SMARCAL1

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





Description: The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of protein localization to mitochondrial membrane (GO:0090151)7.22407414
2chaperone-mediated protein transport (GO:0072321)5.48053736
3maturation of SSU-rRNA (GO:0030490)5.08032107
4viral transcription (GO:0019083)5.02209790
5mitotic sister chromatid cohesion (GO:0007064)4.95209088
6translational termination (GO:0006415)4.90433432
7protein-cofactor linkage (GO:0018065)4.88631019
8pre-miRNA processing (GO:0031054)4.82534779
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.67165989
10ribosomal small subunit biogenesis (GO:0042274)4.53362757
11ribosomal small subunit assembly (GO:0000028)4.44480468
12gamma-aminobutyric acid transport (GO:0015812)4.43751638
13behavioral response to nicotine (GO:0035095)4.43185430
14locomotory exploration behavior (GO:0035641)4.40739326
15intracellular protein transmembrane import (GO:0044743)4.33381028
16regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.31832342
17DNA deamination (GO:0045006)4.31815853
18SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.30054434
19regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.28330330
20protein complex biogenesis (GO:0070271)4.26292949
21cotranslational protein targeting to membrane (GO:0006613)4.24468644
22RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)4.21492959
23tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)4.21492959
24translational elongation (GO:0006414)4.21004170
25regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.20421877
26protein targeting to ER (GO:0045047)4.19164455
27mitochondrial respiratory chain complex I assembly (GO:0032981)4.18726810
28NADH dehydrogenase complex assembly (GO:0010257)4.18726810
29mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.18726810
30negative regulation of telomere maintenance (GO:0032205)4.17772008
31vocalization behavior (GO:0071625)4.08635548
32positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.07488055
33synaptic vesicle maturation (GO:0016188)4.06204082
34protein localization to endoplasmic reticulum (GO:0070972)4.02434039
35neurofilament cytoskeleton organization (GO:0060052)3.95789488
36regulation of short-term neuronal synaptic plasticity (GO:0048172)3.92585408
37ATP synthesis coupled proton transport (GO:0015986)3.92118998
38energy coupled proton transport, down electrochemical gradient (GO:0015985)3.92118998
39establishment of protein localization to endoplasmic reticulum (GO:0072599)3.91822980
40neuron cell-cell adhesion (GO:0007158)3.90420732
41viral life cycle (GO:0019058)3.88654029
42regulation of telomere maintenance via telomerase (GO:0032210)3.85810884
43regulation of glutamate receptor signaling pathway (GO:1900449)3.84973166
44mitochondrial respiratory chain complex assembly (GO:0033108)3.84367530
45intracellular protein transmembrane transport (GO:0065002)3.82639624
46inner mitochondrial membrane organization (GO:0007007)3.80817136
47L-amino acid import (GO:0043092)3.78831551
48mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.76211071
49cellular protein complex disassembly (GO:0043624)3.71539601
50nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.64794193
51presynaptic membrane assembly (GO:0097105)3.62068720
52regulation of synapse structural plasticity (GO:0051823)3.58780926
53protein import into peroxisome matrix (GO:0016558)3.57067436
54cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.45082443
55cerebellar Purkinje cell layer development (GO:0021680)3.44335969
56response to pheromone (GO:0019236)3.44086150
57protein complex disassembly (GO:0043241)3.42297006
58layer formation in cerebral cortex (GO:0021819)3.41850204
59exploration behavior (GO:0035640)3.41384139
60striatum development (GO:0021756)3.37012104
61rRNA modification (GO:0000154)3.34435645
62mesenchymal cell differentiation involved in renal system development (GO:2001012)3.32962798
63mesenchymal cell differentiation involved in kidney development (GO:0072161)3.32962798
64cell communication by electrical coupling (GO:0010644)3.32418997
65tongue development (GO:0043586)3.32162634
66lactate metabolic process (GO:0006089)3.31506130
67synaptic vesicle docking involved in exocytosis (GO:0016081)3.31300992
68somatic hypermutation of immunoglobulin genes (GO:0016446)3.28862699
69somatic diversification of immune receptors via somatic mutation (GO:0002566)3.28862699
70macromolecular complex disassembly (GO:0032984)3.28046187
71maturation of 5.8S rRNA (GO:0000460)3.25734614
72postsynaptic membrane organization (GO:0001941)3.25303111
73synaptic vesicle endocytosis (GO:0048488)3.24345409
74ionotropic glutamate receptor signaling pathway (GO:0035235)3.23603258
75regulation of synaptic vesicle exocytosis (GO:2000300)3.22634400
76translational initiation (GO:0006413)3.21970463
77vesicle transport along microtubule (GO:0047496)3.20054211
78nonmotile primary cilium assembly (GO:0035058)3.17579285
79protein deneddylation (GO:0000338)3.16727377
80cullin deneddylation (GO:0010388)3.15006092
81cellular component biogenesis (GO:0044085)3.14838837
82kinetochore assembly (GO:0051382)3.14623923
83positive regulation of defense response to virus by host (GO:0002230)3.12867829
84mRNA splice site selection (GO:0006376)3.12429015
85mannosylation (GO:0097502)3.09061647
86establishment of nucleus localization (GO:0040023)3.08877129
87platelet dense granule organization (GO:0060155)3.07038965
88protein neddylation (GO:0045116)3.06125872
89positive regulation of synaptic transmission, GABAergic (GO:0032230)3.06062413
90glyoxylate metabolic process (GO:0046487)3.05881107
91organelle transport along microtubule (GO:0072384)3.05171718
92response to redox state (GO:0051775)3.04547985
93cerebellar Purkinje cell differentiation (GO:0021702)3.04398729
94regulation of synaptic vesicle transport (GO:1902803)3.04155073
95histone H4-K5 acetylation (GO:0043981)3.03958016
96histone H4-K8 acetylation (GO:0043982)3.03958016
97DNA catabolic process, exonucleolytic (GO:0000738)3.03477419
98presynaptic membrane organization (GO:0097090)3.03139009
99proline transport (GO:0015824)3.01937380
100positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.00974150
101protein transmembrane transport (GO:0071806)2.95136590
102iron-sulfur cluster assembly (GO:0016226)2.94086017
103metallo-sulfur cluster assembly (GO:0031163)2.94086017
104pseudouridine synthesis (GO:0001522)2.92888496
105auditory behavior (GO:0031223)2.91860334
106cerebellum development (GO:0021549)2.91441496
107pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.91121745
108glutamate secretion (GO:0014047)2.90565822
109mitochondrial genome maintenance (GO:0000002)2.90141994
110protein polyglutamylation (GO:0018095)2.89190915
111neuromuscular process controlling posture (GO:0050884)2.88407956
112lipopolysaccharide biosynthetic process (GO:0009103)2.88286297
113histone H4-K16 acetylation (GO:0043984)2.88193878
114rRNA methylation (GO:0031167)2.87858132
115intraspecies interaction between organisms (GO:0051703)2.87756739
116social behavior (GO:0035176)2.87756739
117negative regulation of B cell apoptotic process (GO:0002903)2.87713111
118regulation of dendritic spine morphogenesis (GO:0061001)2.87389708
119cellular response to interferon-beta (GO:0035458)2.87140857
120synaptic transmission, glutamatergic (GO:0035249)2.86140659
121positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)2.85514535
122neurotransmitter secretion (GO:0007269)2.84881220
123protein targeting to mitochondrion (GO:0006626)2.84582403
124histone H3-K4 trimethylation (GO:0080182)2.83804378
125DNA double-strand break processing (GO:0000729)2.83634043
126protein targeting to membrane (GO:0006612)2.82910939
127membrane hyperpolarization (GO:0060081)2.82420148
128ribonucleoprotein complex biogenesis (GO:0022613)2.81932806
129regulation of ARF protein signal transduction (GO:0032012)2.81636168
130kinetochore organization (GO:0051383)2.81596252
131membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.81315404
132long-term memory (GO:0007616)2.81303475
133establishment of protein localization to mitochondrion (GO:0072655)2.80992458
134negative regulation of cytosolic calcium ion concentration (GO:0051481)2.80334809
135regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.80212041
136intraciliary transport (GO:0042073)2.79341874
137translation (GO:0006412)2.79326660
138sequestering of actin monomers (GO:0042989)2.78847508
139amino acid import (GO:0043090)2.78414458
140regulation of cilium movement (GO:0003352)2.78192069
141synaptic vesicle exocytosis (GO:0016079)2.77701950
142insulin secretion (GO:0030073)2.77576390
143pentose metabolic process (GO:0019321)2.77014913
144response to auditory stimulus (GO:0010996)2.76951960
145regulation of telomere maintenance (GO:0032204)2.75972822
146mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.75206982
147nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.74934873
148cytochrome complex assembly (GO:0017004)2.74119644
149peptidyl-arginine omega-N-methylation (GO:0035247)2.73064557
150positive regulation of membrane potential (GO:0045838)2.72514506
151positive regulation of synapse maturation (GO:0090129)2.72006871
152nuclear-transcribed mRNA catabolic process (GO:0000956)2.70715638
153retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.70672461
154regulation of excitatory postsynaptic membrane potential (GO:0060079)2.69355242
155mitochondrion distribution (GO:0048311)2.68732665
156snRNA processing (GO:0016180)2.67841828
157prepulse inhibition (GO:0060134)2.67244128
158G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.65875306
159glutamate receptor signaling pathway (GO:0007215)2.65027575
160regulation of postsynaptic membrane potential (GO:0060078)2.64146699
161mechanosensory behavior (GO:0007638)2.63339011
162protein localization to mitochondrion (GO:0070585)2.63201946
163G-protein coupled receptor internalization (GO:0002031)2.62755625
164protein localization to peroxisome (GO:0072662)2.62561340
165protein targeting to peroxisome (GO:0006625)2.62561340
166establishment of protein localization to peroxisome (GO:0072663)2.62561340
167tRNA processing (GO:0008033)2.61102188
168regulation of neuronal synaptic plasticity (GO:0048168)2.60994984
169dicarboxylic acid biosynthetic process (GO:0043650)2.59998494
170mRNA catabolic process (GO:0006402)2.59460694
171axonal fasciculation (GO:0007413)2.59387250
172exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.59264037
173electron transport chain (GO:0022900)2.58511251
174recombinational repair (GO:0000725)2.57712923
175sodium ion export (GO:0071436)2.55876323
176regulation of long-term neuronal synaptic plasticity (GO:0048169)2.54749683
177L-fucose catabolic process (GO:0042355)2.54519510
178fucose catabolic process (GO:0019317)2.54519510
179L-fucose metabolic process (GO:0042354)2.54519510
180negative regulation of histone methylation (GO:0031061)2.54460537
181L-serine metabolic process (GO:0006563)2.54432312
182viral protein processing (GO:0019082)2.54228601
183neuromuscular process controlling balance (GO:0050885)2.54031067
184respiratory electron transport chain (GO:0022904)2.53613094
185peptidyl-arginine N-methylation (GO:0035246)2.52098654
186peptidyl-arginine methylation (GO:0018216)2.52098654
187negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.51724452
188glycine transport (GO:0015816)2.51239724
189regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.49679984
190regulation of respiratory system process (GO:0044065)2.49495771
191neuron-neuron synaptic transmission (GO:0007270)2.49232589
192DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.49199534
193ATP biosynthetic process (GO:0006754)2.49038981
194rRNA processing (GO:0006364)2.48684553
195establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.47938936
196mitochondrion transport along microtubule (GO:0047497)2.47938936
197protein localization to synapse (GO:0035418)2.47473263
198nucleus localization (GO:0051647)2.46326109
199mitochondrion localization (GO:0051646)2.45854523
200activation of protein kinase A activity (GO:0034199)2.45082258

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.35727362
2ZFP322A_24550733_ChIP-Seq_MESCs_Mouse4.95996621
3EZH2_22144423_ChIP-Seq_EOC_Human4.87797851
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.49069001
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.10294737
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.99013426
7* ETS1_20019798_ChIP-Seq_JURKAT_Human3.55015551
8E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.53314290
9EST1_17652178_ChIP-ChIP_JURKAT_Human3.41667997
10ELF1_17652178_ChIP-ChIP_JURKAT_Human3.25542287
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.24975185
12RBPJ_22232070_ChIP-Seq_NCS_Mouse3.23088056
13CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.09044604
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.00822468
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.95714075
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.89572657
17SRF_21415370_ChIP-Seq_HL-1_Mouse2.85891951
18* RARB_27405468_Chip-Seq_BRAIN_Mouse2.74779104
19CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.58755098
20MYC_18358816_ChIP-ChIP_MESCs_Mouse2.54659855
21DROSHA_22980978_ChIP-Seq_HELA_Human2.50032647
22CREB1_15753290_ChIP-ChIP_HEK293T_Human2.47783539
23VDR_22108803_ChIP-Seq_LS180_Human2.47469821
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.47108801
25FOXM1_23109430_ChIP-Seq_U2OS_Human2.44775643
26SMAD_19615063_ChIP-ChIP_OVARY_Human2.42737907
27EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.40360556
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.39606600
29FOXP3_21729870_ChIP-Seq_TREG_Human2.36336318
30PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.35964132
31YY1_21170310_ChIP-Seq_MESCs_Mouse2.28978846
32* REST_21632747_ChIP-Seq_MESCs_Mouse2.27589697
33GABP_19822575_ChIP-Seq_HepG2_Human2.26568159
34VDR_23849224_ChIP-Seq_CD4+_Human2.22635741
35NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.21623384
36GBX2_23144817_ChIP-Seq_PC3_Human2.16130804
37XRN2_22483619_ChIP-Seq_HELA_Human2.14733987
38* REST_18959480_ChIP-ChIP_MESCs_Mouse2.13939503
39MYC_22102868_ChIP-Seq_BL_Human2.12997769
40THAP11_20581084_ChIP-Seq_MESCs_Mouse2.11626342
41ELK1_19687146_ChIP-ChIP_HELA_Human2.11454112
42TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.04890477
43CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.97912180
44TTF2_22483619_ChIP-Seq_HELA_Human1.90694136
45* PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.88029565
46MYC_19030024_ChIP-ChIP_MESCs_Mouse1.86495486
47DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.84592119
48IRF1_19129219_ChIP-ChIP_H3396_Human1.81363949
49SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.80831883
50CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.75111299
51CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.73810078
52VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.72273153
53SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.71717436
54BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.69161850
55SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.66245323
56KDM5A_27292631_Chip-Seq_BREAST_Human1.65693718
57KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.64473319
58MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.64377697
59ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.62310777
60E2F1_18555785_ChIP-Seq_MESCs_Mouse1.61586240
61MYC_19079543_ChIP-ChIP_MESCs_Mouse1.59822885
62FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.59357664
63HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.58493165
64TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.55733991
65CIITA_25753668_ChIP-Seq_RAJI_Human1.55527463
66ZFP281_18757296_ChIP-ChIP_E14_Mouse1.54931641
67SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.54139209
68IKZF1_21737484_ChIP-ChIP_HCT116_Human1.53447222
69FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.52633434
70* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.51796068
71TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.51679586
72CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.51197094
73SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.50135815
74SALL1_21062744_ChIP-ChIP_HESCs_Human1.49608096
75CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.48679890
76POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.47212290
77TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47212290
78TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.42761256
79MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.41617021
80STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.38072274
81SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.37775186
82EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.36472248
83TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.35355528
84DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.34762936
85CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.34552056
86FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.33581075
87YY1_22570637_ChIP-Seq_MALME-3M_Human1.32807512
88AR_19668381_ChIP-Seq_PC3_Human1.30597084
89* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.30438859
90JARID2_20064375_ChIP-Seq_MESCs_Mouse1.30299502
91EGR1_19374776_ChIP-ChIP_THP-1_Human1.29124614
92PKCTHETA_26484144_Chip-Seq_BREAST_Human1.27853312
93GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.27650464
94YAP1_20516196_ChIP-Seq_MESCs_Mouse1.27625016
95* STAT3_23295773_ChIP-Seq_U87_Human1.26364705
96CTCF_18555785_ChIP-Seq_MESCs_Mouse1.26215418
97SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.24580453
98SOX2_21211035_ChIP-Seq_LN229_Gbm1.24144356
99RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.22728816
100EZH2_27294783_Chip-Seq_ESCs_Mouse1.22399379
101* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.21584832
102DCP1A_22483619_ChIP-Seq_HELA_Human1.20867537
103MTF2_20144788_ChIP-Seq_MESCs_Mouse1.20100861
104PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.19053376
105P53_22127205_ChIP-Seq_FIBROBLAST_Human1.17502858
106DNAJC2_21179169_ChIP-ChIP_NT2_Human1.17176607
107* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.16840699
108E2F4_17652178_ChIP-ChIP_JURKAT_Human1.16666472
109NOTCH1_21737748_ChIP-Seq_TLL_Human1.16577358
110RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.16383658
111PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.14964350
112TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.14742062
113WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.14687603
114MYC_18940864_ChIP-ChIP_HL60_Human1.14554918
115* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.13583637
116SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.13084705
117EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.12852230
118TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12778644
119KDM2B_26808549_Chip-Seq_K562_Human1.12422207
120KDM2B_26808549_Chip-Seq_JURKAT_Human1.11975305
121YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11925064
122ZFP281_27345836_Chip-Seq_ESCs_Mouse1.11906524
123POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.10937147
124ELF1_20517297_ChIP-Seq_JURKAT_Human1.10904944
125RNF2_27304074_Chip-Seq_ESCs_Mouse1.10392243
126ZNF274_21170338_ChIP-Seq_K562_Hela1.10020256
127LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.09900156
128RNF2_18974828_ChIP-Seq_MESCs_Mouse1.08613161
129EZH2_18974828_ChIP-Seq_MESCs_Mouse1.08613161
130SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08151841
131* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.07257924
132NELFA_20434984_ChIP-Seq_ESCs_Mouse1.06697278
133GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.06187899
134TP53_22573176_ChIP-Seq_HFKS_Human1.05943411
135SMAD4_21799915_ChIP-Seq_A2780_Human1.05863380
136E2F1_21310950_ChIP-Seq_MCF-7_Human1.05370670
137SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.04841129
138FOXP1_21924763_ChIP-Seq_HESCs_Human1.04724226
139TCF4_23295773_ChIP-Seq_U87_Human1.04677267
140SUZ12_27294783_Chip-Seq_ESCs_Mouse1.03963940
141KDM2B_26808549_Chip-Seq_DND41_Human1.02465658
142WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02451851
143* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02433461
144SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.01982302
145JARID2_20075857_ChIP-Seq_MESCs_Mouse1.01660754
146SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.00511254
147NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.00379913
148HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.99636317
149* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.99419895
150CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.98302153
151SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.98275422
152BCL6_27268052_Chip-Seq_Bcells_Human0.98197907
153E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.98141274
154BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.97838997
155EZH2_27304074_Chip-Seq_ESCs_Mouse0.97611393
156KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.97001861
157TCF7_22412390_ChIP-Seq_EML_Mouse0.96832918
158AR_21572438_ChIP-Seq_LNCaP_Human0.96556510
159* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.96465476
160TDRD3_21172665_ChIP-Seq_MCF-7_Human0.96102437
161* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95955853
162CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.95411830
163ETV2_25802403_ChIP-Seq_MESCs_Mouse0.94854130
164E2F1_20622854_ChIP-Seq_HELA_Human0.94802935
165ELK1_22589737_ChIP-Seq_MCF10A_Human0.94712205
166NANOG_18555785_ChIP-Seq_MESCs_Mouse0.94602154
167MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.94513614
168ESR1_15608294_ChIP-ChIP_MCF-7_Human0.93991264
169GATA3_21878914_ChIP-Seq_MCF-7_Human0.93967313
170OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.93801628
171CTNNB1_20460455_ChIP-Seq_HCT116_Human0.93323101
172ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.93239459
173TP53_22127205_ChIP-Seq_IMR90_Human0.93115105
174MYCN_18555785_ChIP-Seq_MESCs_Mouse0.92531117
175KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92161356
176* SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.91509736
177VDR_21846776_ChIP-Seq_THP-1_Human0.91372658
178PHF8_20622854_ChIP-Seq_HELA_Human0.91234232
179* SOX9_26525672_Chip-Seq_HEART_Mouse0.90994181
180SOX2_18555785_ChIP-Seq_MESCs_Mouse0.90219441
181TP63_19390658_ChIP-ChIP_HaCaT_Human0.90088227
182IGF1R_20145208_ChIP-Seq_DFB_Human0.89188242
183KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.88807902
184TBX3_20139965_ChIP-Seq_MESCs_Mouse0.87047510
185TBX3_20139965_ChIP-Seq_ESCs_Mouse0.86871178
186RARB_24833708_ChIP-Seq_LIVER_Mouse0.84331403
187WDR5_24793694_ChIP-Seq_LNCAP_Human0.84204521
188SPI1_23127762_ChIP-Seq_K562_Human0.84066247
189* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.83397993

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.28588192
2MP0005423_abnormal_somatic_nervous4.25375014
3MP0002938_white_spotting3.04209723
4MP0001986_abnormal_taste_sensitivity2.98683017
5MP0003635_abnormal_synaptic_transmissio2.97144444
6MP0004270_analgesia2.93063145
7MP0005646_abnormal_pituitary_gland2.78471625
8MP0008789_abnormal_olfactory_epithelium2.77208199
9MP0002909_abnormal_adrenal_gland2.67099183
10MP0002653_abnormal_ependyma_morphology2.66378352
11MP0008995_early_reproductive_senescence2.62837905
12MP0000569_abnormal_digit_pigmentation2.59448399
13MP0001529_abnormal_vocalization2.59375647
14MP0002063_abnormal_learning/memory/cond2.51272096
15MP0005084_abnormal_gallbladder_morpholo2.46567753
16MP0008961_abnormal_basal_metabolism2.45201739
17MP0000372_irregular_coat_pigmentation2.42950812
18MP0002822_catalepsy2.35841281
19MP0004147_increased_porphyrin_level2.33326804
20MP0003186_abnormal_redox_activity2.20354590
21MP0009745_abnormal_behavioral_response2.18602892
22MP0001293_anophthalmia2.18397437
23MP0002064_seizures2.18227783
24MP0008875_abnormal_xenobiotic_pharmacok2.16354208
25MP0004133_heterotaxia2.04267196
26MP0003122_maternal_imprinting2.04090984
27MP0009379_abnormal_foot_pigmentation2.01759305
28MP0002572_abnormal_emotion/affect_behav2.00130280
29MP0003283_abnormal_digestive_organ1.99864168
30MP0002102_abnormal_ear_morphology1.97067592
31MP0003880_abnormal_central_pattern1.88177996
32MP0005386_behavior/neurological_phenoty1.87768705
33MP0004924_abnormal_behavior1.87768705
34MP0003806_abnormal_nucleotide_metabolis1.83938700
35MP0001501_abnormal_sleep_pattern1.83407333
36MP0003787_abnormal_imprinting1.80731403
37MP0000566_synostosis1.79060393
38MP0004811_abnormal_neuron_physiology1.78501418
39MP0010030_abnormal_orbit_morphology1.76619885
40MP0005645_abnormal_hypothalamus_physiol1.75155048
41MP0001486_abnormal_startle_reflex1.71965807
42MP0005075_abnormal_melanosome_morpholog1.71589785
43MP0002734_abnormal_mechanical_nocicepti1.71371580
44MP0009046_muscle_twitch1.70747633
45MP0002272_abnormal_nervous_system1.67784671
46MP0000778_abnormal_nervous_system1.66977404
47MP0009697_abnormal_copulation1.63676483
48MP0006292_abnormal_olfactory_placode1.63298206
49MP0002837_dystrophic_cardiac_calcinosis1.62040631
50MP0009053_abnormal_anal_canal1.58528689
51MP0002067_abnormal_sensory_capabilities1.55483928
52MP0002557_abnormal_social/conspecific_i1.54982748
53MP0002095_abnormal_skin_pigmentation1.54271786
54MP0008877_abnormal_DNA_methylation1.53082091
55MP0001835_abnormal_antigen_presentation1.52417783
56MP0003136_yellow_coat_color1.50823920
57MP0008569_lethality_at_weaning1.50718948
58MP0003121_genomic_imprinting1.49648048
59MP0010094_abnormal_chromosome_stability1.48340824
60MP0001968_abnormal_touch/_nociception1.47449024
61MP0002733_abnormal_thermal_nociception1.46505756
62MP0003890_abnormal_embryonic-extraembry1.46029382
63MP0009780_abnormal_chondrocyte_physiolo1.38430483
64MP0006276_abnormal_autonomic_nervous1.38217790
65MP0002184_abnormal_innervation1.32258368
66MP0000955_abnormal_spinal_cord1.31553822
67MP0004145_abnormal_muscle_electrophysio1.31412800
68MP0001984_abnormal_olfaction1.30152535
69MP0001324_abnormal_eye_pigmentation1.29317957
70MP0000751_myopathy1.26745337
71MP0004510_myositis1.25259580
72MP0002735_abnormal_chemical_nociception1.24367434
73MP0003111_abnormal_nucleus_morphology1.23435691
74MP0002736_abnormal_nociception_after1.22710242
75MP0005257_abnormal_intraocular_pressure1.22288623
76MP0000613_abnormal_salivary_gland1.21692692
77MP0004858_abnormal_nervous_system1.21380561
78MP0002152_abnormal_brain_morphology1.19248015
79MP0000049_abnormal_middle_ear1.18825078
80MP0004215_abnormal_myocardial_fiber1.18138191
81MP0002132_abnormal_respiratory_system1.17690483
82MP0010386_abnormal_urinary_bladder1.16170703
83MP0000631_abnormal_neuroendocrine_gland1.14051675
84MP0003315_abnormal_perineum_morphology1.14038200
85MP0002138_abnormal_hepatobiliary_system1.13113147
86MP0001970_abnormal_pain_threshold1.12772763
87MP0001661_extended_life_span1.12056327
88MP0002066_abnormal_motor_capabilities/c1.11188171
89MP0003633_abnormal_nervous_system1.09572532
90MP0002254_reproductive_system_inflammat1.08312895
91MP0003786_premature_aging1.06877793
92MP0003950_abnormal_plasma_membrane1.06604817
93MP0001502_abnormal_circadian_rhythm1.05587779
94MP0003123_paternal_imprinting1.05586159
95MP0003690_abnormal_glial_cell1.05246539
96MP0005671_abnormal_response_to1.03780049
97MP0003137_abnormal_impulse_conducting1.02039943
98MP0008872_abnormal_physiological_respon1.01845842
99MP0003631_nervous_system_phenotype1.00495897
100MP0002882_abnormal_neuron_morphology1.00490260
101MP0004084_abnormal_cardiac_muscle1.00161788
102MP0004085_abnormal_heartbeat0.99502258
103MP0003172_abnormal_lysosome_physiology0.98842862
104MP0002234_abnormal_pharynx_morphology0.98682136
105MP0001764_abnormal_homeostasis0.98275357
106MP0003878_abnormal_ear_physiology0.96813516
107MP0005377_hearing/vestibular/ear_phenot0.96813516
108MP0005195_abnormal_posterior_eye0.96224751
109MP0005076_abnormal_cell_differentiation0.95198878
110MP0003718_maternal_effect0.92904958
111MP0010234_abnormal_vibrissa_follicle0.91449109
112MP0001119_abnormal_female_reproductive0.91074327
113MP0006072_abnormal_retinal_apoptosis0.90463890
114MP0002210_abnormal_sex_determination0.90462699
115MP0001440_abnormal_grooming_behavior0.89995410
116MP0003861_abnormal_nervous_system0.89693544
117MP0004036_abnormal_muscle_relaxation0.89344817
118MP0003632_abnormal_nervous_system0.88941763
119MP0002269_muscular_atrophy0.88342979
120MP0003077_abnormal_cell_cycle0.88104233
121MP0003693_abnormal_embryo_hatching0.87247305
122MP0003942_abnormal_urinary_system0.86267167
123MP0001663_abnormal_digestive_system0.86047309
124MP0003252_abnormal_bile_duct0.84877486
125MP0008932_abnormal_embryonic_tissue0.82903730
126MP0002163_abnormal_gland_morphology0.81763351
127MP0008775_abnormal_heart_ventricle0.80485318
128MP0001905_abnormal_dopamine_level0.79513950
129MP0002069_abnormal_eating/drinking_beha0.79468898
130MP0005253_abnormal_eye_physiology0.78220222
131MP0005499_abnormal_olfactory_system0.77335956
132MP0005394_taste/olfaction_phenotype0.77335956
133MP0002638_abnormal_pupillary_reflex0.76472515
134MP0000747_muscle_weakness0.76267784
135MP0002693_abnormal_pancreas_physiology0.75969535
136MP0000026_abnormal_inner_ear0.75778350
137MP0004885_abnormal_endolymph0.75356802
138MP0009384_cardiac_valve_regurgitation0.75210797
139MP0001730_embryonic_growth_arrest0.75111378
140MP0001145_abnormal_male_reproductive0.74631301
141MP0001348_abnormal_lacrimal_gland0.73054204
142MP0002229_neurodegeneration0.72737073
143MP0005464_abnormal_platelet_physiology0.72095766
144MP0005197_abnormal_uvea_morphology0.71684079
145MP0003755_abnormal_palate_morphology0.71061458
146MP0001873_stomach_inflammation0.70869298
147MP0010769_abnormal_survival0.70239188
148MP0009250_abnormal_appendicular_skeleto0.70186513
149MP0000653_abnormal_sex_gland0.70122713
150MP0009672_abnormal_birth_weight0.69459690
151MP0004142_abnormal_muscle_tone0.69424180
152MP0009333_abnormal_splenocyte_physiolog0.69380754
153MP0003385_abnormal_body_wall0.69273687
154MP0008058_abnormal_DNA_repair0.69149810
155MP0004233_abnormal_muscle_weight0.69010241
156MP0009764_decreased_sensitivity_to0.68978083
157MP0005381_digestive/alimentary_phenotyp0.68796118
158MP0003634_abnormal_glial_cell0.67388136
159MP0010768_mortality/aging0.67085156
160MP0002082_postnatal_lethality0.65965238
161MP0010770_preweaning_lethality0.65965238
162MP0005551_abnormal_eye_electrophysiolog0.65707118
163MP0003183_abnormal_peptide_metabolism0.65583498
164MP0001929_abnormal_gametogenesis0.65405054
165MP0000685_abnormal_immune_system0.65004754
166MP0002928_abnormal_bile_duct0.64860081
167MP0002752_abnormal_somatic_nervous0.64738228
168MP0010368_abnormal_lymphatic_system0.64048958
169MP0006054_spinal_hemorrhage0.63240214
170MP0005391_vision/eye_phenotype0.62154494
171MP0003698_abnormal_male_reproductive0.60905793

Predicted human phenotypes

RankGene SetZ-score
1Fibular aplasia (HP:0002990)5.35629683
2Reticulocytopenia (HP:0001896)5.30870916
3Asymmetry of the thorax (HP:0001555)4.52188210
4Hepatocellular necrosis (HP:0001404)3.61373147
5Partial agenesis of the corpus callosum (HP:0001338)3.48205155
6Retinal dysplasia (HP:0007973)3.44210215
7Abnormality of cells of the erythroid lineage (HP:0012130)3.43291244
8Broad distal phalanx of finger (HP:0009836)3.41205715
9Abnormality of midbrain morphology (HP:0002418)3.33236283
10Molar tooth sign on MRI (HP:0002419)3.33236283
11Mitochondrial inheritance (HP:0001427)3.31000278
12Abnormal rod and cone electroretinograms (HP:0008323)3.28472540
13Increased serum pyruvate (HP:0003542)3.25661677
14Abnormal number of erythroid precursors (HP:0012131)3.25143217
15Papilledema (HP:0001085)3.22870800
16Abnormal mitochondria in muscle tissue (HP:0008316)3.17669089
17Acute encephalopathy (HP:0006846)3.10901030
18Hyperacusis (HP:0010780)3.09324186
19Acute necrotizing encephalopathy (HP:0006965)3.04714415
20Absent rod-and cone-mediated responses on ERG (HP:0007688)3.03577321
21Increased CSF lactate (HP:0002490)3.02647513
22Hepatic necrosis (HP:0002605)3.01298882
23Hypoglycemic seizures (HP:0002173)2.98947134
24Visual hallucinations (HP:0002367)2.96229677
25Abnormality of DNA repair (HP:0003254)2.92979224
26Macroorchidism (HP:0000053)2.90035796
27Focal motor seizures (HP:0011153)2.89222855
28Chronic hepatic failure (HP:0100626)2.84959798
29Ependymoma (HP:0002888)2.84659212
30Duplicated collecting system (HP:0000081)2.84423447
3111 pairs of ribs (HP:0000878)2.83908028
32Pancreatic fibrosis (HP:0100732)2.81711101
33Absent thumb (HP:0009777)2.77315858
34Focal seizures (HP:0007359)2.75522806
35Anal stenosis (HP:0002025)2.73795015
36Medial flaring of the eyebrow (HP:0010747)2.73143807
37Hyperglycinemia (HP:0002154)2.71198691
38Abnormality of glycolysis (HP:0004366)2.70969332
39Type II lissencephaly (HP:0007260)2.67193848
40Myokymia (HP:0002411)2.66173448
41Brushfield spots (HP:0001088)2.63168225
42Aplasia involving bones of the extremities (HP:0009825)2.61102431
43Aplasia involving bones of the upper limbs (HP:0009823)2.61102431
44Aplasia of the phalanges of the hand (HP:0009802)2.61102431
45Epileptic encephalopathy (HP:0200134)2.57127552
46Occipital encephalocele (HP:0002085)2.54843313
47True hermaphroditism (HP:0010459)2.53636366
48Abnormality of the renal collecting system (HP:0004742)2.52928533
49Poor eye contact (HP:0000817)2.50659242
50Action tremor (HP:0002345)2.45011954
51Tubulointerstitial nephritis (HP:0001970)2.44168578
52Depression (HP:0000716)2.43763310
53Abnormality of the astrocytes (HP:0100707)2.43201728
54Astrocytoma (HP:0009592)2.43201728
55Pointed chin (HP:0000307)2.42310698
56Pallor (HP:0000980)2.41091883
57Brittle hair (HP:0002299)2.40270188
58Nephronophthisis (HP:0000090)2.40232339
59Insomnia (HP:0100785)2.37288725
60Ectopic kidney (HP:0000086)2.36871473
61Increased serum lactate (HP:0002151)2.36101974
62Congenital primary aphakia (HP:0007707)2.34744221
63Congenital stationary night blindness (HP:0007642)2.29381370
64Impaired social interactions (HP:0000735)2.29113806
65Abnormal social behavior (HP:0012433)2.29113806
66Nasal speech (HP:0001611)2.28375744
67Progressive macrocephaly (HP:0004481)2.27794445
68Delayed closure of the anterior fontanelle (HP:0001476)2.27136026
69Truncal ataxia (HP:0002078)2.26382406
70Aplastic anemia (HP:0001915)2.25534947
71Horseshoe kidney (HP:0000085)2.24869267
72Adrenal hypoplasia (HP:0000835)2.23180689
73Nephrogenic diabetes insipidus (HP:0009806)2.22445697
74Gait imbalance (HP:0002141)2.22398515
75Microvesicular hepatic steatosis (HP:0001414)2.20103169
76Abnormality of the pons (HP:0007361)2.19855100
77Pancreatic cysts (HP:0001737)2.18595387
78Neoplasm of the heart (HP:0100544)2.18284658
79Hypoplasia of the pons (HP:0012110)2.18092800
80Pancytopenia (HP:0001876)2.17272077
81Optic nerve coloboma (HP:0000588)2.15637133
82Aplasia/Hypoplasia of the fibula (HP:0006492)2.14780194
83Elfin facies (HP:0004428)2.12564496
84Febrile seizures (HP:0002373)2.11837049
85Macrocytic anemia (HP:0001972)2.10877253
86Abnormality of the vertebral endplates (HP:0005106)2.10014068
87Rib fusion (HP:0000902)2.09425346
88Lactic acidosis (HP:0003128)2.09175618
89Hemiplegia (HP:0002301)2.07845298
90Aplasia/Hypoplasia of the tongue (HP:0010295)2.07765860
91Postural instability (HP:0002172)2.07502869
92Natal tooth (HP:0000695)2.07064706
93Abnormality of the labia minora (HP:0012880)2.02090336
94Tented upper lip vermilion (HP:0010804)2.01442880
95Postaxial foot polydactyly (HP:0001830)2.01323209
96Asplenia (HP:0001746)2.00660373
97Abnormality of the heme biosynthetic pathway (HP:0010472)2.00326960
98Cutaneous finger syndactyly (HP:0010554)2.00249337
99Abnormality of alanine metabolism (HP:0010916)1.99976714
100Hyperalaninemia (HP:0003348)1.99976714
101Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.99976714
102Obsessive-compulsive behavior (HP:0000722)1.99965232
103Hyperinsulinemic hypoglycemia (HP:0000825)1.98892191
104Impaired smooth pursuit (HP:0007772)1.98416591
105Aplasia/Hypoplasia of the spleen (HP:0010451)1.98409138
106Cerebellar dysplasia (HP:0007033)1.98306544
107Stereotypic behavior (HP:0000733)1.97400651
108Aplasia/Hypoplasia of the sacrum (HP:0008517)1.97396992
109Sclerocornea (HP:0000647)1.96667304
110Symptomatic seizures (HP:0011145)1.96289030
111Bradykinesia (HP:0002067)1.94031832
112Amblyopia (HP:0000646)1.93962526
113Type 2 muscle fiber atrophy (HP:0003554)1.93111199
114Tracheomalacia (HP:0002779)1.92103758
115Hypoplasia of the brainstem (HP:0002365)1.91948603
116Aplasia/Hypoplasia of the brainstem (HP:0007362)1.91948603
117Abolished electroretinogram (ERG) (HP:0000550)1.91701749
118Flat capital femoral epiphysis (HP:0003370)1.91440381
119Anencephaly (HP:0002323)1.91417935
120Hypsarrhythmia (HP:0002521)1.90697381
121Wrist flexion contracture (HP:0001239)1.90373417
122Abnormality of reticulocytes (HP:0004312)1.90205689
123EEG with generalized epileptiform discharges (HP:0011198)1.89984908
124Elevated erythrocyte sedimentation rate (HP:0003565)1.89332132
125Abnormality of the lower motor neuron (HP:0002366)1.88103349
126Cerebral edema (HP:0002181)1.87866495
127Medulloblastoma (HP:0002885)1.87312259
128Abnormality of chromosome segregation (HP:0002916)1.87154389
129Chromosomal breakage induced by crosslinking agents (HP:0003221)1.87112113
130Irregular vertebral endplates (HP:0003301)1.86611120
131Chronic otitis media (HP:0000389)1.86422880
132Epileptiform EEG discharges (HP:0011182)1.86121064
133Overriding aorta (HP:0002623)1.84743236
134Limb hypertonia (HP:0002509)1.84066023
135Cystic liver disease (HP:0006706)1.84038080
136Muscle fiber atrophy (HP:0100295)1.83850511
137Glioma (HP:0009733)1.83686874
138Ankle clonus (HP:0011448)1.83255920
139Colon cancer (HP:0003003)1.83134972
140Increased nuchal translucency (HP:0010880)1.82307065
141Abnormality of the fingertips (HP:0001211)1.81448191
142Atonic seizures (HP:0010819)1.80693496
143Autism (HP:0000717)1.80480901
144Abnormality of the phalanges of the 5th finger (HP:0004213)1.79793551
145Congenital, generalized hypertrichosis (HP:0004540)1.79659923
146Ankyloglossia (HP:0010296)1.78805841
147Protruding tongue (HP:0010808)1.78637215
148Panhypogammaglobulinemia (HP:0003139)1.77913843
149Cutaneous syndactyly (HP:0012725)1.77525425
150Aplasia/Hypoplasia of the tibia (HP:0005772)1.77052884
151Flat cornea (HP:0007720)1.77028446
152Sacral dimple (HP:0000960)1.76936106
153Dialeptic seizures (HP:0011146)1.76749900
154Bundle branch block (HP:0011710)1.76566259
155* Thoracic kyphosis (HP:0002942)1.76483807
156Absence seizures (HP:0002121)1.76316889
157Attention deficit hyperactivity disorder (HP:0007018)1.76220427
158Failure to thrive in infancy (HP:0001531)1.76214251
159Poor head control (HP:0002421)1.74936868
160Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.74862304
161Fibular hypoplasia (HP:0003038)1.74843575
162Abnormality of ocular smooth pursuit (HP:0000617)1.74233303
163Aqueductal stenosis (HP:0002410)1.74097020
164Abnormality of the renal medulla (HP:0100957)1.73409801
165Lower limb asymmetry (HP:0100559)1.72858993
166Renal duplication (HP:0000075)1.72413341
167Abnormality of the anterior horn cell (HP:0006802)1.71956336
168Degeneration of anterior horn cells (HP:0002398)1.71956336
169Mesangial abnormality (HP:0001966)1.71857235
170Optic disc pallor (HP:0000543)1.71517091
171Nasal polyposis (HP:0100582)1.71371892
172Aganglionic megacolon (HP:0002251)1.71046699
173Spinal canal stenosis (HP:0003416)1.70938869
174Lissencephaly (HP:0001339)1.70501194
175Meckel diverticulum (HP:0002245)1.70398501
176Abnormality of the ileum (HP:0001549)1.70388558
177Methylmalonic aciduria (HP:0012120)1.70386149
178Decreased subcutaneous fat (HP:0001002)1.69668182
179Duplication of thumb phalanx (HP:0009942)1.69302402
180* Neutropenia (HP:0001875)1.68757603
181Annular pancreas (HP:0001734)1.67831580
182Apathy (HP:0000741)1.67816613
183Broad ribs (HP:0000885)1.67774120
184Oral leukoplakia (HP:0002745)1.67289307
185Decreased electroretinogram (ERG) amplitude (HP:0000654)1.66979285
186Depressed nasal ridge (HP:0000457)1.66877426
187Broad-based gait (HP:0002136)1.66550138
188Supranuclear gaze palsy (HP:0000605)1.66377358
189Constricted visual fields (HP:0001133)1.65976768
190Pancreatic islet-cell hyperplasia (HP:0004510)1.65703765
191Neonatal hypoglycemia (HP:0001998)1.65116580
192Renovascular hypertension (HP:0100817)1.63496894
193Chromsome breakage (HP:0040012)1.61333312
194Short 4th metacarpal (HP:0010044)1.60955271
195Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.60955271
196Generalized tonic-clonic seizures (HP:0002069)1.60622895

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK35.62837225
2NTRK33.48463634
3CDC73.19272605
4CCNB13.18432150
5VRK23.08163596
6PDK23.04857377
7BCKDK2.97533247
8TXK2.86364127
9SGK22.65148346
10ADRBK22.64597746
11STK162.49692396
12MAP4K22.39630530
13SGK32.39135053
14EPHA42.20357442
15EPHB22.12708579
16ZAK2.10893612
17SGK2232.05433623
18SGK4942.05433623
19SIK22.05272527
20PNCK2.04748792
21MAP3K42.04065769
22MINK11.98782274
23PIM21.96952905
24MARK11.90490050
25NUAK11.85186640
26NTRK21.84281456
27PAK61.81352037
28DYRK1B1.75718817
29TLK11.67976237
30CDK191.67843374
31EEF2K1.67834242
32NME21.67037132
33PRKD31.65723360
34MAP3K91.60163405
35DYRK21.60031100
36KDR1.59940720
37KSR11.58477825
38PASK1.58098173
39BRD41.57369367
40KIT1.56416493
41LIMK11.47676258
42KSR21.45767125
43DAPK21.41948650
44TESK21.39568438
45DYRK1A1.37922624
46VRK11.37699526
47TAF11.35513112
48MAPK131.34460572
49DAPK11.34130949
50TAOK21.33712294
51BUB11.32943697
52TSSK61.23523622
53UHMK11.22462127
54CAMK1G1.21291060
55MAP2K71.16579945
56CAMK1D1.15152460
57PHKG11.13571323
58PHKG21.13571323
59NEK11.13050756
60SCYL21.11121393
61CAMKK11.10504006
62BRSK11.08624322
63FES1.07837369
64CDK51.07220763
65ATR1.06280795
66MAP3K101.04223134
67GRK11.00457145
68STK380.99321769
69ALK0.96611205
70WNK40.93669111
71MARK30.91312759
72AURKA0.91121891
73RPS6KA20.89774587
74PLK10.88229371
75ARAF0.87110349
76FGFR20.86190130
77PDGFRA0.86035733
78INSRR0.84914781
79CDK80.84390626
80PLK40.80861497
81ITK0.80635893
82WNK30.80467887
83HIPK20.79760350
84FLT30.77248679
85TYRO30.76337381
86MAP3K110.76156034
87PINK10.76050705
88PKN20.75742838
89TTK0.73907998
90CHEK20.73418123
91RPS6KA60.72650557
92LMTK20.71075714
93MAP2K40.71071545
94BTK0.70827119
95CDK120.70695225
96RAF10.70233502
97NEK90.70107023
98MAP3K20.69825581
99BRSK20.68496301
100TAOK10.67452054
101TRIB30.67322862
102SGK10.66735372
103JAK30.66621573
104NTRK10.66600021
105DYRK30.66572358
106TGFBR10.66264918
107EIF2AK30.66250919
108DMPK0.65420217
109TEC0.65161186
110PDK10.64128648
111PRKCH0.63591985
112PRKCI0.63394849
113STK110.62928748
114CDK180.62419413
115CDK150.61579126
116CHEK10.61577922
117AKT20.60922541
118CAMK40.60718940
119PRKCQ0.60711976
120MAPK90.60318599
121MARK20.59723605
122RPS6KB10.59704873
123RET0.59608569
124CDC42BPA0.59547778
125CDK10.58054895
126ADRBK10.57898135
127PLK30.57338707
128MAP4K10.57336663
129NME10.56402718
130NEK20.56201787
131CDK11A0.55883978
132RPS6KA30.55330072
133SYK0.55170461
134MAPK100.55148510
135ABL20.53577199
136CDK20.53537457
137RPS6KL10.52835403
138RPS6KC10.52835403
139MAP2K20.52477973
140AURKB0.52467635
141RPS6KA50.51093521
142BRAF0.51017573
143GSK3B0.50881779
144PRKCG0.50201729
145CAMKK20.49798597
146IKBKB0.49032414
147DAPK30.47809009
148MAPK80.47798237
149PBK0.47795035
150FRK0.47623559
151MAP3K80.46544119
152MAPK120.44651310
153CSNK1G30.44302360
154SRPK10.43963909
155MTOR0.43374178
156AKT10.43340448
157PRKDC0.43254614
158PRKAA10.42771276
159TIE10.42166909
160RPS6KA40.41802402
161MAPK70.41747438
162LYN0.40210776
163WNK10.38735880
164ATM0.38617097
165PRKD20.38226888
166MAPKAPK30.36395534
167CSNK2A10.36185465
168CSNK2A20.35298300
169CSF1R0.35094596
170MKNK10.34554606
171ERN10.33253498
172CDK40.32636543
173LCK0.30637160
174PAK20.30264719

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.17492862
2Proteasome_Homo sapiens_hsa030503.37470562
3Oxidative phosphorylation_Homo sapiens_hsa001903.01720569
4Parkinsons disease_Homo sapiens_hsa050122.96936221
5Nicotine addiction_Homo sapiens_hsa050332.75408582
6Homologous recombination_Homo sapiens_hsa034402.59349417
7RNA polymerase_Homo sapiens_hsa030202.55739454
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.53762381
9Long-term potentiation_Homo sapiens_hsa047202.32271302
10Olfactory transduction_Homo sapiens_hsa047402.29621299
11Fanconi anemia pathway_Homo sapiens_hsa034602.27834085
12Circadian entrainment_Homo sapiens_hsa047132.23586651
13Insulin secretion_Homo sapiens_hsa049112.21018096
14Synaptic vesicle cycle_Homo sapiens_hsa047212.14680062
15Huntingtons disease_Homo sapiens_hsa050162.13665291
16Basal transcription factors_Homo sapiens_hsa030222.11595008
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.10941617
18Type II diabetes mellitus_Homo sapiens_hsa049302.03708101
19Selenocompound metabolism_Homo sapiens_hsa004502.01720936
20Amphetamine addiction_Homo sapiens_hsa050311.98116692
21Cocaine addiction_Homo sapiens_hsa050301.95509124
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.93635636
23Nucleotide excision repair_Homo sapiens_hsa034201.92781556
24Glutamatergic synapse_Homo sapiens_hsa047241.92621125
25Protein export_Homo sapiens_hsa030601.90279859
26GABAergic synapse_Homo sapiens_hsa047271.89980460
27Morphine addiction_Homo sapiens_hsa050321.85848114
28Circadian rhythm_Homo sapiens_hsa047101.74725327
29Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.72998346
30Dopaminergic synapse_Homo sapiens_hsa047281.71325648
31Taste transduction_Homo sapiens_hsa047421.70554089
32Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.68920645
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.66448373
34Alzheimers disease_Homo sapiens_hsa050101.65313698
35Cholinergic synapse_Homo sapiens_hsa047251.63412769
36Caffeine metabolism_Homo sapiens_hsa002321.60450632
37RNA degradation_Homo sapiens_hsa030181.59408193
38Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.59004866
39Aldosterone synthesis and secretion_Homo sapiens_hsa049251.54289349
40Propanoate metabolism_Homo sapiens_hsa006401.52866226
41Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.52096689
42Pyrimidine metabolism_Homo sapiens_hsa002401.51761960
43Pyruvate metabolism_Homo sapiens_hsa006201.49797873
44Fatty acid elongation_Homo sapiens_hsa000621.47914942
45Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.47445415
46Peroxisome_Homo sapiens_hsa041461.45142582
47Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.44998101
48Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.42949997
49Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.41083750
50Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.37610439
51Oxytocin signaling pathway_Homo sapiens_hsa049211.37100314
52Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.34743409
53Oocyte meiosis_Homo sapiens_hsa041141.34701417
54Sulfur relay system_Homo sapiens_hsa041221.33552713
55Phosphatidylinositol signaling system_Homo sapiens_hsa040701.30623014
56Salivary secretion_Homo sapiens_hsa049701.24843359
57Gap junction_Homo sapiens_hsa045401.22519533
58Steroid biosynthesis_Homo sapiens_hsa001001.21449262
59Carbohydrate digestion and absorption_Homo sapiens_hsa049731.20934539
60Thyroid hormone signaling pathway_Homo sapiens_hsa049191.19012613
61Long-term depression_Homo sapiens_hsa047301.16959536
62Estrogen signaling pathway_Homo sapiens_hsa049151.16036581
63cGMP-PKG signaling pathway_Homo sapiens_hsa040221.15898235
64Cardiac muscle contraction_Homo sapiens_hsa042601.15801506
65Renin secretion_Homo sapiens_hsa049241.13351510
66Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.12421707
67Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.11136609
68Glioma_Homo sapiens_hsa052141.08003384
69Calcium signaling pathway_Homo sapiens_hsa040201.07632090
70mTOR signaling pathway_Homo sapiens_hsa041501.07541119
71GnRH signaling pathway_Homo sapiens_hsa049121.05723913
72mRNA surveillance pathway_Homo sapiens_hsa030151.04552068
73Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.04314593
74Serotonergic synapse_Homo sapiens_hsa047261.04283465
75N-Glycan biosynthesis_Homo sapiens_hsa005101.03396799
76cAMP signaling pathway_Homo sapiens_hsa040241.03103946
77Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.02938700
78Purine metabolism_Homo sapiens_hsa002301.02856589
79Primary immunodeficiency_Homo sapiens_hsa053401.02000290
80Butanoate metabolism_Homo sapiens_hsa006501.00239631
81Non-small cell lung cancer_Homo sapiens_hsa052230.99948795
82Mismatch repair_Homo sapiens_hsa034300.98658863
83Maturity onset diabetes of the young_Homo sapiens_hsa049500.95745462
84Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.95433875
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.95244556
86Gastric acid secretion_Homo sapiens_hsa049710.92813177
87Colorectal cancer_Homo sapiens_hsa052100.92766086
88Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.91938140
89Glucagon signaling pathway_Homo sapiens_hsa049220.91645524
90Antigen processing and presentation_Homo sapiens_hsa046120.90753405
91Regulation of autophagy_Homo sapiens_hsa041400.89762593
92Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.89568581
93Melanogenesis_Homo sapiens_hsa049160.88524394
94MAPK signaling pathway_Homo sapiens_hsa040100.86357706
95Biosynthesis of amino acids_Homo sapiens_hsa012300.86323926
96Carbon metabolism_Homo sapiens_hsa012000.84686017
97Dilated cardiomyopathy_Homo sapiens_hsa054140.84065361
98Cell cycle_Homo sapiens_hsa041100.82974716
99Alcoholism_Homo sapiens_hsa050340.82258975
100Wnt signaling pathway_Homo sapiens_hsa043100.81693442
101ErbB signaling pathway_Homo sapiens_hsa040120.80948790
102DNA replication_Homo sapiens_hsa030300.80622192
103Metabolic pathways_Homo sapiens_hsa011000.80587380
104Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80552256
105Cysteine and methionine metabolism_Homo sapiens_hsa002700.79658824
106Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.79334283
107Intestinal immune network for IgA production_Homo sapiens_hsa046720.78223873
108Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.77318209
109alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.74085241
110Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.74084473
111Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.73962053
112Base excision repair_Homo sapiens_hsa034100.73516926
113Ether lipid metabolism_Homo sapiens_hsa005650.73514713
114Chronic myeloid leukemia_Homo sapiens_hsa052200.72637326
115Tryptophan metabolism_Homo sapiens_hsa003800.72287476
116Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.71545187
117Inositol phosphate metabolism_Homo sapiens_hsa005620.71376638
118Fatty acid metabolism_Homo sapiens_hsa012120.70225238
119Insulin signaling pathway_Homo sapiens_hsa049100.69988407
120Insulin resistance_Homo sapiens_hsa049310.69184752
121Endometrial cancer_Homo sapiens_hsa052130.68550004
122Phototransduction_Homo sapiens_hsa047440.68356615
123Asthma_Homo sapiens_hsa053100.68275402
124Central carbon metabolism in cancer_Homo sapiens_hsa052300.67430153
125Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.66948372
126Phospholipase D signaling pathway_Homo sapiens_hsa040720.66499291
127Thyroid hormone synthesis_Homo sapiens_hsa049180.66089065
128Vibrio cholerae infection_Homo sapiens_hsa051100.65093249
129Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.64548580
130Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.63891382
131B cell receptor signaling pathway_Homo sapiens_hsa046620.63231552
132One carbon pool by folate_Homo sapiens_hsa006700.62519188
133Pancreatic cancer_Homo sapiens_hsa052120.62385954
134Primary bile acid biosynthesis_Homo sapiens_hsa001200.61784574
135Longevity regulating pathway - mammal_Homo sapiens_hsa042110.61557395
136Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.60374087
137Vascular smooth muscle contraction_Homo sapiens_hsa042700.59680101
138Lysine degradation_Homo sapiens_hsa003100.58845485
139Glycosaminoglycan degradation_Homo sapiens_hsa005310.57884344
140Linoleic acid metabolism_Homo sapiens_hsa005910.56974891
141Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.56644977
1422-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.55104412
143Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.54652363
144VEGF signaling pathway_Homo sapiens_hsa043700.54553439
145Renal cell carcinoma_Homo sapiens_hsa052110.54416396
146Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.53812955
147Fatty acid degradation_Homo sapiens_hsa000710.51173709
148Allograft rejection_Homo sapiens_hsa053300.50119939
149Spliceosome_Homo sapiens_hsa030400.49959499
150RNA transport_Homo sapiens_hsa030130.49949693
151Glutathione metabolism_Homo sapiens_hsa004800.49727942
152Non-homologous end-joining_Homo sapiens_hsa034500.49582374
153Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46944517
154Axon guidance_Homo sapiens_hsa043600.46673435
155Epstein-Barr virus infection_Homo sapiens_hsa051690.46277007
156Choline metabolism in cancer_Homo sapiens_hsa052310.46121171
157Nitrogen metabolism_Homo sapiens_hsa009100.44334533
158Type I diabetes mellitus_Homo sapiens_hsa049400.44098858
159Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.44069479
160HTLV-I infection_Homo sapiens_hsa051660.43979277
161Dorso-ventral axis formation_Homo sapiens_hsa043200.43881667
162Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43802541
163Prolactin signaling pathway_Homo sapiens_hsa049170.43522284
164Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.40867152
165p53 signaling pathway_Homo sapiens_hsa041150.36187579
166Autoimmune thyroid disease_Homo sapiens_hsa053200.34950092
167Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.34527913
168Chemical carcinogenesis_Homo sapiens_hsa052040.31207343
169Folate biosynthesis_Homo sapiens_hsa007900.29989248
170Vitamin digestion and absorption_Homo sapiens_hsa049770.27721892
171SNARE interactions in vesicular transport_Homo sapiens_hsa041300.27335227
172Rheumatoid arthritis_Homo sapiens_hsa053230.26736934
173Graft-versus-host disease_Homo sapiens_hsa053320.26736212
174Basal cell carcinoma_Homo sapiens_hsa052170.26610962
175Sulfur metabolism_Homo sapiens_hsa009200.23783190
176Hematopoietic cell lineage_Homo sapiens_hsa046400.22483067
177Galactose metabolism_Homo sapiens_hsa000520.19882165
178beta-Alanine metabolism_Homo sapiens_hsa004100.19737590
179Lysosome_Homo sapiens_hsa041420.19406221
180Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.18947387
181Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.18475945

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