POMT1

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 an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cilium or flagellum-dependent cell motility (GO:0001539)9.67255650
2fusion of sperm to egg plasma membrane (GO:0007342)8.53824064
3presynaptic membrane assembly (GO:0097105)8.29173699
4plasma membrane fusion (GO:0045026)7.64559490
5histone H3-K36 demethylation (GO:0070544)7.62851217
6sperm-egg recognition (GO:0035036)7.54563292
7acrosome assembly (GO:0001675)7.45538799
8cell wall macromolecule metabolic process (GO:0044036)7.40769260
9cell wall macromolecule catabolic process (GO:0016998)7.40769260
10sperm motility (GO:0030317)7.40522292
11histone H3-K9 demethylation (GO:0033169)7.38574184
12regulation of telomere maintenance via telomerase (GO:0032210)7.30870605
13multicellular organism reproduction (GO:0032504)6.89254280
14binding of sperm to zona pellucida (GO:0007339)6.86327601
15piRNA metabolic process (GO:0034587)6.73128985
16cell-cell recognition (GO:0009988)6.72785711
17acrosome reaction (GO:0007340)6.64356587
18motile cilium assembly (GO:0044458)6.55529864
19axonemal dynein complex assembly (GO:0070286)6.50185070
20male meiosis (GO:0007140)6.20083368
21negative regulation of gene silencing (GO:0060969)5.97846918
22spermatid development (GO:0007286)5.88376582
23epithelial cilium movement (GO:0003351)5.68304931
24synaptonemal complex assembly (GO:0007130)5.64495991
25synaptonemal complex organization (GO:0070193)5.61786596
26reproduction (GO:0000003)5.52521845
27regulation of attachment of spindle microtubules to kinetochore (GO:0051988)5.39882049
28maturation of 5.8S rRNA (GO:0000460)5.09693079
29regulation of chromatin silencing (GO:0031935)4.98999234
30epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.90080860
31cilium movement (GO:0003341)4.81698312
32synaptic vesicle exocytosis (GO:0016079)4.58665284
33organic cation transport (GO:0015695)4.55086603
34single fertilization (GO:0007338)4.52267480
35male meiosis I (GO:0007141)4.38399742
36postsynaptic membrane organization (GO:0001941)4.38163727
37microtubule depolymerization (GO:0007019)4.34704217
38establishment of mitochondrion localization (GO:0051654)4.34169299
39regulation of cilium movement (GO:0003352)4.32621094
40chromosome organization involved in meiosis (GO:0070192)4.29515331
41sperm capacitation (GO:0048240)4.24597617
42pyrimidine nucleobase catabolic process (GO:0006208)4.23914647
43cell migration in hindbrain (GO:0021535)4.21728530
44DNA methylation involved in gamete generation (GO:0043046)4.20370330
45synaptic vesicle maturation (GO:0016188)4.17286810
46neuronal ion channel clustering (GO:0045161)4.08334826
47spermatogenesis (GO:0007283)4.05101970
48male gamete generation (GO:0048232)4.03856758
49positive regulation of synapse maturation (GO:0090129)4.01154712
50regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)3.95071276
51negative regulation of synaptic transmission, GABAergic (GO:0032229)3.90311589
52dendritic spine organization (GO:0097061)3.85538561
53fertilization (GO:0009566)3.82529976
54neuron cell-cell adhesion (GO:0007158)3.81924323
55meiotic nuclear division (GO:0007126)3.81769590
56regulation of short-term neuronal synaptic plasticity (GO:0048172)3.79902267
57regulation of synapse structural plasticity (GO:0051823)3.77259299
58RNA destabilization (GO:0050779)3.77098816
59glutamate secretion (GO:0014047)3.76433833
60regulation of telomere maintenance (GO:0032204)3.73057092
61regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.71966583
62establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.70349848
63mitochondrion transport along microtubule (GO:0047497)3.70349848
64meiosis I (GO:0007127)3.65261900
65gamete generation (GO:0007276)3.65117695
66synaptic vesicle docking involved in exocytosis (GO:0016081)3.62897832
67pyrimidine nucleoside salvage (GO:0043097)3.62238837
68pyrimidine-containing compound salvage (GO:0008655)3.62238837
69regulation of synaptic vesicle transport (GO:1902803)3.60688696
70negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.60372785
71positive regulation of gene expression, epigenetic (GO:0045815)3.56210210
72positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.54228048
73regulation of synaptic vesicle exocytosis (GO:2000300)3.53611323
74positive regulation of mitochondrial fission (GO:0090141)3.52477739
75regulation of transcription from RNA polymerase I promoter (GO:0006356)3.51059730
76germ cell development (GO:0007281)3.50057683
77cellular process involved in reproduction in multicellular organism (GO:0022412)3.46206059
78positive regulation of microtubule polymerization (GO:0031116)3.44893140
79axonal fasciculation (GO:0007413)3.44870001
80positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.42722150
81locomotory exploration behavior (GO:0035641)3.39503217
82protein ADP-ribosylation (GO:0006471)3.33274634
83regulation of synapse maturation (GO:0090128)3.30305705
84protein insertion into membrane (GO:0051205)3.29953790
85regulation of ARF GTPase activity (GO:0032312)3.29639985
86protein localization to chromosome (GO:0034502)3.26835027
87regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.26441941
88ventricular system development (GO:0021591)3.26166355
89neuron recognition (GO:0008038)3.25812024
90pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.24873063
91spindle assembly (GO:0051225)3.24744942
92protein polyglutamylation (GO:0018095)3.22622807
93regulation of microtubule-based movement (GO:0060632)3.20617823
94ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043163.20046498
95mitochondrial RNA metabolic process (GO:0000959)3.19200325
96DNA packaging (GO:0006323)3.18758740
97regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)3.16037427
98positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)3.16037427
99regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.14644648
100response to misfolded protein (GO:0051788)3.12746920
101nucleus organization (GO:0006997)3.12491025
102meiotic cell cycle (GO:0051321)3.11041902
103pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.10770919
104nucleobase catabolic process (GO:0046113)3.07305260
105vocalization behavior (GO:0071625)3.03402305
106dendritic spine morphogenesis (GO:0060997)2.99547914
107regulation of meiosis I (GO:0060631)2.98987754
108mitotic spindle organization (GO:0007052)2.98186001
109positive regulation of dendrite morphogenesis (GO:0050775)2.97740981
110synapsis (GO:0007129)2.97515861
111pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)2.95814211
112UMP metabolic process (GO:0046049)2.95814211
113pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)2.95814211
114UMP biosynthetic process (GO:0006222)2.95814211
115calcium ion-dependent exocytosis (GO:0017156)2.94370567
116positive regulation of pseudopodium assembly (GO:0031274)2.94314208
117growth hormone secretion (GO:0030252)2.93807780
118nucleoside salvage (GO:0043174)2.93437915
119synaptic vesicle endocytosis (GO:0048488)2.93324336
120positive regulation of microtubule polymerization or depolymerization (GO:0031112)2.93160408
121ionotropic glutamate receptor signaling pathway (GO:0035235)2.93032277
122positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.93019124
123cell recognition (GO:0008037)2.91716579
124chromosome condensation (GO:0030261)2.91586194
125neuromuscular synaptic transmission (GO:0007274)2.91069215
126protein localization to synapse (GO:0035418)2.89594404
127synaptic transmission, glutamatergic (GO:0035249)2.89531560
128seminiferous tubule development (GO:0072520)2.89340432
129microtubule severing (GO:0051013)2.88956208
130regulation of histone H3-K9 methylation (GO:0051570)2.88820676
131multicellular organismal reproductive process (GO:0048609)2.87149649
132neurotransmitter secretion (GO:0007269)2.85131362
133negative regulation of cell size (GO:0045792)2.85087743
134carnitine transport (GO:0015879)2.84133353
135amino-acid betaine transport (GO:0015838)2.84133353
136negative regulation of inclusion body assembly (GO:0090084)2.82414274
137synapse assembly (GO:0007416)2.81029666
138neurotransmitter-gated ion channel clustering (GO:0072578)2.80815888
139pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.80235666
140retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.77424025
141carnitine transmembrane transport (GO:1902603)2.76654039
142meiotic cell cycle process (GO:1903046)2.76551388
143regulation of gene silencing (GO:0060968)2.76118470
144membrane assembly (GO:0071709)2.74932322
145nuclear pore complex assembly (GO:0051292)2.73648530
146adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.73114209
147pore complex assembly (GO:0046931)2.72124031
148negative regulation of microtubule polymerization (GO:0031115)2.72088024
149gene silencing by RNA (GO:0031047)2.71687550
150regulation of pseudopodium assembly (GO:0031272)2.71316860
151CTP biosynthetic process (GO:0006241)2.71237896
152CTP metabolic process (GO:0046036)2.71237896
153regulation of RIG-I signaling pathway (GO:0039535)2.70838995
154regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.70006235
155cell-cell junction maintenance (GO:0045217)2.65234792
156neuronal action potential propagation (GO:0019227)2.63557621
157regulation of mitochondrial fission (GO:0090140)2.61170045
158axon extension (GO:0048675)2.59219712
159transmission of nerve impulse (GO:0019226)2.58452753
160layer formation in cerebral cortex (GO:0021819)2.57865630
161positive regulation of synapse assembly (GO:0051965)2.56715533
162regulation of autophagic vacuole assembly (GO:2000785)2.56133620
163regulation of respiratory system process (GO:0044065)2.55788163
164membrane depolarization during action potential (GO:0086010)2.53520188
165protein-DNA complex disassembly (GO:0032986)2.52717795
166nucleosome disassembly (GO:0006337)2.52717795
167mitochondrion degradation (GO:0000422)2.52625779
168auditory behavior (GO:0031223)2.52499298
169regulation of glutamate receptor signaling pathway (GO:1900449)2.49564760
170exploration behavior (GO:0035640)2.49369116
171positive regulation of protein kinase C signaling (GO:0090037)2.48934204
172cell junction maintenance (GO:0034331)2.47175700
173regulation of Rab GTPase activity (GO:0032313)2.45942577
174positive regulation of Rab GTPase activity (GO:0032851)2.45942577
175protein retention in ER lumen (GO:0006621)2.45588316
176cranial nerve morphogenesis (GO:0021602)2.45471102
177cellular component maintenance (GO:0043954)2.44817199
178regulation of actin nucleation (GO:0051125)2.43525922
179regulation of cilium assembly (GO:1902017)2.43295359
180urinary tract smooth muscle contraction (GO:0014848)2.42831730
181organelle transport along microtubule (GO:0072384)2.41493498
182dopamine receptor signaling pathway (GO:0007212)2.40305136
183negative regulation of Rho protein signal transduction (GO:0035024)2.39970420
184regulation of ARF protein signal transduction (GO:0032012)2.39400477
185UV protection (GO:0009650)2.39218540
186L-serine transport (GO:0015825)2.37795937
187response to pheromone (GO:0019236)2.37567267
188cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.37093703
189phosphatidylglycerol biosynthetic process (GO:0006655)2.36499454
190coenzyme catabolic process (GO:0009109)2.36236266
191histone H4 deacetylation (GO:0070933)2.33441801
192presynaptic membrane organization (GO:0097090)12.3180908

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse9.45616486
2BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse5.78764613
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.56994854
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.18252446
5FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.76034020
6E2F7_22180533_ChIP-Seq_HELA_Human3.74306128
7NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.20415075
8MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human3.12435410
9CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human3.06334363
10FOXM1_23109430_ChIP-Seq_U2OS_Human2.84008620
11THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.82427949
12EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.78814930
13E2F4_17652178_ChIP-ChIP_JURKAT_Human2.74622031
14EZH2_22144423_ChIP-Seq_EOC_Human2.71974541
15LXR_22292898_ChIP-Seq_THP-1_Human2.43909634
16P68_20966046_ChIP-Seq_HELA_Human2.38099811
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.33425374
18CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.32938210
19MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.31288075
20DROSHA_22980978_ChIP-Seq_HELA_Human2.19767734
21CTCF_27219007_Chip-Seq_Bcells_Human2.19600004
22CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.19500646
23* SMC4_20622854_ChIP-Seq_HELA_Human2.09427482
24EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human2.07906217
25SUZ12_27294783_Chip-Seq_ESCs_Mouse2.04141010
26FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.03540542
27EZH2_27294783_Chip-Seq_ESCs_Mouse2.03371642
28DNAJC2_21179169_ChIP-ChIP_NT2_Human1.99675731
29CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.96216493
30REST_18959480_ChIP-ChIP_MESCs_Mouse1.91578491
31EGR1_23403033_ChIP-Seq_LIVER_Mouse1.91195286
32* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.86973550
33SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.85437714
34ERG_21242973_ChIP-ChIP_JURKAT_Human1.81539281
35BCL6_27268052_Chip-Seq_Bcells_Human1.81305173
36GATA1_26923725_Chip-Seq_HPCs_Mouse1.76191253
37PHF8_20622854_ChIP-Seq_HELA_Human1.74882516
38RARB_27405468_Chip-Seq_BRAIN_Mouse1.74452107
39PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.74236946
40REST_21632747_ChIP-Seq_MESCs_Mouse1.73495426
41JARID2_20075857_ChIP-Seq_MESCs_Mouse1.73208342
42KDM2B_26808549_Chip-Seq_K562_Human1.70346223
43ZFP281_18757296_ChIP-ChIP_E14_Mouse1.70095381
44SA1_27219007_Chip-Seq_ERYTHROID_Human1.67177726
45TAL1_26923725_Chip-Seq_HPCs_Mouse1.61869042
46SRY_22984422_ChIP-ChIP_TESTIS_Rat1.61259524
47SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.61136851
48EZH2_27304074_Chip-Seq_ESCs_Mouse1.59347430
49SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.57750373
50TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56812267
51KDM2B_26808549_Chip-Seq_SUP-B15_Human1.56771712
52KDM2B_26808549_Chip-Seq_DND41_Human1.56536730
53JARID2_20064375_ChIP-Seq_MESCs_Mouse1.55853330
54EED_16625203_ChIP-ChIP_MESCs_Mouse1.55092660
55ELK4_26923725_Chip-Seq_MESODERM_Mouse1.54392654
56* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.54161122
57* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.53203564
58EZH2_18974828_ChIP-Seq_MESCs_Mouse1.51763558
59RNF2_18974828_ChIP-Seq_MESCs_Mouse1.51763558
60BCOR_27268052_Chip-Seq_Bcells_Human1.51262791
61E2F1_20622854_ChIP-Seq_HELA_Human1.51194476
62TET1_21490601_ChIP-Seq_MESCs_Mouse1.48741082
63KAP1_22055183_ChIP-Seq_ESCs_Mouse1.48279816
64CTCF_20526341_ChIP-Seq_ESCs_Human1.47199115
65OCT4_19829295_ChIP-Seq_ESCs_Human1.46881868
66IKZF1_21737484_ChIP-ChIP_HCT116_Human1.44627150
67PCGF2_27294783_Chip-Seq_ESCs_Mouse1.43778770
68GATA3_21867929_ChIP-Seq_CD8_Mouse1.41433872
69ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.40651202
70EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.40423984
71MTF2_20144788_ChIP-Seq_MESCs_Mouse1.38502595
72RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.37469896
73SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.36465336
74CTCF_27219007_Chip-Seq_ERYTHROID_Human1.35550801
75KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.34548195
76RNF2_27304074_Chip-Seq_ESCs_Mouse1.34248973
77WDR5_24793694_ChIP-Seq_LNCAP_Human1.32991193
78SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.32559551
79CREB1_26743006_Chip-Seq_LNCaP_Human1.32084355
80RUNX1_26923725_Chip-Seq_HPCs_Mouse1.31486590
81RXRA_24833708_ChIP-Seq_LIVER_Mouse1.31317429
82NFE2_27457419_Chip-Seq_LIVER_Mouse1.29811906
83FLI1_27457419_Chip-Seq_LIVER_Mouse1.29561919
84ERA_21632823_ChIP-Seq_H3396_Human1.28118340
85SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.27947857
86RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.26720759
87NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.26634336
88FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26150995
89TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.26060100
90OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.25830204
91PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24128101
92RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.23916406
93PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.22553941
94RARB_24833708_ChIP-Seq_LIVER_Mouse1.22386865
95SA1_27219007_Chip-Seq_Bcells_Human1.22299080
96CBP_20019798_ChIP-Seq_JUKART_Human1.21543387
97IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.21543387
98* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.21453397
99UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.21344563
100ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.19982016
101TP53_20018659_ChIP-ChIP_R1E_Mouse1.19473536
102TP53_22127205_ChIP-Seq_IMR90_Human1.19303260
103TP63_22573176_ChIP-Seq_HFKS_Human1.19275926
104FOXP1_21924763_ChIP-Seq_HESCs_Human1.19215511
105VDR_21846776_ChIP-Seq_THP-1_Human1.18542012
106ELK3_25401928_ChIP-Seq_HUVEC_Human1.18289428
107SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.17851523
108ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.16624145
109SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.16572646
110CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.16531830
111ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.14996168
112GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.14827190
113AR_21909140_ChIP-Seq_LNCAP_Human1.14699384
114SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.13910504
115RARG_19884340_ChIP-ChIP_MEFs_Mouse1.13366485
116DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.12811697
117SCL_19346495_ChIP-Seq_HPC-7_Human1.11838518
118SOX2_22085726_ChIP-Seq_NPCs_Mouse1.10832802
119HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.10094823
120* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.08153131
121RACK7_27058665_Chip-Seq_MCF-7_Human1.08000585
122PPARA_22158963_ChIP-Seq_LIVER_Mouse1.07267707
123RARA_24833708_ChIP-Seq_LIVER_Mouse1.07061007
124E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.06569418
125TP53_23651856_ChIP-Seq_MEFs_Mouse1.06464453
126OCT4_20526341_ChIP-Seq_ESCs_Human1.06442445
127ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.06314900
128KLF4_19829295_ChIP-Seq_ESCs_Human1.06126107
129SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.05759429
130EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.05068907
131TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03987297
132POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03987297
133SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.03851541
134RAD21_21589869_ChIP-Seq_MESCs_Mouse1.03014240
135* KDM2B_26808549_Chip-Seq_JURKAT_Human1.02329762
136SUZ12_27294783_Chip-Seq_NPCs_Mouse1.02043681
137* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.01637764
138E2F1_21310950_ChIP-Seq_MCF-7_Human1.01586181
139EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.00256667
140POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.99931607
141CTCF_21964334_ChIP-Seq_BJAB-B_Human0.99827578
142* OCT4_18555785_Chip-Seq_ESCs_Mouse0.99048109
143P53_21459846_ChIP-Seq_SAOS-2_Human0.98248071
144GF1_26923725_Chip-Seq_HPCs_Mouse0.96910955
145* SPI1_26923725_Chip-Seq_HPCs_Mouse0.96409184
146LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.95980120
147* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.94051977
148EZH2_27294783_Chip-Seq_NPCs_Mouse0.93756384
149RAC3_21632823_ChIP-Seq_H3396_Human0.92933376
150* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91041399
151ESET_19884257_ChIP-Seq_ESCs_Mouse0.90489749
152GBX2_23144817_ChIP-Seq_PC3_Human0.89730016
153NFYB_21822215_ChIP-Seq_K562_Human0.89104114
154TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.87484268
155* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.87350963
156* ESRRB_18555785_Chip-Seq_ESCs_Mouse0.85804223
157YY1_21170310_ChIP-Seq_MESCs_Mouse0.85743407
158TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.85716715
159KDM2B_26808549_Chip-Seq_REH_Human0.84284453
160GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.83624877
161FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.83339438
162* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83214382
163* MYC_18358816_ChIP-ChIP_MESCs_Mouse0.82946245
164P300_18555785_Chip-Seq_ESCs_Mouse0.82815252
165MYCN_18555785_ChIP-Seq_MESCs_Mouse0.82623061
166CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.82386612
167PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.82059806
168* FOXP3_21729870_ChIP-Seq_TREG_Human0.81393738
169GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.81232849
170CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.80421311
171CRX_20693478_ChIP-Seq_RETINA_Mouse0.80345168
172LXR_22158963_ChIP-Seq_LIVER_Mouse0.80248044
173* KLF4_18555785_Chip-Seq_ESCs_Mouse0.80228081
174STAT1_17558387_ChIP-Seq_HELA_Human0.80207917
175RXR_22158963_ChIP-Seq_LIVER_Mouse0.79947250
176KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.79010933
177TET1_21451524_ChIP-Seq_MESCs_Mouse0.78973499
178SPI1_20517297_ChIP-Seq_HL60_Human0.77889304
179* NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.76304673
180SOX9_26525672_Chip-Seq_HEART_Mouse0.75124674
181EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.74931555
182ELF1_20517297_ChIP-Seq_JURKAT_Human0.74871565
183YY1_22570637_ChIP-Seq_MALME-3M_Human0.74084138
184TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.73286642
185LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.72571802
186FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.72271141
187TP63_19390658_ChIP-ChIP_HaCaT_Human0.71146031
188NANOG_18555785_Chip-Seq_ESCs_Mouse0.70990747

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization7.92870733
2MP0004859_abnormal_synaptic_plasticity4.66781037
3MP0003303_peritoneal_inflammation4.40765193
4MP0008995_early_reproductive_senescence3.73676292
5MP0003880_abnormal_central_pattern3.64883359
6MP0009379_abnormal_foot_pigmentation3.59102733
7MP0005171_absent_coat_pigmentation3.43869879
8MP0003698_abnormal_male_reproductive3.43051562
9MP0005248_abnormal_Harderian_gland3.41493385
10MP0001929_abnormal_gametogenesis3.29410291
11MP0005423_abnormal_somatic_nervous3.17086942
12MP0010352_gastrointestinal_tract_polyps2.97349935
13MP0004270_analgesia2.96927715
14MP0002396_abnormal_hematopoietic_system2.96487889
15MP0004147_increased_porphyrin_level2.69901667
16MP0002210_abnormal_sex_determination2.67620664
17MP0003635_abnormal_synaptic_transmissio2.67522919
18MP0004130_abnormal_muscle_cell2.58994053
19MP0002822_catalepsy2.58195683
20MP0008058_abnormal_DNA_repair2.53207887
21MP0005670_abnormal_white_adipose2.51558635
22MP0008877_abnormal_DNA_methylation2.50613706
23MP0001188_hyperpigmentation2.35420227
24MP0001984_abnormal_olfaction2.30439217
25MP0000015_abnormal_ear_pigmentation2.30111682
26MP0001968_abnormal_touch/_nociception2.24671404
27MP0003868_abnormal_feces_composition2.23705427
28MP0001145_abnormal_male_reproductive2.18857588
29MP0001529_abnormal_vocalization2.16463407
30MP0003111_abnormal_nucleus_morphology2.16206496
31MP0009840_abnormal_foam_cell2.14890775
32MP0002063_abnormal_learning/memory/cond2.10194924
33MP0000778_abnormal_nervous_system2.09774794
34MP0002653_abnormal_ependyma_morphology2.07924665
35MP0002064_seizures2.02816566
36MP0002139_abnormal_hepatobiliary_system2.01612328
37MP0005394_taste/olfaction_phenotype1.96767096
38MP0005499_abnormal_olfactory_system1.96767096
39MP0003136_yellow_coat_color1.94388423
40MP0009278_abnormal_bone_marrow1.94083763
41MP0002572_abnormal_emotion/affect_behav1.93403005
42MP0000653_abnormal_sex_gland1.92814152
43MP0000465_gastrointestinal_hemorrhage1.92276669
44MP0005360_urolithiasis1.90508104
45MP0003329_amyloid_beta_deposits1.83933074
46MP0006292_abnormal_olfactory_placode1.83083053
47MP0003786_premature_aging1.80687530
48MP0009745_abnormal_behavioral_response1.79320417
49MP0001502_abnormal_circadian_rhythm1.78879451
50MP0000751_myopathy1.78665342
51MP0005058_abnormal_lysosome_morphology1.73834335
52MP0000955_abnormal_spinal_cord1.72012806
53MP0004134_abnormal_chest_morphology1.70513951
54MP0010094_abnormal_chromosome_stability1.70284620
55MP0003300_gastrointestinal_ulcer1.70249711
56MP0001486_abnormal_startle_reflex1.69883580
57MP0002161_abnormal_fertility/fecundity1.68257228
58MP0002734_abnormal_mechanical_nocicepti1.67618219
59MP0002272_abnormal_nervous_system1.66951019
60MP0003806_abnormal_nucleotide_metabolis1.64988030
61MP0002249_abnormal_larynx_morphology1.64798805
62MP0006276_abnormal_autonomic_nervous1.64041738
63MP0004811_abnormal_neuron_physiology1.57972913
64MP0003122_maternal_imprinting1.57179161
65MP0002095_abnormal_skin_pigmentation1.56541870
66MP0008057_abnormal_DNA_replication1.55974112
67MP0002160_abnormal_reproductive_system1.55872869
68MP0000462_abnormal_digestive_system1.54979731
69MP0009046_muscle_twitch1.53470460
70MP0002735_abnormal_chemical_nociception1.53386162
71MP0002557_abnormal_social/conspecific_i1.51273357
72MP0005365_abnormal_bile_salt1.47501966
73MP0002882_abnormal_neuron_morphology1.47464000
74MP0003787_abnormal_imprinting1.42923946
75MP0005167_abnormal_blood-brain_barrier1.39339225
76MP0005397_hematopoietic_system_phenotyp1.38902459
77MP0001545_abnormal_hematopoietic_system1.38902459
78MP0003879_abnormal_hair_cell1.35487169
79MP0002184_abnormal_innervation1.34672593
80MP0002736_abnormal_nociception_after1.34193554
81MP0001293_anophthalmia1.33502471
82MP0002067_abnormal_sensory_capabilities1.31146418
83MP0008789_abnormal_olfactory_epithelium1.31076469
84MP0003172_abnormal_lysosome_physiology1.30461015
85MP0001970_abnormal_pain_threshold1.28228196
86MP0005647_abnormal_sex_gland1.28026369
87MP0005085_abnormal_gallbladder_physiolo1.27452348
88MP0001873_stomach_inflammation1.26944820
89MP0000490_abnormal_crypts_of1.26293902
90MP0005377_hearing/vestibular/ear_phenot1.24637814
91MP0003878_abnormal_ear_physiology1.24637814
92MP0009384_cardiac_valve_regurgitation1.21912959
93MP0002938_white_spotting1.14295640
94MP0002102_abnormal_ear_morphology1.14190530
95MP0001986_abnormal_taste_sensitivity1.14164070
96MP0002733_abnormal_thermal_nociception1.14043853
97MP0005389_reproductive_system_phenotype1.13486544
98MP0002152_abnormal_brain_morphology1.13320415
99MP0002132_abnormal_respiratory_system1.12425279
100MP0001348_abnormal_lacrimal_gland1.12307963
101MP0001299_abnormal_eye_distance/1.12268265
102MP0001270_distended_abdomen1.09797930
103MP0000013_abnormal_adipose_tissue1.09712571
104MP0002066_abnormal_motor_capabilities/c1.08557598
105MP0000026_abnormal_inner_ear1.07858643
106MP0004742_abnormal_vestibular_system1.06848897
107MP0003634_abnormal_glial_cell1.05880313
108MP0001905_abnormal_dopamine_level1.05281539
109MP0005187_abnormal_penis_morphology1.05260101
110MP0000749_muscle_degeneration1.04236886
111MP0008007_abnormal_cellular_replicative1.03432672
112MP0008569_lethality_at_weaning1.02935898
113MP0000569_abnormal_digit_pigmentation1.02893811
114MP0000049_abnormal_middle_ear1.02824785
115MP0003119_abnormal_digestive_system1.00820712
116MP0002752_abnormal_somatic_nervous1.00263999
117MP0002229_neurodegeneration0.99987794
118MP0004133_heterotaxia0.99214375
119MP0001963_abnormal_hearing_physiology0.96602249
120MP0002234_abnormal_pharynx_morphology0.95516981
121MP0005386_behavior/neurological_phenoty0.95485231
122MP0004924_abnormal_behavior0.95485231
123MP0001501_abnormal_sleep_pattern0.94500089
124MP0000371_diluted_coat_color0.94492589
125MP0001919_abnormal_reproductive_system0.92879464
126MP0000372_irregular_coat_pigmentation0.91738779
127MP0003077_abnormal_cell_cycle0.91041421
128MP0003137_abnormal_impulse_conducting0.89057660
129MP0003861_abnormal_nervous_system0.88744378
130MP0005174_abnormal_tail_pigmentation0.88619852
131MP0002069_abnormal_eating/drinking_beha0.87541731
132MP0001663_abnormal_digestive_system0.87463546
133MP0003385_abnormal_body_wall0.81907740
134MP0003646_muscle_fatigue0.80883715
135MP0010030_abnormal_orbit_morphology0.80354963
136MP0001764_abnormal_homeostasis0.80316674
137MP0005646_abnormal_pituitary_gland0.79012905
138MP0000003_abnormal_adipose_tissue0.78140972
139MP0005408_hypopigmentation0.77862534
140MP0005623_abnormal_meninges_morphology0.77312109
141MP0000537_abnormal_urethra_morphology0.77133966
142MP0004142_abnormal_muscle_tone0.76746183
143MP0003631_nervous_system_phenotype0.76154026
144MP0003656_abnormal_erythrocyte_physiolo0.75063631
145MP0000750_abnormal_muscle_regeneration0.74415965
146MP0000681_abnormal_thyroid_gland0.73821775
147MP0003632_abnormal_nervous_system0.73511266
148MP0000639_abnormal_adrenal_gland0.72333852
149MP0000470_abnormal_stomach_morphology0.71969927
150MP0000920_abnormal_myelination0.71528228
151MP0000759_abnormal_skeletal_muscle0.71465387
152MP0002098_abnormal_vibrissa_morphology0.68308919
153MP0001119_abnormal_female_reproductive0.68224903
154MP0008875_abnormal_xenobiotic_pharmacok0.68212198
155MP0000613_abnormal_salivary_gland0.67909860
156MP0003890_abnormal_embryonic-extraembry0.67859138
157MP0003633_abnormal_nervous_system0.67127202
158MP0003938_abnormal_ear_development0.67112035
159MP0003115_abnormal_respiratory_system0.67097180
160MP0001346_abnormal_lacrimal_gland0.66957905
161MP0004197_abnormal_fetal_growth/weight/0.65861281
162MP0002118_abnormal_lipid_homeostasis0.65760395
163MP0001849_ear_inflammation0.65729515
164MP0000678_abnormal_parathyroid_gland0.65636838
165MP0005075_abnormal_melanosome_morpholog0.65164789
166MP0003693_abnormal_embryo_hatching0.64352651
167MP0002075_abnormal_coat/hair_pigmentati0.60278618
168MP0002138_abnormal_hepatobiliary_system0.58753872
169MP0005381_digestive/alimentary_phenotyp0.57206157
170MP0009697_abnormal_copulation0.57035400
171MP0003011_delayed_dark_adaptation0.56169792
172MP0001324_abnormal_eye_pigmentation0.55986447
173MP0005666_abnormal_adipose_tissue0.55664663
174MP0005409_darkened_coat_color0.55178990
175MP0004264_abnormal_extraembryonic_tissu0.55027220
176MP0002177_abnormal_outer_ear0.54892528
177MP0010329_abnormal_lipoprotein_level0.53291430
178MP0005334_abnormal_fat_pad0.52602791
179MP0001243_abnormal_dermal_layer0.52047920
180MP0003252_abnormal_bile_duct0.50889860
181MP0006036_abnormal_mitochondrial_physio0.50225080
182MP0002282_abnormal_trachea_morphology0.49682795
183MP0010307_abnormal_tumor_latency0.48419913
184MP0000747_muscle_weakness0.47835240
185MP0002971_abnormal_brown_adipose0.47752845
186MP0002092_abnormal_eye_morphology0.47024933
187MP0004019_abnormal_vitamin_homeostasis0.46876914
188MP0000313_abnormal_cell_death0.45057054

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)8.96526678
2Dynein arm defect of respiratory motile cilia (HP:0012255)7.54821093
3Absent/shortened dynein arms (HP:0200106)7.54821093
4Abnormal respiratory motile cilium physiology (HP:0012261)5.63206006
5Neoplasm of the adrenal cortex (HP:0100641)5.27093495
6Epidermoid cyst (HP:0200040)5.22995899
7Rhinitis (HP:0012384)5.21093881
8Abnormal respiratory epithelium morphology (HP:0012253)5.08695689
9Abnormal respiratory motile cilium morphology (HP:0005938)5.08695689
10Colon cancer (HP:0003003)4.90907615
11Nasal polyposis (HP:0100582)4.74529468
12Tented upper lip vermilion (HP:0010804)4.74221806
13Ankle clonus (HP:0011448)4.73419942
14Hepatoblastoma (HP:0002884)4.71568417
15Nephronophthisis (HP:0000090)4.42631065
16Chronic bronchitis (HP:0004469)4.25593875
17Infertility (HP:0000789)4.24852013
18Abnormal ciliary motility (HP:0012262)4.16419092
19Slender build (HP:0001533)4.04679041
20Ragged-red muscle fibers (HP:0003200)3.99628038
21Astrocytoma (HP:0009592)3.83269490
22Abnormality of the astrocytes (HP:0100707)3.83269490
23Abnormality of the nasal mucosa (HP:0000433)3.82648080
24Broad distal phalanx of finger (HP:0009836)3.81930736
25Stomach cancer (HP:0012126)3.77975666
26Subacute progressive viral hepatitis (HP:0006572)3.61149403
27Tubulointerstitial nephritis (HP:0001970)3.55175851
28Type 1 muscle fiber predominance (HP:0003803)3.52710042
29Papillary thyroid carcinoma (HP:0002895)3.51278842
30Medulloblastoma (HP:0002885)3.45476179
31Spastic tetraparesis (HP:0001285)3.44512934
32Myokymia (HP:0002411)3.41446283
33Abnormality of the renal medulla (HP:0100957)3.34842136
34Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.33777499
35Decreased activity of mitochondrial respiratory chain (HP:0008972)3.33777499
36Supranuclear gaze palsy (HP:0000605)3.27606426
37Hand muscle atrophy (HP:0009130)3.20054869
38Upper motor neuron abnormality (HP:0002127)3.16796286
39Glioma (HP:0009733)3.12912042
40Nemaline bodies (HP:0003798)3.07181625
41Abnormal spermatogenesis (HP:0008669)3.03955993
42Intellectual disability, moderate (HP:0002342)3.00260753
43Polyphagia (HP:0002591)2.94597098
44Failure to thrive in infancy (HP:0001531)2.94350160
45* Retinal dysplasia (HP:0007973)2.90777999
46Distal upper limb amyotrophy (HP:0007149)2.90077953
47Upper limb amyotrophy (HP:0009129)2.90077953
48Spastic gait (HP:0002064)2.81691912
49* Hypoplasia of the brainstem (HP:0002365)2.80609065
50* Aplasia/Hypoplasia of the brainstem (HP:0007362)2.80609065
51Chromosomal breakage induced by crosslinking agents (HP:0003221)2.78965433
52Bronchiectasis (HP:0002110)2.77226438
53Bronchitis (HP:0012387)2.70589705
54Focal motor seizures (HP:0011153)2.66772402
55Tubular atrophy (HP:0000092)2.65452718
56Azoospermia (HP:0000027)2.63737928
57Neoplasm of the heart (HP:0100544)2.59822174
58Neoplasm of the oral cavity (HP:0100649)2.58431516
59Myopathic facies (HP:0002058)2.50044868
60Focal seizures (HP:0007359)2.47336215
61Abnormal eating behavior (HP:0100738)2.47143684
62Spastic tetraplegia (HP:0002510)2.47120796
63Large hands (HP:0001176)2.45727382
64Tubulointerstitial abnormality (HP:0001969)2.45646821
65Stridor (HP:0010307)2.44021233
66Abnormality of the renal cortex (HP:0011035)2.42896602
67Chromsome breakage (HP:0040012)2.39193629
68Postaxial foot polydactyly (HP:0001830)2.38854096
69Neoplasm of the adrenal gland (HP:0100631)2.37660333
70Bulbar palsy (HP:0001283)2.33345736
71Molar tooth sign on MRI (HP:0002419)2.33262679
72Abnormality of midbrain morphology (HP:0002418)2.33262679
73Recurrent otitis media (HP:0000403)2.33073494
74Amblyopia (HP:0000646)2.32786804
75Hypsarrhythmia (HP:0002521)2.30318390
76Frequent falls (HP:0002359)2.29786688
77Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.27228645
78Gonadotropin excess (HP:0000837)2.26565500
79Lower limb muscle weakness (HP:0007340)2.26243154
80EEG with generalized epileptiform discharges (HP:0011198)2.25129208
81Micronodular cirrhosis (HP:0001413)2.23976382
82Neurofibrillary tangles (HP:0002185)2.22859760
83Epileptiform EEG discharges (HP:0011182)2.19917695
84Preaxial hand polydactyly (HP:0001177)2.19116232
85Clonus (HP:0002169)2.18332835
86Neuronal loss in central nervous system (HP:0002529)2.18207622
87Neoplasm of the small intestine (HP:0100833)2.17186275
88Abnormality of the lower motor neuron (HP:0002366)2.16719749
89Synophrys (HP:0000664)2.15781177
90Postural instability (HP:0002172)2.15543798
91Embryonal neoplasm (HP:0002898)2.15496684
92Urinary urgency (HP:0000012)2.15235366
93Turricephaly (HP:0000262)2.15022315
94Hyperacusis (HP:0010780)2.14872094
95Hepatocellular carcinoma (HP:0001402)2.12655002
96Severe visual impairment (HP:0001141)2.10969610
97Viral hepatitis (HP:0006562)2.08980916
98Bile duct proliferation (HP:0001408)2.04570673
99Abnormal biliary tract physiology (HP:0012439)2.04570673
100Recurrent sinusitis (HP:0011108)2.04159707
101Atonic seizures (HP:0010819)2.03419757
102Duplicated collecting system (HP:0000081)2.02607885
103Impulsivity (HP:0100710)2.02313189
104Epileptic encephalopathy (HP:0200134)2.02185696
105Thyroid-stimulating hormone excess (HP:0002925)2.01845872
106Growth hormone excess (HP:0000845)1.98508440
107* Hypoplasia of the corpus callosum (HP:0002079)1.97585670
108Cerebral hypomyelination (HP:0006808)1.96411206
109Muscle fiber inclusion bodies (HP:0100299)1.95787050
110Abnormality of pyrimidine metabolism (HP:0004353)1.95174437
111Rimmed vacuoles (HP:0003805)1.93379231
112Atelectasis (HP:0100750)1.93338263
113Congenital hepatic fibrosis (HP:0002612)1.93211084
114Gait imbalance (HP:0002141)1.89301443
115Bronchomalacia (HP:0002780)1.89203446
116Vitreoretinal degeneration (HP:0000655)1.89125289
117Selective tooth agenesis (HP:0001592)1.88632231
118Renal cortical cysts (HP:0000803)1.88206655
119Stage 5 chronic kidney disease (HP:0003774)1.86193800
120Chest pain (HP:0100749)1.85565322
121Sleep apnea (HP:0010535)1.85107770
122Truncal ataxia (HP:0002078)1.84883002
123Self-mutilation (HP:0000742)1.84546684
124Medial flaring of the eyebrow (HP:0010747)1.83926154
125Optic nerve coloboma (HP:0000588)1.83607116
126Open mouth (HP:0000194)1.83300460
127Ulnar bowing (HP:0003031)1.83099535
128Asymmetric septal hypertrophy (HP:0001670)1.82667999
129Renovascular hypertension (HP:0100817)1.82385440
130High anterior hairline (HP:0009890)1.82272930
131Absent epiphyses (HP:0010577)1.81515529
132Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.81515529
133Bony spicule pigmentary retinopathy (HP:0007737)1.81446713
134Thyroid carcinoma (HP:0002890)1.80993416
135Dental crowding (HP:0000678)1.80944709
136Hypoventilation (HP:0002791)1.80908899
137Hypoplasia of the capital femoral epiphysis (HP:0003090)1.80422789
138Centrally nucleated skeletal muscle fibers (HP:0003687)1.80376634
139Precocious puberty (HP:0000826)1.78646617
140Pancytopenia (HP:0001876)1.78248242
141Bell-shaped thorax (HP:0001591)1.77421972
14211 pairs of ribs (HP:0000878)1.76759592
143Abnormality of the aortic arch (HP:0012303)1.76560016
144Rapidly progressive (HP:0003678)1.76018998
145Esotropia (HP:0000565)1.74967801
146Spinal canal stenosis (HP:0003416)1.74373499
147Cervical subluxation (HP:0003308)1.73759922
148Mildly elevated creatine phosphokinase (HP:0008180)1.73616165
149Obstructive sleep apnea (HP:0002870)1.73476649
150Depression (HP:0000716)1.73423178
151Flattened epiphyses (HP:0003071)1.73392622
152CNS hypomyelination (HP:0003429)1.72265093
153Abnormality of the renal collecting system (HP:0004742)1.72046036
154J-shaped sella turcica (HP:0002680)1.71956873
155Insomnia (HP:0100785)1.71624159
156Myotonia (HP:0002486)1.71051198
157Annular pancreas (HP:0001734)1.69994107
158Fetal akinesia sequence (HP:0001989)1.69645886
159Hammertoe (HP:0001765)1.69288283
160Ulnar claw (HP:0001178)1.69033890
161Pointed chin (HP:0000307)1.68371215
162Reticulocytopenia (HP:0001896)1.67913375
163Recurrent bronchitis (HP:0002837)1.67253592
164Pancreatic fibrosis (HP:0100732)1.67075770
165Peripheral hypomyelination (HP:0007182)1.66832210
166Long toe (HP:0010511)1.66309764
167Cerebral inclusion bodies (HP:0100314)1.65682986
168EMG: neuropathic changes (HP:0003445)1.65596717
169Febrile seizures (HP:0002373)1.65464134
170Short nail (HP:0001799)1.64231115
171Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.64006711
172Hypercortisolism (HP:0001578)1.63626521
173Aplasia/Hypoplasia of the uvula (HP:0010293)1.63143817
174Elfin facies (HP:0004428)1.63033544
175Neoplasm of the colon (HP:0100273)1.63027566
176Split foot (HP:0001839)1.62937297
177Flat capital femoral epiphysis (HP:0003370)1.62396180
178Attenuation of retinal blood vessels (HP:0007843)1.61805594
179* Absent speech (HP:0001344)1.61581878
180Infantile muscular hypotonia (HP:0008947)1.61495670
181Male infertility (HP:0003251)1.60774696
182Cystic liver disease (HP:0006706)1.60046420
183Ectopic kidney (HP:0000086)1.59516464
184Status epilepticus (HP:0002133)1.59176664
185Increased number of teeth (HP:0011069)1.57554904
186Lymphangioma (HP:0100764)1.55979005
187Alacrima (HP:0000522)1.55870535
188Exercise-induced myalgia (HP:0003738)1.55473821
189Steppage gait (HP:0003376)1.55438726
190Abnormality of the columella (HP:0009929)1.54499260
191Thin bony cortex (HP:0002753)1.54078833
192Broad face (HP:0000283)1.52570201
193Intention tremor (HP:0002080)1.52204838
194* Pachygyria (HP:0001302)1.51814607

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK46.13445233
2PDK36.13445233
3PNCK4.20646700
4PDK23.61323746
5MARK13.47499150
6ICK3.37686625
7CSNK1A1L2.96384100
8CAMK1G2.95706601
9TESK12.62983423
10TRIB32.62296096
11CSNK1G32.43242597
12SIK22.30922950
13EPHA42.28396457
14MAPK152.26679462
15EEF2K2.23092107
16FES2.17493911
17MAP2K72.17024771
18NTRK22.08269754
19NEK22.04789766
20BRD41.85266723
21TESK21.77264365
22EIF2AK11.77155252
23CSNK1G11.73892790
24CSNK1G21.72046601
25TYRO31.67526571
26PAK61.66576890
27TTK1.58603181
28NTRK31.56282771
29PRKD31.54329142
30MAP3K41.44994947
31ATR1.44349543
32WEE11.40996899
33CASK1.40830821
34CDC71.39674267
35CHEK21.34910703
36UHMK11.33687997
37MAP4K21.32234979
38CAMKK11.29985432
39MAP2K41.25684565
40MAP3K111.24112581
41RIPK11.23830911
42CDK121.22857285
43CCNB11.22311483
44RPS6KA21.19524704
45DAPK21.19259866
46DYRK21.18777859
47PHKG21.17870953
48PHKG11.17870953
49MKNK21.17139667
50CDK91.14794459
51STK161.14202825
52MINK11.12811016
53NTRK11.12158965
54LIMK11.11024929
55SRPK11.09675073
56SIK31.06696517
57MAPK131.06399976
58PIM21.05649888
59CAMK1D1.03732934
60MARK31.03613648
61ZAK1.00228840
62PINK11.00135735
63BCR0.97578351
64CDK50.96119115
65KDR0.95888170
66BRSK20.92513579
67BCKDK0.89536450
68TRIM280.87669373
69MAP3K100.87062527
70SGK2230.85309324
71SGK4940.85309324
72TNK20.84716382
73RPS6KB10.84001198
74CAMK2B0.83600919
75DYRK30.82483306
76PRKD20.82209544
77MAP3K60.82041513
78DDR20.81760759
79PLK10.81589171
80CDK70.81164461
81CHEK10.80863085
82PASK0.79808012
83WNK40.79589836
84STK30.79583489
85RPS6KB20.77760227
86PIM10.77404387
87CAMK10.75398769
88PTK2B0.74448338
89STK38L0.73955673
90WNK10.72770280
91MAP2K20.72419719
92TTN0.70225520
93CDK140.70129682
94CDK190.67603595
95FGFR20.66810900
96FER0.66017347
97MAP2K60.65956190
98RET0.65876167
99PIK3CG0.65080264
100PKN10.64850833
101MAP3K70.64705381
102IRAK10.62018016
103CAMK40.60107778
104PDGFRA0.57883218
105CDK11A0.57483423
106PDPK10.56724563
107RPS6KL10.55970266
108RPS6KC10.55970266
109ADRBK20.55450098
110CDK40.55350459
111CDK150.53884007
112CDK180.52966062
113ARAF0.52926006
114BUB10.51583492
115NEK60.51567816
116SIK10.50730417
117MKNK10.50483222
118EPHA20.50296534
119RPS6KA60.49904015
120RPS6KA10.48348028
121MAPK120.48309095
122RPS6KA50.47887142
123IRAK20.46824289
124DAPK10.45596015
125ERN10.45484841
126CSNK1D0.45062552
127BMX0.45016650
128PRKCG0.44839053
129PDK10.43906009
130AURKA0.43796652
131LMTK20.43561079
132MAPK40.43530501
133FRK0.43503384
134PRKD10.43362211
135TNIK0.42764251
136ATM0.42514532
137CAMK2A0.42335167
138BRSK10.42251396
139KSR20.40195917
140PKN20.39557213
141DYRK1B0.37987039
142CAMK2G0.36352378
143STK390.35079195
144VRK10.34745136
145PRKAA10.34270589
146CSF1R0.32812703
147PLK40.32349590
148MARK20.30760228
149ERBB40.28558014
150MAPK110.28295375
151AKT20.27904957
152STK380.27837650
153MTOR0.27763604
154KIT0.27672080
155PAK10.26798557
156CAMKK20.26210809
157TLK10.26042955
158BTK0.25130471
159ACVR1B0.25032840
160SCYL20.23743708
161AURKB0.23505547
162MAPKAPK30.22464776
163MAP4K10.20974435
164PAK20.20722245
165STK40.20505778
166CDK10.20244227
167CSNK2A10.20084264
168BRAF0.19087200

Predicted pathways (KEGG)

RankGene SetZ-score
1Selenocompound metabolism_Homo sapiens_hsa004505.23832698
2Sulfur metabolism_Homo sapiens_hsa009204.70472658
3Synaptic vesicle cycle_Homo sapiens_hsa047213.00454718
4Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.95537318
5Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.90274861
6Propanoate metabolism_Homo sapiens_hsa006402.88078192
7DNA replication_Homo sapiens_hsa030302.62082199
8Pyruvate metabolism_Homo sapiens_hsa006202.47519568
9Fanconi anemia pathway_Homo sapiens_hsa034602.40481352
10Drug metabolism - other enzymes_Homo sapiens_hsa009832.27228060
11Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.22029475
12Nicotine addiction_Homo sapiens_hsa050332.20013208
13Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.11717953
14Mismatch repair_Homo sapiens_hsa034302.08032849
15Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.07448099
16Fatty acid biosynthesis_Homo sapiens_hsa000612.04930090
17Vitamin B6 metabolism_Homo sapiens_hsa007502.04491516
18Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.94845416
19Pentose phosphate pathway_Homo sapiens_hsa000301.94565254
20Fatty acid degradation_Homo sapiens_hsa000711.92480766
21GABAergic synapse_Homo sapiens_hsa047271.89857220
22Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.87917407
23Homologous recombination_Homo sapiens_hsa034401.81361338
24Circadian entrainment_Homo sapiens_hsa047131.76411822
25PPAR signaling pathway_Homo sapiens_hsa033201.71057231
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.70538367
27Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.67217300
28Morphine addiction_Homo sapiens_hsa050321.64466909
29Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.61086848
30ABC transporters_Homo sapiens_hsa020101.60852550
31* Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.60546809
32Fatty acid metabolism_Homo sapiens_hsa012121.59575942
33Cocaine addiction_Homo sapiens_hsa050301.55281199
34One carbon pool by folate_Homo sapiens_hsa006701.53564316
35Glutamatergic synapse_Homo sapiens_hsa047241.53367640
36Vibrio cholerae infection_Homo sapiens_hsa051101.53125837
37Taste transduction_Homo sapiens_hsa047421.49984136
38Base excision repair_Homo sapiens_hsa034101.49073388
39Dopaminergic synapse_Homo sapiens_hsa047281.43169585
40Axon guidance_Homo sapiens_hsa043601.41569778
41Aldosterone synthesis and secretion_Homo sapiens_hsa049251.39809163
42Systemic lupus erythematosus_Homo sapiens_hsa053221.37932452
43Notch signaling pathway_Homo sapiens_hsa043301.35753985
44Pyrimidine metabolism_Homo sapiens_hsa002401.35629638
45Carbon metabolism_Homo sapiens_hsa012001.34272831
46Primary bile acid biosynthesis_Homo sapiens_hsa001201.32183418
47alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.30622380
48Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.26594002
49Cysteine and methionine metabolism_Homo sapiens_hsa002701.24133226
50Insulin secretion_Homo sapiens_hsa049111.23834793
51Amphetamine addiction_Homo sapiens_hsa050311.22334974
52Tryptophan metabolism_Homo sapiens_hsa003801.21879418
53Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.20402662
54Glutathione metabolism_Homo sapiens_hsa004801.19280886
55Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.18461902
56Purine metabolism_Homo sapiens_hsa002301.18049765
57Gap junction_Homo sapiens_hsa045401.17843710
58Pentose and glucuronate interconversions_Homo sapiens_hsa000401.17825356
59N-Glycan biosynthesis_Homo sapiens_hsa005101.14886808
60Gastric acid secretion_Homo sapiens_hsa049711.12647210
61Linoleic acid metabolism_Homo sapiens_hsa005911.10523890
62Glycerolipid metabolism_Homo sapiens_hsa005611.09895145
63Basal transcription factors_Homo sapiens_hsa030221.09424547
64Regulation of autophagy_Homo sapiens_hsa041401.09079466
65Cholinergic synapse_Homo sapiens_hsa047251.08937208
66Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.08062059
67beta-Alanine metabolism_Homo sapiens_hsa004101.07517644
68Collecting duct acid secretion_Homo sapiens_hsa049661.05319819
69Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.04713923
70Lysine degradation_Homo sapiens_hsa003101.04711746
71Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.03512367
72Phosphatidylinositol signaling system_Homo sapiens_hsa040701.02925241
73Biosynthesis of amino acids_Homo sapiens_hsa012301.02325905
74RNA transport_Homo sapiens_hsa030130.98422160
75Peroxisome_Homo sapiens_hsa041460.98018974
76Oxytocin signaling pathway_Homo sapiens_hsa049210.97839977
77Chemical carcinogenesis_Homo sapiens_hsa052040.95705991
78Calcium signaling pathway_Homo sapiens_hsa040200.94796608
79AMPK signaling pathway_Homo sapiens_hsa041520.94184698
80Salivary secretion_Homo sapiens_hsa049700.93744774
81Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.93470378
82Estrogen signaling pathway_Homo sapiens_hsa049150.92911613
83VEGF signaling pathway_Homo sapiens_hsa043700.91833764
84Lysosome_Homo sapiens_hsa041420.91056051
85Thyroid hormone signaling pathway_Homo sapiens_hsa049190.90812573
86Choline metabolism in cancer_Homo sapiens_hsa052310.90801665
87Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.90337483
88Glycosaminoglycan degradation_Homo sapiens_hsa005310.88573219
89Vitamin digestion and absorption_Homo sapiens_hsa049770.88515280
90Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.88469966
91Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.88373542
92Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.86060807
93Sulfur relay system_Homo sapiens_hsa041220.85544403
94Endocytosis_Homo sapiens_hsa041440.85227763
95Inositol phosphate metabolism_Homo sapiens_hsa005620.84038627
96Melanogenesis_Homo sapiens_hsa049160.83027674
97Dilated cardiomyopathy_Homo sapiens_hsa054140.82597894
98Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.81866935
99Glucagon signaling pathway_Homo sapiens_hsa049220.81532000
100Arachidonic acid metabolism_Homo sapiens_hsa005900.80299203
101Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.79589028
102Basal cell carcinoma_Homo sapiens_hsa052170.79475162
103Long-term potentiation_Homo sapiens_hsa047200.79434211
104Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.78853464
105Fat digestion and absorption_Homo sapiens_hsa049750.78732582
106Phospholipase D signaling pathway_Homo sapiens_hsa040720.78614999
107Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.78314299
108Olfactory transduction_Homo sapiens_hsa047400.78063496
109Phototransduction_Homo sapiens_hsa047440.77976266
110Long-term depression_Homo sapiens_hsa047300.76749572
111Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.76661559
112Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.73983947
113Steroid hormone biosynthesis_Homo sapiens_hsa001400.73086765
114ErbB signaling pathway_Homo sapiens_hsa040120.72644401
115Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.72389512
116Complement and coagulation cascades_Homo sapiens_hsa046100.72352837
117GnRH signaling pathway_Homo sapiens_hsa049120.72133237
118Hedgehog signaling pathway_Homo sapiens_hsa043400.71644417
119Cell cycle_Homo sapiens_hsa041100.71358353
120cAMP signaling pathway_Homo sapiens_hsa040240.71042196
121Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71032164
122Spliceosome_Homo sapiens_hsa030400.70366035
123Retinol metabolism_Homo sapiens_hsa008300.68452073
124Non-homologous end-joining_Homo sapiens_hsa034500.68234903
125Nucleotide excision repair_Homo sapiens_hsa034200.67894277
126Metabolic pathways_Homo sapiens_hsa011000.67019497
127Caffeine metabolism_Homo sapiens_hsa002320.66893041
128Neurotrophin signaling pathway_Homo sapiens_hsa047220.65764631
129Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.65593739
130Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.65200970
131Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.64434248
132Folate biosynthesis_Homo sapiens_hsa007900.63742548
133Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.62655841
134Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.61785857
135Cyanoamino acid metabolism_Homo sapiens_hsa004600.61485850
136Prion diseases_Homo sapiens_hsa050200.61090509
137Longevity regulating pathway - mammal_Homo sapiens_hsa042110.60798500
138Insulin signaling pathway_Homo sapiens_hsa049100.60083880
139Glioma_Homo sapiens_hsa052140.59508292
140Cardiac muscle contraction_Homo sapiens_hsa042600.58662049
141MAPK signaling pathway_Homo sapiens_hsa040100.58481125
142Circadian rhythm_Homo sapiens_hsa047100.58130544
143Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.58032363
144Other glycan degradation_Homo sapiens_hsa005110.57931239
145mTOR signaling pathway_Homo sapiens_hsa041500.56955817
146Arginine biosynthesis_Homo sapiens_hsa002200.56401333
147RNA degradation_Homo sapiens_hsa030180.56051422
148Glycerophospholipid metabolism_Homo sapiens_hsa005640.52989705
149Renin-angiotensin system_Homo sapiens_hsa046140.51026235
150Type II diabetes mellitus_Homo sapiens_hsa049300.50847492
151Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50743202
152Fructose and mannose metabolism_Homo sapiens_hsa000510.50326565
153Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.48445607
154Serotonergic synapse_Homo sapiens_hsa047260.48167017
155Bile secretion_Homo sapiens_hsa049760.45155649
156Starch and sucrose metabolism_Homo sapiens_hsa005000.42400068
157Ribosome_Homo sapiens_hsa030100.42381237
158Huntingtons disease_Homo sapiens_hsa050160.41547669
159Endometrial cancer_Homo sapiens_hsa052130.37621527
1602-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.37564768
161Autoimmune thyroid disease_Homo sapiens_hsa053200.37419937
162Herpes simplex infection_Homo sapiens_hsa051680.35741804
163Butanoate metabolism_Homo sapiens_hsa006500.35407795
164Histidine metabolism_Homo sapiens_hsa003400.34531766
165mRNA surveillance pathway_Homo sapiens_hsa030150.34316255
166Alcoholism_Homo sapiens_hsa050340.32125137
167Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.32066316
168Staphylococcus aureus infection_Homo sapiens_hsa051500.31258184
169Carbohydrate digestion and absorption_Homo sapiens_hsa049730.30848447
170Arginine and proline metabolism_Homo sapiens_hsa003300.29162389
171p53 signaling pathway_Homo sapiens_hsa041150.28044988
172Oocyte meiosis_Homo sapiens_hsa041140.26249870
173Adipocytokine signaling pathway_Homo sapiens_hsa049200.24469867
174Colorectal cancer_Homo sapiens_hsa052100.23361166
175Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.22976421

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