GATAD1

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 contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1heart contraction (GO:0060047)6.64535025
2heart process (GO:0003015)6.64535025
3behavioral response to nicotine (GO:0035095)4.97092303
4glomerulus development (GO:0032835)4.34416808
5epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.24710635
6inositol phosphate catabolic process (GO:0071545)4.22842639
7oxidative phosphorylation (GO:0006119)4.18664200
8removal of superoxide radicals (GO:0019430)4.09198039
9cellular response to superoxide (GO:0071451)4.09198039
10cellular response to oxygen radical (GO:0071450)4.09198039
11nephron epithelium morphogenesis (GO:0072088)4.01880614
12nephron tubule morphogenesis (GO:0072078)4.01880614
13neurofilament cytoskeleton organization (GO:0060052)3.86135598
14negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.84686852
15negative regulation of striated muscle cell apoptotic process (GO:0010664)3.77036157
16regulation of relaxation of muscle (GO:1901077)3.74838719
17kidney morphogenesis (GO:0060993)3.70451223
18DNA ligation (GO:0006266)3.69358703
19indole-containing compound catabolic process (GO:0042436)3.61900773
20indolalkylamine catabolic process (GO:0046218)3.61900773
21tryptophan catabolic process (GO:0006569)3.61900773
22proteasome assembly (GO:0043248)3.60583499
23negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.57227935
24bone remodeling (GO:0046849)3.56570982
25negative regulation of viral genome replication (GO:0045071)3.53681852
26negative regulation of dendrite morphogenesis (GO:0050774)3.53178741
27negative regulation of skeletal muscle tissue development (GO:0048642)3.49100554
28positive regulation of mitochondrial fission (GO:0090141)3.43380404
29relaxation of smooth muscle (GO:0044557)3.43370099
30detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.39250788
31IMP biosynthetic process (GO:0006188)3.38234867
32phosphorylated carbohydrate dephosphorylation (GO:0046838)3.36558372
33inositol phosphate dephosphorylation (GO:0046855)3.36558372
34regulation of gene silencing by RNA (GO:0060966)3.36318281
35regulation of posttranscriptional gene silencing (GO:0060147)3.36318281
36regulation of gene silencing by miRNA (GO:0060964)3.36318281
37cullin deneddylation (GO:0010388)3.36284154
38nonmotile primary cilium assembly (GO:0035058)3.35472826
39L-fucose catabolic process (GO:0042355)3.35221152
40fucose catabolic process (GO:0019317)3.35221152
41L-fucose metabolic process (GO:0042354)3.35221152
42negative regulation of translation, ncRNA-mediated (GO:0040033)3.35122070
43regulation of translation, ncRNA-mediated (GO:0045974)3.35122070
44negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.35122070
45hydrogen peroxide biosynthetic process (GO:0050665)3.33858560
46cell differentiation involved in metanephros development (GO:0072202)3.30933484
47axoneme assembly (GO:0035082)3.30345101
48epithelial cilium movement (GO:0003351)3.28809897
49indolalkylamine metabolic process (GO:0006586)3.28800944
50protein localization to cilium (GO:0061512)3.24265114
51renal tubule morphogenesis (GO:0061333)3.23090741
52muscle filament sliding (GO:0030049)3.23040423
53actin-myosin filament sliding (GO:0033275)3.23040423
54metanephric mesenchyme development (GO:0072075)3.22141547
55definitive hemopoiesis (GO:0060216)3.19759256
56appendage development (GO:0048736)3.18293807
57limb development (GO:0060173)3.18293807
58negative regulation of release of cytochrome c from mitochondria (GO:0090201)3.17635156
59protein refolding (GO:0042026)3.12691061
60actin-mediated cell contraction (GO:0070252)3.12151949
61somite development (GO:0061053)3.12076081
62superoxide anion generation (GO:0042554)3.10469443
63positive regulation of response to oxidative stress (GO:1902884)3.10163644
64positive regulation of cellular response to oxidative stress (GO:1900409)3.10163644
65ribosomal small subunit assembly (GO:0000028)3.08498112
66reactive oxygen species biosynthetic process (GO:1903409)3.05361861
67regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.01211635
68regulation of hippo signaling (GO:0035330)3.00835229
69platelet dense granule organization (GO:0060155)3.00727392
70cilium movement (GO:0003341)3.00493996
71neural tube formation (GO:0001841)3.00314607
72polyketide metabolic process (GO:0030638)2.95553766
73doxorubicin metabolic process (GO:0044598)2.95553766
74daunorubicin metabolic process (GO:0044597)2.95553766
75sequestering of actin monomers (GO:0042989)2.95024871
76atrial septum morphogenesis (GO:0060413)2.94869685
77nuclear pore complex assembly (GO:0051292)2.94808416
78negative regulation of membrane potential (GO:0045837)2.94677345
79negative regulation of calcium ion transport into cytosol (GO:0010523)2.92602476
80IMP metabolic process (GO:0046040)2.92276477
81otic vesicle formation (GO:0030916)2.92115541
82kynurenine metabolic process (GO:0070189)2.91865762
83myelin assembly (GO:0032288)2.91678313
84kidney mesenchyme development (GO:0072074)2.90777611
85regulation of cell maturation (GO:1903429)2.90237219
86response to superoxide (GO:0000303)2.88380933
87photoreceptor cell maintenance (GO:0045494)2.87684209
88cardiac muscle tissue morphogenesis (GO:0055008)2.87303601
89cilium organization (GO:0044782)2.86638747
90behavioral response to ethanol (GO:0048149)2.86496579
91cilium morphogenesis (GO:0060271)2.85391773
92omega-hydroxylase P450 pathway (GO:0097267)2.85372043
93protein retention in ER lumen (GO:0006621)2.85316296
94regulation of pigment cell differentiation (GO:0050932)2.85009851
95protein deneddylation (GO:0000338)2.84479710
96cilium or flagellum-dependent cell motility (GO:0001539)2.84465190
97regulation of protein heterodimerization activity (GO:0043497)2.83876507
98signal peptide processing (GO:0006465)2.82849070
99cilium assembly (GO:0042384)2.82308513
100cytochrome complex assembly (GO:0017004)2.81171204
101neuronal stem cell maintenance (GO:0097150)2.80300931
102water-soluble vitamin biosynthetic process (GO:0042364)2.78685382
103regulation of male gonad development (GO:2000018)2.78443115
104ribonucleoprotein complex disassembly (GO:0032988)2.78250864
105interkinetic nuclear migration (GO:0022027)2.75847823
106positive regulation of male gonad development (GO:2000020)2.75632391
107tryptophan metabolic process (GO:0006568)2.73560963
108embryonic process involved in female pregnancy (GO:0060136)2.72475744
109ventricular cardiac muscle tissue morphogenesis (GO:0055010)2.71895050
110cellular ketone body metabolic process (GO:0046950)2.71570130
111negative regulation of cytosolic calcium ion concentration (GO:0051481)2.70531153
112auditory receptor cell differentiation (GO:0042491)2.69241679
113response to pheromone (GO:0019236)2.69038005
114sympathetic nervous system development (GO:0048485)2.67962870
115nuclear pore organization (GO:0006999)2.66529017
116organelle disassembly (GO:1903008)2.64726473
117positive regulation of interferon-alpha production (GO:0032727)2.64538326
118polyol catabolic process (GO:0046174)2.62135677
119detection of light stimulus involved in sensory perception (GO:0050962)2.62074942
120detection of light stimulus involved in visual perception (GO:0050908)2.62074942
121maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.61486469
122aerobic respiration (GO:0009060)2.61445600
123motile cilium assembly (GO:0044458)2.60870472
124cell proliferation in forebrain (GO:0021846)2.60849407
125regulation of non-canonical Wnt signaling pathway (GO:2000050)2.60707316
126ganglion development (GO:0061548)2.60161482
127regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.59287227
128nucleobase-containing small molecule interconversion (GO:0015949)2.59190096
129response to oxygen radical (GO:0000305)2.58684414
130respiratory chain complex IV assembly (GO:0008535)2.58150556
131negative regulation of DNA repair (GO:0045738)2.57052525
132protein neddylation (GO:0045116)2.56675978
133response to copper ion (GO:0046688)2.56305815
134mitochondrial calcium ion homeostasis (GO:0051560)2.55700129
135myoblast migration (GO:0051451)2.55331033
136aminoglycoside antibiotic metabolic process (GO:0030647)2.55326128
137peripheral nervous system neuron development (GO:0048935)2.55126918
138myoblast differentiation (GO:0045445)2.54718585
139positive regulation of developmental pigmentation (GO:0048087)2.54422332
140muscle tissue morphogenesis (GO:0060415)2.54120511
141regulation of action potential (GO:0098900)2.54114456
142neural crest cell development (GO:0014032)2.53818705
143mesenchymal cell development (GO:0014031)2.53731551
144limb bud formation (GO:0060174)2.52877769
145negative regulation of mitochondrion organization (GO:0010823)2.52858692
146protein import into peroxisome matrix (GO:0016558)2.52851394
147cardiac right ventricle morphogenesis (GO:0003215)2.52680765
148hindbrain development (GO:0030902)2.52255883
149neuron fate determination (GO:0048664)2.52214952
150protein complex biogenesis (GO:0070271)2.52107127
151DNA double-strand break processing (GO:0000729)2.50443233
152head development (GO:0060322)2.49086251
153pore complex assembly (GO:0046931)2.49062221
154regulation of cilium movement (GO:0003352)2.49044745
155negative regulation of transcription regulatory region DNA binding (GO:2000678)2.47945333
156central nervous system myelination (GO:0022010)2.46738269
157axon ensheathment in central nervous system (GO:0032291)2.46738269
158cardiac septum morphogenesis (GO:0060411)2.46648688
159regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.44659559
160regulation of hexokinase activity (GO:1903299)2.44302068
161regulation of glucokinase activity (GO:0033131)2.44302068
162smoothened signaling pathway (GO:0007224)2.44287607
163regulation of telomere maintenance (GO:0032204)2.42529883
164embryonic heart tube development (GO:0035050)2.42375704
165deoxyribose phosphate biosynthetic process (GO:0046385)2.42340365
1662-deoxyribonucleotide biosynthetic process (GO:0009265)2.42340365
167glucocorticoid receptor signaling pathway (GO:0042921)2.42307570
168replication fork processing (GO:0031297)2.41326677
169somite rostral/caudal axis specification (GO:0032525)2.40661930
170reflex (GO:0060004)2.40594277
171spinal cord development (GO:0021510)2.39432244
172aromatic amino acid family catabolic process (GO:0009074)2.38227435
173negative regulation of telomere maintenance (GO:0032205)2.37005179
174transmission of nerve impulse (GO:0019226)2.35630237
175startle response (GO:0001964)2.35200766
176cornea development in camera-type eye (GO:0061303)2.34897259
177G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.31779962
178presynaptic membrane assembly (GO:0097105)2.31708122
179negative regulation of DNA-dependent DNA replication (GO:2000104)2.31137669
180cardiovascular system development (GO:0072358)2.30978522
181ketone body metabolic process (GO:1902224)2.30391422
182spinal cord motor neuron differentiation (GO:0021522)2.30191868
183negative regulation of appetite (GO:0032099)2.30185266
184negative regulation of response to food (GO:0032096)2.30185266
185cellular component assembly involved in morphogenesis (GO:0010927)2.30082718
186cellular biogenic amine catabolic process (GO:0042402)2.30044796
187amine catabolic process (GO:0009310)2.30044796
188intraciliary transport (GO:0042073)2.29725356
189dopamine transport (GO:0015872)2.28820060
190axonemal dynein complex assembly (GO:0070286)2.28812599
191thyroid hormone metabolic process (GO:0042403)2.27298183
192response to nitrosative stress (GO:0051409)2.27045207
193positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.26665082
194indole-containing compound metabolic process (GO:0042430)2.26357658
195positive regulation of gastrulation (GO:2000543)2.25808305
196cellular response to ATP (GO:0071318)2.23336831
197negative regulation of astrocyte differentiation (GO:0048712)2.23209961
198left/right axis specification (GO:0070986)2.23092804
199determination of left/right symmetry (GO:0007368)2.22811664

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.48106562
2RBPJ_22232070_ChIP-Seq_NCS_Mouse4.31887480
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.22339664
4BP1_19119308_ChIP-ChIP_Hs578T_Human3.66878040
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.60212698
6ZNF274_21170338_ChIP-Seq_K562_Hela3.48986521
7ELF1_17652178_ChIP-ChIP_JURKAT_Human3.42986274
8VDR_22108803_ChIP-Seq_LS180_Human3.14431959
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.09631987
10EZH2_22144423_ChIP-Seq_EOC_Human3.09607935
11* ELK1_19687146_ChIP-ChIP_HELA_Human2.89498168
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.88001642
13GBX2_23144817_ChIP-Seq_PC3_Human2.78545171
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.61044212
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.50655672
16WT1_19549856_ChIP-ChIP_CCG9911_Human2.47910310
17ZFP57_27257070_Chip-Seq_ESCs_Mouse2.32774978
18PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.25211802
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.24307391
20TRIM28_21343339_ChIP-Seq_HEK293_Human2.24103583
21SRF_21415370_ChIP-Seq_HL-1_Mouse2.23798299
22IRF8_22096565_ChIP-ChIP_GC-B_Human2.23238483
23GABP_17652178_ChIP-ChIP_JURKAT_Human2.18054485
24CTBP2_25329375_ChIP-Seq_LNCAP_Human2.17753700
25SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.07579461
26IGF1R_20145208_ChIP-Seq_DFB_Human2.04527684
27ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.04474614
28GATA4_21415370_ChIP-Seq_HL-1_Mouse2.01503292
29* ER_23166858_ChIP-Seq_MCF-7_Human2.00833546
30PIAS1_25552417_ChIP-Seq_VCAP_Human1.98734180
31E2F4_17652178_ChIP-ChIP_JURKAT_Human1.98239584
32CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.97865753
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.96530281
34MYC_18555785_ChIP-Seq_MESCs_Mouse1.95902008
35* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.95078702
36FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.94582507
37HOXB4_20404135_ChIP-ChIP_EML_Mouse1.87223228
38CBX2_27304074_Chip-Seq_ESCs_Mouse1.80088682
39* BCAT_22108803_ChIP-Seq_LS180_Human1.78134120
40SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.77836198
41MYC_19030024_ChIP-ChIP_MESCs_Mouse1.75612004
42AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.75021671
43TAF15_26573619_Chip-Seq_HEK293_Human1.74621757
44AR_21909140_ChIP-Seq_LNCAP_Human1.70378484
45NELFA_20434984_ChIP-Seq_ESCs_Mouse1.70034391
46FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.68739514
47IRF1_19129219_ChIP-ChIP_H3396_Human1.67302760
48STAT3_23295773_ChIP-Seq_U87_Human1.64640700
49TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.63067616
50POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.63067616
51SALL4_18804426_ChIP-ChIP_XEN_Mouse1.62797187
52PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.62463845
53NR3C1_21868756_ChIP-Seq_MCF10A_Human1.60258500
54FLI1_27457419_Chip-Seq_LIVER_Mouse1.59756792
55SMAD4_21799915_ChIP-Seq_A2780_Human1.57888332
56POU3F2_20337985_ChIP-ChIP_501MEL_Human1.57697589
57MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.54788123
58TCF4_23295773_ChIP-Seq_U87_Human1.53808597
59E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.53569972
60MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.53004794
61ESR1_20079471_ChIP-ChIP_T-47D_Human1.53002657
62SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.50084865
63TOP2B_26459242_ChIP-Seq_MCF-7_Human1.50026692
64JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.48787912
65PCGF2_27294783_Chip-Seq_ESCs_Mouse1.48019086
66REST_21632747_ChIP-Seq_MESCs_Mouse1.47073709
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.46071891
68AR_25329375_ChIP-Seq_VCAP_Human1.45465295
69NANOG_16153702_ChIP-ChIP_HESCs_Human1.45222598
70MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.45042714
71* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.44264265
72RNF2_27304074_Chip-Seq_NSC_Mouse1.44155870
73UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.42703009
74SOX17_20123909_ChIP-Seq_XEN_Mouse1.42350522
75RARG_19884340_ChIP-ChIP_MEFs_Mouse1.41509830
76ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.40555935
77NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.39832458
78POU5F1_16153702_ChIP-ChIP_HESCs_Human1.39655166
79SMAD3_21741376_ChIP-Seq_EPCs_Human1.39307597
80PCGF2_27294783_Chip-Seq_NPCs_Mouse1.38749968
81AR_21572438_ChIP-Seq_LNCaP_Human1.38591663
82EZH2_27304074_Chip-Seq_ESCs_Mouse1.36329993
83NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.35082607
84CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.34854902
85* TCF4_22108803_ChIP-Seq_LS180_Human1.34044412
86TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33623749
87NRF2_20460467_ChIP-Seq_MEFs_Mouse1.32491531
88NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.32491531
89HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.31534579
90IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.31305688
91CBP_20019798_ChIP-Seq_JUKART_Human1.31305688
92MYC_18358816_ChIP-ChIP_MESCs_Mouse1.30666118
93NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.30466813
94EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.29773757
95JARID2_20064375_ChIP-Seq_MESCs_Mouse1.29584477
96RUNX2_22187159_ChIP-Seq_PCA_Human1.27960449
97ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.27483785
98MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.27238672
99RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27111744
100MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.25385458
101YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.25006342
102FUS_26573619_Chip-Seq_HEK293_Human1.23214482
103EED_16625203_ChIP-ChIP_MESCs_Mouse1.21752466
104TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21613285
105BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.20289377
106CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20264067
107TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.20040344
108SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19523002
109EP300_21415370_ChIP-Seq_HL-1_Mouse1.19227795
110SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.18776257
111SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.18776257
112EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.18037994
113PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.17765238
114KLF5_20875108_ChIP-Seq_MESCs_Mouse1.17375855
115SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.17062722
116FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.17000274
117THAP11_20581084_ChIP-Seq_MESCs_Mouse1.16469453
118SOX2_18555785_ChIP-Seq_MESCs_Mouse1.16445660
119TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.16235955
120EWS_26573619_Chip-Seq_HEK293_Human1.16188414
121NANOG_19829295_ChIP-Seq_ESCs_Human1.16070843
122SOX2_19829295_ChIP-Seq_ESCs_Human1.16070843
123ETV2_25802403_ChIP-Seq_MESCs_Mouse1.15655157
124TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.14980957
125SUZ12_27294783_Chip-Seq_NPCs_Mouse1.14701676
126NANOG_18555785_Chip-Seq_ESCs_Mouse1.14415788
127STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.14334776
128KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.14042338
129EGR1_19374776_ChIP-ChIP_THP-1_Human1.13393876
130ARNT_22903824_ChIP-Seq_MCF-7_Human1.12893182
131GATA2_21666600_ChIP-Seq_HMVEC_Human1.12676028
132SMAD4_21741376_ChIP-Seq_EPCs_Human1.12200435
133E2F1_21310950_ChIP-Seq_MCF-7_Human1.12050517
134FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.11844158
135HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.11773312
136FOXP3_21729870_ChIP-Seq_TREG_Human1.10538902
137DCP1A_22483619_ChIP-Seq_HELA_Human1.10506582
138NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.10366170
139OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10029282
140VDR_23849224_ChIP-Seq_CD4+_Human1.09884198
141TP63_19390658_ChIP-ChIP_HaCaT_Human1.09348954
142GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.09223019
143EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.08567645
144AHR_22903824_ChIP-Seq_MCF-7_Human1.08117687
145ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.08057957
146SMAD3_21741376_ChIP-Seq_ESCs_Human1.07545042
147* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.07359950
148P53_22387025_ChIP-Seq_ESCs_Mouse1.06508915
149SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.06004420
150TP53_22573176_ChIP-Seq_HFKS_Human1.05745774
151RNF2_27304074_Chip-Seq_ESCs_Mouse1.05272935
152POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.05253882
153CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.04850860
154EZH2_27294783_Chip-Seq_NPCs_Mouse1.04348924
155KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.03694690
156ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.03164486
157CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.02717874
158GATA3_21878914_ChIP-Seq_MCF-7_Human1.02391098
159FLI1_21867929_ChIP-Seq_TH2_Mouse1.01714840
160JARID2_20075857_ChIP-Seq_MESCs_Mouse1.01495275
161SOX2_16153702_ChIP-ChIP_HESCs_Human1.01259028
162FOXA1_27270436_Chip-Seq_PROSTATE_Human1.00589912
163FOXA1_25329375_ChIP-Seq_VCAP_Human1.00589912
164ERG_20887958_ChIP-Seq_HPC-7_Mouse1.00472686
165EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.99855045
166CJUN_26792858_Chip-Seq_BT549_Human0.99824764
167FOXM1_26456572_ChIP-Seq_MCF-7_Human0.99711167
168NFE2_27457419_Chip-Seq_LIVER_Mouse0.99480712
169DROSHA_22980978_ChIP-Seq_HELA_Human0.98943128
170TP53_16413492_ChIP-PET_HCT116_Human0.98494888
171SALL1_21062744_ChIP-ChIP_HESCs_Human0.98281288
172FOXA1_21572438_ChIP-Seq_LNCaP_Human0.98035033
173PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.97462013
174MYC_18940864_ChIP-ChIP_HL60_Human0.95572270
175P300_19829295_ChIP-Seq_ESCs_Human0.94403901
176SOX2_20726797_ChIP-Seq_SW620_Human0.94230516
177NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.93924734
178* NFI_21473784_ChIP-Seq_ESCs_Mouse0.93900812
179JUN_21703547_ChIP-Seq_K562_Human0.92744083
180BRD4_25478319_ChIP-Seq_HGPS_Human0.92244955
181BMI1_23680149_ChIP-Seq_NPCS_Mouse0.91568106
182PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.91400360
183YY1_21170310_ChIP-Seq_MESCs_Mouse0.90150737
184PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.89377886

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color3.24650381
2MP0002009_preneoplasia3.11987014
3MP0000372_irregular_coat_pigmentation3.09966356
4MP0005408_hypopigmentation3.08262347
5MP0001348_abnormal_lacrimal_gland2.99710450
6MP0000749_muscle_degeneration2.77622270
7MP0003787_abnormal_imprinting2.69366971
8MP0003186_abnormal_redox_activity2.58412357
9MP0009697_abnormal_copulation2.49002773
10MP0002938_white_spotting2.43822113
11MP0004782_abnormal_surfactant_physiolog2.41603833
12MP0003942_abnormal_urinary_system2.37106518
13MP0000566_synostosis2.31452057
14MP0001188_hyperpigmentation2.29505519
15MP0005171_absent_coat_pigmentation2.29055504
16MP0002160_abnormal_reproductive_system2.16717144
17MP0008438_abnormal_cutaneous_collagen2.16603588
18MP0003941_abnormal_skin_development2.10569404
19MP0001485_abnormal_pinna_reflex2.09843187
20MP0003283_abnormal_digestive_organ2.05727625
21MP0005503_abnormal_tendon_morphology2.05540852
22MP0005551_abnormal_eye_electrophysiolog2.03912805
23MP0008007_abnormal_cellular_replicative2.03216870
24MP0003890_abnormal_embryonic-extraembry1.97733027
25MP0004043_abnormal_pH_regulation1.95382712
26MP0000631_abnormal_neuroendocrine_gland1.93308993
27MP0002877_abnormal_melanocyte_morpholog1.92030734
28MP0004885_abnormal_endolymph1.91357254
29MP0001879_abnormal_lymphatic_vessel1.90894058
30MP0003943_abnormal_hepatobiliary_system1.90441827
31MP0003279_aneurysm1.90177918
32MP0006072_abnormal_retinal_apoptosis1.86143987
33MP0005084_abnormal_gallbladder_morpholo1.74865334
34MP0010030_abnormal_orbit_morphology1.72592615
35MP0004142_abnormal_muscle_tone1.71934117
36MP0009053_abnormal_anal_canal1.69408523
37MP0009379_abnormal_foot_pigmentation1.67699435
38MP0008789_abnormal_olfactory_epithelium1.67559004
39MP0000516_abnormal_urinary_system1.65245764
40MP0005367_renal/urinary_system_phenotyp1.65245764
41MP0009250_abnormal_appendicular_skeleto1.62831939
42MP0000015_abnormal_ear_pigmentation1.62731539
43MP0002876_abnormal_thyroid_physiology1.61808314
44MP0000427_abnormal_hair_cycle1.61639740
45MP0002751_abnormal_autonomic_nervous1.61617108
46MP0002837_dystrophic_cardiac_calcinosis1.53501529
47MP0003806_abnormal_nucleotide_metabolis1.53385979
48MP0002972_abnormal_cardiac_muscle1.52014293
49MP0002928_abnormal_bile_duct1.50673272
50MP0009046_muscle_twitch1.48727628
51MP0005248_abnormal_Harderian_gland1.47905353
52MP0004742_abnormal_vestibular_system1.47573159
53MP0001293_anophthalmia1.43518394
54MP0003122_maternal_imprinting1.43272388
55MP0003950_abnormal_plasma_membrane1.43232992
56MP0000778_abnormal_nervous_system1.42136367
57MP0006054_spinal_hemorrhage1.40882058
58MP0005253_abnormal_eye_physiology1.39663888
59MP0005389_reproductive_system_phenotype1.39256537
60MP0000049_abnormal_middle_ear1.38198707
61MP0003567_abnormal_fetal_cardiomyocyte1.37984070
62MP0000383_abnormal_hair_follicle1.35959759
63MP0002653_abnormal_ependyma_morphology1.35678851
64MP0001544_abnormal_cardiovascular_syste1.35052699
65MP0005385_cardiovascular_system_phenoty1.35052699
66MP0002638_abnormal_pupillary_reflex1.34664850
67MP0003385_abnormal_body_wall1.31925657
68MP0003123_paternal_imprinting1.29243938
69MP0005646_abnormal_pituitary_gland1.28739639
70MP0001919_abnormal_reproductive_system1.28655852
71MP0010368_abnormal_lymphatic_system1.25413374
72MP0009745_abnormal_behavioral_response1.23842987
73MP0008995_early_reproductive_senescence1.23742720
74MP0003880_abnormal_central_pattern1.23192779
75MP0003938_abnormal_ear_development1.21325471
76MP0005195_abnormal_posterior_eye1.21070543
77MP0002272_abnormal_nervous_system1.20860397
78MP0000026_abnormal_inner_ear1.20331961
79MP0001542_abnormal_bone_strength1.19918394
80MP0000681_abnormal_thyroid_gland1.19772537
81MP0001984_abnormal_olfaction1.19468435
82MP0001968_abnormal_touch/_nociception1.19387729
83MP0001177_atelectasis1.18392323
84MP0010386_abnormal_urinary_bladder1.17813860
85MP0002127_abnormal_cardiovascular_syste1.17607682
86MP0008875_abnormal_xenobiotic_pharmacok1.17025284
87MP0003119_abnormal_digestive_system1.15854247
88MP0003121_genomic_imprinting1.15227985
89MP0001286_abnormal_eye_development1.14740810
90MP0008932_abnormal_embryonic_tissue1.14035321
91MP0003828_pulmonary_edema1.13873237
92MP0004084_abnormal_cardiac_muscle1.13766181
93MP0006276_abnormal_autonomic_nervous1.13412993
94MP0003786_premature_aging1.12200255
95MP0000343_altered_response_to1.12123687
96MP0002177_abnormal_outer_ear1.09969229
97MP0008872_abnormal_physiological_respon1.07456683
98MP0001501_abnormal_sleep_pattern1.06732211
99MP0002557_abnormal_social/conspecific_i1.06072136
100MP0004808_abnormal_hematopoietic_stem1.05836374
101MP0002102_abnormal_ear_morphology1.05725064
102MP0002752_abnormal_somatic_nervous1.05248196
103MP0002184_abnormal_innervation1.03967734
104MP0001119_abnormal_female_reproductive1.02905539
105MP0001986_abnormal_taste_sensitivity1.02717494
106MP0006138_congestive_heart_failure1.02618139
107MP0001486_abnormal_startle_reflex1.00511691
108MP0003115_abnormal_respiratory_system1.00161499
109MP0005620_abnormal_muscle_contractility0.98377122
110MP0001944_abnormal_pancreas_morphology0.97856630
111MP0002572_abnormal_emotion/affect_behav0.97759495
112MP0004134_abnormal_chest_morphology0.97754786
113MP0001529_abnormal_vocalization0.97390077
114MP0005174_abnormal_tail_pigmentation0.96383755
115MP0008877_abnormal_DNA_methylation0.94950467
116MP0001963_abnormal_hearing_physiology0.94127750
117MP0002067_abnormal_sensory_capabilities0.93948203
118MP0005330_cardiomyopathy0.92660914
119MP0000955_abnormal_spinal_cord0.92509828
120MP0005508_abnormal_skeleton_morphology0.91373515
121MP0003315_abnormal_perineum_morphology0.91029460
122MP0000569_abnormal_digit_pigmentation0.91001490
123MP0010630_abnormal_cardiac_muscle0.90645320
124MP0001186_pigmentation_phenotype0.89876280
125MP0003195_calcinosis0.89803106
126MP0002909_abnormal_adrenal_gland0.88884332
127MP0005220_abnormal_exocrine_pancreas0.88517950
128MP0004147_increased_porphyrin_level0.88167526
129MP0002139_abnormal_hepatobiliary_system0.88154188
130MP0003718_maternal_effect0.87903443
131MP0004145_abnormal_muscle_electrophysio0.87752105
132MP0002736_abnormal_nociception_after0.87317464
133MP0002063_abnormal_learning/memory/cond0.86843347
134MP0004019_abnormal_vitamin_homeostasis0.86655235
135MP0005377_hearing/vestibular/ear_phenot0.86149647
136MP0003878_abnormal_ear_physiology0.86149647
137MP0005075_abnormal_melanosome_morpholog0.85901887
138MP0003011_delayed_dark_adaptation0.85049362
139MP0001324_abnormal_eye_pigmentation0.84573871
140MP0004272_abnormal_basement_membrane0.84461504
141MP0005409_darkened_coat_color0.84201228
142MP0000767_abnormal_smooth_muscle0.84145278
143MP0005645_abnormal_hypothalamus_physiol0.84137755
144MP0003937_abnormal_limbs/digits/tail_de0.83847664
145MP0002733_abnormal_thermal_nociception0.83748502
146MP0002064_seizures0.83193692
147MP0002163_abnormal_gland_morphology0.82131816
148MP0001970_abnormal_pain_threshold0.81941458
149MP0005365_abnormal_bile_salt0.81665644
150MP0005379_endocrine/exocrine_gland_phen0.81389507
151MP0005391_vision/eye_phenotype0.81293269
152MP0003861_abnormal_nervous_system0.81234821
153MP0006292_abnormal_olfactory_placode0.80273976
154MP0001915_intracranial_hemorrhage0.79964522
155MP0005499_abnormal_olfactory_system0.79388016
156MP0005394_taste/olfaction_phenotype0.79388016
157MP0005448_abnormal_energy_balance0.77567946
158MP0002882_abnormal_neuron_morphology0.77400292
159MP0000230_abnormal_systemic_arterial0.77294775
160MP0003755_abnormal_palate_morphology0.77209197
161MP0003635_abnormal_synaptic_transmissio0.76998955
162MP0003646_muscle_fatigue0.76875831
163MP0002697_abnormal_eye_size0.76015953
164MP0000647_abnormal_sebaceous_gland0.75914453
165MP0002133_abnormal_respiratory_system0.75836000
166MP0005388_respiratory_system_phenotype0.75836000
167MP0008775_abnormal_heart_ventricle0.75145231
168MP0002109_abnormal_limb_morphology0.75002563
169MP0001175_abnormal_lung_morphology0.73996845
170MP0002128_abnormal_blood_circulation0.73536580
171MP0003221_abnormal_cardiomyocyte_apopto0.72189646
172MP0005395_other_phenotype0.71732089
173MP0000534_abnormal_ureter_morphology0.71289594
174MP0002115_abnormal_skeleton_extremities0.70932832
175MP0006036_abnormal_mitochondrial_physio0.70860485
176MP0004133_heterotaxia0.70689568
177MP0002095_abnormal_skin_pigmentation0.70658346
178MP0002233_abnormal_nose_morphology0.69202252
179MP0004036_abnormal_muscle_relaxation0.69188575

Predicted human phenotypes

RankGene SetZ-score
1Spinal cord lesions (HP:0100561)4.98936176
2Syringomyelia (HP:0003396)4.98936176
3Molar tooth sign on MRI (HP:0002419)4.37580852
4Abnormality of midbrain morphology (HP:0002418)4.37580852
5Pancreatic cysts (HP:0001737)4.25244789
6Pancreatic fibrosis (HP:0100732)4.23538340
7Abnormality of the anterior horn cell (HP:0006802)4.20154333
8Degeneration of anterior horn cells (HP:0002398)4.20154333
9Nephronophthisis (HP:0000090)3.75317668
10Curly hair (HP:0002212)3.60542554
11Abnormality of the renal medulla (HP:0100957)3.42974280
12Neoplasm of the adrenal gland (HP:0100631)3.27671893
13Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)3.26745381
14Pheochromocytoma (HP:0002666)3.20171076
15Asymmetry of the thorax (HP:0001555)3.17604871
16Medial flaring of the eyebrow (HP:0010747)3.13046494
17Osteomalacia (HP:0002749)3.11619688
18Short nail (HP:0001799)3.03733325
19Type I transferrin isoform profile (HP:0003642)3.03272092
20Cystic liver disease (HP:0006706)3.01031127
21Chronic hepatic failure (HP:0100626)3.00046803
22Hyperventilation (HP:0002883)2.95455656
23Congenital stationary night blindness (HP:0007642)2.88116766
24Abnormality of the frontal sinuses (HP:0002687)2.84048832
25Absent frontal sinuses (HP:0002688)2.83503854
26Renal cortical cysts (HP:0000803)2.83412884
27Neuroendocrine neoplasm (HP:0100634)2.82866659
28Aplasia/Hypoplasia of the sacrum (HP:0008517)2.76975759
29Subaortic stenosis (HP:0001682)2.75489589
30Abnormality of the left ventricular outflow tract (HP:0011103)2.75489589
31Hypothermia (HP:0002045)2.75141525
32Tubular atrophy (HP:0000092)2.72045722
33Thyroid carcinoma (HP:0002890)2.71359566
34Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.69092954
35Abnormality of the nasal septum (HP:0000419)2.64608040
36Meningioma (HP:0002858)2.64434572
37Cutaneous melanoma (HP:0012056)2.60672291
38Genetic anticipation (HP:0003743)2.58777162
3911 pairs of ribs (HP:0000878)2.58309981
40Type II lissencephaly (HP:0007260)2.57654438
41Exercise-induced muscle cramps (HP:0003710)2.57124845
42Abnormality of the labia minora (HP:0012880)2.56020532
43Genital tract atresia (HP:0001827)2.55807022
44Dynein arm defect of respiratory motile cilia (HP:0012255)2.53224505
45Absent/shortened dynein arms (HP:0200106)2.53224505
46Gait imbalance (HP:0002141)2.51980639
47Pulmonary artery stenosis (HP:0004415)2.48724349
48Vertebral compression fractures (HP:0002953)2.44744143
49Congenital primary aphakia (HP:0007707)2.44435816
50Vaginal atresia (HP:0000148)2.44009082
51Decreased circulating renin level (HP:0003351)2.43002476
52Hypoplastic left heart (HP:0004383)2.41478589
53Abnormal drinking behavior (HP:0030082)2.40829064
54Polydipsia (HP:0001959)2.40829064
55Adrenal hypoplasia (HP:0000835)2.40044931
56Papillary thyroid carcinoma (HP:0002895)2.37649525
57Septo-optic dysplasia (HP:0100842)2.36883754
58Anencephaly (HP:0002323)2.35119417
59Increased CSF lactate (HP:0002490)2.34587282
60Distal lower limb muscle weakness (HP:0009053)2.33170283
61Progressive cerebellar ataxia (HP:0002073)2.31027232
62Acute necrotizing encephalopathy (HP:0006965)2.30999977
63Nephrogenic diabetes insipidus (HP:0009806)2.30410417
64Abnormal rod and cone electroretinograms (HP:0008323)2.30327939
65Sclerocornea (HP:0000647)2.29640749
66High anterior hairline (HP:0009890)2.29095321
67Abnormality of urine glucose concentration (HP:0011016)2.28202347
68Glycosuria (HP:0003076)2.28202347
69Neoplasm of the peripheral nervous system (HP:0100007)2.27780421
70Renal tubular dysfunction (HP:0000124)2.24779007
71Protruding tongue (HP:0010808)2.24716309
72Cerebellar dysplasia (HP:0007033)2.24652808
73Abolished electroretinogram (ERG) (HP:0000550)2.24313149
74Anophthalmia (HP:0000528)2.20642617
75Preaxial foot polydactyly (HP:0001841)2.19474465
76Abnormal lung lobation (HP:0002101)2.18487072
77Tubulointerstitial nephritis (HP:0001970)2.17935615
78Optic nerve hypoplasia (HP:0000609)2.15908715
79Abnormal respiratory motile cilium morphology (HP:0005938)2.15332366
80Abnormal respiratory epithelium morphology (HP:0012253)2.15332366
81Intestinal atresia (HP:0011100)2.15222896
82Large for gestational age (HP:0001520)2.14754145
83Aplasia/Hypoplasia of the tongue (HP:0010295)2.14379561
84Attenuation of retinal blood vessels (HP:0007843)2.14053267
85Broad-based gait (HP:0002136)2.13068210
86Renal tubular acidosis (HP:0001947)2.12809132
87Abnormal ciliary motility (HP:0012262)2.12562625
88Poor coordination (HP:0002370)2.11846662
89Hepatic necrosis (HP:0002605)2.11792470
90Selective tooth agenesis (HP:0001592)2.11387703
91True hermaphroditism (HP:0010459)2.11065786
92Abnormal biliary tract physiology (HP:0012439)2.10838949
93Bile duct proliferation (HP:0001408)2.10838949
94Cystic hygroma (HP:0000476)2.09909329
95Male pseudohermaphroditism (HP:0000037)2.09429135
96Gaze-evoked nystagmus (HP:0000640)2.09117548
97Neoplasm of the adrenal cortex (HP:0100641)2.08710507
98Dysphonia (HP:0001618)2.08319549
99Absent rod-and cone-mediated responses on ERG (HP:0007688)2.07096586
100Mitochondrial inheritance (HP:0001427)2.07033301
101Rib fusion (HP:0000902)2.06989693
102Rectovaginal fistula (HP:0000143)2.06786901
103Rectal fistula (HP:0100590)2.06786901
104Hypoplastic ischia (HP:0003175)2.05723456
105Postaxial foot polydactyly (HP:0001830)2.05649320
106Degeneration of the lateral corticospinal tracts (HP:0002314)2.05059332
107Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.05059332
108Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.04952816
109Abnormal mitochondria in muscle tissue (HP:0008316)2.04491986
110Congenital hepatic fibrosis (HP:0002612)2.03359520
111Muscle hypertrophy of the lower extremities (HP:0008968)2.03083916
112Calf muscle hypertrophy (HP:0008981)2.01032901
113Abnormal pancreas size (HP:0012094)2.00091524
114Hypoplasia of the pons (HP:0012110)1.99862823
115Progressive macrocephaly (HP:0004481)1.98559475
116Patellar aplasia (HP:0006443)1.97379588
117Hypoplastic heart (HP:0001961)1.97292388
118Bilateral microphthalmos (HP:0007633)1.96622920
119Hepatoblastoma (HP:0002884)1.96363849
120Abnormality of the pons (HP:0007361)1.96341583
121Short tibia (HP:0005736)1.96100096
122Intestinal fistula (HP:0100819)1.95791795
123Alveolar cell carcinoma (HP:0006519)1.95756744
124Gastrointestinal atresia (HP:0002589)1.94860250
125Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.93327162
126Aplasia/Hypoplasia of the tibia (HP:0005772)1.92896742
127Tachypnea (HP:0002789)1.92008428
128Polyuria (HP:0000103)1.91359434
129Increased serum pyruvate (HP:0003542)1.90816533
130Abnormality of glycolysis (HP:0004366)1.90816533
131Proximal tubulopathy (HP:0000114)1.90681392
132Generalized aminoaciduria (HP:0002909)1.90376352
133Exercise intolerance (HP:0003546)1.89525179
134Aplasia/Hypoplasia of the spleen (HP:0010451)1.89159519
135Colon cancer (HP:0003003)1.87078989
136Postaxial hand polydactyly (HP:0001162)1.86553391
137Bony spicule pigmentary retinopathy (HP:0007737)1.84428578
138Aplasia/Hypoplasia of the patella (HP:0006498)1.83909458
139Optic nerve coloboma (HP:0000588)1.83860229
140Keratoconus (HP:0000563)1.82879608
141Increased corneal curvature (HP:0100692)1.82879608
142Lissencephaly (HP:0001339)1.82690464
143Abnormality of incisor morphology (HP:0011063)1.81566062
144Prolonged neonatal jaundice (HP:0006579)1.81235479
145Abnormality of the ischium (HP:0003174)1.81225830
146Absent eyebrow (HP:0002223)1.80534359
147Highly arched eyebrow (HP:0002553)1.80200027
148Abnormality of the renal cortex (HP:0011035)1.79665624
149Multiple lipomas (HP:0001012)1.79491681
150Submucous cleft hard palate (HP:0000176)1.79427046
151Acute encephalopathy (HP:0006846)1.78790702
152Subacute progressive viral hepatitis (HP:0006572)1.78613293
153Embryonal renal neoplasm (HP:0011794)1.78604906
154Redundant skin (HP:0001582)1.78326358
155Hepatocellular necrosis (HP:0001404)1.78134275
156Abnormal respiratory motile cilium physiology (HP:0012261)1.77848583
1573-Methylglutaconic aciduria (HP:0003535)1.76741208
158Congenital sensorineural hearing impairment (HP:0008527)1.76711064
159Furrowed tongue (HP:0000221)1.75754324
160Labial hypoplasia (HP:0000066)1.75734273
161Increased serum lactate (HP:0002151)1.75585703
162Oligodactyly (hands) (HP:0001180)1.74293150
163Hypoplastic labia majora (HP:0000059)1.74086994
164Biconcave vertebral bodies (HP:0004586)1.73901924
165Pendular nystagmus (HP:0012043)1.73839038
166Nephroblastoma (Wilms tumor) (HP:0002667)1.73712449
167Dandy-Walker malformation (HP:0001305)1.73199795
168Bilateral sensorineural hearing impairment (HP:0008619)1.71779093
169Vaginal fistula (HP:0004320)1.71415205
170Decreased central vision (HP:0007663)1.70820441
171Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.70502113
172Congenital, generalized hypertrichosis (HP:0004540)1.70212004
173Occipital encephalocele (HP:0002085)1.70089116
174Hemiparesis (HP:0001269)1.69917389
175Patent foramen ovale (HP:0001655)1.69851199
176Hypoplasia of the fovea (HP:0007750)1.69760131
177Aplasia/Hypoplasia of the fovea (HP:0008060)1.69760131
178Preaxial hand polydactyly (HP:0001177)1.69476703
179Poor head control (HP:0002421)1.68549363
180* Lipoatrophy (HP:0100578)1.68493705
181Esophageal atresia (HP:0002032)1.68319662
182Palpitations (HP:0001962)1.68014727
183Abnormality of renin-angiotensin system (HP:0000847)1.67835648
184Ectopic kidney (HP:0000086)1.67618006
185Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.67457366
186Abnormal protein N-linked glycosylation (HP:0012347)1.67457366
187Abnormal protein glycosylation (HP:0012346)1.67457366
188Abnormal glycosylation (HP:0012345)1.67457366
189Tongue fasciculations (HP:0001308)1.67309825
190Enlarged kidneys (HP:0000105)1.65975204
191Abnormality of the pubic bones (HP:0003172)1.65774530
192Abnormal number of erythroid precursors (HP:0012131)1.65246680
193Asplenia (HP:0001746)1.64325940
194Metaphyseal dysplasia (HP:0100255)1.63639555
195* Atrial fibrillation (HP:0005110)1.61930021

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PRPF4B4.67836824
2ZAK3.57106029
3MKNK13.56863811
4SRPK13.39610444
5WNK32.98855903
6MKNK22.78590345
7ACVR1B2.75251579
8ERBB32.68768455
9STK38L2.59693346
10NUAK12.44856524
11INSRR2.40211130
12CASK2.37713726
13AKT32.32880731
14OBSCN2.26558161
15ADRBK22.26124341
16STK242.18264422
17FGFR22.04811024
18YES12.04679888
19NEK92.04156135
20TRPM71.95091213
21MAP3K141.94057877
22SGK21.93800015
23GRK11.93564189
24LATS11.90814911
25MYLK1.89898298
26TNIK1.88317107
27MUSK1.81920996
28TAF11.60683760
29BMPR21.56645685
30LIMK11.53682075
31EIF2AK11.49550000
32TESK11.45228035
33SIK31.45159611
34PINK11.42765577
35NTRK31.40817908
36EIF2AK21.39442497
37OXSR11.35875653
38SGK31.34142596
39MAP3K41.33981577
40NEK21.32848042
41MAPK151.30745564
42TAOK31.29245081
43BRSK21.26626363
44PLK21.26508908
45SGK2231.25373407
46SGK4941.25373407
47PIM11.23328038
48PNCK1.23160895
49PLK31.17620809
50FRK1.17509255
51MAP4K21.17067208
52STK31.12787134
53CDK81.09432396
54NEK61.09180582
55SIK21.08027943
56NLK1.05508464
57DAPK21.04785711
58PIK3CA1.01993651
59BCR0.99077143
60NME20.96901703
61NME10.94101189
62PAK30.93297437
63RPS6KC10.92285802
64RPS6KL10.92285802
65MAP3K120.91047510
66WNK10.90893384
67STK40.88240540
68PIM20.86934026
69TYRO30.86757513
70RPS6KA60.86162638
71EIF2AK30.83872001
72ADRBK10.81863250
73PRKCG0.80894071
74NTRK20.79806564
75CAMK1G0.77305941
76RPS6KB10.75742782
77EPHB20.74687633
78IRAK40.72794607
79PLK40.71976636
80STK110.70839992
81WNK40.70557853
82DMPK0.70435469
83CDC70.67864928
84FLT30.67808718
85BMPR1B0.67734858
86IRAK30.67457068
87PTK2B0.67353138
88TGFBR10.66870587
89CHUK0.65816511
90STK160.65040309
91CHEK20.62586721
92CAMK1D0.61641805
93EPHA40.61229776
94UHMK10.60548087
95TIE10.59479193
96SCYL20.57759856
97MARK10.57611183
98TNK20.56611313
99MAP2K70.55438171
100MAP2K30.54388812
101PRKG20.54102713
102VRK10.53965384
103MAP3K70.53367266
104PDK20.53270771
105MAPK130.52346590
106IRAK10.48258632
107CSNK1A10.48019554
108PRKAA20.47878619
109CLK10.46921914
110CSNK2A10.44270348
111DYRK30.43985803
112AURKA0.43777611
113IKBKB0.43634349
114RPS6KA20.42474724
115BCKDK0.42096246
116CDK70.42042304
117CAMK10.41530678
118CSNK1E0.41016793
119PDK40.40680391
120PDK30.40680391
121STK390.40611438
122TEC0.39791507
123ERBB20.39422328
124PRKACA0.38967357
125CDK30.38733538
126PRKCZ0.38590511
127PKN20.38281728
128MAP2K60.38225607
129PKN10.38077299
130PRKG10.37728666
131PRKCQ0.37527908
132MARK30.37355511
133MST40.37253822
134MAPKAPK50.37035891
135JAK30.36431164
136PRKAA10.35756290
137ROCK10.35458827
138SGK10.34816532
139PHKG20.34266925
140PHKG10.34266925
141PIK3CG0.33956551
142FGFR10.33461135
143BRAF0.32956161
144MAPKAPK20.32090818
145PRKCH0.32006622
146PBK0.31882180
147HIPK20.31544287
148TLK10.31453119
149WEE10.31276056
150PRKCE0.30814897
151NEK10.30371160
152BRSK10.30175149
153ATM0.30144659
154PLK10.27944695
155PASK0.27660652
156AURKB0.25585274
157DYRK20.25186929
158EPHA30.24693343
159MAPK30.24053834

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.52553088
2Proteasome_Homo sapiens_hsa030502.91812688
3Maturity onset diabetes of the young_Homo sapiens_hsa049502.72411056
4Protein export_Homo sapiens_hsa030602.71568897
5Butanoate metabolism_Homo sapiens_hsa006502.68865733
6DNA replication_Homo sapiens_hsa030302.57912354
7Parkinsons disease_Homo sapiens_hsa050122.56576908
8Oxidative phosphorylation_Homo sapiens_hsa001902.35621879
9Mismatch repair_Homo sapiens_hsa034302.31130014
10Nitrogen metabolism_Homo sapiens_hsa009102.26427403
11Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.25816398
12Fatty acid elongation_Homo sapiens_hsa000622.18827747
13Base excision repair_Homo sapiens_hsa034102.18091081
14Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.13508547
15Tryptophan metabolism_Homo sapiens_hsa003802.11493511
16One carbon pool by folate_Homo sapiens_hsa006702.09543048
17Linoleic acid metabolism_Homo sapiens_hsa005912.09112483
18Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.05917782
19Nucleotide excision repair_Homo sapiens_hsa034202.00364397
20Huntingtons disease_Homo sapiens_hsa050161.98540231
21Thyroid cancer_Homo sapiens_hsa052161.89756032
22alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.89514379
23Phototransduction_Homo sapiens_hsa047441.84018477
24Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.75672649
25Nicotine addiction_Homo sapiens_hsa050331.74035762
26Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.72419374
27Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.71453719
28Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.70368622
29ABC transporters_Homo sapiens_hsa020101.66813374
30Basal transcription factors_Homo sapiens_hsa030221.63801690
31Ether lipid metabolism_Homo sapiens_hsa005651.63190442
32Homologous recombination_Homo sapiens_hsa034401.61625495
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.59236676
34Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.58014971
35Peroxisome_Homo sapiens_hsa041461.50570383
36Taste transduction_Homo sapiens_hsa047421.49266694
37Histidine metabolism_Homo sapiens_hsa003401.49174351
38Alzheimers disease_Homo sapiens_hsa050101.47772382
39Arachidonic acid metabolism_Homo sapiens_hsa005901.44748218
40Insulin secretion_Homo sapiens_hsa049111.44683254
41Primary bile acid biosynthesis_Homo sapiens_hsa001201.41429593
42Sulfur metabolism_Homo sapiens_hsa009201.39077812
43RNA degradation_Homo sapiens_hsa030181.34046428
44Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.32483788
45Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.31877589
46Propanoate metabolism_Homo sapiens_hsa006401.30300029
47Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.27321454
48Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.25600112
49beta-Alanine metabolism_Homo sapiens_hsa004101.24041324
50Hedgehog signaling pathway_Homo sapiens_hsa043401.20191846
51Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.20105525
52Cell cycle_Homo sapiens_hsa041101.19601948
53Caffeine metabolism_Homo sapiens_hsa002321.18994917
54Glutathione metabolism_Homo sapiens_hsa004801.18797765
55Morphine addiction_Homo sapiens_hsa050321.18611540
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.16762664
57Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.15214352
58Ribosome_Homo sapiens_hsa030101.14258956
59Olfactory transduction_Homo sapiens_hsa047401.13867365
60SNARE interactions in vesicular transport_Homo sapiens_hsa041301.13382980
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.12813851
62Glutamatergic synapse_Homo sapiens_hsa047241.10605946
63Glycerolipid metabolism_Homo sapiens_hsa005611.09320108
64Cardiac muscle contraction_Homo sapiens_hsa042601.06607457
65Serotonergic synapse_Homo sapiens_hsa047261.05174056
66Pentose and glucuronate interconversions_Homo sapiens_hsa000401.03921335
67Circadian entrainment_Homo sapiens_hsa047131.03355343
68Pyrimidine metabolism_Homo sapiens_hsa002401.01335606
69Endometrial cancer_Homo sapiens_hsa052130.99422300
70Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.98911373
71Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.97788304
72Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.96357147
73Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.95400664
74Melanoma_Homo sapiens_hsa052180.95210967
75Vitamin digestion and absorption_Homo sapiens_hsa049770.95006847
76Carbon metabolism_Homo sapiens_hsa012000.93635727
77Lysine degradation_Homo sapiens_hsa003100.92525027
78Ovarian steroidogenesis_Homo sapiens_hsa049130.92013727
79Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.90586287
80Selenocompound metabolism_Homo sapiens_hsa004500.90581337
81Prostate cancer_Homo sapiens_hsa052150.85538624
82Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.85400841
83Galactose metabolism_Homo sapiens_hsa000520.85383978
84Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.83522857
85GABAergic synapse_Homo sapiens_hsa047270.83171763
86Purine metabolism_Homo sapiens_hsa002300.82194710
87Allograft rejection_Homo sapiens_hsa053300.80255493
88RNA polymerase_Homo sapiens_hsa030200.80003767
89Vascular smooth muscle contraction_Homo sapiens_hsa042700.76757830
90Non-homologous end-joining_Homo sapiens_hsa034500.76686807
91Autoimmune thyroid disease_Homo sapiens_hsa053200.76385114
92Pyruvate metabolism_Homo sapiens_hsa006200.76152864
93N-Glycan biosynthesis_Homo sapiens_hsa005100.75828441
94Mineral absorption_Homo sapiens_hsa049780.75272675
95Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.74599713
96RNA transport_Homo sapiens_hsa030130.73770000
97Dorso-ventral axis formation_Homo sapiens_hsa043200.72927248
98PI3K-Akt signaling pathway_Homo sapiens_hsa041510.72724167
99Measles_Homo sapiens_hsa051620.71683664
100Cocaine addiction_Homo sapiens_hsa050300.69043030
101Calcium signaling pathway_Homo sapiens_hsa040200.68925346
102Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.68238589
103Fanconi anemia pathway_Homo sapiens_hsa034600.67681646
104Fatty acid degradation_Homo sapiens_hsa000710.67471826
105Salivary secretion_Homo sapiens_hsa049700.66195129
106Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.66108373
107Hippo signaling pathway_Homo sapiens_hsa043900.66017700
108Thyroid hormone synthesis_Homo sapiens_hsa049180.65425175
109Dopaminergic synapse_Homo sapiens_hsa047280.64953561
1102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.63912472
111Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.63540202
112Fat digestion and absorption_Homo sapiens_hsa049750.63153269
113Circadian rhythm_Homo sapiens_hsa047100.62984187
114Spliceosome_Homo sapiens_hsa030400.62729237
115Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.62336908
116Bile secretion_Homo sapiens_hsa049760.62180590
117Starch and sucrose metabolism_Homo sapiens_hsa005000.61692614
118Herpes simplex infection_Homo sapiens_hsa051680.61081829
119Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.59967475
120Metabolic pathways_Homo sapiens_hsa011000.58636043
121Dilated cardiomyopathy_Homo sapiens_hsa054140.58413284
122p53 signaling pathway_Homo sapiens_hsa041150.57351786
123Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.57001887
124MicroRNAs in cancer_Homo sapiens_hsa052060.55736198
125Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.55351488
126Basal cell carcinoma_Homo sapiens_hsa052170.55265789
127Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.53639833
128Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53076330
129Cholinergic synapse_Homo sapiens_hsa047250.52855591
130Type II diabetes mellitus_Homo sapiens_hsa049300.51383011
131Glycerophospholipid metabolism_Homo sapiens_hsa005640.50204223
132Axon guidance_Homo sapiens_hsa043600.49501757
133Legionellosis_Homo sapiens_hsa051340.48707188
134Retinol metabolism_Homo sapiens_hsa008300.48116473
135cAMP signaling pathway_Homo sapiens_hsa040240.46406779
136Tight junction_Homo sapiens_hsa045300.46168666
137Long-term depression_Homo sapiens_hsa047300.45248483
138TGF-beta signaling pathway_Homo sapiens_hsa043500.45124832
139Phagosome_Homo sapiens_hsa041450.45055173
140Adherens junction_Homo sapiens_hsa045200.44435734
141Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.42970651
142Fatty acid metabolism_Homo sapiens_hsa012120.41988551
143Epstein-Barr virus infection_Homo sapiens_hsa051690.41442357
144mRNA surveillance pathway_Homo sapiens_hsa030150.40224635
145Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.40124320
146Pancreatic secretion_Homo sapiens_hsa049720.40054463
147Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.38986156
148Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.38615874
149Aldosterone synthesis and secretion_Homo sapiens_hsa049250.38461708
150Cysteine and methionine metabolism_Homo sapiens_hsa002700.37735869
151Chemical carcinogenesis_Homo sapiens_hsa052040.37368711
152Viral carcinogenesis_Homo sapiens_hsa052030.36871999
153Gastric acid secretion_Homo sapiens_hsa049710.36568839
154Wnt signaling pathway_Homo sapiens_hsa043100.36199101
155Systemic lupus erythematosus_Homo sapiens_hsa053220.34569370
156Vibrio cholerae infection_Homo sapiens_hsa051100.34213236
157Steroid biosynthesis_Homo sapiens_hsa001000.34197178
158Steroid hormone biosynthesis_Homo sapiens_hsa001400.33895881
159Shigellosis_Homo sapiens_hsa051310.33450053
160Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.33328013

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