ATP2C1

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





Description: The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1hemidesmosome assembly (GO:0031581)4.80243707
2cell adhesion mediated by integrin (GO:0033627)4.74736114
3regulation of short-term neuronal synaptic plasticity (GO:0048172)4.42292174
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.37698672
5synaptic vesicle maturation (GO:0016188)4.36273645
6COPI coating of Golgi vesicle (GO:0048205)4.17054253
7Golgi transport vesicle coating (GO:0048200)4.17054253
8locomotory exploration behavior (GO:0035641)4.13024174
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.94055435
10maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.93670379
11regulation of synaptic vesicle exocytosis (GO:2000300)3.90089443
12synaptic vesicle exocytosis (GO:0016079)3.86467045
13neuron cell-cell adhesion (GO:0007158)3.82782176
14glutamate secretion (GO:0014047)3.81878158
15cellular potassium ion homeostasis (GO:0030007)3.79088165
16vocalization behavior (GO:0071625)3.70706297
17protein retention in ER lumen (GO:0006621)3.70203054
18ionotropic glutamate receptor signaling pathway (GO:0035235)3.59031488
19cell-substrate junction assembly (GO:0007044)3.58525739
20regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.51799752
21desmosome organization (GO:0002934)3.47968960
22layer formation in cerebral cortex (GO:0021819)3.43224766
23protein localization to synapse (GO:0035418)3.42685722
24regulation of synaptic vesicle transport (GO:1902803)3.40106165
25skin morphogenesis (GO:0043589)3.39403372
26glutamate receptor signaling pathway (GO:0007215)3.38007015
27nerve growth factor signaling pathway (GO:0038180)3.35605129
28dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.30403990
29exploration behavior (GO:0035640)3.26735555
30sodium ion export (GO:0071436)3.26556016
31neuron recognition (GO:0008038)3.25988678
32presynaptic membrane assembly (GO:0097105)3.25696804
33regulation of glutamate receptor signaling pathway (GO:1900449)3.25117039
34dendrite morphogenesis (GO:0048813)3.23288483
35regulation of neuronal synaptic plasticity (GO:0048168)3.20559196
36COPII vesicle coating (GO:0048208)3.20059215
37neuronal action potential propagation (GO:0019227)3.19048957
38membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.18394497
39regulation of transforming growth factor beta2 production (GO:0032909)3.16015634
40regulation of long-term neuronal synaptic plasticity (GO:0048169)3.16008383
41hypotonic response (GO:0006971)3.15840006
42synaptic transmission, glutamatergic (GO:0035249)3.15668075
43dendritic spine morphogenesis (GO:0060997)3.11812838
44regulation of early endosome to late endosome transport (GO:2000641)3.10922787
45regulation of dendritic spine morphogenesis (GO:0061001)3.10213706
46axonal fasciculation (GO:0007413)3.10182730
47presynaptic membrane organization (GO:0097090)3.05155637
48gamma-aminobutyric acid signaling pathway (GO:0007214)3.04312787
49neuron-neuron synaptic transmission (GO:0007270)3.03828397
50iron ion import (GO:0097286)3.01243826
51neuron remodeling (GO:0016322)3.00518052
52vesicle transport along microtubule (GO:0047496)3.00166429
53neurotransmitter secretion (GO:0007269)2.99951856
54transmission of nerve impulse (GO:0019226)2.99888844
55negative regulation of neurotransmitter transport (GO:0051589)2.98687957
56synaptic vesicle docking involved in exocytosis (GO:0016081)2.98165986
57proline transport (GO:0015824)2.97523846
58vesicle coating (GO:0006901)2.96442625
59long-term synaptic potentiation (GO:0060291)2.90136144
60regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.89170224
61innervation (GO:0060384)2.87508483
62regulation of NFAT protein import into nucleus (GO:0051532)2.87437885
63synaptic vesicle endocytosis (GO:0048488)2.87387565
64endodermal cell differentiation (GO:0035987)2.86204993
65potassium ion import (GO:0010107)2.84925521
66regulation of excitatory postsynaptic membrane potential (GO:0060079)2.84049179
67adherens junction assembly (GO:0034333)2.81630551
68barbed-end actin filament capping (GO:0051016)2.81629485
69activation of protein kinase A activity (GO:0034199)2.81380651
70endocytic recycling (GO:0032456)2.80265010
71regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.80125579
72positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.79781050
73regulation of glucose import in response to insulin stimulus (GO:2001273)2.77480949
74potassium ion homeostasis (GO:0055075)2.76648556
75retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.76454746
76negative regulation of neurotransmitter secretion (GO:0046929)2.75552368
77epithelial cell differentiation involved in prostate gland development (GO:0060742)2.75409533
78gamma-aminobutyric acid transport (GO:0015812)2.75389105
79regulation of integrin activation (GO:0033623)2.74923467
80regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.74754090
81epithelial cell-cell adhesion (GO:0090136)2.74504443
82focal adhesion assembly (GO:0048041)2.73681069
83cell-substrate adherens junction assembly (GO:0007045)2.73681069
84apical protein localization (GO:0045176)2.73600570
85regulation of synaptic plasticity (GO:0048167)2.73354003
86organelle transport along microtubule (GO:0072384)2.73180347
87regulation of synapse structural plasticity (GO:0051823)2.72998404
88regulation of postsynaptic membrane potential (GO:0060078)2.72669226
89axon ensheathment in central nervous system (GO:0032291)2.72563576
90central nervous system myelination (GO:0022010)2.72563576
91protein targeting to Golgi (GO:0000042)2.72074428
92mating behavior (GO:0007617)2.71810726
93L-amino acid import (GO:0043092)2.70886372
94neuromuscular process controlling balance (GO:0050885)2.70427174
95regulation of dendritic spine development (GO:0060998)2.69661809
96neurotransmitter-gated ion channel clustering (GO:0072578)2.68619731
97long-term memory (GO:0007616)2.67909274
98suckling behavior (GO:0001967)2.65570647
99mesodermal cell differentiation (GO:0048333)2.65285396
100dendritic spine organization (GO:0097061)2.64443293
101neuronal ion channel clustering (GO:0045161)2.64438067
102glucocorticoid receptor signaling pathway (GO:0042921)2.64397682
103regulation of synaptic transmission, glutamatergic (GO:0051966)2.64229252
104negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.63981816
105regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.63811461
106protein localization to endosome (GO:0036010)2.61489151
107G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.60996588
108substrate-dependent cell migration (GO:0006929)2.60957294
109cortical actin cytoskeleton organization (GO:0030866)2.60675097
110stress fiber assembly (GO:0043149)2.59862586
111cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.59784645
112cellular sodium ion homeostasis (GO:0006883)2.59644241
113positive regulation of membrane potential (GO:0045838)2.58901981
114chondrocyte development (GO:0002063)2.58831593
115cerebellar granule cell differentiation (GO:0021707)2.58286442
116surfactant homeostasis (GO:0043129)2.58026238
117chemosensory behavior (GO:0007635)2.57796163
118negative regulation of protein localization to plasma membrane (GO:1903077)2.57304032
119neurotransmitter transport (GO:0006836)2.57256758
120cerebellar Purkinje cell differentiation (GO:0021702)2.57004976
121negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.56608393
122asymmetric protein localization (GO:0008105)2.55173717
123long term synaptic depression (GO:0060292)2.55068345
124regulation of ARF protein signal transduction (GO:0032012)2.54942040
125synapse organization (GO:0050808)2.52013522
126cytoskeletal anchoring at plasma membrane (GO:0007016)2.51538058
127positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.51462041
128definitive hemopoiesis (GO:0060216)2.51364777
129regulation of clathrin-mediated endocytosis (GO:2000369)2.51148567
130synapse assembly (GO:0007416)2.49809552
131semaphorin-plexin signaling pathway (GO:0071526)2.49802174
132negative regulation of adherens junction organization (GO:1903392)2.49243712
133negative regulation of focal adhesion assembly (GO:0051895)2.49243712
134negative regulation of cell junction assembly (GO:1901889)2.49243712
135apoptotic cell clearance (GO:0043277)2.49013183
136negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.48451547
137regulation of neurotransmitter secretion (GO:0046928)2.48077104
138regulation of vesicle fusion (GO:0031338)2.47358426
139establishment of protein localization to Golgi (GO:0072600)2.47104557
140import into cell (GO:0098657)2.46682869
141positive regulation of potassium ion transport (GO:0043268)2.46506152
142negative regulation of synaptic transmission, GABAergic (GO:0032229)2.45667958
143regulation of epidermal growth factor-activated receptor activity (GO:0007176)2.45615531
144regulation of calcium ion-dependent exocytosis (GO:0017158)2.43674126
145negative regulation of anoikis (GO:2000811)2.43169969
146cortical cytoskeleton organization (GO:0030865)2.43043947
147membrane protein ectodomain proteolysis (GO:0006509)2.42043096
148regulation of amyloid precursor protein catabolic process (GO:1902991)2.41942433
149negative regulation of fatty acid transport (GO:2000192)2.41765848
150peptidyl-tyrosine autophosphorylation (GO:0038083)2.41536763
151positive regulation of endothelial cell apoptotic process (GO:2000353)2.37256533
152regulation of protein localization to plasma membrane (GO:1903076)2.33449950
153bundle of His cell to Purkinje myocyte communication (GO:0086069)2.32144573
154nuclear pore complex assembly (GO:0051292)2.31229792
155regulation of transforming growth factor beta production (GO:0071634)2.31145646
156regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.30510413
157regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.30245050
158retina vasculature morphogenesis in camera-type eye (GO:0061299)2.29304967
159regulation of glucocorticoid metabolic process (GO:0031943)2.27516127
160positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.26963140
161positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.26585342
162phospholipid translocation (GO:0045332)2.26027105
163lipid translocation (GO:0034204)2.26027105
164endoplasmic reticulum organization (GO:0007029)2.25229736
165extracellular matrix disassembly (GO:0022617)2.24671345
166activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.23686678
167chemical homeostasis within a tissue (GO:0048875)2.22072441
168regulation of nucleobase-containing compound transport (GO:0032239)2.21714962
169regulation of anoikis (GO:2000209)2.20150587
170collagen fibril organization (GO:0030199)2.19577489
171corticosteroid receptor signaling pathway (GO:0031958)2.19014079
172collagen metabolic process (GO:0032963)2.18529599
173regulation of protein polyubiquitination (GO:1902914)2.17634188
174planar cell polarity pathway involved in neural tube closure (GO:0090179)2.16433366
175localization within membrane (GO:0051668)2.14890781
176protein hydroxylation (GO:0018126)2.14519507
177collagen catabolic process (GO:0030574)2.14359591
178keratinocyte proliferation (GO:0043616)2.13906795
179regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)2.13804805
180regulation of transforming growth factor beta1 production (GO:0032908)2.13436767
181multicellular organismal macromolecule metabolic process (GO:0044259)2.12238612
182gap junction assembly (GO:0016264)2.12206658
183peptidyl-proline hydroxylation (GO:0019511)2.10810800
184basement membrane organization (GO:0071711)2.10679972
185positive regulation of nuclease activity (GO:0032075)2.10327688
186ER-nucleus signaling pathway (GO:0006984)2.10294550
187positive regulation of nitric-oxide synthase activity (GO:0051000)2.09675329
188vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.08802386
189negative regulation of DNA repair (GO:0045738)2.08609737
190G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.08544029
191positive regulation of osteoblast proliferation (GO:0033690)2.08148049
192positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.07230377

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.82280460
2EZH2_22144423_ChIP-Seq_EOC_Human4.26192147
3NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.85774441
4EGR1_19374776_ChIP-ChIP_THP-1_Human3.35809143
5GBX2_23144817_ChIP-Seq_PC3_Human3.18617364
6CLOCK_20551151_ChIP-Seq_293T_Human2.90250351
7TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.83141254
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.54453008
9SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.49824525
10SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.36802291
11JARID2_20064375_ChIP-Seq_MESCs_Mouse2.31196261
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.18486975
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.18486975
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.15809392
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.13194095
16TRIM28_21343339_ChIP-Seq_HEK293_Human2.12988330
17SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse2.11816240
18SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.08769838
19SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.06575402
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.01533869
21* WT1_19549856_ChIP-ChIP_CCG9911_Human2.00744086
22ESR2_21235772_ChIP-Seq_MCF-7_Human1.99089138
23ZNF263_19887448_ChIP-Seq_K562_Human1.95237382
24RARB_27405468_Chip-Seq_BRAIN_Mouse1.94640125
25DROSHA_22980978_ChIP-Seq_HELA_Human1.93755454
26JARID2_20075857_ChIP-Seq_MESCs_Mouse1.93475669
27Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.92099450
28SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.87559674
29EZH2_27304074_Chip-Seq_ESCs_Mouse1.86350901
30* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.84388350
31* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.84388350
32EED_16625203_ChIP-ChIP_MESCs_Mouse1.82531207
33TAF15_26573619_Chip-Seq_HEK293_Human1.80644442
34SOX9_24532713_ChIP-Seq_HFSC_Mouse1.80368345
35ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.80121237
36REST_21632747_ChIP-Seq_MESCs_Mouse1.79958213
37RNF2_27304074_Chip-Seq_ESCs_Mouse1.79248587
38AR_21909140_ChIP-Seq_LNCAP_Human1.76706651
39CDX2_19796622_ChIP-Seq_MESCs_Mouse1.74604547
40KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.72980087
41CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.70785072
42EZH2_27294783_Chip-Seq_ESCs_Mouse1.70028328
43* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.68548698
44SUZ12_27294783_Chip-Seq_ESCs_Mouse1.68261813
45ZNF217_24962896_ChIP-Seq_MCF-7_Human1.66640130
46SMAD4_21799915_ChIP-Seq_A2780_Human1.65199739
47SALL4_18804426_ChIP-ChIP_XEN_Mouse1.62717284
48SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.62609256
49GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.62002059
50AR_21572438_ChIP-Seq_LNCaP_Human1.61685472
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.61430936
52* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.59547468
53OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.58900711
54HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.58805570
55CTBP2_25329375_ChIP-Seq_LNCAP_Human1.58355318
56CTBP1_25329375_ChIP-Seq_LNCAP_Human1.57428978
57PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.54781084
58FOXO3_23340844_ChIP-Seq_DLD1_Human1.53449214
59AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.52547275
60GATA2_21666600_ChIP-Seq_HMVEC_Human1.48169109
61POU3F2_20337985_ChIP-ChIP_501MEL_Human1.47359726
62P300_27058665_Chip-Seq_ZR-75-30cells_Human1.47300895
63STAT3_23295773_ChIP-Seq_U87_Human1.46981997
64PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.46397084
65RARG_19884340_ChIP-ChIP_MEFs_Mouse1.46277633
66DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.46015961
67NR3C1_23031785_ChIP-Seq_PC12_Mouse1.44121779
68* REST_18959480_ChIP-ChIP_MESCs_Mouse1.43048635
69GATA1_22025678_ChIP-Seq_K562_Human1.42957483
70ZFP57_27257070_Chip-Seq_ESCs_Mouse1.41796017
71SMAD3_21741376_ChIP-Seq_EPCs_Human1.41425376
72BRD4_25478319_ChIP-Seq_HGPS_Human1.40990958
73RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.40841102
74P300_19829295_ChIP-Seq_ESCs_Human1.40546372
75KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.40503173
76NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.40382813
77ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.40042337
78NFIB_24661679_ChIP-Seq_LUNG_Mouse1.39913726
79SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39860634
80SMAD_19615063_ChIP-ChIP_OVARY_Human1.38105065
81ZNF274_21170338_ChIP-Seq_K562_Hela1.38099365
82SOX2_27498859_Chip-Seq_STOMACH_Mouse1.35858302
83ARNT_22903824_ChIP-Seq_MCF-7_Human1.35243975
84HIF1A_21447827_ChIP-Seq_MCF-7_Human1.34372979
85PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.34133921
86SOX2_21211035_ChIP-Seq_LN229_Gbm1.33752002
87AHR_22903824_ChIP-Seq_MCF-7_Human1.33646419
88MYB_21317192_ChIP-Seq_ERMYB_Mouse1.33546449
89RBPJ_22232070_ChIP-Seq_NCS_Mouse1.31846841
90TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31065673
91CTNNB1_20460455_ChIP-Seq_HCT116_Human1.30459971
92ESR1_21235772_ChIP-Seq_MCF-7_Human1.30083332
93PPAR_26484153_Chip-Seq_NCI-H1993_Human1.29276503
94CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.28077084
95NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.27902523
96SOX2_20726797_ChIP-Seq_SW620_Human1.27011438
97* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.25885036
98TP53_16413492_ChIP-PET_HCT116_Human1.25837300
99KDM2B_26808549_Chip-Seq_K562_Human1.24806596
100AR_25329375_ChIP-Seq_VCAP_Human1.24573573
101RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.24199475
102FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.24046558
103EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.23426768
104TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23048101
105TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.23009465
106UBF1/2_26484160_Chip-Seq_HMECs_Human1.21860887
107ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.18818449
108IGF1R_20145208_ChIP-Seq_DFB_Human1.18777573
109IKZF1_21737484_ChIP-ChIP_HCT116_Human1.18613000
110CJUN_26792858_Chip-Seq_BT549_Human1.18204486
111TCF4_23295773_ChIP-Seq_U87_Human1.17843363
112PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.17585988
113VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.17354118
114GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16774909
115EP300_21415370_ChIP-Seq_HL-1_Mouse1.16128554
116AR_19668381_ChIP-Seq_PC3_Human1.16114492
117NR3C1_21868756_ChIP-Seq_MCF10A_Human1.16043109
118EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.15848656
119FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.15703355
120TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15539390
121TBX20_22080862_ChIP-Seq_HEART_Mouse1.14852692
122TBX20_22328084_ChIP-Seq_HEART_Mouse1.14852692
123SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.13593086
124TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.12983824
125WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.12768300
126FUS_26573619_Chip-Seq_HEK293_Human1.12381929
127YAP1_20516196_ChIP-Seq_MESCs_Mouse1.12118783
128RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.11878336
129TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.09009338
130NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.05783931
131TP63_23658742_ChIP-Seq_EP156T_Human1.05733453
132EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.05697567
133ERG_21242973_ChIP-ChIP_JURKAT_Human1.05282255
134PRDM14_20953172_ChIP-Seq_ESCs_Human1.05244283
135NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.04234428
136NRF2_20460467_ChIP-Seq_MEFs_Mouse1.04234428
137PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.04024091
138NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.03676298
139TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03671650
140RING1B_27294783_Chip-Seq_NPCs_Mouse1.03197409
141TCF7_22412390_ChIP-Seq_EML_Mouse1.02959845
142NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.02927254
143TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02810901
144STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.02554026
145* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02406786
146UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.01843405
147CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.01673634
148BCAT_22108803_ChIP-Seq_LS180_Human1.01402778
149TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01368572
150RING1B_27294783_Chip-Seq_ESCs_Mouse1.01203506
151* RUNX2_22187159_ChIP-Seq_PCA_Human1.00794348
152VDR_22108803_ChIP-Seq_LS180_Human1.00705563
153ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.00472168
154TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99796430
155* ELK3_25401928_ChIP-Seq_HUVEC_Human0.99749007
156SMAD4_21741376_ChIP-Seq_HESCs_Human0.98975530
157SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.98880485
158FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.98764600
159SMAD3_21741376_ChIP-Seq_HESCs_Human0.98542090
160ESR1_20079471_ChIP-ChIP_T-47D_Human0.98290371
161KDM2B_26808549_Chip-Seq_SUP-B15_Human0.97848154
162TP53_18474530_ChIP-ChIP_U2OS_Human0.97793070
163NANOG_18555785_Chip-Seq_ESCs_Mouse0.97686726
164P53_22127205_ChIP-Seq_FIBROBLAST_Human0.97260860
165* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97252797
166MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.95937007
167TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.95439976
168BMI1_23680149_ChIP-Seq_NPCS_Mouse0.94119782
169ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.93283347
170SMAD3_21741376_ChIP-Seq_ESCs_Human0.93209463
171STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.92213517
172RXR_22108803_ChIP-Seq_LS180_Human0.91921315
173TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.91019425
174ZFP281_27345836_Chip-Seq_ESCs_Mouse0.91007344
175RACK7_27058665_Chip-Seq_MCF-7_Human0.90487158
176TCF4_18268006_ChIP-ChIP_LS174T_Human0.88919785
177FOXM1_26456572_ChIP-Seq_MCF-7_Human0.88880187
178ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.86439922
179KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.85752489

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.64025223
2MP0003880_abnormal_central_pattern4.17950712
3MP0004270_analgesia4.07962456
4MP0008438_abnormal_cutaneous_collagen4.02444504
5MP0003705_abnormal_hypodermis_morpholog3.75066390
6MP0010352_gastrointestinal_tract_polyps3.65615449
7MP0003635_abnormal_synaptic_transmissio3.60654715
8MP0003566_abnormal_cell_adhesion3.21094878
9MP0002877_abnormal_melanocyte_morpholog3.08304765
10MP0002063_abnormal_learning/memory/cond2.93095332
11MP0009745_abnormal_behavioral_response2.81657173
12MP0004272_abnormal_basement_membrane2.76267090
13MP0005275_abnormal_skin_tensile2.75804876
14MP0002064_seizures2.73341763
15MP0000537_abnormal_urethra_morphology2.50990068
16MP0003091_abnormal_cell_migration2.50151034
17MP0003941_abnormal_skin_development2.44501450
18MP0002572_abnormal_emotion/affect_behav2.42753639
19MP0009780_abnormal_chondrocyte_physiolo2.40619472
20MP0005409_darkened_coat_color2.38785628
21MP0003329_amyloid_beta_deposits2.37469825
22MP0001486_abnormal_startle_reflex2.36674433
23MP0002734_abnormal_mechanical_nocicepti2.36461437
24MP0002272_abnormal_nervous_system2.36436567
25MP0002009_preneoplasia2.33498872
26MP0001968_abnormal_touch/_nociception2.25485140
27MP0005257_abnormal_intraocular_pressure2.15896051
28MP0003453_abnormal_keratinocyte_physiol2.14353468
29MP0009046_muscle_twitch2.13007243
30MP0008004_abnormal_stomach_pH2.07701458
31MP0004885_abnormal_endolymph2.01303691
32MP0005423_abnormal_somatic_nervous2.00756014
33MP0010234_abnormal_vibrissa_follicle1.99410113
34MP0000778_abnormal_nervous_system1.97809006
35MP0004858_abnormal_nervous_system1.93276371
36MP0002735_abnormal_chemical_nociception1.92486661
37MP0000920_abnormal_myelination1.92347263
38MP0001440_abnormal_grooming_behavior1.90852182
39MP0002736_abnormal_nociception_after1.88720624
40MP0000579_abnormal_nail_morphology1.88462945
41MP0003279_aneurysm1.85840119
42MP0002909_abnormal_adrenal_gland1.84370969
43MP0001501_abnormal_sleep_pattern1.81065429
44MP0002796_impaired_skin_barrier1.78853545
45MP0002067_abnormal_sensory_capabilities1.73136882
46MP0001849_ear_inflammation1.71843030
47MP0002822_catalepsy1.68842307
48MP0002060_abnormal_skin_morphology1.68485043
49MP0002733_abnormal_thermal_nociception1.68169038
50MP0005076_abnormal_cell_differentiation1.65769078
51MP0003690_abnormal_glial_cell1.62986132
52MP0000955_abnormal_spinal_cord1.62835579
53MP0001970_abnormal_pain_threshold1.62515524
54MP0005023_abnormal_wound_healing1.59299916
55MP0005058_abnormal_lysosome_morphology1.57701520
56MP0003303_peritoneal_inflammation1.56908726
57MP0004924_abnormal_behavior1.50878205
58MP0005386_behavior/neurological_phenoty1.50878205
59MP0002184_abnormal_innervation1.50850003
60MP0003633_abnormal_nervous_system1.50383526
61MP0002896_abnormal_bone_mineralization1.50266759
62MP0003634_abnormal_glial_cell1.48412292
63MP0002882_abnormal_neuron_morphology1.46459615
64MP0001984_abnormal_olfaction1.45459222
65MP0004811_abnormal_neuron_physiology1.44788372
66MP0002557_abnormal_social/conspecific_i1.43998440
67MP0010368_abnormal_lymphatic_system1.43449550
68MP0010386_abnormal_urinary_bladder1.42220522
69MP0003787_abnormal_imprinting1.41928305
70MP0000569_abnormal_digit_pigmentation1.41111150
71MP0006054_spinal_hemorrhage1.39415755
72MP0005551_abnormal_eye_electrophysiolog1.37779060
73MP0001958_emphysema1.36993898
74MP0004185_abnormal_adipocyte_glucose1.34098469
75MP0008569_lethality_at_weaning1.34080318
76MP0003631_nervous_system_phenotype1.33856387
77MP0004808_abnormal_hematopoietic_stem1.33723289
78MP0003191_abnormal_cellular_cholesterol1.32982086
79MP0002229_neurodegeneration1.31937302
80MP0004043_abnormal_pH_regulation1.31661010
81MP0000013_abnormal_adipose_tissue1.30002285
82MP0001216_abnormal_epidermal_layer1.29445581
83MP0000383_abnormal_hair_follicle1.29079786
84MP0002066_abnormal_motor_capabilities/c1.28457767
85MP0003448_altered_tumor_morphology1.27329673
86MP0003632_abnormal_nervous_system1.26582328
87MP0001502_abnormal_circadian_rhythm1.25602439
88MP0009840_abnormal_foam_cell1.25538647
89MP0001299_abnormal_eye_distance/1.23686041
90MP0005646_abnormal_pituitary_gland1.23198032
91MP0001905_abnormal_dopamine_level1.23137409
92MP0000604_amyloidosis1.20614285
93MP0001915_intracranial_hemorrhage1.20058144
94MP0001485_abnormal_pinna_reflex1.18520275
95MP0002166_altered_tumor_susceptibility1.17474049
96MP0004510_myositis1.17292168
97MP0005501_abnormal_skin_physiology1.15596288
98MP0005621_abnormal_cell_physiology1.14071704
99MP0006072_abnormal_retinal_apoptosis1.13671237
100MP0004742_abnormal_vestibular_system1.13561813
101MP0005666_abnormal_adipose_tissue1.13431202
102MP0002006_tumorigenesis1.11684552
103* MP0002152_abnormal_brain_morphology1.08707222
104MP0006276_abnormal_autonomic_nervous1.07378508
105MP0003879_abnormal_hair_cell1.07163356
106MP0000733_abnormal_muscle_development1.04075814
107MP0001529_abnormal_vocalization1.03959056
108MP0005623_abnormal_meninges_morphology1.03168712
109MP0001177_atelectasis0.99070133
110MP0003283_abnormal_digestive_organ0.96987426
111MP0003950_abnormal_plasma_membrane0.96350691
112MP0000767_abnormal_smooth_muscle0.95567486
113MP0004947_skin_inflammation0.95294066
114MP0005187_abnormal_penis_morphology0.94965835
115MP0003656_abnormal_erythrocyte_physiolo0.93644229
116MP0004264_abnormal_extraembryonic_tissu0.92631852
117MP0000762_abnormal_tongue_morphology0.91738148
118MP0010678_abnormal_skin_adnexa0.91658162
119MP0005464_abnormal_platelet_physiology0.91553872
120MP0002090_abnormal_vision0.91483856
121MP0002837_dystrophic_cardiac_calcinosis0.90621372
122MP0001348_abnormal_lacrimal_gland0.89934803
123MP0005171_absent_coat_pigmentation0.89312278
124MP0003315_abnormal_perineum_morphology0.89155850
125MP0005165_increased_susceptibility_to0.89038198
126MP0004782_abnormal_surfactant_physiolog0.88957205
127MP0003045_fibrosis0.88947779
128MP0003075_altered_response_to0.88032544
129MP0005375_adipose_tissue_phenotype0.87079320
130MP0004145_abnormal_muscle_electrophysio0.87015339
131MP0003828_pulmonary_edema0.86889213
132MP0003868_abnormal_feces_composition0.85592488
133MP0001963_abnormal_hearing_physiology0.85590221
134MP0001879_abnormal_lymphatic_vessel0.85334849
135MP0010771_integument_phenotype0.84920852
136MP0001188_hyperpigmentation0.84863654
137MP0005197_abnormal_uvea_morphology0.84824324
138MP0000428_abnormal_craniofacial_morphol0.83985722
139MP0000627_abnormal_mammary_gland0.83881023
140MP0001851_eye_inflammation0.83843287
141MP0002752_abnormal_somatic_nervous0.83523161
142MP0005167_abnormal_blood-brain_barrier0.82512912
143MP0002069_abnormal_eating/drinking_beha0.80398468
144MP0005645_abnormal_hypothalamus_physiol0.79432709
145MP0005253_abnormal_eye_physiology0.79377991
146MP0004085_abnormal_heartbeat0.79117656
147MP0005508_abnormal_skeleton_morphology0.78417853
148MP0004233_abnormal_muscle_weight0.78383638
149MP0003172_abnormal_lysosome_physiology0.78299541
150MP0000534_abnormal_ureter_morphology0.78276643
151MP0009384_cardiac_valve_regurgitation0.77396257
152MP0005595_abnormal_vascular_smooth0.76192437
153MP0000467_abnormal_esophagus_morphology0.76064520
154MP0003183_abnormal_peptide_metabolism0.75718960
155MP0000631_abnormal_neuroendocrine_gland0.75111357
156MP0002998_abnormal_bone_remodeling0.74937138
157MP0009053_abnormal_anal_canal0.72194302
158MP0002089_abnormal_postnatal_growth/wei0.72147881
159MP0000462_abnormal_digestive_system0.71806300
160MP0004036_abnormal_muscle_relaxation0.71536235
161MP0004142_abnormal_muscle_tone0.71330432
162* MP0001191_abnormal_skin_condition0.70248358
163MP0000858_altered_metastatic_potential0.70222901
164MP0000465_gastrointestinal_hemorrhage0.70194899
165MP0002086_abnormal_extraembryonic_tissu0.69672765
166MP0008874_decreased_physiological_sensi0.69387608
167MP0000377_abnormal_hair_follicle0.69294262
168* MP0005384_cellular_phenotype0.68732901
169MP0005535_abnormal_body_temperature0.68626755
170MP0003122_maternal_imprinting0.68578822
171MP0010307_abnormal_tumor_latency0.68390297
172MP0000003_abnormal_adipose_tissue0.68281521
173MP0005195_abnormal_posterior_eye0.68206395
174MP0001765_abnormal_ion_homeostasis0.65795693
175MP0004484_altered_response_of0.64934952
176MP0000747_muscle_weakness0.60678006
177MP0003300_gastrointestinal_ulcer0.59621866
178MP0001664_abnormal_digestion0.59028898
179* MP0003861_abnormal_nervous_system0.57739160
180MP0001943_abnormal_respiration0.57014214

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.40294147
2Neurofibrillary tangles (HP:0002185)4.43550117
3Focal seizures (HP:0007359)4.25432944
4Cerebral inclusion bodies (HP:0100314)4.20320111
5Myokymia (HP:0002411)4.11249016
6Premature rupture of membranes (HP:0001788)3.97483391
7Visual hallucinations (HP:0002367)3.88534009
8Degeneration of the lateral corticospinal tracts (HP:0002314)3.81521383
9Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.81521383
10Abnormality of the corticospinal tract (HP:0002492)3.76492954
11Insidious onset (HP:0003587)3.76307045
12Termporal pattern (HP:0011008)3.76307045
13Supranuclear gaze palsy (HP:0000605)3.74783140
14Atrophic scars (HP:0001075)3.71756788
15Atonic seizures (HP:0010819)3.66232114
16Action tremor (HP:0002345)3.47919258
17Protrusio acetabuli (HP:0003179)3.45877921
18Epileptic encephalopathy (HP:0200134)3.39211428
19Absence seizures (HP:0002121)3.26427313
20Generalized tonic-clonic seizures (HP:0002069)3.10010770
21Dialeptic seizures (HP:0011146)3.08813207
22Dysmetria (HP:0001310)3.07115331
23Intention tremor (HP:0002080)3.04017428
24Ankle clonus (HP:0011448)2.98295611
25Febrile seizures (HP:0002373)2.95983214
26Spastic gait (HP:0002064)2.83991299
27Drooling (HP:0002307)2.78838419
28Excessive salivation (HP:0003781)2.78838419
29Osteolytic defects of the phalanges of the hand (HP:0009771)2.78492124
30Osteolytic defects of the hand bones (HP:0009699)2.78492124
31Flat acetabular roof (HP:0003180)2.74936861
32Progressive cerebellar ataxia (HP:0002073)2.74813410
33Dysdiadochokinesis (HP:0002075)2.68240900
34Urinary bladder sphincter dysfunction (HP:0002839)2.61586816
35Hyperventilation (HP:0002883)2.58878947
36Postural instability (HP:0002172)2.58196612
37Abnormality of binocular vision (HP:0011514)2.57475520
38Diplopia (HP:0000651)2.57475520
39Broad-based gait (HP:0002136)2.56913928
40Ankyloglossia (HP:0010296)2.53703455
41Impaired vibration sensation in the lower limbs (HP:0002166)2.52509852
42Aortic dissection (HP:0002647)2.49119821
43Mutism (HP:0002300)2.48107031
44Papilledema (HP:0001085)2.45748022
45Depression (HP:0000716)2.44556992
46Urinary urgency (HP:0000012)2.43704596
47Neuronal loss in central nervous system (HP:0002529)2.41377383
48Truncal ataxia (HP:0002078)2.40808852
49Right ventricular cardiomyopathy (HP:0011663)2.39878242
50Fragile skin (HP:0001030)2.39536236
51Hemiparesis (HP:0001269)2.39449967
52Tetraparesis (HP:0002273)2.39018660
53Scanning speech (HP:0002168)2.38951144
54Lower limb muscle weakness (HP:0007340)2.38446811
55Wormian bones (HP:0002645)2.36802438
56Aortic aneurysm (HP:0004942)2.35373019
57Absent speech (HP:0001344)2.32662687
58Increased circulating renin level (HP:0000848)2.32166837
59Relative macrocephaly (HP:0004482)2.31595101
60Short nail (HP:0001799)2.31422975
61Arterial tortuosity (HP:0005116)2.29471712
62Amblyopia (HP:0000646)2.29260098
63Overgrowth (HP:0001548)2.28428055
64Aqueductal stenosis (HP:0002410)2.26956517
65Megalencephaly (HP:0001355)2.24277352
66Vertebral arch anomaly (HP:0008438)2.23031849
67Epileptiform EEG discharges (HP:0011182)2.21824320
68Neonatal short-limb short stature (HP:0008921)2.19062523
69Gaze-evoked nystagmus (HP:0000640)2.15611949
70Cerebral aneurysm (HP:0004944)2.13758541
71Natal tooth (HP:0000695)2.12591883
72EEG with generalized epileptiform discharges (HP:0011198)2.12230691
73Akinesia (HP:0002304)2.09729038
74Aplasia involving bones of the upper limbs (HP:0009823)2.07932720
75Aplasia of the phalanges of the hand (HP:0009802)2.07932720
76Aplasia involving bones of the extremities (HP:0009825)2.07932720
77Peripheral hypomyelination (HP:0007182)2.07858503
78Bladder diverticulum (HP:0000015)2.07310374
79Onion bulb formation (HP:0003383)2.06886751
80Anxiety (HP:0000739)2.05861900
81Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.05562278
82Abnormality of glycolipid metabolism (HP:0010969)2.05238074
83Abnormality of liposaccharide metabolism (HP:0010968)2.05238074
84Abnormality of glycosphingolipid metabolism (HP:0004343)2.05238074
85Shallow orbits (HP:0000586)2.04338746
86Vertebral compression fractures (HP:0002953)2.04249439
87Advanced eruption of teeth (HP:0006288)2.02547999
88Abnormality of salivation (HP:0100755)2.01499400
89Cervical subluxation (HP:0003308)2.01345043
90Poor eye contact (HP:0000817)2.01215703
91Onycholysis (HP:0001806)2.01191217
92Follicular hyperkeratosis (HP:0007502)2.00582399
93Abnormal eating behavior (HP:0100738)2.00163445
94Cubitus valgus (HP:0002967)1.99632340
95Hypsarrhythmia (HP:0002521)1.99128721
96Thickened helices (HP:0000391)1.98978271
97Pheochromocytoma (HP:0002666)1.98399230
98Thoracolumbar scoliosis (HP:0002944)1.98291294
99Abnormal social behavior (HP:0012433)1.97204326
100Impaired social interactions (HP:0000735)1.97204326
101Vascular tortuosity (HP:0004948)1.96730613
102Macroorchidism (HP:0000053)1.94951889
103Abnormality of oral frenula (HP:0000190)1.94937668
104Milia (HP:0001056)1.94907419
105Ankle contracture (HP:0006466)1.93972537
106Abnormality of dentin (HP:0010299)1.93954807
107Central scotoma (HP:0000603)1.93130303
108Syringomyelia (HP:0003396)1.92802669
109Spinal cord lesions (HP:0100561)1.92802669
110Dysmetric saccades (HP:0000641)1.92626997
111Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.92064173
112Back pain (HP:0003418)1.91841187
113Agitation (HP:0000713)1.91634086
114Increased mean platelet volume (HP:0011877)1.91044022
115Widely spaced teeth (HP:0000687)1.90958299
116Interstitial pulmonary disease (HP:0006530)1.89216037
117Spinal rigidity (HP:0003306)1.86760684
118Abnormality of the distal phalanx of the thumb (HP:0009617)1.86409699
119Hemiplegia (HP:0002301)1.86213091
120Clonus (HP:0002169)1.86167943
121Spondylolisthesis (HP:0003302)1.86089982
122Rapidly progressive (HP:0003678)1.85702614
123Genetic anticipation (HP:0003743)1.85281370
124Aneurysm (HP:0002617)1.85072968
125Blue irides (HP:0000635)1.84468754
126Hyperacusis (HP:0010780)1.84206886
127Buphthalmos (HP:0000557)1.83425093
128Generalized myoclonic seizures (HP:0002123)1.81008166
129Mitral valve prolapse (HP:0001634)1.78250224
130Morphological abnormality of the pyramidal tract (HP:0002062)1.77666660
131Anosmia (HP:0000458)1.77230305
132Genu recurvatum (HP:0002816)1.75833867
133Thick nail (HP:0001805)1.74402380
134Apathy (HP:0000741)1.74297701
135Distal upper limb amyotrophy (HP:0007149)1.73968682
136Upper limb amyotrophy (HP:0009129)1.73968682
137Bradykinesia (HP:0002067)1.73927042
138Turricephaly (HP:0000262)1.72794994
139Hyperextensible skin (HP:0000974)1.72336302
140Hyperparathyroidism (HP:0000843)1.72327605
141Curly hair (HP:0002212)1.72065419
142Clumsiness (HP:0002312)1.71973755
143Type II lissencephaly (HP:0007260)1.70948388
144Blue sclerae (HP:0000592)1.70584537
145Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.69517264
146Hammertoe (HP:0001765)1.69167181
147Resting tremor (HP:0002322)1.68228004
148Gait ataxia (HP:0002066)1.67505839
149Exotropia (HP:0000577)1.67142545
150Anteriorly placed anus (HP:0001545)1.66850037
151Joint laxity (HP:0001388)1.66797863
152Broad face (HP:0000283)1.66645246
153Hoarse voice (HP:0001609)1.66263869
154Retinal dysplasia (HP:0007973)1.65691813
155Abnormality of secondary sexual hair (HP:0009888)1.65223621
156Abnormality of the axillary hair (HP:0100134)1.65223621
157Asymmetry of the thorax (HP:0001555)1.64885495
158Broad metatarsal (HP:0001783)1.64749154
159Congenital glaucoma (HP:0001087)1.64714387
160Inappropriate behavior (HP:0000719)1.64697840
161Torticollis (HP:0000473)1.64374417
162Dilatation of the ascending aorta (HP:0005111)1.64112224
163Postural tremor (HP:0002174)1.64044739
164Absent frontal sinuses (HP:0002688)1.62925890
165Papillary thyroid carcinoma (HP:0002895)1.62437685
166Impaired smooth pursuit (HP:0007772)1.62194295
167Lower limb asymmetry (HP:0100559)1.62017129
168Choroideremia (HP:0001139)1.60996776
169Dysostosis multiplex (HP:0000943)1.58132523
170Thin bony cortex (HP:0002753)1.56664425
171Distal lower limb amyotrophy (HP:0008944)1.56029783
172Abnormality of the acetabulum (HP:0003170)1.55884687
173Urinary glycosaminoglycan excretion (HP:0003541)1.55267111
174Mucopolysacchariduria (HP:0008155)1.55267111
175Abnormal platelet volume (HP:0011876)1.53908666
176Alopecia of scalp (HP:0002293)1.53798067
177Abnormal cortical bone morphology (HP:0003103)1.53507377
178Mitral stenosis (HP:0001718)1.52601848
179Heterotopia (HP:0002282)1.52403219
180Coarse hair (HP:0002208)1.52094750
181Achilles tendon contracture (HP:0001771)1.51720502
182Lower limb amyotrophy (HP:0007210)1.51362898
183Shoulder girdle muscle weakness (HP:0003547)1.50925965
184Insomnia (HP:0100785)1.49542027

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA43.69104608
2NTRK33.54214783
3MAP3K93.28849110
4RIPK12.89489618
5KSR22.49130914
6MAP3K42.45587680
7NTRK12.43173277
8MARK12.36958793
9STK392.35139675
10TRIB32.31380022
11IRAK32.20838652
12AKT32.18014756
13CDK122.15189261
14MST1R2.09923888
15EEF2K2.09814035
16PAK62.04583260
17NEK92.01193548
18OXSR11.94445049
19MINK11.85327845
20PRKD31.80222675
21RIPK41.67882774
22ICK1.66566495
23NTRK21.60136771
24DAPK21.60125719
25MAP3K21.59927658
26KSR11.55752540
27PNCK1.51725325
28MAP2K71.50460854
29FGFR21.49133577
30CASK1.48337400
31TYRO31.43354241
32CDK51.41333403
33MAP2K41.38972789
34CAMK1G1.38339662
35FGR1.36903130
36TAOK11.33545835
37PAK21.32928230
38CDK61.28508628
39SGK2231.28412517
40SGK4941.28412517
41PLK21.27378358
42TTN1.23273180
43BCR1.23159651
44PAK31.21806821
45MAP3K141.21086186
46WNK11.20300329
47RET1.19340336
48WNK41.19216009
49MOS1.18525737
50CAMKK11.16857600
51MAP3K131.16235198
52CSNK1G21.14952282
53PRPF4B1.11061707
54PAK41.07498290
55CAMK2B1.07233605
56MTOR1.06865126
57PKN21.06076739
58GRK51.05548905
59SCYL21.03584174
60IRAK21.02503225
61MYLK1.01555693
62STK241.01435704
63TRPM71.01247088
64MAPK131.00840541
65CAMK2A1.00647246
66CDC42BPA1.00584197
67PTK2B0.99976314
68BRD40.99839179
69EPHA20.98679735
70FER0.98453816
71UHMK10.97586527
72FRK0.95686441
73FGFR30.91615341
74PRKCH0.91461274
75STK38L0.91368216
76JAK10.90522352
77TAOK20.89399442
78FES0.88818693
79TESK10.88574667
80CAMKK20.87360525
81ARAF0.87351918
82PKN10.84053616
83PIM20.83436371
84LMTK20.82306125
85ERN10.82079350
86MARK20.80547923
87SIK10.78970329
88YES10.78860209
89DMPK0.78631523
90STK380.78478688
91INSRR0.78289684
92SGK10.76663644
93MAPKAPK50.76388680
94LATS20.75060930
95CAMK2D0.74176924
96RAF10.73967624
97PRKCE0.73761307
98ERBB30.73454567
99TGFBR20.73416562
100SGK20.72514596
101PHKG10.72431152
102PHKG20.72431152
103MET0.72234267
104EPHB20.71574254
105RPS6KA20.70856226
106PDPK10.70822630
107CSNK1A1L0.70734588
108TNIK0.68847411
109CAMK1D0.68581563
110FGFR40.68258561
111MAP3K10.67722912
112SGK30.67609288
113STK110.67561453
114CDK140.67399958
115PRKCG0.67083003
116EPHB10.66936487
117EPHA30.66633184
118PDGFRA0.66304799
119BRAF0.66088052
120SMG10.65964653
121PBK0.64610281
122PDGFRB0.64610095
123CSNK1G30.64543831
124MAP3K50.62760518
125LATS10.62492792
126CDK150.62048479
127ROCK20.61808413
128PTK20.61594285
129CDK180.61374550
130STK30.60929325
131BMPR20.59332879
132EIF2AK30.58971208
133PDK10.58566007
134DDR20.58249546
135FYN0.57124066
136PRKG20.56250545
137DYRK1A0.55520443
138FLT30.55504926
139CSNK1G10.55310633
140ERBB40.53709994
141HIPK20.53046716
142PRKD10.51530770
143MAPK100.50252265
144NEK60.50142820
145BMX0.49758259
146MAP3K60.47940024
147CAMK2G0.47750783
148SIK20.47596348
149CDK11A0.45483418
150MAP2K10.44240947
151GSK3A0.42502960
152IRAK10.39585617
153RPS6KB10.35640266
154MATK0.34909473
155PRKD20.32972186
156MAP3K30.31670814
157CDK90.29955085
158RPS6KB20.29920844

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.62332187
2Long-term potentiation_Homo sapiens_hsa047202.28420995
3Synaptic vesicle cycle_Homo sapiens_hsa047212.22349440
4Glutamatergic synapse_Homo sapiens_hsa047242.21232007
5Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.20530417
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.18474608
7GABAergic synapse_Homo sapiens_hsa047272.18365726
8Circadian entrainment_Homo sapiens_hsa047132.12878687
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.97107467
10Morphine addiction_Homo sapiens_hsa050321.97021479
11ECM-receptor interaction_Homo sapiens_hsa045121.94458105
12Amphetamine addiction_Homo sapiens_hsa050311.94367075
13Olfactory transduction_Homo sapiens_hsa047401.89336773
14Salivary secretion_Homo sapiens_hsa049701.86861243
15Dopaminergic synapse_Homo sapiens_hsa047281.84441831
16Insulin secretion_Homo sapiens_hsa049111.82984676
17Amoebiasis_Homo sapiens_hsa051461.71939436
18Gastric acid secretion_Homo sapiens_hsa049711.69549254
19Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.66565669
20Long-term depression_Homo sapiens_hsa047301.66180482
21Cholinergic synapse_Homo sapiens_hsa047251.62715668
22Renin secretion_Homo sapiens_hsa049241.59502376
23Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.59102266
24Adherens junction_Homo sapiens_hsa045201.58196170
25AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.54707673
26Serotonergic synapse_Homo sapiens_hsa047261.54120396
27Chronic myeloid leukemia_Homo sapiens_hsa052201.53836357
28Cocaine addiction_Homo sapiens_hsa050301.49584932
29Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.48393290
30Bladder cancer_Homo sapiens_hsa052191.44596868
31Aldosterone synthesis and secretion_Homo sapiens_hsa049251.42908518
32Taste transduction_Homo sapiens_hsa047421.41887571
33Small cell lung cancer_Homo sapiens_hsa052221.41887389
34Proteoglycans in cancer_Homo sapiens_hsa052051.41721822
35Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.38474861
36Oxytocin signaling pathway_Homo sapiens_hsa049211.37798181
37Other glycan degradation_Homo sapiens_hsa005111.34098383
38GnRH signaling pathway_Homo sapiens_hsa049121.31807800
39Axon guidance_Homo sapiens_hsa043601.30115141
40Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.29625281
41Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.27562307
42Nitrogen metabolism_Homo sapiens_hsa009101.25335576
43Type II diabetes mellitus_Homo sapiens_hsa049301.21961169
44Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20587058
45Central carbon metabolism in cancer_Homo sapiens_hsa052301.19922520
46Estrogen signaling pathway_Homo sapiens_hsa049151.19603344
47Glycosaminoglycan degradation_Homo sapiens_hsa005311.19247797
48Gap junction_Homo sapiens_hsa045401.18276880
49cAMP signaling pathway_Homo sapiens_hsa040241.17914268
50Thyroid cancer_Homo sapiens_hsa052161.16462746
51Prostate cancer_Homo sapiens_hsa052151.16320099
52Dorso-ventral axis formation_Homo sapiens_hsa043201.14980682
53Collecting duct acid secretion_Homo sapiens_hsa049661.12872115
54Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.12018413
55Calcium signaling pathway_Homo sapiens_hsa040201.11910690
56Pancreatic secretion_Homo sapiens_hsa049721.11145247
57Glioma_Homo sapiens_hsa052141.07438218
58MicroRNAs in cancer_Homo sapiens_hsa052061.06099899
59Vibrio cholerae infection_Homo sapiens_hsa051101.06023804
60Sphingolipid metabolism_Homo sapiens_hsa006001.05084453
61Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.04417654
62Platelet activation_Homo sapiens_hsa046111.03451408
63ErbB signaling pathway_Homo sapiens_hsa040121.03431565
64cGMP-PKG signaling pathway_Homo sapiens_hsa040221.03297799
65Hepatitis C_Homo sapiens_hsa051601.01022380
66TNF signaling pathway_Homo sapiens_hsa046681.00457364
67Vascular smooth muscle contraction_Homo sapiens_hsa042700.99068977
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.98310995
69Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97021322
70Phospholipase D signaling pathway_Homo sapiens_hsa040720.96881283
71Acute myeloid leukemia_Homo sapiens_hsa052210.95557659
72Choline metabolism in cancer_Homo sapiens_hsa052310.92950957
73Salmonella infection_Homo sapiens_hsa051320.92548327
74Leukocyte transendothelial migration_Homo sapiens_hsa046700.92165482
75Thyroid hormone synthesis_Homo sapiens_hsa049180.91673888
76Phototransduction_Homo sapiens_hsa047440.91483205
77Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.90391216
78Melanogenesis_Homo sapiens_hsa049160.89658141
79Renal cell carcinoma_Homo sapiens_hsa052110.88887996
80Toll-like receptor signaling pathway_Homo sapiens_hsa046200.84800011
81Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.83671917
82Carbohydrate digestion and absorption_Homo sapiens_hsa049730.83546519
83Notch signaling pathway_Homo sapiens_hsa043300.79440788
84Insulin signaling pathway_Homo sapiens_hsa049100.78529687
85Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.77401305
86Renin-angiotensin system_Homo sapiens_hsa046140.77255557
87Pathways in cancer_Homo sapiens_hsa052000.76607945
88Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.76583791
89Toxoplasmosis_Homo sapiens_hsa051450.76528736
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.75923131
91Shigellosis_Homo sapiens_hsa051310.75340816
92VEGF signaling pathway_Homo sapiens_hsa043700.75156957
93Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.74540619
94Dilated cardiomyopathy_Homo sapiens_hsa054140.73484073
95Hepatitis B_Homo sapiens_hsa051610.73404583
96Sphingolipid signaling pathway_Homo sapiens_hsa040710.73300124
97Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.70844247
98Ras signaling pathway_Homo sapiens_hsa040140.70672374
99Endocytosis_Homo sapiens_hsa041440.68722976
100Inositol phosphate metabolism_Homo sapiens_hsa005620.68434781
101Ovarian steroidogenesis_Homo sapiens_hsa049130.67454854
102Rap1 signaling pathway_Homo sapiens_hsa040150.67039529
103MAPK signaling pathway_Homo sapiens_hsa040100.66212428
104Bile secretion_Homo sapiens_hsa049760.66141738
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.66126555
106Protein digestion and absorption_Homo sapiens_hsa049740.65964440
107Ether lipid metabolism_Homo sapiens_hsa005650.65433246
108PI3K-Akt signaling pathway_Homo sapiens_hsa041510.64038267
109Melanoma_Homo sapiens_hsa052180.63945124
110Hippo signaling pathway_Homo sapiens_hsa043900.62832495
111mTOR signaling pathway_Homo sapiens_hsa041500.62487922
112Prion diseases_Homo sapiens_hsa050200.61605100
113Influenza A_Homo sapiens_hsa051640.61569443
114HIF-1 signaling pathway_Homo sapiens_hsa040660.60785485
115B cell receptor signaling pathway_Homo sapiens_hsa046620.59709336
116Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.59462796
117Oocyte meiosis_Homo sapiens_hsa041140.59437116
118Malaria_Homo sapiens_hsa051440.58818459
119Endometrial cancer_Homo sapiens_hsa052130.58788956
120AMPK signaling pathway_Homo sapiens_hsa041520.56101564
121Tight junction_Homo sapiens_hsa045300.55254773
122Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.54556120
123African trypanosomiasis_Homo sapiens_hsa051430.53974570
124Adipocytokine signaling pathway_Homo sapiens_hsa049200.52756832
125Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.51498818
126Mineral absorption_Homo sapiens_hsa049780.50887598
127Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50399760
128Circadian rhythm_Homo sapiens_hsa047100.48866931
129Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.48850232
130Neurotrophin signaling pathway_Homo sapiens_hsa047220.48074870
131Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.47077664
132Non-small cell lung cancer_Homo sapiens_hsa052230.46646541
133Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45598861
134Glucagon signaling pathway_Homo sapiens_hsa049220.45189392
135Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44395698
136Lysosome_Homo sapiens_hsa041420.44212750
137Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43463186
138Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.43263701
139Pancreatic cancer_Homo sapiens_hsa052120.41841575
140Wnt signaling pathway_Homo sapiens_hsa043100.41512999
141Fatty acid biosynthesis_Homo sapiens_hsa000610.41209189
142Longevity regulating pathway - mammal_Homo sapiens_hsa042110.40892480
143Chemokine signaling pathway_Homo sapiens_hsa040620.39407716
144Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37362855
145Colorectal cancer_Homo sapiens_hsa052100.37317805
146Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.36639194
147Focal adhesion_Homo sapiens_hsa045100.36636275
148Prolactin signaling pathway_Homo sapiens_hsa049170.36573011

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