LRRC8A

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





Description: This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1hemidesmosome assembly (GO:0031581)6.96221324
2presynaptic membrane assembly (GO:0097105)5.22733554
3postsynaptic membrane organization (GO:0001941)4.90803558
4short-term memory (GO:0007614)4.55655861
5desmosome organization (GO:0002934)4.53109209
6presynaptic membrane organization (GO:0097090)4.30773342
7cell-substrate junction assembly (GO:0007044)4.13450553
8cytoskeletal anchoring at plasma membrane (GO:0007016)4.05088976
9protein localization to endosome (GO:0036010)4.01937628
10neurofilament cytoskeleton organization (GO:0060052)3.99594904
11sympathetic nervous system development (GO:0048485)3.83312539
12positive regulation of protein kinase C signaling (GO:0090037)3.82910112
13negative regulation of dendrite morphogenesis (GO:0050774)3.78587511
14sodium ion export (GO:0071436)3.74843962
15omega-hydroxylase P450 pathway (GO:0097267)3.72550930
16endothelium development (GO:0003158)3.69336947
17retina layer formation (GO:0010842)3.67159669
18peripheral nervous system neuron development (GO:0048935)3.67037877
19protein heterotetramerization (GO:0051290)3.65923530
20limb bud formation (GO:0060174)3.52795361
21negative regulation of chondrocyte differentiation (GO:0032331)3.51544532
22regulation of pigment cell differentiation (GO:0050932)3.44832410
23cell adhesion mediated by integrin (GO:0033627)3.44380246
24glomerulus development (GO:0032835)3.41462408
25negative regulation of dendrite development (GO:2000171)3.40460144
26gap junction assembly (GO:0016264)3.35254691
27dermatan sulfate biosynthetic process (GO:0030208)3.31119041
28negative regulation of homotypic cell-cell adhesion (GO:0034111)3.28823024
29regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.27553102
30skin morphogenesis (GO:0043589)3.21978140
31negative regulation of keratinocyte proliferation (GO:0010839)3.21015495
32atrial cardiac muscle cell action potential (GO:0086014)3.20648676
33facial nerve structural organization (GO:0021612)3.20188742
34negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.19510399
35regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.17579005
36planar cell polarity pathway involved in neural tube closure (GO:0090179)3.17047413
37semaphorin-plexin signaling pathway (GO:0071526)3.16968020
38endocrine hormone secretion (GO:0060986)3.14162612
39adherens junction assembly (GO:0034333)3.13885902
40dermatan sulfate metabolic process (GO:0030205)3.12692993
41bundle of His cell to Purkinje myocyte communication (GO:0086069)3.10474959
42neuronal action potential propagation (GO:0019227)3.08487339
43positive regulation of synapse assembly (GO:0051965)3.08140497
44cellular protein complex localization (GO:0034629)3.07704989
45positive regulation of steroid hormone secretion (GO:2000833)3.07352697
46endocardial cushion morphogenesis (GO:0003203)3.07056578
47regulation of timing of cell differentiation (GO:0048505)3.06182516
48vocalization behavior (GO:0071625)3.05851124
49membrane assembly (GO:0071709)3.05585292
50cellular potassium ion homeostasis (GO:0030007)3.04854487
51dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.04756214
52endodermal cell differentiation (GO:0035987)3.03082062
53neuron cell-cell adhesion (GO:0007158)3.03061263
54spermatid nucleus differentiation (GO:0007289)3.01604496
55synaptic vesicle docking involved in exocytosis (GO:0016081)3.01312975
56cell migration in hindbrain (GO:0021535)3.00522684
57negative regulation of execution phase of apoptosis (GO:1900118)2.99682887
58enteric nervous system development (GO:0048484)2.99194516
59regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.98706702
60cranial nerve structural organization (GO:0021604)2.98290681
61maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.98265385
62myelination in peripheral nervous system (GO:0022011)2.96327153
63peripheral nervous system axon ensheathment (GO:0032292)2.96327153
64regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.96033924
65response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.93777579
66protein complex localization (GO:0031503)2.93027692
67cell-substrate adherens junction assembly (GO:0007045)2.87914435
68focal adhesion assembly (GO:0048041)2.87914435
69regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.86593632
70heart valve formation (GO:0003188)2.86386381
71negative regulation of synaptic transmission, GABAergic (GO:0032229)2.85228834
72mesodermal cell differentiation (GO:0048333)2.84318568
73epithelial cell-cell adhesion (GO:0090136)2.83770507
74paraxial mesoderm development (GO:0048339)2.80824803
75chondrocyte proliferation (GO:0035988)2.80372739
76hippo signaling (GO:0035329)2.78286039
77barbed-end actin filament capping (GO:0051016)2.77758298
78protein retention in ER lumen (GO:0006621)2.77372294
79branch elongation of an epithelium (GO:0060602)2.77316135
80cerebral cortex radially oriented cell migration (GO:0021799)2.76787931
81cell migration involved in sprouting angiogenesis (GO:0002042)2.74854534
82regulation of transforming growth factor beta2 production (GO:0032909)2.73769505
83endothelial cell morphogenesis (GO:0001886)2.73295808
84negative regulation of platelet activation (GO:0010544)2.73164516
85cell differentiation involved in metanephros development (GO:0072202)2.73013661
86interkinetic nuclear migration (GO:0022027)2.70685411
87regulation of development, heterochronic (GO:0040034)2.69714542
88regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.68621867
89substrate-dependent cell migration (GO:0006929)2.65371476
90L-serine transport (GO:0015825)2.64246383
91heart valve morphogenesis (GO:0003179)2.64092228
92melanin metabolic process (GO:0006582)2.63391085
93membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.63152644
94regulation of cardiac muscle cell contraction (GO:0086004)2.62798148
95regulation of cardioblast differentiation (GO:0051890)2.61626449
96cell communication by electrical coupling (GO:0010644)2.61102790
97amino acid import (GO:0043090)2.60953651
98mesenchymal cell development (GO:0014031)2.59683507
99negative regulation of Ras GTPase activity (GO:0034261)2.59342802
100axon extension involved in axon guidance (GO:0048846)2.59342128
101neuron projection extension involved in neuron projection guidance (GO:1902284)2.59342128
102chondroitin sulfate catabolic process (GO:0030207)2.58798551
103blood vessel endothelial cell migration (GO:0043534)2.57918221
104lymph vessel development (GO:0001945)2.56886964
105cardiac chamber formation (GO:0003207)2.56497563
106negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.56282704
107negative regulation of astrocyte differentiation (GO:0048712)2.55669398
108generation of neurons (GO:0048699)2.55409946
109regulation of respiratory system process (GO:0044065)2.55212600
110protein localization to synapse (GO:0035418)2.54921414
111regulation of synapse assembly (GO:0051963)2.54219422
112cell junction assembly (GO:0034329)2.53942493
113limb development (GO:0060173)2.53785498
114appendage development (GO:0048736)2.53785498
115protein maturation by protein folding (GO:0022417)2.51924797
116keratinocyte proliferation (GO:0043616)2.51278217
117negative regulation of myoblast differentiation (GO:0045662)2.51067173
118mechanoreceptor differentiation (GO:0042490)2.50872688
119atrioventricular valve morphogenesis (GO:0003181)2.49365200
120endothelial cell differentiation (GO:0045446)2.49335058
121COPI coating of Golgi vesicle (GO:0048205)2.49234611
122Golgi transport vesicle coating (GO:0048200)2.49234611
123mesenchyme morphogenesis (GO:0072132)2.48604245
124neural crest cell development (GO:0014032)2.48455502
125neurotransmitter uptake (GO:0001504)2.47022870
126retina vasculature morphogenesis in camera-type eye (GO:0061299)2.45986747
127nephron epithelium development (GO:0072009)2.45281095
128negative regulation of catenin import into nucleus (GO:0035414)2.45266025
129ganglion development (GO:0061548)2.45214011
130stress fiber assembly (GO:0043149)2.45192206
131muscle cell migration (GO:0014812)2.45134005
132cardiac right ventricle morphogenesis (GO:0003215)2.45015628
133organ growth (GO:0035265)2.44624706
134calcium-mediated signaling using intracellular calcium source (GO:0035584)2.44174933
135regulation of axon extension involved in axon guidance (GO:0048841)2.43856949
136forebrain neuron development (GO:0021884)2.43619498
137cell junction organization (GO:0034330)2.43601941
138cranial nerve development (GO:0021545)2.43554323
139negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.42774367
140positive regulation of osteoblast proliferation (GO:0033690)2.42336179
141regulation of early endosome to late endosome transport (GO:2000641)2.41361652
142adherens junction organization (GO:0034332)2.41143877
143negative regulation of cell fate specification (GO:0009996)2.39299599
144regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.38639889
145positive regulation of amino acid transport (GO:0051957)2.38297099
146glutamate secretion (GO:0014047)2.38169441
147basement membrane organization (GO:0071711)2.37000314
148regulation of relaxation of muscle (GO:1901077)2.36372747
149negative regulation of protein localization to cell surface (GO:2000009)2.36292002
150regulation of protein kinase C signaling (GO:0090036)2.35716699
151layer formation in cerebral cortex (GO:0021819)2.34773520
152cellular copper ion homeostasis (GO:0006878)2.33505132
153negative regulation of axon extension involved in axon guidance (GO:0048843)2.32098639
154eye photoreceptor cell differentiation (GO:0001754)2.31604863
155photoreceptor cell differentiation (GO:0046530)2.31604863
156negative regulation of systemic arterial blood pressure (GO:0003085)2.29676231
157regulation of platelet aggregation (GO:0090330)2.29650126
158regulation of actin filament-based movement (GO:1903115)2.29046775
159cerebral cortex cell migration (GO:0021795)2.28854439
160somite development (GO:0061053)2.28691713
161Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.28323127
162regulation of protein kinase A signaling (GO:0010738)2.27820207
163melanin biosynthetic process (GO:0042438)2.27798640
164negative regulation of cartilage development (GO:0061037)2.27552390
165lymphangiogenesis (GO:0001946)2.27437735
166protein targeting to plasma membrane (GO:0072661)2.27300112
167neurotransmitter-gated ion channel clustering (GO:0072578)2.27159520
168actin filament bundle organization (GO:0061572)2.26846750
169actin filament bundle assembly (GO:0051017)2.26846750
170cell communication involved in cardiac conduction (GO:0086065)2.26720613
171mating behavior (GO:0007617)2.25374395
172heterochromatin organization (GO:0070828)2.22542499
173heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.22456252
174wound healing, spreading of epidermal cells (GO:0035313)2.21829120
175L-amino acid import (GO:0043092)2.20443267
176apical protein localization (GO:0045176)2.19684832
177axon extension (GO:0048675)2.18450505
178cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.17651376
179convergent extension (GO:0060026)2.16078265
180positive regulation of axon extension (GO:0045773)2.15982046
181endocytic recycling (GO:0032456)2.15957523
182neuron projection extension (GO:1990138)2.15545037
183regulation of establishment of planar polarity (GO:0090175)2.13643620
184cell-cell junction assembly (GO:0007043)2.13549901
185regulation of p38MAPK cascade (GO:1900744)2.13488154
186substrate adhesion-dependent cell spreading (GO:0034446)2.13429670
187cerebellar granule cell differentiation (GO:0021707)2.12228663
188apoptotic cell clearance (GO:0043277)2.11237058
189cerebellar Purkinje cell layer development (GO:0021680)2.11210491
190response to hepatocyte growth factor (GO:0035728)2.10909192
191cellular response to hepatocyte growth factor stimulus (GO:0035729)2.10909192
192cell-cell junction organization (GO:0045216)2.10645195
193notochord development (GO:0030903)2.10431919
194regulation of catenin import into nucleus (GO:0035412)2.10092604

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human6.94573684
2EZH2_22144423_ChIP-Seq_EOC_Human4.23317190
3GBX2_23144817_ChIP-Seq_PC3_Human3.48736220
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.12109405
5SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.05655645
6RARG_19884340_ChIP-ChIP_MEFs_Mouse2.93263609
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.85351427
8EED_16625203_ChIP-ChIP_MESCs_Mouse2.82462708
9SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.71297397
10SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.66343696
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.66339016
12CLOCK_20551151_ChIP-Seq_293T_Human2.63009855
13ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.60725641
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.59388306
15AR_21572438_ChIP-Seq_LNCaP_Human2.53981297
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.49660648
17NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.45652230
18EZH2_18974828_ChIP-Seq_MESCs_Mouse2.45553547
19RNF2_18974828_ChIP-Seq_MESCs_Mouse2.45553547
20JARID2_20075857_ChIP-Seq_MESCs_Mouse2.38799095
21SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.34575920
22PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.33033278
23TAF15_26573619_Chip-Seq_HEK293_Human2.27924875
24ESR2_21235772_ChIP-Seq_MCF-7_Human2.26427829
25BMI1_23680149_ChIP-Seq_NPCS_Mouse2.20459523
26POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.18834147
27NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.17793395
28TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.17521556
29ZFP57_27257070_Chip-Seq_ESCs_Mouse2.17029540
30WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.16868026
31ZFP281_18757296_ChIP-ChIP_E14_Mouse2.15283739
32CBX2_27304074_Chip-Seq_ESCs_Mouse2.06848152
33RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.01417970
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.97134952
35EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.96571369
36CDX2_19796622_ChIP-Seq_MESCs_Mouse1.95551668
37GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.94854662
38PIAS1_25552417_ChIP-Seq_VCAP_Human1.92631536
39RNF2_27304074_Chip-Seq_ESCs_Mouse1.91741122
40SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.91495791
41* ELK3_25401928_ChIP-Seq_HUVEC_Human1.90515977
42EZH2_27294783_Chip-Seq_ESCs_Mouse1.88544595
43RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.88383569
44GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87227865
45UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.81405067
46THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.81341636
47SUZ12_27294783_Chip-Seq_ESCs_Mouse1.80889542
48P300_19829295_ChIP-Seq_ESCs_Human1.79407454
49MTF2_20144788_ChIP-Seq_MESCs_Mouse1.78807301
50P300_27058665_Chip-Seq_ZR-75-30cells_Human1.77876583
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.77488575
52FLI1_27457419_Chip-Seq_LIVER_Mouse1.76957738
53POU5F1_16153702_ChIP-ChIP_HESCs_Human1.76776531
54* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.75926121
55* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.75926121
56AR_21909140_ChIP-Seq_LNCAP_Human1.75692331
57PCGF2_27294783_Chip-Seq_ESCs_Mouse1.75622532
58KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.73498062
59STAT6_21828071_ChIP-Seq_BEAS2B_Human1.72739421
60RNF2_27304074_Chip-Seq_NSC_Mouse1.71966493
61CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.70928302
62HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.69637047
63CTBP2_25329375_ChIP-Seq_LNCAP_Human1.69443861
64SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.69288179
65ERG_21242973_ChIP-ChIP_JURKAT_Human1.65866736
66TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.65724546
67KDM2B_26808549_Chip-Seq_K562_Human1.65353747
68TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.65332378
69* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.64138531
70NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.63052346
71SOX9_24532713_ChIP-Seq_HFSC_Mouse1.62603529
72POU3F2_20337985_ChIP-ChIP_501MEL_Human1.60929876
73WT1_19549856_ChIP-ChIP_CCG9911_Human1.58270536
74KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.54811719
75RACK7_27058665_Chip-Seq_MCF-7_Human1.54736341
76* SMAD4_21799915_ChIP-Seq_A2780_Human1.54351745
77SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.53564436
78SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.53143364
79ZNF263_19887448_ChIP-Seq_K562_Human1.53015546
80TRIM28_21343339_ChIP-Seq_HEK293_Human1.52289490
81CTBP1_25329375_ChIP-Seq_LNCAP_Human1.51534088
82ZFP281_27345836_Chip-Seq_ESCs_Mouse1.50342784
83HIF1A_21447827_ChIP-Seq_MCF-7_Human1.49325559
84SMAD3_21741376_ChIP-Seq_EPCs_Human1.45885923
85TCF3_18692474_ChIP-Seq_MEFs_Mouse1.44494918
86KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.43709207
87SUZ12_27294783_Chip-Seq_NPCs_Mouse1.43370998
88TOP2B_26459242_ChIP-Seq_MCF-7_Human1.43132825
89ATF3_27146783_Chip-Seq_COLON_Human1.42336540
90EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.42112967
91ZNF217_24962896_ChIP-Seq_MCF-7_Human1.41331573
92BCAT_22108803_ChIP-Seq_LS180_Human1.41029255
93UBF1/2_26484160_Chip-Seq_HMECs_Human1.39857723
94ESR1_20079471_ChIP-ChIP_T-47D_Human1.39339141
95ESR1_21235772_ChIP-Seq_MCF-7_Human1.39178621
96* LXR_22292898_ChIP-Seq_THP-1_Human1.36349292
97SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34638649
98TET1_21490601_ChIP-Seq_MESCs_Mouse1.34558992
99TP53_18474530_ChIP-ChIP_U2OS_Human1.34495759
100PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.32203088
101VDR_22108803_ChIP-Seq_LS180_Human1.32199548
102AHR_22903824_ChIP-Seq_MCF-7_Human1.31583599
103TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.31538113
104KDM2B_26808549_Chip-Seq_SUP-B15_Human1.30526988
105OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30138697
106NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.29378090
107ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.28542870
108SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26013481
109EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.25730384
110UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.25278650
111NANOG_18555785_Chip-Seq_ESCs_Mouse1.25081793
112TP53_20018659_ChIP-ChIP_R1E_Mouse1.23786864
113IGF1R_20145208_ChIP-Seq_DFB_Human1.23536999
114AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.23508697
115E2F1_18555785_Chip-Seq_ESCs_Mouse1.23322881
116EP300_21415370_ChIP-Seq_HL-1_Mouse1.23297593
117NFE2_27457419_Chip-Seq_LIVER_Mouse1.21834817
118AR_25329375_ChIP-Seq_VCAP_Human1.21504956
119TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21291832
120TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.21161107
121CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20220870
122RUNX2_22187159_ChIP-Seq_PCA_Human1.20098127
123TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.19840874
124P63_26484246_Chip-Seq_KERATINOCYTES_Human1.18755569
125NR3C1_21868756_ChIP-Seq_MCF10A_Human1.18136118
126PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.18119357
127* EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.17973660
128EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.17819868
129DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.17170474
130NFIB_24661679_ChIP-Seq_LUNG_Mouse1.17018892
131ARNT_22903824_ChIP-Seq_MCF-7_Human1.16717288
132MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.16512912
133FOXM1_23109430_ChIP-Seq_U2OS_Human1.16316577
134PCGF2_27294783_Chip-Seq_NPCs_Mouse1.16186073
135CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.15452121
136SUZ12_18555785_Chip-Seq_ESCs_Mouse1.13626898
137EZH2_27294783_Chip-Seq_NPCs_Mouse1.12536432
138P53_22387025_ChIP-Seq_ESCs_Mouse1.10943895
139ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.10410844
140FUS_26573619_Chip-Seq_HEK293_Human1.10058337
141TBX20_22328084_ChIP-Seq_HEART_Mouse1.09515769
142TBX20_22080862_ChIP-Seq_HEART_Mouse1.09515769
143RING1B_27294783_Chip-Seq_ESCs_Mouse1.09340042
144ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.09122792
145P300_18555785_Chip-Seq_ESCs_Mouse1.09111814
146* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.08868860
147RING1B_27294783_Chip-Seq_NPCs_Mouse1.08801968
148FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.07966165
149CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.07884702
150* EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.06874348
151ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.06428169
152STAT3_18555785_Chip-Seq_ESCs_Mouse1.06319296
153NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.06248436
154NMYC_18555785_Chip-Seq_ESCs_Mouse1.05695782
155TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05392731
156RARB_27405468_Chip-Seq_BRAIN_Mouse1.05230130
157OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.04252750
158MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.03596183
159* GATA2_21666600_ChIP-Seq_HMVEC_Human1.02909214
160ER_23166858_ChIP-Seq_MCF-7_Human1.02700210
161CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.02504814
162CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.02235292
163ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.02092124
164STAT3_23295773_ChIP-Seq_U87_Human1.01853883
165TP53_22127205_ChIP-Seq_IMR90_Human1.01401616
166TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01083284
167CMYC_18555785_Chip-Seq_ESCs_Mouse1.00806505
168* PRDM14_20953172_ChIP-Seq_ESCs_Human1.00523976
169ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.00326333
170* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.99987584
171* TP53_23651856_ChIP-Seq_MEFs_Mouse0.99769392
172TCF3_18692474_ChIP-Seq_MESCs_Mouse0.98963499
173MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98349195
174REST_21632747_ChIP-Seq_MESCs_Mouse0.98322901
175KDM2B_26808549_Chip-Seq_REH_Human0.96475195
176JUN_21703547_ChIP-Seq_K562_Human0.95974964
177SRY_22984422_ChIP-ChIP_TESTIS_Rat0.95674505
178OCT4_18692474_ChIP-Seq_MEFs_Mouse0.95303464
179SOX2_18692474_ChIP-Seq_MEFs_Mouse0.94857519
180SOX2_27498859_Chip-Seq_STOMACH_Mouse0.94164931
181NANOG_18555785_ChIP-Seq_MESCs_Mouse0.92538529
182NANOG_18692474_ChIP-Seq_MEFs_Mouse0.92468417
183KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.91893808
184CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91552870
185SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.91517253
186NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.91344331
187DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.91301835
188FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.91128018
189NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.90204432
190FOXO3_23340844_ChIP-Seq_DLD1_Human0.90133144
191PPAR_26484153_Chip-Seq_NCI-H1993_Human0.90028549
192EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.89625872

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color5.37345121
2MP0001188_hyperpigmentation4.40545833
3MP0005409_darkened_coat_color4.12296302
4MP0003705_abnormal_hypodermis_morpholog4.05873906
5MP0003566_abnormal_cell_adhesion3.78223747
6MP0009379_abnormal_foot_pigmentation3.67835428
7MP0000566_synostosis2.77561750
8MP0004381_abnormal_hair_follicle2.64144336
9MP0005171_absent_coat_pigmentation2.61514360
10MP0010030_abnormal_orbit_morphology2.51444954
11MP0006292_abnormal_olfactory_placode2.43878868
12MP0001986_abnormal_taste_sensitivity2.41445339
13MP0001849_ear_inflammation2.37552738
14MP0006276_abnormal_autonomic_nervous2.36867967
15MP0005623_abnormal_meninges_morphology2.23881961
16MP0003880_abnormal_central_pattern2.14649763
17MP0002796_impaired_skin_barrier2.08695373
18MP0000015_abnormal_ear_pigmentation2.07220916
19MP0002060_abnormal_skin_morphology2.04027187
20MP0002735_abnormal_chemical_nociception1.99362177
21MP0000537_abnormal_urethra_morphology1.95702446
22MP0004859_abnormal_synaptic_plasticity1.90412930
23MP0005503_abnormal_tendon_morphology1.87013305
24MP0000467_abnormal_esophagus_morphology1.86857810
25MP0009046_muscle_twitch1.83878636
26MP0009250_abnormal_appendicular_skeleto1.83435037
27MP0005023_abnormal_wound_healing1.82983963
28MP0010234_abnormal_vibrissa_follicle1.82814666
29MP0005646_abnormal_pituitary_gland1.80328389
30MP0009053_abnormal_anal_canal1.79967568
31MP0000049_abnormal_middle_ear1.76975360
32MP0009780_abnormal_chondrocyte_physiolo1.75172635
33MP0005275_abnormal_skin_tensile1.72882050
34MP0002751_abnormal_autonomic_nervous1.70741433
35MP0001879_abnormal_lymphatic_vessel1.67202047
36MP0001968_abnormal_touch/_nociception1.66407844
37MP0004270_analgesia1.64455266
38MP0008260_abnormal_autophagy1.63071152
39MP0003453_abnormal_keratinocyte_physiol1.61918970
40MP0003950_abnormal_plasma_membrane1.60899872
41MP0009384_cardiac_valve_regurgitation1.56912526
42MP0001486_abnormal_startle_reflex1.51261323
43MP0003011_delayed_dark_adaptation1.50779214
44MP0003091_abnormal_cell_migration1.50421172
45MP0002638_abnormal_pupillary_reflex1.47283617
46MP0003329_amyloid_beta_deposits1.44770638
47MP0005501_abnormal_skin_physiology1.43445860
48MP0002877_abnormal_melanocyte_morpholog1.43434837
49MP0002089_abnormal_postnatal_growth/wei1.41146751
50MP0000751_myopathy1.39953544
51MP0002734_abnormal_mechanical_nocicepti1.37856130
52MP0010352_gastrointestinal_tract_polyps1.37051500
53MP0004272_abnormal_basement_membrane1.35076091
54MP0002067_abnormal_sensory_capabilities1.34579241
55MP0000026_abnormal_inner_ear1.33245164
56MP0002177_abnormal_outer_ear1.32661932
57MP0003279_aneurysm1.32558101
58MP0001915_intracranial_hemorrhage1.32356354
59MP0010368_abnormal_lymphatic_system1.29456615
60MP0002249_abnormal_larynx_morphology1.28963873
61MP0003724_increased_susceptibility_to1.28563445
62MP0005174_abnormal_tail_pigmentation1.25014525
63MP0000678_abnormal_parathyroid_gland1.24417487
64MP0005423_abnormal_somatic_nervous1.23658224
65MP0009840_abnormal_foam_cell1.22364331
66MP0009672_abnormal_birth_weight1.22356812
67MP0010771_integument_phenotype1.20764348
68MP0004142_abnormal_muscle_tone1.19595682
69MP0004233_abnormal_muscle_weight1.19312562
70MP0000372_irregular_coat_pigmentation1.18595807
71MP0003123_paternal_imprinting1.16902622
72MP0005595_abnormal_vascular_smooth1.14335319
73MP0002160_abnormal_reproductive_system1.12709001
74MP0004858_abnormal_nervous_system1.12527207
75MP0001216_abnormal_epidermal_layer1.11883009
76MP0003938_abnormal_ear_development1.11671115
77MP0000778_abnormal_nervous_system1.10848033
78MP0000767_abnormal_smooth_muscle1.10818312
79MP0005084_abnormal_gallbladder_morpholo1.10678083
80MP0002254_reproductive_system_inflammat1.09483581
81MP0006138_congestive_heart_failure1.07551952
82MP0004484_altered_response_of1.07292985
83MP0002272_abnormal_nervous_system1.06770343
84MP0001963_abnormal_hearing_physiology1.03663221
85MP0003315_abnormal_perineum_morphology1.03073073
86MP0002876_abnormal_thyroid_physiology1.01609743
87MP0001919_abnormal_reproductive_system1.01476157
88MP0000534_abnormal_ureter_morphology1.01064307
89MP0003828_pulmonary_edema1.00263012
90MP0003191_abnormal_cellular_cholesterol0.99904143
91MP0009745_abnormal_behavioral_response0.99771873
92MP0002557_abnormal_social/conspecific_i0.99661843
93MP0001970_abnormal_pain_threshold0.99132086
94MP0002896_abnormal_bone_mineralization0.98945833
95MP0000462_abnormal_digestive_system0.98547739
96MP0003755_abnormal_palate_morphology0.98258337
97MP0001730_embryonic_growth_arrest0.97912991
98MP0003385_abnormal_body_wall0.97456353
99MP0002184_abnormal_innervation0.96770975
100MP0001177_atelectasis0.96269177
101MP0004147_increased_porphyrin_level0.94987642
102MP0002697_abnormal_eye_size0.93621156
103MP0002752_abnormal_somatic_nervous0.92933388
104MP0005165_increased_susceptibility_to0.92383296
105MP0003119_abnormal_digestive_system0.91341211
106MP0003634_abnormal_glial_cell0.91088754
107MP0001905_abnormal_dopamine_level0.90459277
108MP0005248_abnormal_Harderian_gland0.89336904
109MP0000749_muscle_degeneration0.88857686
110MP0002572_abnormal_emotion/affect_behav0.88506865
111MP0000432_abnormal_head_morphology0.88358782
112MP0004883_abnormal_blood_vessel0.87269875
113MP0004742_abnormal_vestibular_system0.87202727
114MP0002736_abnormal_nociception_after0.85728573
115MP0002098_abnormal_vibrissa_morphology0.85520889
116MP0002972_abnormal_cardiac_muscle0.85482961
117MP0003937_abnormal_limbs/digits/tail_de0.85453357
118MP0001958_emphysema0.85348758
119MP0004885_abnormal_endolymph0.84880151
120MP0008569_lethality_at_weaning0.84828355
121MP0003935_abnormal_craniofacial_develop0.84267073
122MP0002733_abnormal_thermal_nociception0.83828038
123MP0000377_abnormal_hair_follicle0.83592724
124MP0001340_abnormal_eyelid_morphology0.83164627
125MP0008789_abnormal_olfactory_epithelium0.83141088
126MP0002095_abnormal_skin_pigmentation0.82858914
127MP0005621_abnormal_cell_physiology0.82812714
128MP0003635_abnormal_synaptic_transmissio0.82772543
129MP0004215_abnormal_myocardial_fiber0.82406173
130MP0002085_abnormal_embryonic_tissue0.82365010
131MP0003941_abnormal_skin_development0.82162325
132MP0003646_muscle_fatigue0.81774735
133MP0001299_abnormal_eye_distance/0.81728429
134MP0005508_abnormal_skeleton_morphology0.80579128
135MP0004085_abnormal_heartbeat0.80418255
136MP0003137_abnormal_impulse_conducting0.80219522
137MP0000579_abnormal_nail_morphology0.80116470
138MP0002084_abnormal_developmental_patter0.79396404
139MP0002064_seizures0.79161963
140MP0000631_abnormal_neuroendocrine_gland0.79098448
141MP0000428_abnormal_craniofacial_morphol0.78896281
142MP0002234_abnormal_pharynx_morphology0.78106633
143MP0005257_abnormal_intraocular_pressure0.77742450
144MP0008438_abnormal_cutaneous_collagen0.77627544
145MP0001346_abnormal_lacrimal_gland0.77568887
146MP0002295_abnormal_pulmonary_circulatio0.76493735
147MP0001542_abnormal_bone_strength0.76318881
148MP0000762_abnormal_tongue_morphology0.75993481
149MP0003718_maternal_effect0.75405012
150MP0002127_abnormal_cardiovascular_syste0.74751867
151MP0001485_abnormal_pinna_reflex0.74428286
152MP0002111_abnormal_tail_morphology0.73771145
153MP0002116_abnormal_craniofacial_bone0.73730223
154MP0005197_abnormal_uvea_morphology0.72579883
155MP0003861_abnormal_nervous_system0.72506381
156MP0004264_abnormal_extraembryonic_tissu0.72396276
157MP0005380_embryogenesis_phenotype0.72190242
158MP0001672_abnormal_embryogenesis/_devel0.72190242
159MP0002938_white_spotting0.71900870
160MP0005076_abnormal_cell_differentiation0.71883287
161MP0000920_abnormal_myelination0.70816492
162MP0002925_abnormal_cardiovascular_devel0.68712363
163MP0002233_abnormal_nose_morphology0.68644956
164MP0003890_abnormal_embryonic-extraembry0.67363588
165MP0001614_abnormal_blood_vessel0.67249787
166MP0002086_abnormal_extraembryonic_tissu0.65072425
167MP0005193_abnormal_anterior_eye0.64371557

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of secondary sexual hair (HP:0009888)5.80980245
2Abnormality of the axillary hair (HP:0100134)5.80980245
3Sex reversal (HP:0012245)5.35242448
4Abnormal sex determination (HP:0012244)5.35242448
5Atrophic scars (HP:0001075)4.40336042
6Premature rupture of membranes (HP:0001788)3.80111445
7Febrile seizures (HP:0002373)3.67234060
8Milia (HP:0001056)3.50756485
9Hypoplastic left heart (HP:0004383)3.40361387
10Aplasia involving bones of the upper limbs (HP:0009823)3.36856726
11Aplasia of the phalanges of the hand (HP:0009802)3.36856726
12Aplasia involving bones of the extremities (HP:0009825)3.36856726
13Hypothermia (HP:0002045)3.34542932
14Protrusio acetabuli (HP:0003179)3.33401098
15Arterial tortuosity (HP:0005116)3.27875529
16Onycholysis (HP:0001806)3.27384421
17Shallow orbits (HP:0000586)3.26473450
18Submucous cleft hard palate (HP:0000176)3.25779184
19Fragile nails (HP:0001808)3.24307230
20Abnormality of the nasal septum (HP:0000419)3.23057390
21Focal motor seizures (HP:0011153)3.22618004
22Abnormality of nail color (HP:0100643)3.19973380
23Bradycardia (HP:0001662)3.18360742
24Vascular tortuosity (HP:0004948)3.08008917
25Thick nail (HP:0001805)3.01595204
26Short tibia (HP:0005736)2.98077944
27Optic nerve hypoplasia (HP:0000609)2.90250734
28Ulnar claw (HP:0001178)2.87916720
29Sleep apnea (HP:0010535)2.85097983
30Fragile skin (HP:0001030)2.84419532
31Aplasia/Hypoplasia of the tibia (HP:0005772)2.81412741
32Hyperacusis (HP:0010780)2.79043036
33Neurofibrillary tangles (HP:0002185)2.76763654
34Hypoplastic heart (HP:0001961)2.68345864
35Plantar hyperkeratosis (HP:0007556)2.65632877
36Obstructive sleep apnea (HP:0002870)2.64233527
37Cerebral aneurysm (HP:0004944)2.61280792
38Selective tooth agenesis (HP:0001592)2.61205433
39Insomnia (HP:0100785)2.61114672
40Ulnar bowing (HP:0003031)2.58175558
41Pulmonary artery stenosis (HP:0004415)2.55323426
42Natal tooth (HP:0000695)2.54981851
43Optic disc pallor (HP:0000543)2.53736139
44Short nail (HP:0001799)2.52071375
45Ankyloglossia (HP:0010296)2.51925267
46Cerebral inclusion bodies (HP:0100314)2.48737177
47Spinal rigidity (HP:0003306)2.47389201
48Nasolacrimal duct obstruction (HP:0000579)2.44822581
49Pterygium (HP:0001059)2.41554079
50Septo-optic dysplasia (HP:0100842)2.40397053
51Right ventricular cardiomyopathy (HP:0011663)2.40141329
52Upper limb amyotrophy (HP:0009129)2.39857122
53Distal upper limb amyotrophy (HP:0007149)2.39857122
54Atrial fibrillation (HP:0005110)2.35102865
55Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.34290606
56Nail dystrophy (HP:0008404)2.32989479
57Lower limb amyotrophy (HP:0007210)2.29720978
58Abnormality of incisor morphology (HP:0011063)2.29427747
59Arnold-Chiari malformation (HP:0002308)2.28621720
60Bile duct proliferation (HP:0001408)2.26267126
61Abnormal biliary tract physiology (HP:0012439)2.26267126
62Alacrima (HP:0000522)2.26239366
63Humeroradial synostosis (HP:0003041)2.25997261
64Synostosis involving the elbow (HP:0003938)2.25997261
65Dry hair (HP:0011359)2.23988074
66Advanced eruption of teeth (HP:0006288)2.23517591
67Abnormal ciliary motility (HP:0012262)2.22799923
68Atonic seizures (HP:0010819)2.21590954
69Aplasia cutis congenita (HP:0001057)2.19030208
70Abnormality of the phalanges of the hallux (HP:0010057)2.18339077
71Abnormality of the lacrimal duct (HP:0011481)2.16688223
72Vertebral arch anomaly (HP:0008438)2.16294644
73Abnormal hair whorl (HP:0010721)2.15704603
74Alopecia of scalp (HP:0002293)2.15161370
75Midline defect of the nose (HP:0004122)2.13858161
76True hermaphroditism (HP:0010459)2.12150738
77Overgrowth (HP:0001548)2.11788453
78Narrow nasal bridge (HP:0000446)2.11732372
79Adrenal hypoplasia (HP:0000835)2.11660917
80Median cleft lip (HP:0000161)2.11599124
81Primary atrial arrhythmia (HP:0001692)2.11130556
82Abnormality of oral frenula (HP:0000190)2.10399595
83Abnormality of the nasolacrimal system (HP:0000614)2.10215404
84Broad face (HP:0000283)2.09631844
85Slow-growing hair (HP:0002217)2.09549585
86Abnormality of hair growth rate (HP:0011363)2.09549585
87Absent septum pellucidum (HP:0001331)2.09059237
88Abnormality of the septum pellucidum (HP:0007375)2.08084005
89Tracheomalacia (HP:0002779)2.07763636
90Cervical subluxation (HP:0003308)2.07584652
91Bladder diverticulum (HP:0000015)2.06765475
92Short hallux (HP:0010109)2.01613178
93Thyroid-stimulating hormone excess (HP:0002925)2.00866446
94Bronchomalacia (HP:0002780)2.00400943
95Corneal dystrophy (HP:0001131)2.00342700
96Abnormality of the pulmonary veins (HP:0011718)1.99842767
97Hypoplasia of dental enamel (HP:0006297)1.98008643
98Distal lower limb amyotrophy (HP:0008944)1.97443372
99Male pseudohermaphroditism (HP:0000037)1.96491551
100Hand muscle atrophy (HP:0009130)1.95306193
101Joint hemorrhage (HP:0005261)1.94907147
102Progressive cerebellar ataxia (HP:0002073)1.94723849
103Split foot (HP:0001839)1.94273355
104Supraventricular tachycardia (HP:0004755)1.93815362
105Absent/shortened dynein arms (HP:0200106)1.92719478
106Dynein arm defect of respiratory motile cilia (HP:0012255)1.92719478
107Aortic dissection (HP:0002647)1.92350121
108Distal lower limb muscle weakness (HP:0009053)1.92265631
109Ankle contracture (HP:0006466)1.91668181
110Long palpebral fissure (HP:0000637)1.91646075
111Broad metatarsal (HP:0001783)1.91508872
112Wormian bones (HP:0002645)1.91504399
113Craniofacial hyperostosis (HP:0004493)1.91447072
114Supraventricular arrhythmia (HP:0005115)1.89967619
115Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.88584104
116Limited hip movement (HP:0008800)1.88535381
117Steppage gait (HP:0003376)1.88425475
118Cutaneous syndactyly (HP:0012725)1.87964011
119Long nose (HP:0003189)1.87100391
120Palmoplantar hyperkeratosis (HP:0000972)1.86543236
121Overriding aorta (HP:0002623)1.85648506
122Difficulty climbing stairs (HP:0003551)1.85453503
123Laryngomalacia (HP:0001601)1.84733649
124Vertebral clefting (HP:0008428)1.83736127
125Germ cell neoplasia (HP:0100728)1.83622777
126Abnormality of molar (HP:0011077)1.83394599
127Abnormality of molar morphology (HP:0011070)1.83394599
128Abnormality of carpal bone ossification (HP:0006257)1.83271168
129Abnormality of the phalanges of the 5th finger (HP:0004213)1.83186100
130Achilles tendon contracture (HP:0001771)1.82642852
131Cutaneous finger syndactyly (HP:0010554)1.82541344
132Focal seizures (HP:0007359)1.81526794
133Absent speech (HP:0001344)1.80918664
134Palmar hyperkeratosis (HP:0010765)1.79134503
135Increased connective tissue (HP:0009025)1.79015906
136Gonadal dysgenesis (HP:0000133)1.78466083
137Anomalous pulmonary venous return (HP:0010772)1.78190356
138Supranuclear gaze palsy (HP:0000605)1.76565478
139Hemiparesis (HP:0001269)1.75715755
140Decreased lacrimation (HP:0000633)1.75463008
141Osteolytic defects of the phalanges of the hand (HP:0009771)1.74659779
142Osteolytic defects of the hand bones (HP:0009699)1.74659779
143Spastic diplegia (HP:0001264)1.74635563
144Renal duplication (HP:0000075)1.74616591
145Cranial hyperostosis (HP:0004437)1.74558917
146Disproportionate tall stature (HP:0001519)1.74173441
147Abnormality of the salivary glands (HP:0010286)1.73721730
148Alveolar cell carcinoma (HP:0006519)1.73432746
149Esotropia (HP:0000565)1.72949942
150Back pain (HP:0003418)1.72535864
151Aplasia/Hypoplasia of the hallux (HP:0008362)1.72384814
152Epileptic encephalopathy (HP:0200134)1.72295472
153Limb dystonia (HP:0002451)1.71620296
154Abnormality of dental color (HP:0011073)1.71032673
155Abnormal respiratory motile cilium physiology (HP:0012261)1.70721012
156Mitral regurgitation (HP:0001653)1.70316822
157Aortic aneurysm (HP:0004942)1.69998114
158Blue sclerae (HP:0000592)1.69618424
159Hypophosphatemic rickets (HP:0004912)1.69403216
160Abnormality of the lower motor neuron (HP:0002366)1.69376153
161Attenuation of retinal blood vessels (HP:0007843)1.69238205
162Megalencephaly (HP:0001355)1.68738167
163Increased corneal curvature (HP:0100692)1.68383551
164Keratoconus (HP:0000563)1.68383551
165Recurrent corneal erosions (HP:0000495)1.67974795
166Absent eyelashes (HP:0000561)1.67960570
167Renal tubular dysfunction (HP:0000124)1.67392189
168Abnormal ossification of hand bones (HP:0005921)1.67265946
169Bowel diverticulosis (HP:0005222)1.66190922
170Abnormality of dentin (HP:0010299)1.66175946
171Coronal craniosynostosis (HP:0004440)1.63945137
172Abnormality of the calf musculature (HP:0001430)1.63852138
173Relative macrocephaly (HP:0004482)1.63623105
174Abnormal blistering of the skin (HP:0008066)1.63446557
175Mitral valve prolapse (HP:0001634)1.62228881
176Abnormality of the Achilles tendon (HP:0005109)1.61507145
177Urethral obstruction (HP:0000796)1.60436883
178Wrist flexion contracture (HP:0001239)1.59590824
179Neonatal short-limb short stature (HP:0008921)1.58784690
180Skull defect (HP:0001362)1.58263716
181Split hand (HP:0001171)1.58167070
182Pili torti (HP:0003777)1.57936123
183Bowing of the arm (HP:0006488)1.57516137
184Bowed forearm bones (HP:0003956)1.57516137
185Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.56847998
186Abnormal gallbladder physiology (HP:0012438)1.55231296
187Cholecystitis (HP:0001082)1.55231296
188Joint laxity (HP:0001388)1.54400372
189Elfin facies (HP:0004428)1.54115799
190Trismus (HP:0000211)1.52401812
191Turricephaly (HP:0000262)1.52361720
192Pointed chin (HP:0000307)1.52196081
193Spinal cord compression (HP:0002176)1.52019320

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK8.61981735
2MKNK24.86577409
3EPHA23.53483997
4NTRK13.22837809
5PRPF4B3.10766484
6RIPK13.06110485
7MKNK13.05000042
8PTK22.89871484
9LATS22.74457789
10MUSK2.64761679
11MST1R2.49983551
12MET2.36725948
13TNIK2.30134410
14PDGFRA2.30091853
15PHKG22.14585327
16PHKG12.14585327
17ARAF2.10767200
18MAP3K92.10367116
19BMPR1B1.90728908
20TNK21.90213401
21PAK41.85249812
22SGK21.81937006
23YES11.80413811
24SMG11.76266955
25TESK11.63476271
26MAPK131.57199293
27AKT31.56788880
28ICK1.54634064
29SIK11.49600665
30TTN1.47410851
31TIE11.39603290
32SGK2231.37498923
33SGK4941.37498923
34TLK11.35016934
35PRKD31.32937948
36LATS11.28815822
37MAP2K71.26533045
38IRAK31.24544118
39TGFBR21.23851735
40INSRR1.23477814
41EPHA41.20224449
42STK241.18972096
43DMPK1.17780940
44IRAK11.16310072
45TAOK21.15052601
46TSSK61.14655795
47PAK61.14505181
48IRAK21.13511651
49GRK71.11730345
50NEK61.10963893
51CLK11.05236209
52STK381.03747328
53NLK1.03231582
54PAK21.01430392
55FER1.00712500
56STK38L0.98759165
57PLK20.98639371
58SGK30.98332026
59TRIB30.97741641
60PIK3CA0.97164112
61EPHB10.95450819
62BMPR20.93629286
63MTOR0.93580902
64MYLK0.93521213
65EEF2K0.92754497
66BUB10.92325700
67PBK0.92277413
68ADRBK20.91945433
69ERBB40.91382961
70MAP3K120.86247672
71TTK0.85320499
72SRPK10.83857287
73STK160.83834205
74EPHB20.83550279
75DYRK20.81824210
76PRKCE0.80928530
77EPHA30.78083536
78ABL20.77316842
79CDK120.76655152
80MAP3K80.76318144
81FES0.76002836
82ZAK0.75889341
83EIF2AK20.75510504
84DYRK1A0.74064234
85TYRO30.73465052
86PKN10.73401103
87NTRK30.72919554
88PTK60.72278853
89ROCK10.71157453
90BRSK10.70710530
91ADRBK10.69472806
92CAMK1G0.69281044
93NEK10.68783735
94PRKG20.67080303
95KSR10.66282465
96GRK10.65225176
97CAMK2A0.63795175
98PLK30.63025994
99MOS0.62884838
100PDGFRB0.62709780
101PRKD20.62494520
102FGFR10.62247059
103STK390.62244635
104MINK10.61545169
105CAMK1D0.60031143
106ERN10.59963050
107PIM20.59321096
108CDK180.59085992
109ALK0.57293069
110CDK150.56276763
111TRIM280.53867262
112IRAK40.53537908
113KSR20.53372455
114LMTK20.53051841
115WNK10.52008989
116MAPK120.51881578
117DDR20.51611273
118CDK30.51596821
119MAP3K30.50588414
120CDK11A0.50507868
121MAP3K140.50360845
122MARK20.49818816
123BCR0.49337324
124TGFBR10.47895784
125FLT30.47178294
126ILK0.46440439
127NTRK20.46363444
128PRKAA20.45610722
129CDK140.45460352
130PRKCG0.45241075
131KDR0.44757679
132ACVR1B0.44463748
133BRAF0.43598597
134MAP3K10.43557412
135PRKCI0.43338603
136MAP3K100.42864415
137CAMK2G0.42857457
138CDK80.42292678
139FGFR30.42069739
140TRPM70.41441678
141STK100.41302424
142PAK10.40909488
143PRKACA0.40657733
144WNK40.40602954
145BMX0.40331952
146SIK30.40329154
147DAPK10.38844004
148PRKG10.38146717
149MARK10.37901961
150OBSCN0.36783990
151ROCK20.36464600
152CAMK2D0.35695967
153UHMK10.34618190
154NEK90.33144780
155MAPK70.32918137
156GRK50.32861034
157ERBB30.32574780
158GSK3A0.32056635
159CAMK2B0.29547809
160LIMK10.29539447
161SGK10.27240223
162PIK3CG0.27068117
163BLK0.26782391
164RPS6KA20.26630057
165CAMK40.26461028
166RPS6KC10.26426169
167RPS6KL10.26426169

Predicted pathways (KEGG)

RankGene SetZ-score
1Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.84680484
2Phototransduction_Homo sapiens_hsa047442.66841989
3Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.55341565
4Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.53746863
5Nicotine addiction_Homo sapiens_hsa050332.50212859
6Fatty acid elongation_Homo sapiens_hsa000622.34081460
7Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.27785469
8Vitamin B6 metabolism_Homo sapiens_hsa007502.13518297
9Taste transduction_Homo sapiens_hsa047422.06283963
10Oxidative phosphorylation_Homo sapiens_hsa001901.95469238
11Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.94460935
12Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.88779865
13Axon guidance_Homo sapiens_hsa043601.79025372
14Arachidonic acid metabolism_Homo sapiens_hsa005901.69344278
15Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.66448415
16Hippo signaling pathway_Homo sapiens_hsa043901.64372709
17Sphingolipid metabolism_Homo sapiens_hsa006001.53228274
18Serotonergic synapse_Homo sapiens_hsa047261.53071871
19Cardiac muscle contraction_Homo sapiens_hsa042601.52290329
20Proteoglycans in cancer_Homo sapiens_hsa052051.49880110
21Basal cell carcinoma_Homo sapiens_hsa052171.47815847
22Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.43311425
23Melanogenesis_Homo sapiens_hsa049161.42518952
24Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.41835411
25Melanoma_Homo sapiens_hsa052181.39890664
26Long-term depression_Homo sapiens_hsa047301.39479566
27Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.38105587
28Central carbon metabolism in cancer_Homo sapiens_hsa052301.37210844
292-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.36832565
30Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.34932588
31Biosynthesis of amino acids_Homo sapiens_hsa012301.31626421
32Tight junction_Homo sapiens_hsa045301.30745671
33Prion diseases_Homo sapiens_hsa050201.28311710
34Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.28108655
35Glutamatergic synapse_Homo sapiens_hsa047241.27961320
36Dilated cardiomyopathy_Homo sapiens_hsa054141.27732041
37Parkinsons disease_Homo sapiens_hsa050121.27729631
38Alzheimers disease_Homo sapiens_hsa050101.27398619
39Calcium signaling pathway_Homo sapiens_hsa040201.26679067
40Fatty acid biosynthesis_Homo sapiens_hsa000611.26511166
41Dorso-ventral axis formation_Homo sapiens_hsa043201.26320600
42Huntingtons disease_Homo sapiens_hsa050161.26225205
43MicroRNAs in cancer_Homo sapiens_hsa052061.25375559
44Circadian rhythm_Homo sapiens_hsa047101.25247082
45Ether lipid metabolism_Homo sapiens_hsa005651.24536653
46GABAergic synapse_Homo sapiens_hsa047271.23559510
47Morphine addiction_Homo sapiens_hsa050321.17589223
48Bladder cancer_Homo sapiens_hsa052191.14591864
49Glioma_Homo sapiens_hsa052141.10785230
50Chronic myeloid leukemia_Homo sapiens_hsa052201.08189095
51Synaptic vesicle cycle_Homo sapiens_hsa047211.08152992
52Salivary secretion_Homo sapiens_hsa049701.07271779
53Long-term potentiation_Homo sapiens_hsa047201.06848886
54Amoebiasis_Homo sapiens_hsa051461.06228819
55Wnt signaling pathway_Homo sapiens_hsa043101.05721274
56Notch signaling pathway_Homo sapiens_hsa043301.05450437
57Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.05027735
58Thyroid hormone signaling pathway_Homo sapiens_hsa049191.03888486
59Ras signaling pathway_Homo sapiens_hsa040141.02484449
60Hedgehog signaling pathway_Homo sapiens_hsa043401.00812794
61Bile secretion_Homo sapiens_hsa049761.00770139
62Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.99609301
63Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.99156632
64Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.98929201
65Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.98395154
66Small cell lung cancer_Homo sapiens_hsa052220.97348939
67Vibrio cholerae infection_Homo sapiens_hsa051100.95486828
68Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.94570297
69Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.94354809
70ECM-receptor interaction_Homo sapiens_hsa045120.94001912
71TGF-beta signaling pathway_Homo sapiens_hsa043500.92674250
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.88604676
73Steroid biosynthesis_Homo sapiens_hsa001000.88256539
74cAMP signaling pathway_Homo sapiens_hsa040240.87660448
75Estrogen signaling pathway_Homo sapiens_hsa049150.87412267
76Prostate cancer_Homo sapiens_hsa052150.86660741
77Ovarian steroidogenesis_Homo sapiens_hsa049130.85229307
78Insulin secretion_Homo sapiens_hsa049110.85211143
79Pentose phosphate pathway_Homo sapiens_hsa000300.85140883
80Arginine biosynthesis_Homo sapiens_hsa002200.84312893
81Olfactory transduction_Homo sapiens_hsa047400.82977711
82Cysteine and methionine metabolism_Homo sapiens_hsa002700.82938377
83Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.82915763
84Gap junction_Homo sapiens_hsa045400.82526802
85Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.81945740
86Circadian entrainment_Homo sapiens_hsa047130.81871745
87Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.81272330
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.80242388
89Carbon metabolism_Homo sapiens_hsa012000.80189210
90Retinol metabolism_Homo sapiens_hsa008300.79374936
91Malaria_Homo sapiens_hsa051440.78880805
92Cholinergic synapse_Homo sapiens_hsa047250.76230293
93Gastric acid secretion_Homo sapiens_hsa049710.75955501
94Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.75001833
95Galactose metabolism_Homo sapiens_hsa000520.74542343
96Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.74533258
97Renin secretion_Homo sapiens_hsa049240.74436641
98Thyroid hormone synthesis_Homo sapiens_hsa049180.73448539
99Aldosterone synthesis and secretion_Homo sapiens_hsa049250.73410693
100Pyruvate metabolism_Homo sapiens_hsa006200.73128511
101Lysine degradation_Homo sapiens_hsa003100.72462337
102Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72351411
103Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.71971716
104PI3K-Akt signaling pathway_Homo sapiens_hsa041510.71907729
105ErbB signaling pathway_Homo sapiens_hsa040120.71843702
106Renal cell carcinoma_Homo sapiens_hsa052110.71615541
107Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.71353139
108Phospholipase D signaling pathway_Homo sapiens_hsa040720.71219796
109Colorectal cancer_Homo sapiens_hsa052100.70461518
110Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.70226716
111Arginine and proline metabolism_Homo sapiens_hsa003300.69756703
112Endocytosis_Homo sapiens_hsa041440.69747756
113Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.69711546
114Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.69226056
115Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.66145889
116AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.65798177
117Endometrial cancer_Homo sapiens_hsa052130.65735901
118Thyroid cancer_Homo sapiens_hsa052160.64214847
119GnRH signaling pathway_Homo sapiens_hsa049120.63589932
120Vitamin digestion and absorption_Homo sapiens_hsa049770.63551288
121Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.63145639
122Rap1 signaling pathway_Homo sapiens_hsa040150.61069702
123Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.60895515
124VEGF signaling pathway_Homo sapiens_hsa043700.60801319
125Pancreatic cancer_Homo sapiens_hsa052120.60235013
126Leukocyte transendothelial migration_Homo sapiens_hsa046700.60220279
127Steroid hormone biosynthesis_Homo sapiens_hsa001400.59521717
128SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58515091
129Inositol phosphate metabolism_Homo sapiens_hsa005620.58477778
130Insulin signaling pathway_Homo sapiens_hsa049100.57966972
131p53 signaling pathway_Homo sapiens_hsa041150.57029125
132Cell cycle_Homo sapiens_hsa041100.56853285
133Oocyte meiosis_Homo sapiens_hsa041140.56385949
134Other glycan degradation_Homo sapiens_hsa005110.55469451
135Dopaminergic synapse_Homo sapiens_hsa047280.54677592
136Mineral absorption_Homo sapiens_hsa049780.54529111
137MAPK signaling pathway_Homo sapiens_hsa040100.53974656
138Peroxisome_Homo sapiens_hsa041460.53731469
139Neurotrophin signaling pathway_Homo sapiens_hsa047220.51988529
140Vascular smooth muscle contraction_Homo sapiens_hsa042700.51685806
141Glycosaminoglycan degradation_Homo sapiens_hsa005310.51267133
142Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.50673490
143Phosphatidylinositol signaling system_Homo sapiens_hsa040700.49868467
144Glucagon signaling pathway_Homo sapiens_hsa049220.49441456
145Complement and coagulation cascades_Homo sapiens_hsa046100.48659882
146Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.48400019
147Fatty acid metabolism_Homo sapiens_hsa012120.47474023
148Cocaine addiction_Homo sapiens_hsa050300.46282273
149Adherens junction_Homo sapiens_hsa045200.44150274
150Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.43357041
151Regulation of actin cytoskeleton_Homo sapiens_hsa048100.42039830
152Pathways in cancer_Homo sapiens_hsa052000.40919895
153Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.40547819
154Fanconi anemia pathway_Homo sapiens_hsa034600.40408882
155Protein digestion and absorption_Homo sapiens_hsa049740.39555098
156Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.39505048
157Protein export_Homo sapiens_hsa030600.39070444
158cGMP-PKG signaling pathway_Homo sapiens_hsa040220.38980531
159Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.37515536
160Focal adhesion_Homo sapiens_hsa045100.36667578

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