondromatosis (HP:0005701)1.41771172
153Osteolytic defects of the phalanges of the hand (HP:0009771)1.41198813
154Osteolytic defects of the hand bones (HP:0009699)1.41198813
155Enlarged penis (HP:0000040)1.40699979
156Hypotrichosis (HP:0001006)1.36260900
157X-linked dominant inheritance (HP:0001423)1.30507748
158Cerebral aneurysm (HP:0004944)1.30366688
159Irregular vertebral endplates (HP:0003301)1.28856994
160Abnormality of primary teeth (HP:0006481)1.28371875
161Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.25499681
162Autoimmune thrombocytopenia (HP:0001973)1.24120948
163Short hallux (HP:0010109)1.21419881
164Abnormality of skull ossification (HP:0002703)1.20581349
165Abnormality of dentin (HP:0010299)1.18544512
166Epileptic encephalopathy (HP:0200134)1.17679619
167Small epiphyses (HP:0010585)1.17074790
168Abnormal vertebral ossification (HP:0100569)1.17026241
169Humeroradial synostosis (HP:0003041)1.16459579
170Synostosis involving the elbow (HP:0003938)1.16459579
171Mitral valve prolapse (HP:0001634)1.15630442
172Alopecia of scalp (HP:0002293)1.12380912
173Absent eyebrow (HP:0002223)1.11847419
174Bowing of the arm (HP:0006488)1.11050977
175Bowed forearm bones (HP:0003956)1.11050977
176Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.10566475
177Ridged nail (HP:0001807)1.10332938
178Hyperhidrosis (HP:0000975)1.09657941
179Aplasia/Hypoplasia of the hallux (HP:0008362)1.09145622
180Choanal stenosis (HP:0000452)1.08650673
181Short middle phalanx of finger (HP:0005819)1.07895090
182Arterial tortuosity (HP:0005116)1.06303743
183Narrow nasal bridge (HP:0000446)1.06118336
184Striae distensae (HP:0001065)1.05205110
185Syringomyelia (HP:0003396)1.02116809
186Spinal cord lesions (HP:0100561)1.02116809
187Short 5th finger (HP:0009237)1.02099098
188Camptodactyly of finger (HP:0100490)1.00606793
189Bladder diverticulum (HP:0000015)1.00028669
190Deviation of the hallux (HP:0010051)0.98978785
191Aplasia/Hypoplasia of the 5th finger (HP:0006262)0.98884079
192Selective tooth agenesis (HP:0001592)0.98754138
193Rickets (HP:0002748)0.98678334
194Abnormality of the middle phalanx of the 5th finger (HP:0004219)0.97781723
195Abnormality of the fingernails (HP:0001231)0.97046446
196Femoral bowing (HP:0002980)0.96906873
197Status epilepticus (HP:0002133)0.96544744
198Radial bowing (HP:0002986)0.96231305
199Aqueductal stenosis (HP:0002410)0.95340023
200Peritonitis (HP:0002586)0.95040422

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K36.25398813
2FRK5.82540376
3BMPR1B5.55990484
4TRPM74.73090238
5PLK44.31065985
6CDK63.84188868
7INSRR3.22081163
8BMX2.62387478
9CDK82.60764339
10TGFBR12.55975391
11FGFR22.53416609
12CAMK42.35621988
13TRIB32.30745072
14MAP4K22.22712937
15ADRBK22.21135000
16RIPK12.19053555
17PDGFRA2.06590662
18STK38L2.02310945
19DYRK1A1.88402421
20TLK11.88192575
21CAMK11.84442758
22PIK3CG1.77013299
23LRRK21.76500191
24OBSCN1.59585445
25FGFR11.59331733
26GRK11.58917779
27LMTK21.58189585
28STK381.57912517
29TGFBR21.56887354
30WNK31.55085886
31PHKG21.54319421
32PHKG11.54319421
33DDR21.49677554
34PIM21.47824351
35ZAK1.47335610
36PAK41.46571589
37ACVR1B1.43313798
38CDK91.40845046
39NTRK11.39284012
40PNCK1.35154192
41EIF2AK31.34749050
42FER1.32719249
43EPHB11.30282991
44PKN21.29965619
45PINK11.24249062
46WNK41.24008840
47TAOK31.22558270
48PRKD11.18667503
49DYRK1B1.17837727
50MKNK21.16989681
51RET1.16718252
52SCYL21.16447837
53MAPK41.14586431
54TTN1.13109581
55BRD41.12169865
56PAK31.12158368
57PAK21.11997973
58HIPK21.11336919
59EPHA41.09915345
60OXSR11.09118468
61NTRK31.08580490
62AKT31.08274913
63TEC1.06913332
64NUAK11.06396295
65PTK21.06171450
66PAK61.06088837
67PTK61.04912760
68LATS11.02879754
69VRK11.02741350
70GSK3A1.01549078
71BRSK21.01177453
72MAPKAPK30.98928553
73PRKD30.98217918
74EPHA30.93585401
75MAP3K70.92472412
76PRKCE0.91810102
77CAMKK20.91173503
78KSR20.90876804
79PDK20.88698163
80MST40.87435273
81MAPK120.87194338
82STK390.85766603
83FGFR40.83973756
84CAMK1G0.82849325
85CSNK1A1L0.82841536
86MAP3K20.77729475
87ERN10.75965012
88DAPK20.75041430
89TYRO30.75027826
90CDK40.74797825
91KIT0.73290158
92PRKCZ0.73288893
93MINK10.73135794
94TIE10.72859971
95MAP3K40.72506033
96SIK10.71987124
97FGR0.71431276
98BCR0.70413196
99NLK0.69557909
100PDGFRB0.69325861
101MUSK0.69264954
102UHMK10.68023573
103PRKCG0.66975568
104CDC42BPA0.66877840
105CDK190.65525282
106LATS20.65475000
107PRKAA20.64967469
108CAMKK10.64364710
109PRKCH0.64325996
110CDK140.63436604
111EIF2AK10.63418407
112WNK10.63097515
113PDK10.63059236
114ITK0.62398099
115ROCK20.62237164
116MAPK70.62226639
117CDK50.62207455
118TNK20.62160560
119DAPK30.60628736
120KSR10.59691141
121TESK10.58475370
122ERBB30.58443214
123CAMK2A0.58089128
124BLK0.56652019
125CDK150.56645085
126PIK3CA0.56532332
127RIPK40.55231446
128BMPR20.54651360
129STK30.54350784
130CDK180.53446746
131FGFR30.53325868
132IRAK10.52456130
133EPHB20.52323471
134SGK20.52270375
135MAPK130.51687518
136PRKAA10.50295117
137SRC0.50045322
138IKBKB0.50002757
139FYN0.49865952
140MAP3K100.49817598
141MAPK150.49643756
142CDK11A0.48856880
143CASK0.48851543
144CSNK1G20.48771183
145CSNK1G30.48633843
146ADRBK10.48524062
147MET0.47472763
148TXK0.47297735
149PKN10.47182112
150ROCK10.47089926
151TNIK0.46446715
152PLK20.46017350
153CSNK1G10.45326525
154PRKG10.45120636
155CHUK0.44575686
156PTK2B0.43675692
157IGF1R0.43596375
158EGFR0.41960522
159SYK0.40794350
160PDPK10.39069005
161PLK30.38023678
162ALK0.37676628
163CDK70.36704508
164MAPK110.36567201
165PRKACA0.35868488
166ERBB20.35809264
167PRKCI0.35040758
168CSNK1D0.34568143
169STK100.32847489
170FES0.32401630
171MAP2K40.32233766
172CSK0.31807794
173BCKDK0.31786135
174PRKCQ0.31643491
175ABL10.31623266
176NTRK20.31420372
177SGK2230.31342959
178SGK4940.31342959
179MAPKAPK50.30210224
180PRKG20.29671491
181STK240.29249174

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.66915660
2Maturity onset diabetes of the young_Homo sapiens_hsa049503.74655376
3Amoebiasis_Homo sapiens_hsa051463.15023911
4Small cell lung cancer_Homo sapiens_hsa052222.88468977
5Folate biosynthesis_Homo sapiens_hsa007902.88010477
6Focal adhesion_Homo sapiens_hsa045102.44806839
7Phototransduction_Homo sapiens_hsa047442.42879535
8Type I diabetes mellitus_Homo sapiens_hsa049402.35763815
9Toxoplasmosis_Homo sapiens_hsa051452.24068725
10alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.15525271
11Intestinal immune network for IgA production_Homo sapiens_hsa046722.15025267
12Linoleic acid metabolism_Homo sapiens_hsa005912.06473987
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.04436722
14Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.01292656
15Caffeine metabolism_Homo sapiens_hsa002321.93711466
16Asthma_Homo sapiens_hsa053101.92718103
17Allograft rejection_Homo sapiens_hsa053301.91930850
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.90370396
19Basal cell carcinoma_Homo sapiens_hsa052171.88598513
20Autoimmune thyroid disease_Homo sapiens_hsa053201.88371938
21Tryptophan metabolism_Homo sapiens_hsa003801.82591160
22Nitrogen metabolism_Homo sapiens_hsa009101.82508069
23Fatty acid biosynthesis_Homo sapiens_hsa000611.69993053
24Hedgehog signaling pathway_Homo sapiens_hsa043401.69957450
25Graft-versus-host disease_Homo sapiens_hsa053321.69380019
26Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.66548485
27Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.64500049
28Selenocompound metabolism_Homo sapiens_hsa004501.63224818
29Proteoglycans in cancer_Homo sapiens_hsa052051.57550356
30Vitamin B6 metabolism_Homo sapiens_hsa007501.53499145
31Oxidative phosphorylation_Homo sapiens_hsa001901.53278569
32Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.44083986
33Gastric acid secretion_Homo sapiens_hsa049711.40682137
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.39821449
35PI3K-Akt signaling pathway_Homo sapiens_hsa041511.38737663
36GnRH signaling pathway_Homo sapiens_hsa049121.33811565
37Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32975858
38Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.31419318
39Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.29363238
40Ether lipid metabolism_Homo sapiens_hsa005651.28974396
41Hippo signaling pathway_Homo sapiens_hsa043901.28273513
42Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.27839654
43Adherens junction_Homo sapiens_hsa045201.26354169
44Bile secretion_Homo sapiens_hsa049761.26224169
45Wnt signaling pathway_Homo sapiens_hsa043101.23300659
46Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.19001175
47Propanoate metabolism_Homo sapiens_hsa006401.18033682
48Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.17357697
49ABC transporters_Homo sapiens_hsa020101.17282343
50Salivary secretion_Homo sapiens_hsa049701.16505474
51Peroxisome_Homo sapiens_hsa041461.14643703
52Pentose and glucuronate interconversions_Homo sapiens_hsa000401.13321341
53Pathways in cancer_Homo sapiens_hsa052001.12867486
54Melanogenesis_Homo sapiens_hsa049161.12200217
55Mineral absorption_Homo sapiens_hsa049781.09735608
56Fatty acid degradation_Homo sapiens_hsa000711.06704972
57TGF-beta signaling pathway_Homo sapiens_hsa043501.06109368
58Bladder cancer_Homo sapiens_hsa052191.05877831
59Taste transduction_Homo sapiens_hsa047421.02403064
60Dilated cardiomyopathy_Homo sapiens_hsa054141.02302738
61SNARE interactions in vesicular transport_Homo sapiens_hsa041301.02161077
62MicroRNAs in cancer_Homo sapiens_hsa052061.01660015
63Vibrio cholerae infection_Homo sapiens_hsa051101.01566683
64Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.00300397
65Antigen processing and presentation_Homo sapiens_hsa046120.98965413
66Collecting duct acid secretion_Homo sapiens_hsa049660.97666180
67Glioma_Homo sapiens_hsa052140.96899409
68Leukocyte transendothelial migration_Homo sapiens_hsa046700.96241276
69Long-term depression_Homo sapiens_hsa047300.95767015
70Primary bile acid biosynthesis_Homo sapiens_hsa001200.94806986
71Glycerophospholipid metabolism_Homo sapiens_hsa005640.93657135
72Tight junction_Homo sapiens_hsa045300.92599014
73Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.90077246
74Protein digestion and absorption_Homo sapiens_hsa049740.89738557
75Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.88980801
76Long-term potentiation_Homo sapiens_hsa047200.88405027
77Synaptic vesicle cycle_Homo sapiens_hsa047210.88254809
78Thyroid hormone synthesis_Homo sapiens_hsa049180.87770004
79Chronic myeloid leukemia_Homo sapiens_hsa052200.86881764
80Circadian entrainment_Homo sapiens_hsa047130.86482243
81Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.86149421
82Complement and coagulation cascades_Homo sapiens_hsa046100.84529663
83Retinol metabolism_Homo sapiens_hsa008300.84393643
84Arachidonic acid metabolism_Homo sapiens_hsa005900.84126455
85Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.83667185
86Gap junction_Homo sapiens_hsa045400.83597084
87Parkinsons disease_Homo sapiens_hsa050120.82453496
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.82359495
89Fat digestion and absorption_Homo sapiens_hsa049750.82088657
90Pancreatic secretion_Homo sapiens_hsa049720.81800897
91Calcium signaling pathway_Homo sapiens_hsa040200.81281584
92Protein export_Homo sapiens_hsa030600.79344740
93Axon guidance_Homo sapiens_hsa043600.79024631
94Platelet activation_Homo sapiens_hsa046110.78987998
95Arginine biosynthesis_Homo sapiens_hsa002200.78491974
96Type II diabetes mellitus_Homo sapiens_hsa049300.77048921
97Fatty acid metabolism_Homo sapiens_hsa012120.76982644
98Notch signaling pathway_Homo sapiens_hsa043300.75664365
99Morphine addiction_Homo sapiens_hsa050320.75184234
100beta-Alanine metabolism_Homo sapiens_hsa004100.74619909
101Melanoma_Homo sapiens_hsa052180.73916450
102Thyroid hormone signaling pathway_Homo sapiens_hsa049190.73509574
103Nicotine addiction_Homo sapiens_hsa050330.73133886
104Glycerolipid metabolism_Homo sapiens_hsa005610.72651401
105Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.72214340
106Chemical carcinogenesis_Homo sapiens_hsa052040.72087498
107Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.71869492
108GABAergic synapse_Homo sapiens_hsa047270.71120924
109Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.70807517
110Homologous recombination_Homo sapiens_hsa034400.69246991
111Cholinergic synapse_Homo sapiens_hsa047250.68906530
112Renin secretion_Homo sapiens_hsa049240.68661079
113Insulin secretion_Homo sapiens_hsa049110.68390633
114Prostate cancer_Homo sapiens_hsa052150.67933418
115Steroid hormone biosynthesis_Homo sapiens_hsa001400.67575338
116Estrogen signaling pathway_Homo sapiens_hsa049150.66923436
117Glutamatergic synapse_Homo sapiens_hsa047240.66680075
118Regulation of autophagy_Homo sapiens_hsa041400.66539862
119Phagosome_Homo sapiens_hsa041450.66334542
120Rheumatoid arthritis_Homo sapiens_hsa053230.66304944
121Olfactory transduction_Homo sapiens_hsa047400.65206208
122Arginine and proline metabolism_Homo sapiens_hsa003300.64162307
123Oxytocin signaling pathway_Homo sapiens_hsa049210.63670915
124Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63027801
125Aldosterone synthesis and secretion_Homo sapiens_hsa049250.62109417
126Circadian rhythm_Homo sapiens_hsa047100.61923548
127Dopaminergic synapse_Homo sapiens_hsa047280.61152260
128Alzheimers disease_Homo sapiens_hsa050100.59608475
129Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.58721895
130RNA degradation_Homo sapiens_hsa030180.58143662
131AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.57585348
132Metabolic pathways_Homo sapiens_hsa011000.57096857
133Non-homologous end-joining_Homo sapiens_hsa034500.56295806
134Pancreatic cancer_Homo sapiens_hsa052120.55657610
135Huntingtons disease_Homo sapiens_hsa050160.55215113
136Rap1 signaling pathway_Homo sapiens_hsa040150.54358833
137Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.54072751
138Primary immunodeficiency_Homo sapiens_hsa053400.53790051
139Endometrial cancer_Homo sapiens_hsa052130.53403562
140Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.53256097
141Vascular smooth muscle contraction_Homo sapiens_hsa042700.53232332
142RNA polymerase_Homo sapiens_hsa030200.52903361
143Regulation of actin cytoskeleton_Homo sapiens_hsa048100.52849008
144Fanconi anemia pathway_Homo sapiens_hsa034600.52460126
145Purine metabolism_Homo sapiens_hsa002300.52265879
146Dorso-ventral axis formation_Homo sapiens_hsa043200.51967959
147Central carbon metabolism in cancer_Homo sapiens_hsa052300.50597184
148Butanoate metabolism_Homo sapiens_hsa006500.50148174
149Non-small cell lung cancer_Homo sapiens_hsa052230.50071684
150Basal transcription factors_Homo sapiens_hsa030220.48600571
151Sulfur metabolism_Homo sapiens_hsa009200.48284579
152Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48137509
153Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.47922718
154Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47634992
155Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.47528191
156Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.47452664
157Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.46731387
1582-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.46617309
159Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.46483315
160Sulfur relay system_Homo sapiens_hsa041220.45767380
161Renal cell carcinoma_Homo sapiens_hsa052110.44624820
162cGMP-PKG signaling pathway_Homo sapiens_hsa040220.42699534
163Lysosome_Homo sapiens_hsa041420.42485907
164Sphingolipid metabolism_Homo sapiens_hsa006000.41420228
165Cardiac muscle contraction_Homo sapiens_hsa042600.39444779
166cAMP signaling pathway_Homo sapiens_hsa040240.38321578
167Viral myocarditis_Homo sapiens_hsa054160.38244876
168Glucagon signaling pathway_Homo sapiens_hsa049220.37794342
169Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.37431692
170Amphetamine addiction_Homo sapiens_hsa050310.35388834
171Malaria_Homo sapiens_hsa051440.35306730
172Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.33605485
173Serotonergic synapse_Homo sapiens_hsa047260.33084300
174Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.31822317
175Vitamin digestion and absorption_Homo sapiens_hsa049770.30871260

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