LHFPL1

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





Description: This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1desmosome organization (GO:0002934)8.85333770
2intermediate filament organization (GO:0045109)8.35213683
3negative regulation of dendrite morphogenesis (GO:0050774)6.73385955
4ribosomal small subunit assembly (GO:0000028)6.72281713
5urate metabolic process (GO:0046415)5.86842332
6intermediate filament cytoskeleton organization (GO:0045104)5.83190937
7viral transcription (GO:0019083)5.81761421
8chaperone-mediated protein transport (GO:0072321)5.72158622
9response to xenobiotic stimulus (GO:0009410)5.71471775
10intermediate filament-based process (GO:0045103)5.69017902
11translational termination (GO:0006415)5.59745846
12negative regulation of cardiac muscle cell apoptotic process (GO:0010667)5.30479991
13plasma membrane repair (GO:0001778)5.14123356
14negative regulation of striated muscle cell apoptotic process (GO:0010664)5.07462948
15SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.93678762
16regulation of cardioblast differentiation (GO:0051890)4.90365352
17cotranslational protein targeting to membrane (GO:0006613)4.85829625
18regulation of translational termination (GO:0006449)4.85036886
19translational elongation (GO:0006414)4.84328929
20bundle of His cell to Purkinje myocyte communication (GO:0086069)4.82820680
21protein targeting to ER (GO:0045047)4.76781269
22response to pheromone (GO:0019236)4.72775647
23nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.60218378
24establishment of protein localization to endoplasmic reticulum (GO:0072599)4.55404533
25maturation of SSU-rRNA (GO:0030490)4.51882181
26positive regulation of actin filament depolymerization (GO:0030836)4.39910721
27protein localization to endoplasmic reticulum (GO:0070972)4.33488748
28negative regulation of smooth muscle cell differentiation (GO:0051151)4.23598820
29negative regulation of dendrite development (GO:2000171)4.21607094
30cellular protein complex disassembly (GO:0043624)4.21482958
31axon development (GO:0061564)4.20751491
32viral life cycle (GO:0019058)4.17394254
33mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.16274141
34energy coupled proton transport, down electrochemical gradient (GO:0015985)4.15790569
35ATP synthesis coupled proton transport (GO:0015986)4.15790569
36translational initiation (GO:0006413)4.14794729
37regulation of RNA export from nucleus (GO:0046831)4.14723374
38negative regulation of gene silencing (GO:0060969)4.13684923
39negative regulation of potassium ion transmembrane transport (GO:1901380)4.13286049
40Wnt signaling pathway, planar cell polarity pathway (GO:0060071)4.13012591
41ribosomal small subunit biogenesis (GO:0042274)4.12177089
42cullin deneddylation (GO:0010388)3.97074801
43negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.88590302
44regulation of establishment of planar polarity (GO:0090175)3.88462489
45calcium-mediated signaling using intracellular calcium source (GO:0035584)3.86878591
46cell migration in hindbrain (GO:0021535)3.82565712
47cell communication involved in cardiac conduction (GO:0086065)3.81701949
48protein complex disassembly (GO:0043241)3.76109648
49regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.70023656
50neuronal action potential propagation (GO:0019227)3.69760690
51DNA damage response, detection of DNA damage (GO:0042769)3.64510154
52G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.61378767
53regulation of striated muscle cell apoptotic process (GO:0010662)3.60503046
54otic vesicle formation (GO:0030916)3.55480338
55negative regulation of histone methylation (GO:0031061)3.52920575
56peripheral nervous system neuron development (GO:0048935)3.51855315
57regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.49466545
58positive regulation of meiotic cell cycle (GO:0051446)3.48165235
59cornea development in camera-type eye (GO:0061303)3.47863826
60macromolecular complex disassembly (GO:0032984)3.47274726
61protein deneddylation (GO:0000338)3.46101617
62cardiac muscle tissue morphogenesis (GO:0055008)3.46055967
63purine nucleobase biosynthetic process (GO:0009113)3.45689939
64nephron tubule formation (GO:0072079)3.42865167
65nuclear-transcribed mRNA catabolic process (GO:0000956)3.42526035
66presynaptic membrane assembly (GO:0097105)3.40687024
67formation of translation preinitiation complex (GO:0001731)3.39668265
68muscle tissue morphogenesis (GO:0060415)3.37248744
69paraxial mesoderm development (GO:0048339)3.37227792
70keratinocyte proliferation (GO:0043616)3.37207497
71regulation of secondary heart field cardioblast proliferation (GO:0003266)3.36435924
72regulation of cardioblast proliferation (GO:0003264)3.36435924
73translation (GO:0006412)3.35873239
74enteric nervous system development (GO:0048484)3.35107357
75non-canonical Wnt signaling pathway (GO:0035567)3.34695583
76sphingoid metabolic process (GO:0046519)3.34168561
77mitochondrial respiratory chain complex I assembly (GO:0032981)3.33924868
78NADH dehydrogenase complex assembly (GO:0010257)3.33924868
79mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.33924868
80chromatin remodeling at centromere (GO:0031055)3.32727204
81cell migration involved in gastrulation (GO:0042074)3.31209965
82cardiac right ventricle morphogenesis (GO:0003215)3.30665095
83positive regulation of potassium ion transmembrane transport (GO:1901381)3.29427960
84innervation (GO:0060384)3.29090357
85regulation of axon regeneration (GO:0048679)3.28948076
86regulation of neuron projection regeneration (GO:0070570)3.28948076
87outflow tract septum morphogenesis (GO:0003148)3.27649885
88mesenchyme morphogenesis (GO:0072132)3.26873488
89atrioventricular valve morphogenesis (GO:0003181)3.24888931
90regulation of transforming growth factor beta2 production (GO:0032909)3.24472471
91regulation of helicase activity (GO:0051095)3.23161246
92mRNA catabolic process (GO:0006402)3.23104764
93positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.23091849
94protein targeting to membrane (GO:0006612)3.22020460
95regulation of posttranscriptional gene silencing (GO:0060147)3.21341710
96regulation of gene silencing by miRNA (GO:0060964)3.21341710
97regulation of gene silencing by RNA (GO:0060966)3.21341710
98negative regulation of cell fate specification (GO:0009996)3.20464484
99axon cargo transport (GO:0008088)3.20310114
100ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.19983957
101determination of adult lifespan (GO:0008340)3.19348455
102positive regulation of cardiac muscle tissue development (GO:0055025)3.19106802
103positive regulation of potassium ion transport (GO:0043268)3.17656325
104ventricular cardiac muscle cell action potential (GO:0086005)3.16632392
105neural crest cell development (GO:0014032)3.16194761
106response to nitrosative stress (GO:0051409)3.12911845
107mitochondrial DNA replication (GO:0006264)3.12711606
108ribosomal large subunit biogenesis (GO:0042273)3.12450714
109proline transport (GO:0015824)3.11595980
110left/right pattern formation (GO:0060972)3.11171879
111lateral sprouting from an epithelium (GO:0060601)3.10332573
112endocardial cushion morphogenesis (GO:0003203)3.09228196
113positive regulation of protein complex disassembly (GO:0043243)3.09105913
114membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.08707557
115CENP-A containing nucleosome assembly (GO:0034080)3.08154516
116establishment of protein localization to mitochondrial membrane (GO:0090151)3.07626731
117RNA catabolic process (GO:0006401)3.06419225
118dorsal/ventral axis specification (GO:0009950)3.05552693
119nephron tubule morphogenesis (GO:0072078)3.05142881
120nephron epithelium morphogenesis (GO:0072088)3.05142881
121regulation of chromatin silencing (GO:0031935)3.03973514
122collecting duct development (GO:0072044)3.01398111
123positive regulation of male gonad development (GO:2000020)2.99779166
124positive regulation of cardiac muscle cell differentiation (GO:2000727)2.99678844
125cytoskeletal anchoring at plasma membrane (GO:0007016)2.99592032
126establishment of planar polarity (GO:0001736)2.99442372
127establishment of tissue polarity (GO:0007164)2.99442372
128regulation of cardiac muscle cell apoptotic process (GO:0010665)2.99432060
129regulation of heart rate by cardiac conduction (GO:0086091)2.99208025
130mitochondrial respiratory chain complex assembly (GO:0033108)2.98249124
131lung-associated mesenchyme development (GO:0060484)2.97804129
132positive regulation of mitochondrial membrane permeability (GO:0035794)2.97522165
133GTP biosynthetic process (GO:0006183)2.97037762
134regulation of relaxation of muscle (GO:1901077)2.96941883
135regulation of ruffle assembly (GO:1900027)2.96591879
136hemidesmosome assembly (GO:0031581)2.96448055
137regulation of nucleobase-containing compound transport (GO:0032239)2.96052461
138water-soluble vitamin biosynthetic process (GO:0042364)2.95249397
139regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.95161609
140regulation of clathrin-mediated endocytosis (GO:2000369)2.94886282
141cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.94265327
142negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)2.93104390
143muscle filament sliding (GO:0030049)2.89394316
144actin-myosin filament sliding (GO:0033275)2.89394316
145regulation of histone H3-K9 methylation (GO:0051570)2.89222136
146regulation of mesoderm development (GO:2000380)2.87606515
147oxidative phosphorylation (GO:0006119)2.87309654
148detection of temperature stimulus (GO:0016048)2.87257579
149regulation of cell fate specification (GO:0042659)2.86013247
150epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.85813176
151regulation of smooth muscle cell differentiation (GO:0051150)2.85237321
152protein complex biogenesis (GO:0070271)2.84744252
153negative regulation of skeletal muscle tissue development (GO:0048642)2.83986371
154membrane budding (GO:0006900)2.83829041
155histone exchange (GO:0043486)2.83552447
156sodium ion export (GO:0071436)2.82587287
157establishment of integrated proviral latency (GO:0075713)2.82307034
158keratinization (GO:0031424)2.82279906
159cardiac muscle contraction (GO:0060048)2.81511131
160regulation of potassium ion transmembrane transporter activity (GO:1901016)2.81081919
161positive regulation of cardiac muscle tissue growth (GO:0055023)2.81007370
162UTP metabolic process (GO:0046051)2.79968637
163heart process (GO:0003015)2.79668821
164heart contraction (GO:0060047)2.79668821
165inner mitochondrial membrane organization (GO:0007007)2.79492631
166keratinocyte differentiation (GO:0030216)2.79246253
167heterochromatin organization (GO:0070828)2.78593529
168male genitalia development (GO:0030539)2.78586015
169kinetochore assembly (GO:0051382)2.78428809
170sphingosine metabolic process (GO:0006670)2.78154338
171regulation of organ formation (GO:0003156)2.77602224
172nucleobase biosynthetic process (GO:0046112)2.77030698
173presynaptic membrane organization (GO:0097090)2.76824693
174establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.76747832
175mitochondrion transport along microtubule (GO:0047497)2.76747832
176cardiac myofibril assembly (GO:0055003)2.75700473
177negative regulation of meiotic cell cycle (GO:0051447)2.73948805
178pre-miRNA processing (GO:0031054)2.73525634
179regulation of gene silencing (GO:0060968)2.72980724
180detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.72298625
181detection of temperature stimulus involved in sensory perception (GO:0050961)2.72298625
182negative regulation of kidney development (GO:0090185)2.72164095
183negative regulation of ion transmembrane transporter activity (GO:0032413)2.71213939
184regulation of potassium ion transmembrane transport (GO:1901379)2.70592933
185lymph vessel development (GO:0001945)2.70337158
186regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.70120099
187membrane repolarization (GO:0086009)2.70065965
188regulation of microtubule-based movement (GO:0060632)2.69869218
189negative regulation of catenin import into nucleus (GO:0035414)2.69581370
190heart valve morphogenesis (GO:0003179)2.69430818
191positive regulation of cardiac muscle cell proliferation (GO:0060045)2.69167628
192phospholipid scrambling (GO:0017121)2.68257942
193purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.68038152
194epidermal cell differentiation (GO:0009913)2.67803836
195cardiac muscle cell action potential involved in contraction (GO:0086002)2.67364738
196protein heterotrimerization (GO:0070208)2.66898033
197pituitary gland development (GO:0021983)2.66240874
198spliceosomal complex assembly (GO:0000245)2.64282936
199neurofilament cytoskeleton organization (GO:0060052)13.6960129

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human8.17631580
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse5.44492423
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.46029679
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.44194031
5SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.36472922
6STAT6_21828071_ChIP-Seq_BEAS2B_Human3.27980618
7E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.75569338
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.75147480
9GABP_17652178_ChIP-ChIP_JURKAT_Human2.74657275
10CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.69366847
11E2F4_17652178_ChIP-ChIP_JURKAT_Human2.59713001
12ELK1_19687146_ChIP-ChIP_HELA_Human2.57834403
13MYC_19079543_ChIP-ChIP_MESCs_Mouse2.53324049
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.49686592
15ESR1_20079471_ChIP-ChIP_T-47D_Human2.44132638
16EST1_17652178_ChIP-ChIP_JURKAT_Human2.42952479
17POU5F1_16153702_ChIP-ChIP_HESCs_Human2.40874134
18* SOX2_16153702_ChIP-ChIP_HESCs_Human2.40532970
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.39738055
20WT1_19549856_ChIP-ChIP_CCG9911_Human2.39315292
21HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.38766536
22E2F7_22180533_ChIP-Seq_HELA_Human2.37597861
23FOXM1_23109430_ChIP-Seq_U2OS_Human2.33100870
24JARID2_20075857_ChIP-Seq_MESCs_Mouse2.32348156
25BMI1_23680149_ChIP-Seq_NPCS_Mouse2.30863614
26EZH2_18974828_ChIP-Seq_MESCs_Mouse2.24448169
27RNF2_18974828_ChIP-Seq_MESCs_Mouse2.24448169
28SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.23178832
29KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.19967971
30EED_16625203_ChIP-ChIP_MESCs_Mouse2.18086090
31IGF1R_20145208_ChIP-Seq_DFB_Human2.13769288
32KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.12357055
33KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.12357055
34KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.12357055
35NANOG_16153702_ChIP-ChIP_HESCs_Human2.12193316
36SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.10135528
37EZH2_27304074_Chip-Seq_ESCs_Mouse2.08529845
38FUS_26573619_Chip-Seq_HEK293_Human2.07797364
39TRIM28_21343339_ChIP-Seq_HEK293_Human2.06991260
40SOX9_24532713_ChIP-Seq_HFSC_Mouse1.95358884
41ZNF217_24962896_ChIP-Seq_MCF-7_Human1.94133309
42HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.94041293
43MYC_18940864_ChIP-ChIP_HL60_Human1.91960673
44SMAD_19615063_ChIP-ChIP_OVARY_Human1.90927558
45CDX2_19796622_ChIP-Seq_MESCs_Mouse1.89075544
46MYC_19030024_ChIP-ChIP_MESCs_Mouse1.87683617
47SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.84080811
48SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.82597055
49TAF15_26573619_Chip-Seq_HEK293_Human1.78886507
50MTF2_20144788_ChIP-Seq_MESCs_Mouse1.78567495
51FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.76769082
52ESR1_21235772_ChIP-Seq_MCF-7_Human1.74150751
53CREB1_15753290_ChIP-ChIP_HEK293T_Human1.73556610
54RNF2_27304074_Chip-Seq_ESCs_Mouse1.73326935
55MYC_18358816_ChIP-ChIP_MESCs_Mouse1.73227839
56EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.73116125
57FLI1_27457419_Chip-Seq_LIVER_Mouse1.68839211
58POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.68642593
59KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.68535923
60SRY_22984422_ChIP-ChIP_TESTIS_Rat1.66306729
61RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.63043952
62EZH2_27294783_Chip-Seq_ESCs_Mouse1.62470822
63EP300_21415370_ChIP-Seq_HL-1_Mouse1.62396914
64TTF2_22483619_ChIP-Seq_HELA_Human1.62097663
65ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.60724783
66ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.60525046
67PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.60350221
68ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.59627620
69SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.58474991
70EZH2_22144423_ChIP-Seq_EOC_Human1.58437752
71NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.58149949
72ETS1_20019798_ChIP-Seq_JURKAT_Human1.56263876
73TCF3_18692474_ChIP-Seq_MEFs_Mouse1.54998313
74POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.53655980
75TP53_18474530_ChIP-ChIP_U2OS_Human1.52638133
76ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.50272212
77AR_21572438_ChIP-Seq_LNCaP_Human1.48257748
78TOP2B_26459242_ChIP-Seq_MCF-7_Human1.47920638
79MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.47751927
80E2F1_18555785_ChIP-Seq_MESCs_Mouse1.47395070
81PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.46649887
82NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.46250920
83SUZ12_27294783_Chip-Seq_ESCs_Mouse1.45728079
84PIAS1_25552417_ChIP-Seq_VCAP_Human1.43539505
85JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.41575739
86ISL1_27105846_Chip-Seq_CPCs_Mouse1.40739906
87* SMAD4_21799915_ChIP-Seq_A2780_Human1.40189259
88AHR_22903824_ChIP-Seq_MCF-7_Human1.39915147
89NELFA_20434984_ChIP-Seq_ESCs_Mouse1.39458467
90IRF1_19129219_ChIP-ChIP_H3396_Human1.39417687
91TCF3_18692474_ChIP-Seq_MESCs_Mouse1.39143437
92RNF2_27304074_Chip-Seq_NSC_Mouse1.39057281
93XRN2_22483619_ChIP-Seq_HELA_Human1.38782545
94RBPJ_22232070_ChIP-Seq_NCS_Mouse1.38757051
95PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.38516736
96THAP11_20581084_ChIP-Seq_MESCs_Mouse1.38140857
97SOX2_20726797_ChIP-Seq_SW620_Human1.37921378
98SOX2_18555785_ChIP-Seq_MESCs_Mouse1.36883590
99EWS_26573619_Chip-Seq_HEK293_Human1.35662829
100CJUN_26792858_Chip-Seq_BT549_Human1.35188328
101VDR_22108803_ChIP-Seq_LS180_Human1.34814850
102* P300_19829295_ChIP-Seq_ESCs_Human1.34723726
103AR_21909140_ChIP-Seq_LNCAP_Human1.33434013
104NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.32747430
105TP53_20018659_ChIP-ChIP_R1E_Mouse1.30600172
106GBX2_23144817_ChIP-Seq_PC3_Human1.30255686
107YY1_21170310_ChIP-Seq_MESCs_Mouse1.30231447
108BP1_19119308_ChIP-ChIP_Hs578T_Human1.29981192
109TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.28842938
110YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.28527656
111NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.26732792
112NRF2_20460467_ChIP-Seq_MEFs_Mouse1.26732792
113ERG_21242973_ChIP-ChIP_JURKAT_Human1.22111173
114ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.21842632
115VDR_23849224_ChIP-Seq_CD4+_Human1.21253202
116TP63_23658742_ChIP-Seq_EP156T_Human1.21007192
117NR3C1_23031785_ChIP-Seq_PC12_Mouse1.20026563
118ARNT_22903824_ChIP-Seq_MCF-7_Human1.17685708
119* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17411444
120GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17130528
121POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.16918269
122ELK4_26923725_Chip-Seq_MESODERM_Mouse1.16721980
123SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.16665951
124CBX2_27304074_Chip-Seq_ESCs_Mouse1.15544152
125KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.14969575
126ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.14753401
127FOXP3_21729870_ChIP-Seq_TREG_Human1.14331014
128AR_25329375_ChIP-Seq_VCAP_Human1.12657651
129CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.11956555
130TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11345561
131NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.11056949
132AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.10427406
133BCAT_22108803_ChIP-Seq_LS180_Human1.10405268
134FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.09412544
135TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.05614670
136SALL1_21062744_ChIP-ChIP_HESCs_Human1.05016028
137RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04494474
138CTBP1_25329375_ChIP-Seq_LNCAP_Human1.04439146
139SRF_21415370_ChIP-Seq_HL-1_Mouse1.04107320
140FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.03656142
141SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.03330555
142SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.03330555
143ELK1_22589737_ChIP-Seq_MCF10A_Human1.02228888
144NFE2_27457419_Chip-Seq_LIVER_Mouse1.01022248
145SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.00936912
146TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00664270
147PCGF2_27294783_Chip-Seq_ESCs_Mouse0.98673216
148RING1B_27294783_Chip-Seq_ESCs_Mouse0.98390666
149BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.97866539
150NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.97543388
151TP53_16413492_ChIP-PET_HCT116_Human0.97148204
152ZNF274_21170338_ChIP-Seq_K562_Hela0.97127473
153SOX9_26525672_Chip-Seq_HEART_Mouse0.96996532
154P63_26484246_Chip-Seq_KERATINOCYTES_Human0.96889945
155SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96223566
156SMAD3_21741376_ChIP-Seq_HESCs_Human0.96007325
157ZFP57_27257070_Chip-Seq_ESCs_Mouse0.95904024
158HOXB4_20404135_ChIP-ChIP_EML_Mouse0.95527285
159WT1_25993318_ChIP-Seq_PODOCYTE_Human0.95050344
160TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94136973
161RXR_22108803_ChIP-Seq_LS180_Human0.93132442
162LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93005085
163* SMAD3_21741376_ChIP-Seq_EPCs_Human0.92992217
164CTBP2_25329375_ChIP-Seq_LNCAP_Human0.92920208
165MYCN_18555785_ChIP-Seq_MESCs_Mouse0.92367718
166MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.92003784
167PRDM14_20953172_ChIP-Seq_ESCs_Human0.91034240
168ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.89989830
169MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.89660054
170EZH2_27294783_Chip-Seq_NPCs_Mouse0.89317108
171NANOG_18555785_ChIP-Seq_MESCs_Mouse0.89085948
172TCF4_22108803_ChIP-Seq_LS180_Human0.88910025
173CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88654644
174TCF4_18268006_ChIP-ChIP_LS174T_Human0.88308140
175KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.88121484
176PPAR_26484153_Chip-Seq_NCI-H1993_Human0.87850061
177FOXM1_26456572_ChIP-Seq_MCF-7_Human0.86732898
178TBX3_20139965_ChIP-Seq_ESCs_Mouse0.85206070
179NANOG_18555785_Chip-Seq_ESCs_Mouse0.85177340
180TBX3_20139965_ChIP-Seq_MESCs_Mouse0.84512250
181MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.84371866
182POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.84201188
183PADI4_21655091_ChIP-ChIP_MCF-7_Human0.83902302
184CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.83653221
185* NANOG_19829295_ChIP-Seq_ESCs_Human0.83446151
186* SOX2_19829295_ChIP-Seq_ESCs_Human0.83446151
187UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.82995376
188FOXO3_23340844_ChIP-Seq_DLD1_Human0.82593966

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier4.98259917
2MP0003136_yellow_coat_color4.07012357
3MP0005275_abnormal_skin_tensile3.85274210
4MP0010234_abnormal_vibrissa_follicle3.40119594
5MP0003283_abnormal_digestive_organ3.31835935
6MP0003941_abnormal_skin_development3.22374470
7MP0005171_absent_coat_pigmentation3.12088987
8MP0002735_abnormal_chemical_nociception3.10254736
9MP0002736_abnormal_nociception_after2.97463279
10MP0006292_abnormal_olfactory_placode2.89214248
11MP0002009_preneoplasia2.66468550
12MP0001968_abnormal_touch/_nociception2.65256190
13MP0001529_abnormal_vocalization2.57357949
14MP0005501_abnormal_skin_physiology2.56393303
15MP0002938_white_spotting2.53028502
16MP0009379_abnormal_foot_pigmentation2.52284921
17MP0003123_paternal_imprinting2.45185006
18MP0004270_analgesia2.44330175
19MP0000537_abnormal_urethra_morphology2.39421707
20MP0003315_abnormal_perineum_morphology2.38228398
21MP0002249_abnormal_larynx_morphology2.27049614
22MP0000579_abnormal_nail_morphology2.21223481
23MP0001293_anophthalmia2.21072470
24MP0004858_abnormal_nervous_system2.20178481
25MP0002837_dystrophic_cardiac_calcinosis2.18509432
26MP0000647_abnormal_sebaceous_gland2.18440695
27MP0003937_abnormal_limbs/digits/tail_de2.17459128
28MP0000049_abnormal_middle_ear2.16842602
29MP0005451_abnormal_body_composition2.16608993
30MP0010771_integument_phenotype2.11092873
31MP0003453_abnormal_keratinocyte_physiol2.09192626
32MP0006072_abnormal_retinal_apoptosis2.05765135
33MP0002060_abnormal_skin_morphology2.01195145
34MP0002163_abnormal_gland_morphology1.97846183
35MP0004381_abnormal_hair_follicle1.94652705
36MP0003693_abnormal_embryo_hatching1.88840193
37MP0000377_abnormal_hair_follicle1.88473482
38MP0004134_abnormal_chest_morphology1.88387325
39MP0000566_synostosis1.87698925
40MP0002098_abnormal_vibrissa_morphology1.87563826
41MP0004147_increased_porphyrin_level1.81309939
42MP0003077_abnormal_cell_cycle1.78374991
43MP0000762_abnormal_tongue_morphology1.77141835
44MP0001216_abnormal_epidermal_layer1.76011462
45MP0001346_abnormal_lacrimal_gland1.74715920
46MP0000749_muscle_degeneration1.72385498
47MP0003119_abnormal_digestive_system1.72306544
48MP0001485_abnormal_pinna_reflex1.70815050
49MP0008877_abnormal_DNA_methylation1.65068863
50MP0002234_abnormal_pharynx_morphology1.64741650
51MP0009053_abnormal_anal_canal1.63980925
52MP0003705_abnormal_hypodermis_morpholog1.63787827
53MP0002734_abnormal_mechanical_nocicepti1.59630120
54MP0003938_abnormal_ear_development1.59627074
55MP0000516_abnormal_urinary_system1.58512125
56MP0005367_renal/urinary_system_phenotyp1.58512125
57MP0009384_cardiac_valve_regurgitation1.57045991
58MP0008057_abnormal_DNA_replication1.54930269
59MP0010678_abnormal_skin_adnexa1.54189847
60MP0002972_abnormal_cardiac_muscle1.54032626
61MP0003890_abnormal_embryonic-extraembry1.53383212
62MP0004957_abnormal_blastocyst_morpholog1.51042795
63MP0003122_maternal_imprinting1.47338250
64MP0003880_abnormal_central_pattern1.46804510
65MP0002733_abnormal_thermal_nociception1.42928096
66MP0008932_abnormal_embryonic_tissue1.41685687
67MP0002095_abnormal_skin_pigmentation1.39235500
68MP0003111_abnormal_nucleus_morphology1.38271382
69MP0000372_irregular_coat_pigmentation1.37238019
70MP0009046_muscle_twitch1.36360199
71MP0003942_abnormal_urinary_system1.34857033
72MP0005623_abnormal_meninges_morphology1.32532862
73MP0000631_abnormal_neuroendocrine_gland1.32390954
74MP0003646_muscle_fatigue1.32308082
75MP0004133_heterotaxia1.32197277
76MP0010094_abnormal_chromosome_stability1.29754418
77MP0003787_abnormal_imprinting1.28443640
78MP0002254_reproductive_system_inflammat1.28210767
79MP0003567_abnormal_fetal_cardiomyocyte1.28042660
80MP0004036_abnormal_muscle_relaxation1.27369925
81MP0008789_abnormal_olfactory_epithelium1.25781433
82MP0002653_abnormal_ependyma_morphology1.25021232
83MP0004510_myositis1.24138805
84MP0001849_ear_inflammation1.23807927
85MP0006276_abnormal_autonomic_nervous1.22729377
86MP0002102_abnormal_ear_morphology1.21885622
87MP0002282_abnormal_trachea_morphology1.21834437
88MP0001286_abnormal_eye_development1.21778817
89MP0000428_abnormal_craniofacial_morphol1.21624598
90MP0002090_abnormal_vision1.21275499
91MP0003566_abnormal_cell_adhesion1.20968980
92MP0001243_abnormal_dermal_layer1.20558711
93MP0002751_abnormal_autonomic_nervous1.20149435
94MP0001984_abnormal_olfaction1.18331594
95MP0002132_abnormal_respiratory_system1.18247413
96MP0003935_abnormal_craniofacial_develop1.17795998
97MP0001348_abnormal_lacrimal_gland1.16468056
98MP0002111_abnormal_tail_morphology1.16281545
99MP0002084_abnormal_developmental_patter1.16191203
100MP0000751_myopathy1.14560712
101MP0002085_abnormal_embryonic_tissue1.13882252
102MP0002184_abnormal_innervation1.12581570
103MP0000427_abnormal_hair_cycle1.08071283
104MP0005075_abnormal_melanosome_morpholog1.07701629
105MP0005499_abnormal_olfactory_system1.07310433
106MP0005394_taste/olfaction_phenotype1.07310433
107MP0004084_abnormal_cardiac_muscle1.06959781
108MP0009250_abnormal_appendicular_skeleto1.06838755
109MP0001970_abnormal_pain_threshold1.06708360
110MP0003861_abnormal_nervous_system1.03996412
111MP0004859_abnormal_synaptic_plasticity1.01999587
112MP0000383_abnormal_hair_follicle1.01768734
113MP0003121_genomic_imprinting1.01629333
114MP0000432_abnormal_head_morphology1.00685180
115MP0009672_abnormal_birth_weight1.00602808
116MP0002697_abnormal_eye_size0.99551242
117MP0000467_abnormal_esophagus_morphology0.99332677
118MP0003186_abnormal_redox_activity0.99323991
119MP0006035_abnormal_mitochondrial_morpho0.96240868
120MP0005551_abnormal_eye_electrophysiolog0.95615351
121MP0002116_abnormal_craniofacial_bone0.95518007
122MP0005377_hearing/vestibular/ear_phenot0.92863907
123MP0003878_abnormal_ear_physiology0.92863907
124MP0001270_distended_abdomen0.91929812
125MP0000534_abnormal_ureter_morphology0.90949343
126MP0005646_abnormal_pituitary_gland0.90737804
127MP0008995_early_reproductive_senescence0.90732080
128MP0003385_abnormal_body_wall0.90406081
129MP0001299_abnormal_eye_distance/0.90041530
130MP0004947_skin_inflammation0.88830945
131MP0000026_abnormal_inner_ear0.88479770
132MP0001340_abnormal_eyelid_morphology0.87838288
133MP0005253_abnormal_eye_physiology0.87016419
134MP0002233_abnormal_nose_morphology0.86939416
135MP0003195_calcinosis0.86860035
136MP0001963_abnormal_hearing_physiology0.86769981
137MP0005257_abnormal_intraocular_pressure0.84249205
138MP0004197_abnormal_fetal_growth/weight/0.83204473
139MP0004484_altered_response_of0.82239395
140MP0001324_abnormal_eye_pigmentation0.82237352
141MP0002272_abnormal_nervous_system0.81924242
142MP0000955_abnormal_spinal_cord0.81458327
143MP0002752_abnormal_somatic_nervous0.81312644
144MP0009697_abnormal_copulation0.80903627
145MP0001177_atelectasis0.80497512
146MP0002127_abnormal_cardiovascular_syste0.80487212
147MP0000678_abnormal_parathyroid_gland0.80234637
148MP0004085_abnormal_heartbeat0.80058515
149MP0005174_abnormal_tail_pigmentation0.79689308
150MP0009931_abnormal_skin_appearance0.78847096
151MP0001697_abnormal_embryo_size0.77519066
152MP0002277_abnormal_respiratory_mucosa0.77270856
153MP0001672_abnormal_embryogenesis/_devel0.77001222
154MP0005380_embryogenesis_phenotype0.77001222
155MP0001851_eye_inflammation0.76954520
156MP0005620_abnormal_muscle_contractility0.75681698
157MP0008058_abnormal_DNA_repair0.75628895
158MP0005248_abnormal_Harderian_gland0.74502273
159MP0006138_congestive_heart_failure0.73280110
160MP0002067_abnormal_sensory_capabilities0.73114340
161MP0003755_abnormal_palate_morphology0.72380416
162MP0004145_abnormal_muscle_electrophysio0.72113699
163MP0005408_hypopigmentation0.72098067
164MP0002638_abnormal_pupillary_reflex0.71563748
165MP0010030_abnormal_orbit_morphology0.70564330
166MP0004087_abnormal_muscle_fiber0.70135901
167MP0001784_abnormal_fluid_regulation0.69282459
168MP0004272_abnormal_basement_membrane0.69179138
169MP0005385_cardiovascular_system_phenoty0.69147780
170MP0001544_abnormal_cardiovascular_syste0.69147780

Predicted human phenotypes

RankGene SetZ-score
1Ulnar claw (HP:0001178)7.95033183
2Hypotrichosis (HP:0001006)4.97173701
3Septo-optic dysplasia (HP:0100842)4.93699026
4Colon cancer (HP:0003003)4.69937966
5Myokymia (HP:0002411)4.54074882
6Decreased number of large peripheral myelinated nerve fibers (HP:0003387)4.49750346
7Steppage gait (HP:0003376)4.48905991
8Right ventricular cardiomyopathy (HP:0011663)4.48346461
9Ventricular fibrillation (HP:0001663)4.26616120
10Asymmetry of the thorax (HP:0001555)4.24868300
11Double outlet right ventricle (HP:0001719)4.22876202
12Congenital malformation of the right heart (HP:0011723)4.22876202
13Abnormal hair whorl (HP:0010721)4.11309581
14Woolly hair (HP:0002224)4.05997073
15Sudden death (HP:0001699)4.00906626
16Hyporeflexia of lower limbs (HP:0002600)3.77717282
17Segmental peripheral demyelination/remyelination (HP:0003481)3.76374821
18Lip pit (HP:0100267)3.70364976
19Calf muscle hypertrophy (HP:0008981)3.55986867
20Foot dorsiflexor weakness (HP:0009027)3.55485750
21Parakeratosis (HP:0001036)3.54083285
22Onycholysis (HP:0001806)3.49332141
23Curly hair (HP:0002212)3.37914579
24Hyperglycinemia (HP:0002154)3.33462566
25Abnormality of the foot musculature (HP:0001436)3.32291629
26Neuroendocrine neoplasm (HP:0100634)3.31928329
27Increased IgE level (HP:0003212)3.29837763
28Abnormality of the aortic arch (HP:0012303)3.29153409
29Decreased number of peripheral myelinated nerve fibers (HP:0003380)3.22399917
30Rhabdomyosarcoma (HP:0002859)3.18424363
31Muscle hypertrophy of the lower extremities (HP:0008968)3.16425972
32Macrocytic anemia (HP:0001972)3.13757023
33Pheochromocytoma (HP:0002666)3.13296869
34Popliteal pterygium (HP:0009756)3.12172961
35Ectopic anus (HP:0004397)3.06511829
36Anal stenosis (HP:0002025)3.02184802
37Areflexia of lower limbs (HP:0002522)2.99735323
38Ventricular tachycardia (HP:0004756)2.96769953
39Long nose (HP:0003189)2.95434409
40Vitreoretinal degeneration (HP:0000655)2.93980489
41Partial agenesis of the corpus callosum (HP:0001338)2.92639697
42Abnormality of homocysteine metabolism (HP:0010919)2.88976239
43Homocystinuria (HP:0002156)2.88976239
44Neoplasm of striated muscle (HP:0009728)2.86004051
45Stenosis of the external auditory canal (HP:0000402)2.85519723
46Broad thumb (HP:0011304)2.83059960
47Poor head control (HP:0002421)2.82684344
48Hepatoblastoma (HP:0002884)2.77758868
49Nasal speech (HP:0001611)2.75220055
50Conjunctival hamartoma (HP:0100780)2.72033018
51Anteriorly placed anus (HP:0001545)2.69884302
52Rectovaginal fistula (HP:0000143)2.67108997
53Rectal fistula (HP:0100590)2.67108997
54Generalized hypotonia (HP:0001290)2.66021148
55Abnormality of purine metabolism (HP:0004352)2.62608262
56Decreased motor nerve conduction velocity (HP:0003431)2.59883856
57Distal lower limb muscle weakness (HP:0009053)2.59645760
58Exercise-induced myalgia (HP:0003738)2.59623565
59Abnormality of the fetal cardiovascular system (HP:0010948)2.56807276
60Abnormal umbilical cord blood vessels (HP:0011403)2.56807276
61Single umbilical artery (HP:0001195)2.56807276
62Concave nail (HP:0001598)2.55881613
63Cutaneous finger syndactyly (HP:0010554)2.53693464
64Diastasis recti (HP:0001540)2.46534784
65Chorioretinal atrophy (HP:0000533)2.46206720
66Hammertoe (HP:0001765)2.44046678
67Exercise-induced muscle cramps (HP:0003710)2.41964664
68Abnormality of cells of the erythroid lineage (HP:0012130)2.41833229
69White forelock (HP:0002211)2.41116217
70Absent septum pellucidum (HP:0001331)2.40186199
71Preauricular pit (HP:0004467)2.39963255
72Periauricular skin pits (HP:0100277)2.39963255
73Optic nerve hypoplasia (HP:0000609)2.36676034
74Methylmalonic acidemia (HP:0002912)2.35892185
75Microvesicular hepatic steatosis (HP:0001414)2.34960838
76Meckel diverticulum (HP:0002245)2.34646994
77Abnormality of the phalanges of the 5th finger (HP:0004213)2.34596229
78Chromosomal breakage induced by crosslinking agents (HP:0003221)2.31948831
79Muscle stiffness (HP:0003552)2.30106780
80Macroorchidism (HP:0000053)2.27398952
81Partial duplication of thumb phalanx (HP:0009944)2.27330328
82Hypoplastic pelvis (HP:0008839)2.25134155
83Abnormal pancreas size (HP:0012094)2.22397671
84Skin pits (HP:0100276)2.22368766
85Patchy hypopigmentation of hair (HP:0011365)2.21864936
86Peripheral hypomyelination (HP:0007182)2.21015960
87Aplasia involving bones of the upper limbs (HP:0009823)2.20855991
88Aplasia of the phalanges of the hand (HP:0009802)2.20855991
89Aplasia involving bones of the extremities (HP:0009825)2.20855991
90Abnormal number of erythroid precursors (HP:0012131)2.20107448
91Triphalangeal thumb (HP:0001199)2.19350612
92Fragile nails (HP:0001808)2.19096434
93Reticulocytopenia (HP:0001896)2.18663158
94Metaphyseal dysplasia (HP:0100255)2.18181048
95Broad phalanges of the hand (HP:0009768)2.16614738
96Abnormality of the ileum (HP:0001549)2.15567686
97Chin dimple (HP:0010751)2.15277310
98Maternal diabetes (HP:0009800)2.15004201
99Partial duplication of the phalanx of hand (HP:0009999)2.14549577
100Hypoplastic heart (HP:0001961)2.13035461
101Vaginal fistula (HP:0004320)2.12751408
102Pili torti (HP:0003777)2.12365896
103Erythema (HP:0010783)2.11548453
104Neoplasm of the peripheral nervous system (HP:0100007)2.11198634
105Narrow nasal bridge (HP:0000446)2.10963682
106Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.09244284
107Cutaneous syndactyly (HP:0012725)2.08963197
108Intestinal fistula (HP:0100819)2.08650151
109Pallor (HP:0000980)2.07990976
110Chromsome breakage (HP:0040012)2.07624228
111Abnormality of the septum pellucidum (HP:0007375)2.07401681
112Febrile seizures (HP:0002373)2.07359884
113Aplasia/Hypoplasia of the breasts (HP:0010311)2.06607769
114Broad finger (HP:0001500)2.05937621
115Ependymoma (HP:0002888)2.05746257
116Ventricular arrhythmia (HP:0004308)2.05742550
117Absent eyebrow (HP:0002223)2.05371391
118Abnormality of serum amino acid levels (HP:0003112)2.03536911
119Termporal pattern (HP:0011008)2.02748801
120Insidious onset (HP:0003587)2.02748801
121Broad hallux (HP:0010055)2.00853824
122Oligodontia (HP:0000677)2.00767360
123Aplasia/Hypoplasia of the nipples (HP:0006709)2.00536864
124Abnormality of methionine metabolism (HP:0010901)2.00364619
125Abnormality of aspartate family amino acid metabolism (HP:0010899)1.98218796
126Delayed closure of the anterior fontanelle (HP:0001476)1.97965964
127Patent foramen ovale (HP:0001655)1.95328138
128Myotonia (HP:0002486)1.95147104
129Syncope (HP:0001279)1.94767069
130Bilateral sensorineural hearing impairment (HP:0008619)1.94588037
131Cholecystitis (HP:0001082)1.93636641
132Abnormal gallbladder physiology (HP:0012438)1.93636641
133Abnormality of the fingertips (HP:0001211)1.93042703
134Distal arthrogryposis (HP:0005684)1.92778922
135Broad phalanx (HP:0006009)1.92592868
136Annular pancreas (HP:0001734)1.91315800
137Broad toe (HP:0001837)1.89974557
138Abnormality of glycine metabolism (HP:0010895)1.89073144
139Abnormality of serine family amino acid metabolism (HP:0010894)1.89073144
140Increased hepatocellular lipid droplets (HP:0006565)1.88035155
141Abnormality of the labia minora (HP:0012880)1.87295322
142Abnormality of the vocal cords (HP:0008777)1.86700178
143Onion bulb formation (HP:0003383)1.86654883
144Megaloblastic anemia (HP:0001889)1.86361625
145Abnormality of the calf musculature (HP:0001430)1.85837202
146Depressed nasal ridge (HP:0000457)1.85695448
147Focal motor seizures (HP:0011153)1.85444244
148Abnormal lung lobation (HP:0002101)1.85444085
149Action tremor (HP:0002345)1.85351871
150Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.84864874
151Aplasia/Hypoplasia of the sternum (HP:0006714)1.84656189
152Supranuclear gaze palsy (HP:0000605)1.83874329
153Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.83084280
154Acute encephalopathy (HP:0006846)1.82935746
155Abnormality of the vitamin B12 metabolism (HP:0004341)1.82919871
156Hypoplastic left heart (HP:0004383)1.82458891
157Mixed hearing impairment (HP:0000410)1.82384219
158Congenital ichthyosiform erythroderma (HP:0007431)1.81525200
159Abnormality of nail color (HP:0100643)1.81397129
160Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.81355718
161Distal sensory impairment (HP:0002936)1.81342553
162Abnormality of the duodenum (HP:0002246)1.80871444
163Broad long bones (HP:0005622)1.80537960
164Breast aplasia (HP:0100783)1.80100060
1653-Methylglutaconic aciduria (HP:0003535)1.80040857
166Truncus arteriosus (HP:0001660)1.78975456
167Atrial fibrillation (HP:0005110)1.78941035
168Anal atresia (HP:0002023)1.76931865
169Adenoma sebaceum (HP:0009720)1.76808279
170Angiofibromas (HP:0010615)1.76808279
171Transposition of the great arteries (HP:0001669)1.76789727
172Abnormal connection of the cardiac segments (HP:0011545)1.76789727
173Abnormal ventriculo-arterial connection (HP:0011563)1.76789727
174Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.76621335
175Aplasia/Hypoplasia of the uvula (HP:0010293)1.76366956
176Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.76004203
177Short 1st metacarpal (HP:0010034)1.76004203
178Abnormality of nucleobase metabolism (HP:0010932)1.74919859
179Palpitations (HP:0001962)1.74746949
180Abnormality of the phalanges of the 2nd finger (HP:0009541)1.74575746
181Morphological abnormality of the middle ear (HP:0008609)1.73972429
182Keratoconus (HP:0000563)1.71146668
183Increased corneal curvature (HP:0100692)1.71146668
184Absent phalangeal crease (HP:0006109)1.71099132
185Primary atrial arrhythmia (HP:0001692)1.68757417
186Increased serum pyruvate (HP:0003542)1.67231364
187Abnormality of glycolysis (HP:0004366)1.67231364
188Palpebral edema (HP:0100540)1.67073535
189Nail dystrophy (HP:0008404)1.66312566
190Prolonged QT interval (HP:0001657)1.65950950
191Breast hypoplasia (HP:0003187)1.64867296
192Abnormality of the musculature of the hand (HP:0001421)1.63149355
193Advanced eruption of teeth (HP:0006288)1.62437187
194Progressive cerebellar ataxia (HP:0002073)1.62428245

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SMG14.98909151
2STK244.26356626
3MAPKAPK33.69126605
4OBSCN3.67828150
5LATS23.64298286
6MINK13.52764465
7BUB13.23490239
8MKNK13.21987441
9STK38L3.10066549
10MST43.09392869
11TSSK63.04438370
12LIMK12.98970079
13VRK22.92100662
14LMTK22.87984000
15NEK12.74897567
16KSR22.47534826
17FER2.47335055
18NEK22.43907731
19NTRK32.31469051
20PLK32.26576553
21PKN12.15033888
22TTK2.14814213
23EPHB22.03872287
24MKNK22.02035465
25VRK12.00877244
26TRPM71.98504440
27STK391.95155812
28MAP3K21.94546831
29BCR1.92293100
30CDC71.76857757
31WNK11.71798348
32NTRK21.62284437
33WNK41.59406887
34DYRK1B1.58276435
35LRRK21.56046157
36MAP3K91.54323762
37TNIK1.53561401
38SCYL21.52217849
39MAP3K121.49260937
40PRKD31.47145272
41MYLK1.39845007
42CDK191.39727145
43RPS6KB21.37803442
44MAPK131.37759047
45PBK1.36304185
46WNK31.31489458
47SRPK11.29834416
48LATS11.29828638
49CAMK11.29497236
50BRSK11.27168910
51PRKD21.26175443
52MAP2K11.24787243
53NTRK11.22619660
54CASK1.18475182
55MAP2K41.17158098
56SIK21.14243875
57TIE11.13958333
58TESK11.13129355
59BRSK21.12628810
60TAF11.12187108
61PLK11.09772991
62MAP3K41.08655059
63MAP3K101.08202501
64SGK21.05876818
65NEK91.05784160
66CHEK21.05107297
67AURKB0.96651935
68TRIM280.95769583
69GRK10.94252754
70KSR10.93653543
71SGK2230.93242471
72SGK4940.93242471
73STK160.92539647
74NUAK10.92378199
75ROCK10.91291808
76PLK20.90615147
77FGFR20.89315077
78STK100.88757735
79PAK20.85503375
80DYRK30.84066188
81TAOK10.83525962
82ERBB30.80053109
83PRKCH0.80020343
84MAP2K70.79447937
85RET0.78587954
86NME20.78238939
87ATR0.77781102
88WEE10.77197083
89MAP3K110.76938203
90PASK0.76354668
91PHKG10.75538768
92PHKG20.75538768
93SIK30.75318787
94ADRBK10.73175191
95NME10.71820931
96PINK10.70094481
97AURKA0.69208572
98RPS6KA20.69206723
99PDGFRA0.67899367
100RPS6KA50.67803003
101TNK20.67521597
102ERBB20.67479770
103FGFR10.67286237
104TYRO30.66774345
105FLT30.66768669
106ROCK20.66171701
107ILK0.64736698
108BRAF0.63352680
109STK30.63021260
110EPHA30.61874019
111PAK60.61566358
112BLK0.58839669
113PIK3CA0.58730612
114ALK0.57835432
115CDC42BPA0.57501682
116CSNK1G10.56846456
117BMPR20.53881378
118DYRK20.53376778
119STK40.52648585
120MUSK0.51029427
121ARAF0.50873928
122PAK30.50338940
123STK380.49861821
124MAP3K30.49507256
125DAPK30.48698938
126PRKCG0.48081856
127CSNK2A20.46830483
128CSNK2A10.46825619
129SGK30.45879576
130CDK50.45067521
131CAMK40.44818573
132INSRR0.44565420
133TGFBR10.43826785
134EPHA40.43717130
135CAMK1D0.43682549
136NLK0.41747886
137PLK40.41539252
138BMPR1B0.41248791
139CCNB10.40734217
140ATM0.39536969
141CDK20.39507055
142ZAK0.39232318
143PRKDC0.38904699
144EIF2AK30.38692521
145BCKDK0.38649617
146ERBB40.38449818
147RPS6KB10.38113580
148KDR0.37885247
149MAP2K20.37602229
150FGFR30.35702222
151PRKD10.35506050
152MAPKAPK50.35270568
153CDK10.34179334
154MAP3K10.33845449
155MAP3K80.33604047
156RPS6KC10.33501143
157RPS6KL10.33501143
158OXSR10.32915178
159CAMK2A0.32732788
160DYRK1A0.30309040
161CDK80.29552690
162NEK60.29372447
163TLK10.28888404
164PTK2B0.27600236
165PRKACA0.27511783
166PRKCQ0.24987042
167CSNK1E0.23339131
168PRKCE0.23217142
169CSNK1G20.22613059
170RPS6KA40.21622453
171CSNK1A10.20904706
172PRKACB0.20678006
173MAPK100.19794030
174MAP3K70.19554337
175PDPK10.19549492
176MAPKAPK20.18976657

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur metabolism_Homo sapiens_hsa009203.55876095
2Cardiac muscle contraction_Homo sapiens_hsa042602.80535532
3DNA replication_Homo sapiens_hsa030302.76716719
4Cysteine and methionine metabolism_Homo sapiens_hsa002702.72530890
5Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.68150371
6Protein export_Homo sapiens_hsa030602.60064148
7Mismatch repair_Homo sapiens_hsa034302.55227893
8Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050142.51503120
9Oxidative phosphorylation_Homo sapiens_hsa001902.42457367
10Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.37522307
11Homologous recombination_Homo sapiens_hsa034402.24013244
12Parkinsons disease_Homo sapiens_hsa050122.21070208
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.16344574
14Spliceosome_Homo sapiens_hsa030402.13522039
15Cyanoamino acid metabolism_Homo sapiens_hsa004601.94324717
16Alzheimers disease_Homo sapiens_hsa050101.82342094
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76340587
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.74732119
19Sulfur relay system_Homo sapiens_hsa041221.74577993
20Olfactory transduction_Homo sapiens_hsa047401.74387411
21Base excision repair_Homo sapiens_hsa034101.73180750
22RNA transport_Homo sapiens_hsa030131.72922572
23Melanogenesis_Homo sapiens_hsa049161.71548001
24Long-term potentiation_Homo sapiens_hsa047201.71024077
25Endometrial cancer_Homo sapiens_hsa052131.68786941
26Oocyte meiosis_Homo sapiens_hsa041141.68261210
27Synaptic vesicle cycle_Homo sapiens_hsa047211.64988284
28Huntingtons disease_Homo sapiens_hsa050161.62789629
29Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.59836648
30RNA degradation_Homo sapiens_hsa030181.57939592
31Propanoate metabolism_Homo sapiens_hsa006401.54715405
32mRNA surveillance pathway_Homo sapiens_hsa030151.52149776
33Glioma_Homo sapiens_hsa052141.50372287
34Thyroid cancer_Homo sapiens_hsa052161.47494541
35Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.47112169
36Fanconi anemia pathway_Homo sapiens_hsa034601.46078709
37GnRH signaling pathway_Homo sapiens_hsa049121.43352481
38Dorso-ventral axis formation_Homo sapiens_hsa043201.42121133
39Hippo signaling pathway_Homo sapiens_hsa043901.40994422
40Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.39300592
41Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.38060237
42Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.34106385
43Gastric acid secretion_Homo sapiens_hsa049711.33865229
44ErbB signaling pathway_Homo sapiens_hsa040121.33196309
45Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.32546609
46Tight junction_Homo sapiens_hsa045301.32404256
47Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.31342482
48Systemic lupus erythematosus_Homo sapiens_hsa053221.31128057
49Nucleotide excision repair_Homo sapiens_hsa034201.29989005
50Basal transcription factors_Homo sapiens_hsa030221.29540812
51Selenocompound metabolism_Homo sapiens_hsa004501.27557792
52Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.27451109
53Dopaminergic synapse_Homo sapiens_hsa047281.26993508
54Basal cell carcinoma_Homo sapiens_hsa052171.26619057
55Biosynthesis of amino acids_Homo sapiens_hsa012301.23951746
56Hedgehog signaling pathway_Homo sapiens_hsa043401.23846420
57Ribosome_Homo sapiens_hsa030101.22689883
58RNA polymerase_Homo sapiens_hsa030201.19408750
59p53 signaling pathway_Homo sapiens_hsa041151.17781585
60Central carbon metabolism in cancer_Homo sapiens_hsa052301.16654272
61Butanoate metabolism_Homo sapiens_hsa006501.16589366
62Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.15605055
63Taste transduction_Homo sapiens_hsa047421.15091470
64Retinol metabolism_Homo sapiens_hsa008301.14804136
65Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.14493256
662-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.11960902
67Vascular smooth muscle contraction_Homo sapiens_hsa042701.10609168
68One carbon pool by folate_Homo sapiens_hsa006701.09536886
69TGF-beta signaling pathway_Homo sapiens_hsa043501.06483658
70Alcoholism_Homo sapiens_hsa050341.06057754
71Estrogen signaling pathway_Homo sapiens_hsa049151.04981241
72Melanoma_Homo sapiens_hsa052181.03318459
73Dilated cardiomyopathy_Homo sapiens_hsa054141.02363072
74Adherens junction_Homo sapiens_hsa045200.99594931
75Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.98314453
76Collecting duct acid secretion_Homo sapiens_hsa049660.98153872
77Purine metabolism_Homo sapiens_hsa002300.96475018
78Cell cycle_Homo sapiens_hsa041100.95723635
79Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.95627806
80Renin secretion_Homo sapiens_hsa049240.95320162
81Neurotrophin signaling pathway_Homo sapiens_hsa047220.94636365
82Non-small cell lung cancer_Homo sapiens_hsa052230.94354787
83Amphetamine addiction_Homo sapiens_hsa050310.94317486
84Circadian entrainment_Homo sapiens_hsa047130.93923426
85Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.91707296
86Fatty acid elongation_Homo sapiens_hsa000620.90686483
87Salivary secretion_Homo sapiens_hsa049700.90626938
88VEGF signaling pathway_Homo sapiens_hsa043700.90572088
89Oxytocin signaling pathway_Homo sapiens_hsa049210.89365912
90Axon guidance_Homo sapiens_hsa043600.89323322
91Cholinergic synapse_Homo sapiens_hsa047250.89175694
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.89076595
93Insulin secretion_Homo sapiens_hsa049110.88723419
94Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.88686502
95Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.88264649
96Glucagon signaling pathway_Homo sapiens_hsa049220.85840093
97Pentose phosphate pathway_Homo sapiens_hsa000300.85156192
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.84148305
99Wnt signaling pathway_Homo sapiens_hsa043100.84136756
100Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.83117881
101cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83074234
102Prostate cancer_Homo sapiens_hsa052150.82028286
103Prolactin signaling pathway_Homo sapiens_hsa049170.80400737
104Pyrimidine metabolism_Homo sapiens_hsa002400.80259369
105Vitamin digestion and absorption_Homo sapiens_hsa049770.79381834
106Aldosterone synthesis and secretion_Homo sapiens_hsa049250.77806195
107cAMP signaling pathway_Homo sapiens_hsa040240.74150892
108Pancreatic cancer_Homo sapiens_hsa052120.74049307
109Serotonergic synapse_Homo sapiens_hsa047260.73997551
110Insulin signaling pathway_Homo sapiens_hsa049100.72521041
111Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.71910012
112Vibrio cholerae infection_Homo sapiens_hsa051100.71783493
113Proteoglycans in cancer_Homo sapiens_hsa052050.71643863
114Long-term depression_Homo sapiens_hsa047300.67901424
115Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.67836214
116Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.66044229
117Carbon metabolism_Homo sapiens_hsa012000.65829390
118Glutathione metabolism_Homo sapiens_hsa004800.65657356
119Sphingolipid signaling pathway_Homo sapiens_hsa040710.64479541
120Calcium signaling pathway_Homo sapiens_hsa040200.64390908
121Ovarian steroidogenesis_Homo sapiens_hsa049130.63264151
122Metabolic pathways_Homo sapiens_hsa011000.63215631
123Pyruvate metabolism_Homo sapiens_hsa006200.62702845
124Phosphatidylinositol signaling system_Homo sapiens_hsa040700.60533533
125Gap junction_Homo sapiens_hsa045400.60275982
126Phototransduction_Homo sapiens_hsa047440.60184341
127Non-homologous end-joining_Homo sapiens_hsa034500.60082949
128Arginine and proline metabolism_Homo sapiens_hsa003300.58955378
129Ras signaling pathway_Homo sapiens_hsa040140.58779871
130Colorectal cancer_Homo sapiens_hsa052100.57280576
131Leukocyte transendothelial migration_Homo sapiens_hsa046700.56922797
132Vitamin B6 metabolism_Homo sapiens_hsa007500.56424504
133Thyroid hormone synthesis_Homo sapiens_hsa049180.56406438
134Nicotine addiction_Homo sapiens_hsa050330.55756871
135Insulin resistance_Homo sapiens_hsa049310.55606793
136Type II diabetes mellitus_Homo sapiens_hsa049300.55091625
137Peroxisome_Homo sapiens_hsa041460.54706228
138Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.53409386
139mTOR signaling pathway_Homo sapiens_hsa041500.51822316
140Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51094230
141Carbohydrate digestion and absorption_Homo sapiens_hsa049730.50211109
142Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.49406718
143Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49279191
144Mineral absorption_Homo sapiens_hsa049780.48370856
145Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.46839170
146Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.46263639
147Tryptophan metabolism_Homo sapiens_hsa003800.44491318
148Glutamatergic synapse_Homo sapiens_hsa047240.44378611
149Rap1 signaling pathway_Homo sapiens_hsa040150.44345311
150Amoebiasis_Homo sapiens_hsa051460.43542570
151Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.42786655
152Proteasome_Homo sapiens_hsa030500.42154995
153Starch and sucrose metabolism_Homo sapiens_hsa005000.41075798
154Galactose metabolism_Homo sapiens_hsa000520.36106861
155Fatty acid degradation_Homo sapiens_hsa000710.34537647
156Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.34431772
157Transcriptional misregulation in cancer_Homo sapiens_hsa052020.33757938
158Fatty acid biosynthesis_Homo sapiens_hsa000610.31353207
159Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.29808100
160Steroid biosynthesis_Homo sapiens_hsa001000.28009086
161Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.27388255
162Tyrosine metabolism_Homo sapiens_hsa003500.27367067
163Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.26733928
164Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.24884446
165beta-Alanine metabolism_Homo sapiens_hsa004100.24824300
166Maturity onset diabetes of the young_Homo sapiens_hsa049500.23848746
167Pentose and glucuronate interconversions_Homo sapiens_hsa000400.20368700
168Primary bile acid biosynthesis_Homo sapiens_hsa001200.20098116
169GABAergic synapse_Homo sapiens_hsa047270.18788763
170Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.15401105
171Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.15255064
172Chemical carcinogenesis_Homo sapiens_hsa052040.15231145

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