NPAS1

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





Description: The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)7.61769318
2locomotory exploration behavior (GO:0035641)6.71513341
3regulation of short-term neuronal synaptic plasticity (GO:0048172)6.68422625
4synaptic vesicle exocytosis (GO:0016079)6.25845299
5neuron cell-cell adhesion (GO:0007158)6.16279469
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.12298713
7positive regulation of synapse maturation (GO:0090129)5.95787974
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.80571606
9synaptic vesicle maturation (GO:0016188)5.74012873
10protein localization to synapse (GO:0035418)5.69633256
11regulation of glutamate receptor signaling pathway (GO:1900449)5.69245316
12exploration behavior (GO:0035640)5.39273419
13glutamate secretion (GO:0014047)5.33600273
14layer formation in cerebral cortex (GO:0021819)5.29347793
15neurotransmitter secretion (GO:0007269)5.24566493
16positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.10483145
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.09072397
18gamma-aminobutyric acid transport (GO:0015812)4.99049388
19regulation of synaptic vesicle exocytosis (GO:2000300)4.98349847
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.84047509
21synaptic vesicle docking involved in exocytosis (GO:0016081)4.78616210
22regulation of synapse maturation (GO:0090128)4.61477157
23ribosomal small subunit biogenesis (GO:0042274)4.58256753
24regulation of synaptic vesicle transport (GO:1902803)4.49183101
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.44113767
26regulation of neuronal synaptic plasticity (GO:0048168)4.42274285
27outer ear morphogenesis (GO:0042473)4.31975475
28neuronal action potential propagation (GO:0019227)4.29677489
29proline transport (GO:0015824)4.17931354
30proline biosynthetic process (GO:0006561)4.08107272
31regulation of mammary gland epithelial cell proliferation (GO:0033599)4.07691930
32neuron recognition (GO:0008038)4.07660917
33long-term memory (GO:0007616)4.07507311
34neurotransmitter transport (GO:0006836)4.07128007
35regulation of synapse structural plasticity (GO:0051823)4.02511492
36positive regulation of membrane potential (GO:0045838)4.02340446
37glutamate receptor signaling pathway (GO:0007215)4.00433393
38synaptic transmission, glutamatergic (GO:0035249)3.97698444
39peptidyl-arginine omega-N-methylation (GO:0035247)3.96948550
40dendritic spine morphogenesis (GO:0060997)3.93914721
41neurotransmitter-gated ion channel clustering (GO:0072578)3.91350992
42L-serine metabolic process (GO:0006563)3.84986135
43neuron-neuron synaptic transmission (GO:0007270)3.82803504
44regulation of neurotransmitter levels (GO:0001505)3.81255430
45histone arginine methylation (GO:0034969)3.80798262
46regulation of excitatory postsynaptic membrane potential (GO:0060079)3.77638067
47heterochromatin organization (GO:0070828)3.73224586
48negative regulation of synaptic transmission, GABAergic (GO:0032229)3.70620019
49regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.67942086
50regulation of dendritic spine morphogenesis (GO:0061001)3.64222100
51long-term synaptic potentiation (GO:0060291)3.60272731
52transmission of nerve impulse (GO:0019226)3.59895696
53maturation of SSU-rRNA (GO:0030490)3.57671815
54regulation of synaptic plasticity (GO:0048167)3.57506442
55regulation of postsynaptic membrane potential (GO:0060078)3.56848401
56synapse assembly (GO:0007416)3.56327206
57regulation of synaptic transmission, glutamatergic (GO:0051966)3.55418786
58positive regulation of dendritic spine morphogenesis (GO:0061003)3.51281151
59cell migration in hindbrain (GO:0021535)3.50172084
60intraspecies interaction between organisms (GO:0051703)3.49649230
61social behavior (GO:0035176)3.49649230
62UTP biosynthetic process (GO:0006228)3.49641677
63synaptic vesicle endocytosis (GO:0048488)3.47309058
64positive regulation of synapse assembly (GO:0051965)3.46690666
65tooth mineralization (GO:0034505)3.46529889
66* startle response (GO:0001964)3.40137171
67protein retention in ER lumen (GO:0006621)3.39873266
68negative regulation of microtubule polymerization (GO:0031115)3.39441087
69postsynaptic membrane organization (GO:0001941)3.38948048
70sodium ion export (GO:0071436)3.38164845
71learning (GO:0007612)3.35995142
72cellular potassium ion homeostasis (GO:0030007)3.34841865
73positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.34450836
74membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.33719005
75axonal fasciculation (GO:0007413)3.32825174
76activation of protein kinase A activity (GO:0034199)3.28796707
77gamma-aminobutyric acid signaling pathway (GO:0007214)3.28414379
78positive regulation of fibroblast migration (GO:0010763)3.27946127
79dendrite morphogenesis (GO:0048813)3.26106516
80pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.24752656
81regulation of vesicle fusion (GO:0031338)3.24543022
82peptidyl-arginine methylation (GO:0018216)3.23987636
83peptidyl-arginine N-methylation (GO:0035246)3.23987636
84cochlea morphogenesis (GO:0090103)3.23966108
85pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)3.23854962
86regulation of neurotransmitter secretion (GO:0046928)3.23014951
87positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.21146459
88neuromuscular process controlling balance (GO:0050885)3.20754938
89positive regulation of dendritic spine development (GO:0060999)3.20205718
90neuronal ion channel clustering (GO:0045161)3.19601756
91GTP biosynthetic process (GO:0006183)3.17371853
92mating behavior (GO:0007617)3.16635724
93G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.14828815
94proximal/distal pattern formation (GO:0009954)3.13057764
95regulation of dendritic spine development (GO:0060998)3.12609023
96UTP metabolic process (GO:0046051)3.12434129
97detection of calcium ion (GO:0005513)3.12193457
98muscle cell fate commitment (GO:0042693)3.11758589
99planar cell polarity pathway involved in neural tube closure (GO:0090179)3.11077407
100guanosine-containing compound biosynthetic process (GO:1901070)3.10787328
101viral transcription (GO:0019083)3.09468164
102synapse organization (GO:0050808)3.09419631
103membrane depolarization (GO:0051899)3.06843807
104protein maturation by protein folding (GO:0022417)3.05665715
105negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.04921885
106cerebellar Purkinje cell differentiation (GO:0021702)3.04001407
107regulation of synaptic transmission (GO:0050804)3.03453807
108regulation of synaptic transmission, GABAergic (GO:0032228)3.03402462
109maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.02967804
110mitochondrial fragmentation involved in apoptotic process (GO:0043653)3.00867321
111DNA replication checkpoint (GO:0000076)2.99571146
112CTP biosynthetic process (GO:0006241)2.99559397
113CTP metabolic process (GO:0046036)2.99559397
114positive regulation of synaptic transmission (GO:0050806)2.98503442
115regulation of translational fidelity (GO:0006450)2.98347958
116membrane hyperpolarization (GO:0060081)2.98344319
117pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)2.97796070
118establishment of synaptic vesicle localization (GO:0097480)2.97676874
119synaptic vesicle transport (GO:0048489)2.97676874
120synaptic transmission (GO:0007268)2.96953236
121behavioral fear response (GO:0001662)2.96034025
122behavioral defense response (GO:0002209)2.96034025
123glycine transport (GO:0015816)2.93892625
124pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.93206991
125regulation of neurotransmitter transport (GO:0051588)2.90034199
126translational termination (GO:0006415)2.88369595
127protein insertion into membrane (GO:0051205)2.87896710
128central nervous system projection neuron axonogenesis (GO:0021952)2.87812852
129GDP-mannose metabolic process (GO:0019673)2.87702547
130regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.87366248
131regulation of synapse assembly (GO:0051963)2.87213926
132prepulse inhibition (GO:0060134)2.84993171
133clathrin coat assembly (GO:0048268)2.84869191
134positive regulation of synaptic transmission, GABAergic (GO:0032230)2.84509249
135membrane depolarization during action potential (GO:0086010)2.84428530
136negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.81729180
137regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.77820740
138ribosomal small subunit assembly (GO:0000028)2.75514485
139translational elongation (GO:0006414)2.74799206
140proline metabolic process (GO:0006560)2.73859916
141convergent extension (GO:0060026)2.66729886
142chromatin assembly (GO:0031497)2.65842443
143nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.64169294
144metallo-sulfur cluster assembly (GO:0031163)2.64152529
145iron-sulfur cluster assembly (GO:0016226)2.64152529
146atrial septum morphogenesis (GO:0060413)2.63453260
147regulation of glucocorticoid metabolic process (GO:0031943)2.63101062
148sulfur amino acid catabolic process (GO:0000098)2.62364196
149middle ear morphogenesis (GO:0042474)2.60867236
150negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.60597957
151regulation of translational termination (GO:0006449)2.58877805
152negative regulation of cell aging (GO:0090344)2.56658688
153DNA replication initiation (GO:0006270)2.55182272
154pattern specification involved in kidney development (GO:0061004)2.54630281
155adenine nucleotide transport (GO:0051503)2.52144901
156rRNA transcription (GO:0009303)2.51323301
157ribonucleoprotein complex biogenesis (GO:0022613)2.50806297
158lymph vessel development (GO:0001945)2.49997964
159cranial nerve morphogenesis (GO:0021602)2.49791309
160deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.45542884
161protein heterotrimerization (GO:0070208)2.41360707
162DNA damage response, detection of DNA damage (GO:0042769)2.41299619
163protein complex localization (GO:0031503)2.40639236
164outflow tract septum morphogenesis (GO:0003148)2.37835690
165regulation of nuclear cell cycle DNA replication (GO:0033262)2.37606661
166apoptotic process involved in morphogenesis (GO:0060561)2.37242016
167DNA unwinding involved in DNA replication (GO:0006268)2.36777256
168cellular protein complex disassembly (GO:0043624)2.36568658
169SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.36034342
170viral life cycle (GO:0019058)2.35538511
171peptidyl-histidine modification (GO:0018202)2.34601561
172serine family amino acid biosynthetic process (GO:0009070)2.34010040
173protein complex disassembly (GO:0043241)2.33979312
174protein-DNA complex disassembly (GO:0032986)2.31592092
175nucleosome disassembly (GO:0006337)2.31592092
176cotranslational protein targeting to membrane (GO:0006613)2.30682731
177protein targeting to ER (GO:0045047)2.30075682
178regulation of helicase activity (GO:0051095)2.29988683
179regulation of early endosome to late endosome transport (GO:2000641)2.29842013
180regulation of cell aging (GO:0090342)2.27514948
181negative regulation of Notch signaling pathway (GO:0045746)2.26100795
182chaperone-mediated protein transport (GO:0072321)2.26093853
183nuclear envelope reassembly (GO:0031468)2.25557416
184mitotic nuclear envelope reassembly (GO:0007084)2.25557416
185Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.24291920
186pyrimidine nucleotide biosynthetic process (GO:0006221)2.23371854
187DNA strand renaturation (GO:0000733)2.19944889
188ribosomal large subunit biogenesis (GO:0042273)2.18677536
189regulation of mitochondrial translation (GO:0070129)2.17823835
190embryonic skeletal joint morphogenesis (GO:0060272)2.17633425
191mitochondrial fusion (GO:0008053)2.17511720
192macromolecular complex disassembly (GO:0032984)2.17434314
193COPI coating of Golgi vesicle (GO:0048205)2.17326796
194Golgi transport vesicle coating (GO:0048200)2.17326796

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.60703447
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.96278081
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.17893044
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.15254207
5GBX2_23144817_ChIP-Seq_PC3_Human3.11708665
6REST_21632747_ChIP-Seq_MESCs_Mouse3.05329862
7SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.93156493
8ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.80502498
9HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.80217897
10MYC_18555785_ChIP-Seq_MESCs_Mouse2.71100321
11EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.59428751
12* XRN2_22483619_ChIP-Seq_HELA_Human2.58584408
13* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.58557888
14* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.58557888
15RARB_27405468_Chip-Seq_BRAIN_Mouse2.55231655
16* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.53151954
17* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.52700529
18* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.50124277
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.49904396
20* REST_18959480_ChIP-ChIP_MESCs_Mouse2.49653904
21CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.47323250
22* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.47289315
23* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.43578761
24* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42619614
25THAP11_20581084_ChIP-Seq_MESCs_Mouse2.34054986
26DROSHA_22980978_ChIP-Seq_HELA_Human2.33207377
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.30950317
28AR_21572438_ChIP-Seq_LNCaP_Human2.29150885
29* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.26996764
30RNF2_27304074_Chip-Seq_ESCs_Mouse2.26854071
31EZH2_27294783_Chip-Seq_ESCs_Mouse2.23429473
32E2F7_22180533_ChIP-Seq_HELA_Human2.17992282
33MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.13595996
34MYC_18358816_ChIP-ChIP_MESCs_Mouse2.12712803
35JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.11967520
36LXR_22292898_ChIP-Seq_THP-1_Human2.11207873
37CCND1_20090754_ChIP-ChIP_RETINA_Mouse2.10694097
38TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.08269219
39CTBP2_25329375_ChIP-Seq_LNCAP_Human2.01750848
40EED_16625203_ChIP-ChIP_MESCs_Mouse2.00777416
41TAF15_26573619_Chip-Seq_HEK293_Human1.96253414
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.95017564
43VDR_21846776_ChIP-Seq_THP-1_Human1.93529833
44DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.90678026
45TET1_21451524_ChIP-Seq_MESCs_Mouse1.88304405
46* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.86524947
47ZNF274_21170338_ChIP-Seq_K562_Hela1.86380382
48IKZF1_21737484_ChIP-ChIP_HCT116_Human1.85070411
49MYC_19079543_ChIP-ChIP_MESCs_Mouse1.81785231
50MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.79513658
51ETS1_20019798_ChIP-Seq_JURKAT_Human1.75879001
52ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.75550190
53DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.74944337
54MYC_19030024_ChIP-ChIP_MESCs_Mouse1.74825237
55FOXM1_23109430_ChIP-Seq_U2OS_Human1.74795851
56RARG_19884340_ChIP-ChIP_MEFs_Mouse1.74514315
57P68_20966046_ChIP-Seq_HELA_Human1.71025084
58SRY_22984422_ChIP-ChIP_TESTIS_Rat1.64738359
59GABP_19822575_ChIP-Seq_HepG2_Human1.64482623
60ERG_21242973_ChIP-ChIP_JURKAT_Human1.61514490
61CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.61158848
62SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.60917276
63ELK3_25401928_ChIP-Seq_HUVEC_Human1.59759219
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.57871657
65ZFP57_27257070_Chip-Seq_ESCs_Mouse1.56593208
66TTF2_22483619_ChIP-Seq_HELA_Human1.53997417
67CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.53240296
68KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.52397032
69ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.52183887
70SMAD4_21799915_ChIP-Seq_A2780_Human1.49254004
71CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.48893970
72RACK7_27058665_Chip-Seq_MCF-7_Human1.48324537
73GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.47197519
74PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45309458
75DCP1A_22483619_ChIP-Seq_HELA_Human1.44974594
76MYC_22102868_ChIP-Seq_BL_Human1.43495962
77SOX2_21211035_ChIP-Seq_LN229_Gbm1.42252801
78NELFA_20434984_ChIP-Seq_ESCs_Mouse1.41501702
79NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.40336629
80SA1_27219007_Chip-Seq_ERYTHROID_Human1.40286307
81THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.40169463
82* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.39842041
83SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.39704817
84ZFX_18555785_ChIP-Seq_MESCs_Mouse1.39422891
85RING1B_27294783_Chip-Seq_ESCs_Mouse1.39280851
86FOXP1_21924763_ChIP-Seq_HESCs_Human1.38995272
87UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.38462861
88E2F1_18555785_ChIP-Seq_MESCs_Mouse1.37084732
89* TP63_19390658_ChIP-ChIP_HaCaT_Human1.36608539
90NANOG_18555785_ChIP-Seq_MESCs_Mouse1.33991834
91SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.33278968
92POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.32314341
93POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.30843292
94P300_19829295_ChIP-Seq_ESCs_Human1.30833718
95CTCF_18555785_ChIP-Seq_MESCs_Mouse1.30412106
96FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.30334095
97* CTCF_27219007_Chip-Seq_Bcells_Human1.30170313
98KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.29677445
99IGF1R_20145208_ChIP-Seq_DFB_Human1.29231414
100CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.28421642
101YY1_21170310_ChIP-Seq_MESCs_Mouse1.27858043
102TOP2B_26459242_ChIP-Seq_MCF-7_Human1.26666143
103CREB1_15753290_ChIP-ChIP_HEK293T_Human1.26600977
104AR_19668381_ChIP-Seq_PC3_Human1.25500225
105SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.23693025
106KLF4_18555785_ChIP-Seq_MESCs_Mouse1.23691781
107DNAJC2_21179169_ChIP-ChIP_NT2_Human1.23616288
108* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23583515
109TP53_20018659_ChIP-ChIP_R1E_Mouse1.23297596
110ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.22689962
111CTCF_27219007_Chip-Seq_ERYTHROID_Human1.22625627
112SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22592074
113PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.22521522
114AR_25329375_ChIP-Seq_VCAP_Human1.21120469
115TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.20415845
116TP53_22127205_ChIP-Seq_IMR90_Human1.20251966
117YAP1_20516196_ChIP-Seq_MESCs_Mouse1.19955091
118RNF2_27304074_Chip-Seq_NSC_Mouse1.19445720
119SMAD3_21741376_ChIP-Seq_EPCs_Human1.19435536
120KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.18816165
121MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.18544232
122ELF1_20517297_ChIP-Seq_JURKAT_Human1.18543175
123CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.18292813
124SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.18028937
125CREB1_26743006_Chip-Seq_LNCaP_Human1.17505686
126FUS_26573619_Chip-Seq_HEK293_Human1.17342251
127VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.16604487
128PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.16562083
129NR3C1_23031785_ChIP-Seq_PC12_Mouse1.14368407
130RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.14031097
131P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13982752
132RING1B_27294783_Chip-Seq_NPCs_Mouse1.11780344
133KDM2B_26808549_Chip-Seq_SUP-B15_Human1.11704479
134* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11699448
135* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.11553107
136ZFP281_18757296_ChIP-ChIP_E14_Mouse1.11246562
137* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.11043062
138KDM2B_26808549_Chip-Seq_DND41_Human1.10850137
139STAT3_23295773_ChIP-Seq_U87_Human1.10561779
140* RARA_24833708_ChIP-Seq_LIVER_Mouse1.09765602
141GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09587605
142TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09323553
143PIAS1_25552417_ChIP-Seq_VCAP_Human1.07799788
144RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07524674
145TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.07130645
146SMC4_20622854_ChIP-Seq_HELA_Human1.07113790
147MYCN_18555785_ChIP-Seq_MESCs_Mouse1.06841168
148ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.06633112
149ER_23166858_ChIP-Seq_MCF-7_Human1.06537492
150CTCF_26484167_Chip-Seq_Bcells_Mouse1.05668255
151CTCF_20526341_ChIP-Seq_ESCs_Human1.05277433
152TCF4_23295773_ChIP-Seq_U87_Human1.04542260
153MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04328017
154WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.03583060
155UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.02984370
156* KDM2B_26808549_Chip-Seq_K562_Human1.02887920
157WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02780777
158TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.02161694
159SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.01534900
160CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01023992
161BMI1_23680149_ChIP-Seq_NPCS_Mouse1.00645872
162AHR_22903824_ChIP-Seq_MCF-7_Human1.00604864
163MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.00343197
164* PHF8_20622854_ChIP-Seq_HELA_Human0.99829468
165PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.99631174
166NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.99356371
167BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.98801190
168ARNT_22903824_ChIP-Seq_MCF-7_Human0.98443759
169OCT4_18692474_ChIP-Seq_MEFs_Mouse0.97798838
170CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.97756258
171STAT6_21828071_ChIP-Seq_BEAS2B_Human0.95081512
172RUNX2_22187159_ChIP-Seq_PCA_Human0.94920281
173TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94415352
174NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94100787
175JUN_21703547_ChIP-Seq_K562_Human0.93412409
176SMAD3_21741376_ChIP-Seq_ESCs_Human0.93147745
177GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91796741
178AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90440180
179SMAD3_21741376_ChIP-Seq_HESCs_Human0.90325751
180CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90155169
181KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.89974165
182ZNF217_24962896_ChIP-Seq_MCF-7_Human0.89892455
183PRDM14_20953172_ChIP-Seq_ESCs_Human0.89480060
184POU3F2_20337985_ChIP-ChIP_501MEL_Human0.87589674
185* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.86131062

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.44841008
2* MP0003635_abnormal_synaptic_transmissio4.37964073
3MP0003880_abnormal_central_pattern4.19193549
4MP0002822_catalepsy3.63471131
5MP0009046_muscle_twitch3.56927072
6MP0002064_seizures3.51408631
7MP0009745_abnormal_behavioral_response3.51059477
8* MP0002063_abnormal_learning/memory/cond3.47707297
9MP0004270_analgesia3.46163809
10MP0010030_abnormal_orbit_morphology3.39928919
11MP0002249_abnormal_larynx_morphology3.11376755
12MP0002572_abnormal_emotion/affect_behav2.97827849
13MP0000049_abnormal_middle_ear2.95519107
14MP0005423_abnormal_somatic_nervous2.94216151
15MP0002735_abnormal_chemical_nociception2.92488593
16MP0002734_abnormal_mechanical_nocicepti2.66327134
17MP0001486_abnormal_startle_reflex2.57114984
18MP0008438_abnormal_cutaneous_collagen2.53933360
19MP0003705_abnormal_hypodermis_morpholog2.51380328
20MP0002272_abnormal_nervous_system2.44809397
21MP0001501_abnormal_sleep_pattern2.43319632
22MP0001968_abnormal_touch/_nociception2.42540183
23MP0003111_abnormal_nucleus_morphology2.24538250
24MP0002184_abnormal_innervation2.18929313
25MP0001440_abnormal_grooming_behavior2.12278542
26MP0003329_amyloid_beta_deposits2.10758421
27MP0008932_abnormal_embryonic_tissue2.10703954
28MP0009384_cardiac_valve_regurgitation2.00998632
29MP0003787_abnormal_imprinting2.00453277
30MP0002733_abnormal_thermal_nociception2.00037607
31MP0000678_abnormal_parathyroid_gland1.99889324
32MP0000778_abnormal_nervous_system1.99444435
33MP0001970_abnormal_pain_threshold1.97009885
34MP0002067_abnormal_sensory_capabilities1.94182958
35MP0003942_abnormal_urinary_system1.93417884
36MP0006292_abnormal_olfactory_placode1.87517179
37MP0004811_abnormal_neuron_physiology1.86881459
38MP0009780_abnormal_chondrocyte_physiolo1.85579419
39MP0008569_lethality_at_weaning1.84906304
40* MP0002557_abnormal_social/conspecific_i1.82492620
41MP0002736_abnormal_nociception_after1.75716478
42MP0004858_abnormal_nervous_system1.69144166
43MP0001346_abnormal_lacrimal_gland1.68401164
44MP0004272_abnormal_basement_membrane1.67498776
45MP0000955_abnormal_spinal_cord1.65576429
46MP0003693_abnormal_embryo_hatching1.64640992
47MP0004924_abnormal_behavior1.64026655
48MP0005386_behavior/neurological_phenoty1.64026655
49MP0003136_yellow_coat_color1.62815987
50MP0006276_abnormal_autonomic_nervous1.62555101
51MP0005257_abnormal_intraocular_pressure1.57643410
52MP0001984_abnormal_olfaction1.55085589
53MP0003937_abnormal_limbs/digits/tail_de1.52607681
54MP0010386_abnormal_urinary_bladder1.51820725
55MP0009250_abnormal_appendicular_skeleto1.51292911
56* MP0002066_abnormal_motor_capabilities/c1.50919550
57MP0004957_abnormal_blastocyst_morpholog1.50678103
58MP0002882_abnormal_neuron_morphology1.49076954
59MP0005646_abnormal_pituitary_gland1.45595492
60MP0003879_abnormal_hair_cell1.42203441
61MP0003077_abnormal_cell_cycle1.40966044
62MP0000534_abnormal_ureter_morphology1.39999447
63MP0002909_abnormal_adrenal_gland1.39926190
64MP0009379_abnormal_foot_pigmentation1.38733552
65MP0004142_abnormal_muscle_tone1.38597814
66MP0005503_abnormal_tendon_morphology1.38512264
67MP0004885_abnormal_endolymph1.35221968
68MP0003122_maternal_imprinting1.34226964
69MP0002697_abnormal_eye_size1.33992297
70MP0003279_aneurysm1.32630668
71MP0001661_extended_life_span1.32400591
72MP0002152_abnormal_brain_morphology1.28508559
73MP0005187_abnormal_penis_morphology1.27261492
74MP0000003_abnormal_adipose_tissue1.27033760
75MP0000750_abnormal_muscle_regeneration1.23939464
76MP0003755_abnormal_palate_morphology1.20672902
77MP0000566_synostosis1.20533738
78MP0001270_distended_abdomen1.20416147
79MP0005171_absent_coat_pigmentation1.20321342
80MP0001849_ear_inflammation1.17814513
81MP0002160_abnormal_reproductive_system1.17148263
82MP0002837_dystrophic_cardiac_calcinosis1.14671967
83MP0008789_abnormal_olfactory_epithelium1.14091687
84MP0004742_abnormal_vestibular_system1.13668063
85MP0002163_abnormal_gland_morphology1.13595508
86MP0001730_embryonic_growth_arrest1.13506271
87MP0000762_abnormal_tongue_morphology1.11715011
88MP0009053_abnormal_anal_canal1.11335415
89MP0002092_abnormal_eye_morphology1.10565764
90MP0000681_abnormal_thyroid_gland1.09984628
91MP0002085_abnormal_embryonic_tissue1.09645723
92MP0005501_abnormal_skin_physiology1.09346826
93MP0001905_abnormal_dopamine_level1.09147555
94MP0001502_abnormal_circadian_rhythm1.08431211
95MP0005508_abnormal_skeleton_morphology1.07385157
96MP0001958_emphysema1.07345001
97MP0005394_taste/olfaction_phenotype1.07159470
98MP0005499_abnormal_olfactory_system1.07159470
99MP0000537_abnormal_urethra_morphology1.06799564
100MP0000733_abnormal_muscle_development1.05978785
101MP0002116_abnormal_craniofacial_bone1.05720049
102MP0009672_abnormal_birth_weight1.05149537
103MP0000013_abnormal_adipose_tissue1.04869825
104MP0005645_abnormal_hypothalamus_physiol1.04548909
105MP0000350_abnormal_cell_proliferation1.04001938
106MP0010094_abnormal_chromosome_stability1.03992472
107MP0002069_abnormal_eating/drinking_beha1.03774667
108MP0002233_abnormal_nose_morphology1.03604916
109MP0003385_abnormal_body_wall1.03589077
110MP0001529_abnormal_vocalization1.03057637
111MP0008961_abnormal_basal_metabolism1.03005981
112MP0001293_anophthalmia1.01502561
113MP0002653_abnormal_ependyma_morphology0.98341317
114MP0002177_abnormal_outer_ear0.97994106
115MP0000604_amyloidosis0.97804202
116MP0002111_abnormal_tail_morphology0.95477257
117MP0003631_nervous_system_phenotype0.94856592
118MP0001299_abnormal_eye_distance/0.94704997
119MP0002932_abnormal_joint_morphology0.93954905
120MP0003633_abnormal_nervous_system0.92659685
121MP0002877_abnormal_melanocyte_morpholog0.92556580
122MP0003632_abnormal_nervous_system0.91911090
123MP0005380_embryogenesis_phenotype0.91770228
124MP0001672_abnormal_embryogenesis/_devel0.91770228
125MP0002114_abnormal_axial_skeleton0.91496154
126MP0005623_abnormal_meninges_morphology0.91216865
127MP0001177_atelectasis0.90949877
128MP0008877_abnormal_DNA_methylation0.90843724
129MP0005076_abnormal_cell_differentiation0.90632648
130MP0002254_reproductive_system_inflammat0.90428199
131MP0002229_neurodegeneration0.90121607
132MP0000428_abnormal_craniofacial_morphol0.89956707
133MP0001963_abnormal_hearing_physiology0.88383265
134MP0003634_abnormal_glial_cell0.87131606
135MP0001919_abnormal_reproductive_system0.85674687
136MP0003935_abnormal_craniofacial_develop0.85299521
137MP0003123_paternal_imprinting0.84967549
138MP0002089_abnormal_postnatal_growth/wei0.84966259
139MP0001697_abnormal_embryo_size0.84139282
140MP0004085_abnormal_heartbeat0.84052145
141MP0004133_heterotaxia0.83714143
142MP0002084_abnormal_developmental_patter0.83517681
143MP0002081_perinatal_lethality0.82915404
144MP0002080_prenatal_lethality0.80682845
145MP0003315_abnormal_perineum_morphology0.80351804
146MP0003115_abnormal_respiratory_system0.80038202
147MP0002752_abnormal_somatic_nervous0.78690133
148MP0003861_abnormal_nervous_system0.77298470
149MP0003121_genomic_imprinting0.76925731
150MP0000631_abnormal_neuroendocrine_gland0.75575640
151MP0001188_hyperpigmentation0.74977587
152MP0002090_abnormal_vision0.72158529
153MP0000751_myopathy0.72037841
154MP0008874_decreased_physiological_sensi0.70729843
155MP0003172_abnormal_lysosome_physiology0.70679232
156MP0005551_abnormal_eye_electrophysiolog0.69606588
157MP0004215_abnormal_myocardial_fiber0.69250706
158MP0010769_abnormal_survival0.65361032
159MP0002082_postnatal_lethality0.64678605
160MP0010770_preweaning_lethality0.64678605
161MP0004233_abnormal_muscle_weight0.63376057
162MP0005535_abnormal_body_temperature0.63247576
163MP0000920_abnormal_myelination0.62935411
164MP0003119_abnormal_digestive_system0.62129595
165MP0010768_mortality/aging0.61609581
166MP0008872_abnormal_physiological_respon0.59319880
167MP0001943_abnormal_respiration0.56781141
168MP0003075_altered_response_to0.56647899
169MP0003690_abnormal_glial_cell0.56616720
170* MP0003956_abnormal_body_size0.56311882
171MP0003938_abnormal_ear_development0.56105739
172MP0000569_abnormal_digit_pigmentation0.56035073
173MP0005448_abnormal_energy_balance0.54778618
174MP0002234_abnormal_pharynx_morphology0.53385055
175MP0002102_abnormal_ear_morphology0.53066610

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.02590852
2Myokymia (HP:0002411)5.66752740
3Focal seizures (HP:0007359)5.43926341
4Visual hallucinations (HP:0002367)5.42184168
5Atonic seizures (HP:0010819)4.96127407
6Epileptic encephalopathy (HP:0200134)4.70020880
7Febrile seizures (HP:0002373)4.29767384
8Progressive inability to walk (HP:0002505)4.15434197
9Progressive cerebellar ataxia (HP:0002073)4.12531745
10Mutism (HP:0002300)4.00588129
11Hyperventilation (HP:0002883)3.98299024
12Absence seizures (HP:0002121)3.95529355
13Ulnar bowing (HP:0003031)3.91397201
14Diplopia (HP:0000651)3.90622070
15Abnormality of binocular vision (HP:0011514)3.90622070
16Supranuclear gaze palsy (HP:0000605)3.90323151
17Generalized tonic-clonic seizures (HP:0002069)3.68692214
18Premature rupture of membranes (HP:0001788)3.67563633
19Dialeptic seizures (HP:0011146)3.63448710
20Broad distal phalanx of finger (HP:0009836)3.53996086
21Cerebral inclusion bodies (HP:0100314)3.45320798
22Impaired social interactions (HP:0000735)3.28798477
23Abnormal social behavior (HP:0012433)3.28798477
24Protrusio acetabuli (HP:0003179)3.26884591
25Ankle clonus (HP:0011448)3.19751681
26Truncal ataxia (HP:0002078)3.19743181
27Broad-based gait (HP:0002136)3.11864717
28Neurofibrillary tangles (HP:0002185)3.10288574
29Drooling (HP:0002307)3.06766379
30Excessive salivation (HP:0003781)3.06766379
31Double outlet right ventricle (HP:0001719)3.04875562
32Congenital malformation of the right heart (HP:0011723)3.04875562
33Amblyopia (HP:0000646)2.99494026
34Impaired vibration sensation in the lower limbs (HP:0002166)2.97774013
35Poor eye contact (HP:0000817)2.94013105
36Depression (HP:0000716)2.92832225
37Dysdiadochokinesis (HP:0002075)2.92200625
38Abnormality of the phalanges of the hallux (HP:0010057)2.87246920
39Postural instability (HP:0002172)2.86931199
40Hemiparesis (HP:0001269)2.86479312
41Absent speech (HP:0001344)2.80469601
42Papilledema (HP:0001085)2.75867948
43Inability to walk (HP:0002540)2.74528939
44Truncus arteriosus (HP:0001660)2.73451529
45Breast hypoplasia (HP:0003187)2.73265263
46Testicular atrophy (HP:0000029)2.71481882
47Abnormal ventriculo-arterial connection (HP:0011563)2.71376070
48Transposition of the great arteries (HP:0001669)2.71376070
49Abnormal connection of the cardiac segments (HP:0011545)2.71376070
50Partial duplication of thumb phalanx (HP:0009944)2.71216168
51Hyperacusis (HP:0010780)2.70753662
52Gaze-evoked nystagmus (HP:0000640)2.70384367
53Partial duplication of the phalanx of hand (HP:0009999)2.70140956
54Genu recurvatum (HP:0002816)2.68810000
55Aplasia/Hypoplasia of the sacrum (HP:0008517)2.68587305
56Amyotrophic lateral sclerosis (HP:0007354)2.67557078
57Action tremor (HP:0002345)2.66568184
58Polyphagia (HP:0002591)2.65475364
59Impaired smooth pursuit (HP:0007772)2.64550626
60Dysmetria (HP:0001310)2.63527065
61Aplasia/Hypoplasia of the patella (HP:0006498)2.62830613
62Abnormal eating behavior (HP:0100738)2.62206878
63Urinary bladder sphincter dysfunction (HP:0002839)2.61876326
64Shallow orbits (HP:0000586)2.58707936
65Abnormality of ocular smooth pursuit (HP:0000617)2.54700370
66Genetic anticipation (HP:0003743)2.54643392
67Abnormality of dentin (HP:0010299)2.54235592
68Ventricular fibrillation (HP:0001663)2.53209406
69Bowing of the arm (HP:0006488)2.49382226
70Bowed forearm bones (HP:0003956)2.49382226
71Premature skin wrinkling (HP:0100678)2.47422032
72Hemiplegia (HP:0002301)2.47225864
73Neuronal loss in central nervous system (HP:0002529)2.45664118
74Abnormal umbilical cord blood vessels (HP:0011403)2.45508813
75Single umbilical artery (HP:0001195)2.45508813
76Abnormality of the fetal cardiovascular system (HP:0010948)2.45508813
77Vaginal fistula (HP:0004320)2.45390956
78Abnormality of the aortic arch (HP:0012303)2.42666502
79Abnormality of the lower motor neuron (HP:0002366)2.42461539
80EEG with generalized epileptiform discharges (HP:0011198)2.41707096
81Protruding tongue (HP:0010808)2.41130359
82Rectal fistula (HP:0100590)2.40537223
83Rectovaginal fistula (HP:0000143)2.40537223
84Gait imbalance (HP:0002141)2.38421597
85Hypsarrhythmia (HP:0002521)2.38044763
86Generalized myoclonic seizures (HP:0002123)2.37792299
87Epileptiform EEG discharges (HP:0011182)2.37611039
88Spastic gait (HP:0002064)2.36737936
89Bradykinesia (HP:0002067)2.35250951
90Patellar aplasia (HP:0006443)2.33754404
91Anxiety (HP:0000739)2.30252255
92Turricephaly (HP:0000262)2.29929645
93Status epilepticus (HP:0002133)2.29245776
94Bladder diverticulum (HP:0000015)2.26174404
95Urinary urgency (HP:0000012)2.24983030
96Insidious onset (HP:0003587)2.22840938
97Termporal pattern (HP:0011008)2.22840938
98Biconcave vertebral bodies (HP:0004586)2.21185916
99Failure to thrive in infancy (HP:0001531)2.19353514
100Gait ataxia (HP:0002066)2.18905414
101Microretrognathia (HP:0000308)2.18862958
102Intestinal fistula (HP:0100819)2.18402261
103Coronal craniosynostosis (HP:0004440)2.16959303
104Rectal prolapse (HP:0002035)2.16713360
105Renal duplication (HP:0000075)2.13239589
106Annular pancreas (HP:0001734)2.12913365
107Abnormal hair whorl (HP:0010721)2.11282838
108Specific learning disability (HP:0001328)2.11215694
109Deviation of the hallux (HP:0010051)2.11029886
110Abnormality of the umbilical cord (HP:0010881)2.11014093
111Inappropriate behavior (HP:0000719)2.10196689
112Birth length less than 3rd percentile (HP:0003561)2.10091789
113Stereotypic behavior (HP:0000733)2.07935289
114Abnormality of saccadic eye movements (HP:0000570)2.07858342
115Lissencephaly (HP:0001339)2.07455859
116Large eyes (HP:0001090)2.05679922
117Delusions (HP:0000746)2.05328988
118Megalencephaly (HP:0001355)2.05321749
119Hypoplastic left heart (HP:0004383)2.04851359
120Spastic tetraplegia (HP:0002510)2.04609149
121Soft skin (HP:0000977)2.02984615
122Reticulocytopenia (HP:0001896)2.02596856
123Limb dystonia (HP:0002451)2.02261812
124Duplication of thumb phalanx (HP:0009942)2.01825420
125Intellectual disability, severe (HP:0010864)2.01649176
126Aplasia/Hypoplasia of the brainstem (HP:0007362)2.01293643
127Hypoplasia of the brainstem (HP:0002365)2.01293643
128Akinesia (HP:0002304)1.98605694
129Patellar dislocation (HP:0002999)1.98228045
130Unilateral renal agenesis (HP:0000122)1.98202297
131Impaired vibratory sensation (HP:0002495)1.96871154
132Neuroendocrine neoplasm (HP:0100634)1.95949966
133Carpal synostosis (HP:0009702)1.94550534
134Stridor (HP:0010307)1.94317713
135Abnormality of salivation (HP:0100755)1.93816469
136Obstructive sleep apnea (HP:0002870)1.92163935
137Hallux valgus (HP:0001822)1.91768073
138Poor suck (HP:0002033)1.91178504
139Focal dystonia (HP:0004373)1.91143027
140Intention tremor (HP:0002080)1.90980762
141Pointed chin (HP:0000307)1.90913451
142Apathy (HP:0000741)1.89750400
143Ankle contracture (HP:0006466)1.89722217
144Hypoplastic heart (HP:0001961)1.89707828
145Overriding aorta (HP:0002623)1.89314977
146Abnormality of the corticospinal tract (HP:0002492)1.88365887
147Preauricular pit (HP:0004467)1.88356445
148Periauricular skin pits (HP:0100277)1.88356445
149Insomnia (HP:0100785)1.88264038
150Slender long bone (HP:0003100)1.87675622
151Lower limb muscle weakness (HP:0007340)1.86915521
152Thin ribs (HP:0000883)1.85817757
153Deformed tarsal bones (HP:0008119)1.85607790
154Limb ataxia (HP:0002070)1.84617980
155Abnormality of the distal phalanx of the thumb (HP:0009617)1.84215030
156Flat cornea (HP:0007720)1.84213783
157Abnormal number of incisors (HP:0011064)1.83536045
158Neoplasm of the peripheral nervous system (HP:0100007)1.83325805
159Fetal akinesia sequence (HP:0001989)1.83051662
160Vertebral compression fractures (HP:0002953)1.82952466
161Generalized hypotonia (HP:0001290)1.82275246
162Torticollis (HP:0000473)1.81610401
163Narrow nasal bridge (HP:0000446)1.80769573
164Congenital primary aphakia (HP:0007707)1.80284478
165Retinal dysplasia (HP:0007973)1.79845738
166Elbow flexion contracture (HP:0002987)1.78706725
167Hyperthyroidism (HP:0000836)1.78612690
168Abnormality of cells of the erythroid lineage (HP:0012130)1.78085405
169Redundant skin (HP:0001582)1.78068427
170Achilles tendon contracture (HP:0001771)1.74028561
171Elfin facies (HP:0004428)1.73836597
172Optic nerve coloboma (HP:0000588)1.73606320
173Spinal rigidity (HP:0003306)1.73328885
174Squamous cell carcinoma (HP:0002860)1.72816043
175Atelectasis (HP:0100750)1.70850167
176Disproportionate tall stature (HP:0001519)1.69412859
177Astrocytoma (HP:0009592)1.69156418
178Abnormality of the astrocytes (HP:0100707)1.69156418
179Renal dysplasia (HP:0000110)1.68593314
180Abnormality of the middle phalanges of the toes (HP:0010183)1.68218771
181Myopathic facies (HP:0002058)1.67402077
182Long palpebral fissure (HP:0000637)1.66759860
183Synostosis involving bones of the hand (HP:0004278)1.66757442
184Broad phalanges of the hand (HP:0009768)1.63944995
185Selective tooth agenesis (HP:0001592)1.63775361
186Abnormal number of erythroid precursors (HP:0012131)1.63221939
187Hyperextensible skin (HP:0000974)1.62936416
188Hypoplasia of the radius (HP:0002984)1.61459788
189Bowel diverticulosis (HP:0005222)1.59132354
190Arnold-Chiari malformation (HP:0002308)1.58732264
191Broad thumb (HP:0011304)1.57666087
192Pulmonary artery stenosis (HP:0004415)1.57562944
193Absent radius (HP:0003974)1.55270859
194Short 5th finger (HP:0009237)1.53606076
195Distal upper limb amyotrophy (HP:0007149)1.53526854

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.37865369
2MARK14.25150566
3MAP3K93.76977064
4MAP3K43.72232061
5EPHA43.48486628
6TRIB33.21235047
7SMG13.14060918
8NME23.10742087
9EEF2K2.99936306
10MAP2K72.92690796
11NTRK22.73523237
12MINK12.66444861
13PNCK2.33478893
14BUB12.30152232
15PAK62.20419544
16DAPK22.19109827
17MAP3K122.14391786
18SIK22.09852508
19MAP2K42.04805766
20NTRK12.04258907
21CASK2.02965701
22VRK21.89957071
23PRKD31.81826526
24MAP3K101.81564487
25CDK121.81520187
26PAK41.75503477
27BRAF1.72211003
28BCKDK1.71420196
29TYRO31.67116408
30IRAK31.65732086
31FES1.64048142
32PIM21.60881974
33CDK51.60791165
34CAMKK11.58904907
35LATS21.49076918
36DAPK11.46532095
37UHMK11.44124558
38LIMK11.43489301
39GRK51.41454996
40KSR21.40198609
41RIPK41.39671606
42AURKA1.39121746
43MAP3K111.36579355
44TAOK21.36367501
45PLK21.35546763
46ALK1.33982651
47SRPK11.32816432
48MAPK131.30186738
49DYRK31.28884732
50KSR11.27085030
51CSNK1A1L1.25924589
52SCYL21.19221060
53TNIK1.17855574
54STK161.16373613
55CAMK1D1.16074236
56CHEK21.14824701
57PRKCG1.14496509
58TESK11.12451680
59ERBB41.10770894
60CDC71.10083948
61MAPK151.06449863
62STK381.06245543
63IRAK21.04660151
64TESK21.03908911
65DMPK1.03575231
66CDK71.01176541
67MAP3K80.97998976
68SIK10.96323276
69TTK0.95523617
70ILK0.92716960
71CDK40.92288377
72PKN20.92259353
73PHKG10.91926860
74PHKG20.91926860
75PRKCH0.90349018
76GRK60.89418485
77MTOR0.88248714
78CDK140.87452623
79CDK150.86823987
80CDK180.86769247
81MAP3K60.86463101
82DYRK1B0.85491419
83AKT20.84216041
84PTK20.81702379
85CAMK1G0.81291420
86CAMK2A0.80036527
87KDR0.79425884
88PAK30.79415573
89CSNK1G10.77797729
90DYRK1A0.77796495
91CSNK1G20.76617968
92PAK10.76308928
93CDK11A0.75692621
94MARK20.75311833
95PDGFRA0.75309924
96CAMK10.74416008
97PRPF4B0.74193004
98PTK2B0.73984510
99CHEK10.73975304
100ATR0.73168891
101ABL20.73117483
102STK110.72471090
103RET0.70846361
104STK40.68821203
105PRKD20.68768218
106NME10.67729119
107SGK4940.67081261
108SGK2230.67081261
109PKN10.65603038
110ROCK20.64580804
111MOS0.62788832
112MAP3K20.62159599
113AURKB0.62091505
114CDK190.61550389
115PAK20.60829524
116CAMKK20.60479952
117SGK30.59706568
118CDK20.59150715
119PLK40.58815901
120TAOK10.57590324
121CDK90.57377391
122TRIM280.56595541
123RPS6KC10.56089755
124RPS6KL10.56089755
125PLK10.56027295
126SGK20.55323707
127BMX0.54928127
128TTN0.54915527
129FGR0.53976692
130SGK10.53214565
131NEK10.52940862
132LRRK20.51752091
133CAMK2G0.51326673
134PRKCZ0.51313429
135LMTK20.49898699
136NEK20.49500723
137CDK10.48751929
138FYN0.48484390
139EPHB20.48121365
140ICK0.46740129
141PRKG20.46632199
142MAPK100.46338969
143RPS6KA30.45643348
144RAF10.45015280
145CCNB10.44880124
146RPS6KA60.44692419
147CAMK2B0.43632556
148DYRK20.43603653
149PDK10.42775970
150RPS6KA20.42086287
151PRKCE0.41900315
152PRKCB0.40726956
153SIK30.38755714
154DAPK30.38375050
155WNK30.36805438
156MAP3K130.36767114
157CDK80.36717325
158MAPK120.36506158
159MAPK80.33143238
160ARAF0.32803997
161FGFR20.31952270
162CSNK1G30.31418844
163CAMK40.30807050
164PINK10.30742075
165MAPK90.30264226
166PDPK10.30175175
167BRSK10.30007153
168MAP3K10.29880948
169CDC42BPA0.28763060

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur relay system_Homo sapiens_hsa041224.33185666
2Synaptic vesicle cycle_Homo sapiens_hsa047214.00616783
3Nicotine addiction_Homo sapiens_hsa050333.67436378
4Ribosome_Homo sapiens_hsa030102.98263341
5GABAergic synapse_Homo sapiens_hsa047272.91011555
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.70799862
7Cyanoamino acid metabolism_Homo sapiens_hsa004602.61432609
8Morphine addiction_Homo sapiens_hsa050322.46346059
9Glutamatergic synapse_Homo sapiens_hsa047242.38614230
10Olfactory transduction_Homo sapiens_hsa047402.37628110
11Long-term potentiation_Homo sapiens_hsa047202.36088976
12Circadian entrainment_Homo sapiens_hsa047132.35362905
13DNA replication_Homo sapiens_hsa030302.25321014
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.24511962
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.18073810
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.14105217
17Collecting duct acid secretion_Homo sapiens_hsa049662.10341861
18Base excision repair_Homo sapiens_hsa034102.05179375
19Dopaminergic synapse_Homo sapiens_hsa047282.00794949
20Amphetamine addiction_Homo sapiens_hsa050312.00264575
21Vitamin B6 metabolism_Homo sapiens_hsa007501.99431391
22Biosynthesis of amino acids_Homo sapiens_hsa012301.97863544
23Cholinergic synapse_Homo sapiens_hsa047251.90433011
24Salivary secretion_Homo sapiens_hsa049701.86891906
25Insulin secretion_Homo sapiens_hsa049111.80156118
262-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.77750360
27Serotonergic synapse_Homo sapiens_hsa047261.76842469
28Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.73376767
29Taste transduction_Homo sapiens_hsa047421.71683002
30Gastric acid secretion_Homo sapiens_hsa049711.68205980
31Basal cell carcinoma_Homo sapiens_hsa052171.66285819
32Pyrimidine metabolism_Homo sapiens_hsa002401.62466407
33Aldosterone synthesis and secretion_Homo sapiens_hsa049251.61231409
34Long-term depression_Homo sapiens_hsa047301.60298188
35Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.60272137
36Oxytocin signaling pathway_Homo sapiens_hsa049211.57680213
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.55683376
38Mismatch repair_Homo sapiens_hsa034301.55495940
39Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.47041764
40Hedgehog signaling pathway_Homo sapiens_hsa043401.45740231
41Spliceosome_Homo sapiens_hsa030401.35332282
42Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.35256446
43Calcium signaling pathway_Homo sapiens_hsa040201.35115653
44Type I diabetes mellitus_Homo sapiens_hsa049401.34841480
45Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33101883
46RNA polymerase_Homo sapiens_hsa030201.31959984
47Bladder cancer_Homo sapiens_hsa052191.31850033
48GnRH signaling pathway_Homo sapiens_hsa049121.31466190
49Hippo signaling pathway_Homo sapiens_hsa043901.30425751
50Glioma_Homo sapiens_hsa052141.26925935
51Cell cycle_Homo sapiens_hsa041101.24747670
52Gap junction_Homo sapiens_hsa045401.23324686
53Renin secretion_Homo sapiens_hsa049241.22881655
54Cocaine addiction_Homo sapiens_hsa050301.22174084
55Type II diabetes mellitus_Homo sapiens_hsa049301.20170239
56Vibrio cholerae infection_Homo sapiens_hsa051101.18601806
57Folate biosynthesis_Homo sapiens_hsa007901.18303602
58Estrogen signaling pathway_Homo sapiens_hsa049151.17863752
59Axon guidance_Homo sapiens_hsa043601.17825952
60ErbB signaling pathway_Homo sapiens_hsa040121.15417758
61Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.14045840
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.12835840
63Basal transcription factors_Homo sapiens_hsa030221.12293108
64Central carbon metabolism in cancer_Homo sapiens_hsa052301.12094182
65Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.12081127
66Huntingtons disease_Homo sapiens_hsa050161.10409279
67Cardiac muscle contraction_Homo sapiens_hsa042601.09877979
68RNA transport_Homo sapiens_hsa030131.09023303
69Phosphatidylinositol signaling system_Homo sapiens_hsa040701.06369864
70cAMP signaling pathway_Homo sapiens_hsa040241.03990336
71Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.03103826
72Nucleotide excision repair_Homo sapiens_hsa034201.02295545
73Notch signaling pathway_Homo sapiens_hsa043301.00444172
74Fructose and mannose metabolism_Homo sapiens_hsa000511.00406130
75Arginine and proline metabolism_Homo sapiens_hsa003301.00253572
76One carbon pool by folate_Homo sapiens_hsa006700.99386879
77Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.98021358
78Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96522494
79Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.95705221
80Oocyte meiosis_Homo sapiens_hsa041140.95159012
81Galactose metabolism_Homo sapiens_hsa000520.94015955
82Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.92430497
83Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.91646468
84Parkinsons disease_Homo sapiens_hsa050120.90339095
85mRNA surveillance pathway_Homo sapiens_hsa030150.89883155
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.89454448
87Carbon metabolism_Homo sapiens_hsa012000.89414468
88N-Glycan biosynthesis_Homo sapiens_hsa005100.89218503
89Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.89098966
90Pentose phosphate pathway_Homo sapiens_hsa000300.88142613
91Melanogenesis_Homo sapiens_hsa049160.87454073
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.86778361
93Fanconi anemia pathway_Homo sapiens_hsa034600.85923666
94p53 signaling pathway_Homo sapiens_hsa041150.85540961
95Dorso-ventral axis formation_Homo sapiens_hsa043200.83890216
96Phospholipase D signaling pathway_Homo sapiens_hsa040720.83577959
97cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83067457
98Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.83055425
99Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.82869310
100Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.82693739
101Choline metabolism in cancer_Homo sapiens_hsa052310.79336105
102Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76673959
103Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.76234303
104Melanoma_Homo sapiens_hsa052180.75140760
105MAPK signaling pathway_Homo sapiens_hsa040100.72739522
106Selenocompound metabolism_Homo sapiens_hsa004500.72611045
107Prion diseases_Homo sapiens_hsa050200.72595471
108Vascular smooth muscle contraction_Homo sapiens_hsa042700.71369432
109Butanoate metabolism_Homo sapiens_hsa006500.71352566
110Purine metabolism_Homo sapiens_hsa002300.70977912
111Dilated cardiomyopathy_Homo sapiens_hsa054140.70521156
112Glycosaminoglycan degradation_Homo sapiens_hsa005310.69679896
113mTOR signaling pathway_Homo sapiens_hsa041500.69346130
114Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68366671
115Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.67948220
116Neurotrophin signaling pathway_Homo sapiens_hsa047220.66659260
117Homologous recombination_Homo sapiens_hsa034400.66034719
118Renal cell carcinoma_Homo sapiens_hsa052110.65046968
119Endometrial cancer_Homo sapiens_hsa052130.63933896
120Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62049957
121Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.61818059
122Non-small cell lung cancer_Homo sapiens_hsa052230.61141120
123Endocytosis_Homo sapiens_hsa041440.60567087
124AMPK signaling pathway_Homo sapiens_hsa041520.59757599
125VEGF signaling pathway_Homo sapiens_hsa043700.59625772
126Lysine degradation_Homo sapiens_hsa003100.58178117
127Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.56439559
128Ras signaling pathway_Homo sapiens_hsa040140.56307909
129MicroRNAs in cancer_Homo sapiens_hsa052060.56076259
130Pancreatic secretion_Homo sapiens_hsa049720.55895957
131Rap1 signaling pathway_Homo sapiens_hsa040150.55189453
132Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.54999038
133Thyroid hormone synthesis_Homo sapiens_hsa049180.54862334
134Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.54245973
135Colorectal cancer_Homo sapiens_hsa052100.53475661
136Inositol phosphate metabolism_Homo sapiens_hsa005620.52517635
137Chronic myeloid leukemia_Homo sapiens_hsa052200.52093293
138Sulfur metabolism_Homo sapiens_hsa009200.52017613
139Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51239414
140Sphingolipid signaling pathway_Homo sapiens_hsa040710.50644503
141Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.49415472
142Metabolic pathways_Homo sapiens_hsa011000.49269806
143Glutathione metabolism_Homo sapiens_hsa004800.49010547
144Rheumatoid arthritis_Homo sapiens_hsa053230.48861349
145Alcoholism_Homo sapiens_hsa050340.48661666
146Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47368259
147Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.46784776
148Glucagon signaling pathway_Homo sapiens_hsa049220.45814921
149Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45471571
150Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.43900191
151Fatty acid elongation_Homo sapiens_hsa000620.43328829
152Pyruvate metabolism_Homo sapiens_hsa006200.42800671
153Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.39071459
154Alzheimers disease_Homo sapiens_hsa050100.38856615
155Steroid biosynthesis_Homo sapiens_hsa001000.38770423
156Oxidative phosphorylation_Homo sapiens_hsa001900.37890943
157Wnt signaling pathway_Homo sapiens_hsa043100.37697737
158Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37521119
159Sphingolipid metabolism_Homo sapiens_hsa006000.37349726
160Phototransduction_Homo sapiens_hsa047440.37167859
161ECM-receptor interaction_Homo sapiens_hsa045120.37038211
162Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.35673949
163Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35424782
164Insulin signaling pathway_Homo sapiens_hsa049100.35340986
165Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.32352787
166Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.31955327
167Bile secretion_Homo sapiens_hsa049760.31493078
168Chemokine signaling pathway_Homo sapiens_hsa040620.30378777

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