HLCS

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





Description: This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1aminoglycoside antibiotic metabolic process (GO:0030647)7.34232537
2coenzyme catabolic process (GO:0009109)6.81493079
3somite rostral/caudal axis specification (GO:0032525)6.24607806
4maintenance of protein location in nucleus (GO:0051457)5.93231858
5response to dietary excess (GO:0002021)5.60893479
6cellular modified amino acid catabolic process (GO:0042219)5.53452683
7hormone catabolic process (GO:0042447)5.42366098
8regulation of mammary gland epithelial cell proliferation (GO:0033599)5.33081364
9sulfur amino acid catabolic process (GO:0000098)5.21345898
10regulation of MHC class I biosynthetic process (GO:0045343)5.13879175
11negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)5.06377471
12negative regulation of epidermis development (GO:0045683)5.02197113
13muscle organ morphogenesis (GO:0048644)4.96186562
14interferon-gamma production (GO:0032609)4.88273578
15cytidine catabolic process (GO:0006216)4.67649513
16cytidine deamination (GO:0009972)4.67649513
17cytidine metabolic process (GO:0046087)4.67649513
18regulation of response to osmotic stress (GO:0047484)4.60280580
19negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)4.50958247
20primitive streak formation (GO:0090009)4.45704550
21rRNA transcription (GO:0009303)4.45093516
22histone H4-K5 acetylation (GO:0043981)4.36669178
23histone H4-K8 acetylation (GO:0043982)4.36669178
24regulation of nuclear cell cycle DNA replication (GO:0033262)4.35527503
25phenol-containing compound catabolic process (GO:0019336)4.33823439
26epoxygenase P450 pathway (GO:0019373)4.27761242
27cofactor catabolic process (GO:0051187)4.26821918
28quinone metabolic process (GO:1901661)4.25650234
29L-phenylalanine metabolic process (GO:0006558)4.12634584
30erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.12634584
31negative regulation of cell cycle G2/M phase transition (GO:1902750)4.12477021
32L-phenylalanine catabolic process (GO:0006559)4.11725756
33erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.11725756
34negative regulation of telomerase activity (GO:0051974)4.10604191
35histone H4-K12 acetylation (GO:0043983)4.08654793
36nucleoside transmembrane transport (GO:1901642)4.03038270
37regulation of telomere maintenance via telomerase (GO:0032210)3.87862692
38primary alcohol catabolic process (GO:0034310)3.83221547
39positive regulation of histone deacetylation (GO:0031065)3.82318434
40negative regulation of epidermal cell differentiation (GO:0045605)3.81398062
41positive regulation of protein deacetylation (GO:0090312)3.78328750
42aromatic amino acid family catabolic process (GO:0009074)3.68836855
43rRNA methylation (GO:0031167)3.63318223
44protein localization to kinetochore (GO:0034501)3.63011081
45drug metabolic process (GO:0017144)3.59813792
46heme transport (GO:0015886)3.51537926
47cofactor transport (GO:0051181)3.50516551
48regulation of cilium movement (GO:0003352)3.48108203
49notochord development (GO:0030903)3.43530662
50positive regulation of DNA-dependent DNA replication (GO:2000105)3.41524118
51branching involved in mammary gland duct morphogenesis (GO:0060444)3.40792516
52valine metabolic process (GO:0006573)3.40205484
53maintenance of protein localization in organelle (GO:0072595)3.38414721
54L-ascorbic acid metabolic process (GO:0019852)3.35669075
55pyrimidine ribonucleoside catabolic process (GO:0046133)3.34638549
56triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.33247078
57tryptophan catabolic process (GO:0006569)3.32037401
58indole-containing compound catabolic process (GO:0042436)3.32037401
59indolalkylamine catabolic process (GO:0046218)3.32037401
60tachykinin receptor signaling pathway (GO:0007217)3.27426344
61intestinal epithelial cell development (GO:0060576)3.22880208
62xenobiotic catabolic process (GO:0042178)3.20760258
63kynurenine metabolic process (GO:0070189)3.20376834
64regulation of translation in response to stress (GO:0043555)3.17987290
65regulation of apoptotic process involved in morphogenesis (GO:1902337)3.17939059
66transepithelial transport (GO:0070633)3.15131519
67histone H4-K16 acetylation (GO:0043984)3.13939589
68regulation of odontogenesis of dentin-containing tooth (GO:0042487)3.13415055
69tryptophan metabolic process (GO:0006568)3.12920872
70regulation of glucose import in response to insulin stimulus (GO:2001273)3.10744340
71alpha-linolenic acid metabolic process (GO:0036109)3.10049584
72retinoic acid receptor signaling pathway (GO:0048384)3.09121812
73GDP-mannose metabolic process (GO:0019673)3.09000649
74mitochondrion distribution (GO:0048311)3.06761152
75heterochromatin organization (GO:0070828)3.04357921
76rRNA modification (GO:0000154)3.03000217
77omega-hydroxylase P450 pathway (GO:0097267)3.02945925
78pteridine-containing compound biosynthetic process (GO:0042559)2.97049544
79auditory receptor cell differentiation (GO:0042491)2.96812432
80nucleoside transport (GO:0015858)2.94863612
81metanephric mesenchyme development (GO:0072075)2.93808548
82thyroid hormone generation (GO:0006590)2.93346715
83regulation of mesenchymal cell apoptotic process (GO:2001053)2.93165346
84branched-chain amino acid catabolic process (GO:0009083)2.90594119
85water-soluble vitamin biosynthetic process (GO:0042364)2.90376772
86positive regulation of gluconeogenesis (GO:0045722)2.90110445
87phagocytosis, recognition (GO:0006910)2.87679217
88high-density lipoprotein particle remodeling (GO:0034375)2.86438103
89negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.84860425
90signal transduction involved in regulation of gene expression (GO:0023019)2.84530793
91cellular amino acid catabolic process (GO:0009063)2.84528143
92intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)2.83969290
93negative regulation of telomere maintenance (GO:0032205)2.83645177
94negative regulation of interleukin-2 production (GO:0032703)2.82335800
95negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.80704166
96regulation of apoptotic cell clearance (GO:2000425)2.80186012
97cellular ketone metabolic process (GO:0042180)2.79278952
98intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)2.78593681
99serine family amino acid catabolic process (GO:0009071)2.78543433
100kidney mesenchyme development (GO:0072074)2.75264258
101C21-steroid hormone biosynthetic process (GO:0006700)2.75139294
102protein polyglutamylation (GO:0018095)2.73856972
103positive regulation of defense response to virus by host (GO:0002230)2.68340389
104regulation of DNA endoreduplication (GO:0032875)2.68034725
105behavioral response to nicotine (GO:0035095)2.66933996
106cardiac right ventricle morphogenesis (GO:0003215)2.66464414
107oxidative demethylation (GO:0070989)2.64878276
108regulation of hippo signaling (GO:0035330)2.64767726
109nonmotile primary cilium assembly (GO:0035058)2.63204358
110positive regulation of male gonad development (GO:2000020)2.58923328
111embryonic foregut morphogenesis (GO:0048617)2.53014346
112regulation of male gonad development (GO:2000018)2.50989623
113endocardial cushion development (GO:0003197)2.46980081
114response to nitrosative stress (GO:0051409)2.46429478
115appendage development (GO:0048736)2.41305731
116limb development (GO:0060173)2.41305731
117glomerular basement membrane development (GO:0032836)2.40358380
118piRNA metabolic process (GO:0034587)2.40155337
119fibroblast migration (GO:0010761)2.38786406
120artery development (GO:0060840)2.38760127
121muscle cell fate commitment (GO:0042693)2.36406527
122negative regulation of axon extension involved in axon guidance (GO:0048843)2.33329825
123response to pheromone (GO:0019236)2.28998224
124cornea development in camera-type eye (GO:0061303)2.28923766
125meiotic chromosome segregation (GO:0045132)2.28918422
126intraciliary transport (GO:0042073)2.27464402
127negative regulation of axon guidance (GO:1902668)2.23182786
128parturition (GO:0007567)2.21105131
129hair cell differentiation (GO:0035315)2.19360516
130detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.18608262
131lymphangiogenesis (GO:0001946)2.16990131
132diaphragm development (GO:0060539)2.16794134
133cilium organization (GO:0044782)2.16561368
134sex determination (GO:0007530)2.16245813
135cilium assembly (GO:0042384)2.15786728
136inositol metabolic process (GO:0006020)2.12768157
137* biotin metabolic process (GO:0006768)2.12488588
138positive regulation of glycolytic process (GO:0045821)2.12024846
139cilium morphogenesis (GO:0060271)2.08839172
140dorsal/ventral axis specification (GO:0009950)2.07488067
141sex differentiation (GO:0007548)2.07467993
142coenzyme A metabolic process (GO:0015936)2.06383254
143establishment of planar polarity (GO:0001736)2.06369524
144establishment of tissue polarity (GO:0007164)2.06369524
145peptidyl-histidine modification (GO:0018202)2.06188689
146regulation of translational fidelity (GO:0006450)2.04370350
147skeletal muscle organ development (GO:0060538)2.03837103
148terpenoid biosynthetic process (GO:0016114)2.03516115
149interkinetic nuclear migration (GO:0022027)2.03429335
150amino-acid betaine metabolic process (GO:0006577)2.00054106
151doxorubicin metabolic process (GO:0044598)11.7227403
152daunorubicin metabolic process (GO:0044597)11.7227403
153polyketide metabolic process (GO:0030638)11.7227403
154replication fork processing (GO:0031297)1.99630229
155establishment of protein localization to Golgi (GO:0072600)1.98332883
156mesonephros development (GO:0001823)1.98165438
157DNA methylation involved in gamete generation (GO:0043046)1.98068029
158epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)1.97382532
159L-serine metabolic process (GO:0006563)1.96484581
160regulation of cardioblast differentiation (GO:0051890)1.95065275
161ventricular septum development (GO:0003281)1.94452425
162response to follicle-stimulating hormone (GO:0032354)1.93978496
163positive regulation of meiosis (GO:0045836)1.93186051
164left/right axis specification (GO:0070986)1.92950084
165regulation of organ formation (GO:0003156)1.92250718
166positive regulation of mesonephros development (GO:0061213)1.91754185
167myoblast fusion (GO:0007520)1.90622265
168male genitalia development (GO:0030539)1.90556943
169regulation of axon extension involved in axon guidance (GO:0048841)1.89368806
170mesenchymal-epithelial cell signaling (GO:0060638)1.89301617
171preassembly of GPI anchor in ER membrane (GO:0016254)1.88519640
172cellular ketone body metabolic process (GO:0046950)1.88408482
173protein K11-linked deubiquitination (GO:0035871)1.88227188
174regulation of axon guidance (GO:1902667)1.87974959
175retinal ganglion cell axon guidance (GO:0031290)1.87722576
176resolution of meiotic recombination intermediates (GO:0000712)1.87159967
177atrial septum morphogenesis (GO:0060413)1.86560652
178head development (GO:0060322)1.86104239
179response to redox state (GO:0051775)1.85070363
180glycine metabolic process (GO:0006544)1.84436825
181branching involved in prostate gland morphogenesis (GO:0060442)1.84116699
182reciprocal meiotic recombination (GO:0007131)1.84010944
183reciprocal DNA recombination (GO:0035825)1.84010944
184regulation of centrosome duplication (GO:0010824)1.82749714
185positive regulation of meiotic cell cycle (GO:0051446)1.82735144
186negative regulation of metanephros development (GO:0072217)1.82473002
187regulation of centriole replication (GO:0046599)1.81511165
188reflex (GO:0060004)1.80638145
189paraxial mesoderm development (GO:0048339)1.80277775
190protein localization to Golgi apparatus (GO:0034067)1.80098014
191determination of bilateral symmetry (GO:0009855)1.79943295
192cardiac septum development (GO:0003279)1.79652562
193G-protein coupled glutamate receptor signaling pathway (GO:0007216)1.79591769
194seminiferous tubule development (GO:0072520)1.79586952
195regulation of non-canonical Wnt signaling pathway (GO:2000050)1.79585463
196cellular response to gonadotropin stimulus (GO:0071371)1.79382069
197determination of left/right symmetry (GO:0007368)1.79270907
198iron ion import (GO:0097286)1.79162132

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.27223557
2KLF5_18264089_ChIP-ChIP_MESCs_Mouse6.57450171
3KLF4_18264089_ChIP-ChIP_MESCs_Mouse6.57450171
4KLF2_18264089_ChIP-ChIP_MESCs_Mouse6.57450171
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.09547685
6ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.38480738
7TP63_19390658_ChIP-ChIP_HaCaT_Human3.27798712
8NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.13930175
9FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.09468806
10RXR_22158963_ChIP-Seq_LIVER_Mouse3.05920910
11RBPJ_22232070_ChIP-Seq_NCS_Mouse3.02212197
12IGF1R_20145208_ChIP-Seq_DFB_Human2.86187662
13SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.82486345
14GBX2_23144817_ChIP-Seq_PC3_Human2.75988673
15POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.73492583
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.69805014
17PPARA_22158963_ChIP-Seq_LIVER_Mouse2.68852707
18SALL1_21062744_ChIP-ChIP_HESCs_Human2.67739300
19TCF3_18692474_ChIP-Seq_MESCs_Mouse2.41713981
20FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.38436635
21SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.35677142
22FUS_26573619_Chip-Seq_HEK293_Human2.23741963
23LXR_22158963_ChIP-Seq_LIVER_Mouse2.21920749
24NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.21108918
25SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.16868618
26TCF3_18692474_ChIP-Seq_MEFs_Mouse2.12752617
27ZNF274_21170338_ChIP-Seq_K562_Hela2.11827674
28CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.09550872
29PIAS1_25552417_ChIP-Seq_VCAP_Human2.07638307
30NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.04028293
31IRF1_19129219_ChIP-ChIP_H3396_Human2.00763606
32NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.92126804
33EGR1_23403033_ChIP-Seq_LIVER_Mouse1.91893045
34ZFP57_27257070_Chip-Seq_ESCs_Mouse1.81038444
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.79842075
36VDR_22108803_ChIP-Seq_LS180_Human1.79535631
37NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.78486570
38EWS_26573619_Chip-Seq_HEK293_Human1.78346920
39PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.78220448
40CDX2_20551321_ChIP-Seq_CACO-2_Human1.77339950
41POU5F1_16518401_ChIP-PET_MESCs_Mouse1.74704608
42POU3F2_20337985_ChIP-ChIP_501MEL_Human1.73684384
43AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.71961330
44CBX2_27304074_Chip-Seq_ESCs_Mouse1.71168582
45AR_21572438_ChIP-Seq_LNCaP_Human1.69820490
46STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.67755335
47NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.66162112
48HIF1A_21447827_ChIP-Seq_MCF-7_Human1.62860910
49CTBP2_25329375_ChIP-Seq_LNCAP_Human1.61228525
50STAT3_1855785_ChIP-Seq_MESCs_Mouse1.60337072
51E2F7_22180533_ChIP-Seq_HELA_Human1.58034541
52GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.56342701
53GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.55644307
54PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.54477266
55NOTCH1_21737748_ChIP-Seq_TLL_Human1.53476928
56EZH2_22144423_ChIP-Seq_EOC_Human1.53417811
57SCL_19346495_ChIP-Seq_HPC-7_Human1.52819199
58TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.52687938
59STAT3_23295773_ChIP-Seq_U87_Human1.52608567
60TAF15_26573619_Chip-Seq_HEK293_Human1.50931749
61RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.49522882
62NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.45123643
63TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.44988149
64* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.44896613
65CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.44374898
66ZNF217_24962896_ChIP-Seq_MCF-7_Human1.43762847
67SMAD4_21799915_ChIP-Seq_A2780_Human1.43348147
68HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.41173468
69CTBP1_25329375_ChIP-Seq_LNCAP_Human1.40072229
70TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.37944107
71P300_19829295_ChIP-Seq_ESCs_Human1.37101594
72* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.36881536
73ER_23166858_ChIP-Seq_MCF-7_Human1.36172817
74PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.35860731
75* RNF2_27304074_Chip-Seq_NSC_Mouse1.34836821
76ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.34536912
77MYC_22102868_ChIP-Seq_BL_Human1.34440539
78ELK1_19687146_ChIP-ChIP_HELA_Human1.34427612
79CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33540542
80KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.33317983
81NANOG_18692474_ChIP-Seq_MESCs_Mouse1.30298808
82TP53_16413492_ChIP-PET_HCT116_Human1.29721411
83* MYC_18940864_ChIP-ChIP_HL60_Human1.29468012
84ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.29268784
85PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.29051495
86TCF4_23295773_ChIP-Seq_U87_Human1.28045576
87PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.26982326
88POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.25964740
89FOXM1_26456572_ChIP-Seq_MCF-7_Human1.25276948
90BMI1_23680149_ChIP-Seq_NPCS_Mouse1.23497899
91NANOG_18692474_ChIP-Seq_MEFs_Mouse1.23495735
92IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.23020219
93CBP_20019798_ChIP-Seq_JUKART_Human1.23020219
94* AHR_22903824_ChIP-Seq_MCF-7_Human1.21578567
95* AR_25329375_ChIP-Seq_VCAP_Human1.21385730
96EED_16625203_ChIP-ChIP_MESCs_Mouse1.20225964
97RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20086439
98NANOG_16518401_ChIP-PET_MESCs_Mouse1.19901127
99POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.19183695
100* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19034623
101SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17235968
102MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.16816843
103* ARNT_22903824_ChIP-Seq_MCF-7_Human1.16449772
104E2F1_17053090_ChIP-ChIP_MCF-7_Human1.16073341
105SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.13347904
106* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.13274065
107AR_21909140_ChIP-Seq_LNCAP_Human1.11691327
108PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.10765548
109SOX9_26525672_Chip-Seq_HEART_Mouse1.10476115
110SOX2_18555785_ChIP-Seq_MESCs_Mouse1.08525233
111OCT4_18692474_ChIP-Seq_MEFs_Mouse1.08346676
112TCF7_22412390_ChIP-Seq_EML_Mouse1.08199964
113ZFP281_27345836_Chip-Seq_ESCs_Mouse1.07998665
114FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.07346296
115RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.06556336
116SMAD3_21741376_ChIP-Seq_EPCs_Human1.05896218
117ZFP281_18757296_ChIP-ChIP_E14_Mouse1.05255151
118NCOR1_26117541_ChIP-Seq_K562_Human1.04167886
119* E2F1_21310950_ChIP-Seq_MCF-7_Human1.03887606
120SOX2_18692474_ChIP-Seq_MESCs_Mouse1.03871505
121GABP_17652178_ChIP-ChIP_JURKAT_Human1.03743481
122SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03661362
123CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02080091
124ESR1_20079471_ChIP-ChIP_T-47D_Human1.01357851
125KLF5_20875108_ChIP-Seq_MESCs_Mouse0.99811577
126TP53_18474530_ChIP-ChIP_U2OS_Human0.98690258
127THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.98507856
128* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98478679
129CDX2_19796622_ChIP-Seq_MESCs_Mouse0.97905379
130OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97747546
131FOXO3_23340844_ChIP-Seq_DLD1_Human0.97451483
132TBX3_20139965_ChIP-Seq_ESCs_Mouse0.97264421
133TBX3_20139965_ChIP-Seq_MESCs_Mouse0.97019081
134PADI4_21655091_ChIP-ChIP_MCF-7_Human0.96413655
135RUNX2_22187159_ChIP-Seq_PCA_Human0.96298482
136NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.95483551
137NRF2_20460467_ChIP-Seq_MEFs_Mouse0.95483551
138UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95216210
139YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.95129407
140KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.95076454
141BRD4_25478319_ChIP-Seq_HGPS_Human0.94984562
142EP300_21415370_ChIP-Seq_HL-1_Mouse0.94088417
143CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.92947016
144ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.92721219
145EZH2_27304074_Chip-Seq_ESCs_Mouse0.91053220
146TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.90803377
147JUN_21703547_ChIP-Seq_K562_Human0.90599676
148TCF4_22108803_ChIP-Seq_LS180_Human0.90066261
149CDX2_22108803_ChIP-Seq_LS180_Human0.89925406
150ESR2_21235772_ChIP-Seq_MCF-7_Human0.88250605
151CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.88193825
152* SOX2_21211035_ChIP-Seq_LN229_Gbm0.88039017
153* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.86712871
154TBL1_22424771_ChIP-Seq_293T_Human0.86630673
155* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.86578969
156CTNNB1_20460455_ChIP-Seq_HCT116_Human0.86525472
157TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.86421652
158SOX2_18692474_ChIP-Seq_MEFs_Mouse0.84948115
159E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.84863593
160* RXRA_24833708_ChIP-Seq_LIVER_Mouse0.82652447
161NANOG_18555785_ChIP-Seq_MESCs_Mouse0.82628517
162ESET_19884257_ChIP-Seq_ESCs_Mouse0.82516836
163SMC4_20622854_ChIP-Seq_HELA_Human0.81268239
164POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.80992807
165BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.79791661
166RACK7_27058665_Chip-Seq_MCF-7_Human0.79558720
167LXR_22292898_ChIP-Seq_THP-1_Human0.78306797
168CTCF_21964334_Chip-Seq_Bcells_Human0.76567999
169NANOG_21062744_ChIP-ChIP_HESCs_Human0.75864794
170TP53_22127205_ChIP-Seq_IMR90_Human0.75808386
171ELF1_20517297_ChIP-Seq_JURKAT_Human0.72569122
172* SPI1_26923725_Chip-Seq_HPCs_Mouse0.72307248
173CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.71659009
174E2F4_17652178_ChIP-ChIP_JURKAT_Human0.70673157
175TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.70649700
176ELK3_25401928_ChIP-Seq_HUVEC_Human0.69654686
177EOMES_21245162_ChIP-Seq_HESCs_Human0.68750471
178NANOG_16153702_ChIP-ChIP_HESCs_Human0.67687130
179RARB_24833708_ChIP-Seq_LIVER_Mouse0.67020122
180NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.66223627
181SPI1_23127762_ChIP-Seq_K562_Human0.65270983
182POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.64430809
183STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.64187552
184SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.64054078
185KAP1_27257070_Chip-Seq_ESCs_Mouse0.63207759
186CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.63134586
187SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.63036992
188STAT3_18555785_ChIP-Seq_MESCs_Mouse0.62317191
189BCOR_27268052_Chip-Seq_Bcells_Human0.61300316
190KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.61199863
191YY1_21170310_ChIP-Seq_MESCs_Mouse0.61065783
192NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.60643103

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation4.84238082
2MP0004264_abnormal_extraembryonic_tissu4.42403539
3MP0002254_reproductive_system_inflammat4.15798421
4MP0005075_abnormal_melanosome_morpholog4.08417846
5MP0006292_abnormal_olfactory_placode4.04991180
6MP0003890_abnormal_embryonic-extraembry3.88221305
7MP0002139_abnormal_hepatobiliary_system3.76136074
8MP0005365_abnormal_bile_salt3.22523860
9MP0005360_urolithiasis2.86933449
10MP0005085_abnormal_gallbladder_physiolo2.82311140
11MP0009384_cardiac_valve_regurgitation2.73112799
12MP0008875_abnormal_xenobiotic_pharmacok2.71832881
13MP0005394_taste/olfaction_phenotype2.62329427
14MP0005499_abnormal_olfactory_system2.62329427
15MP0003806_abnormal_nucleotide_metabolis2.61579228
16MP0004858_abnormal_nervous_system2.49822142
17MP0003705_abnormal_hypodermis_morpholog2.18389407
18MP0004381_abnormal_hair_follicle2.09265215
19MP0009780_abnormal_chondrocyte_physiolo2.07638526
20MP0008877_abnormal_DNA_methylation2.07052992
21MP0002938_white_spotting2.04399494
22MP0002332_abnormal_exercise_endurance2.04005457
23MP0005171_absent_coat_pigmentation2.03714219
24MP0000678_abnormal_parathyroid_gland2.02583830
25MP0003122_maternal_imprinting2.00803090
26MP0005257_abnormal_intraocular_pressure2.00459728
27MP0004043_abnormal_pH_regulation1.91853625
28MP0006035_abnormal_mitochondrial_morpho1.90776618
29MP0003252_abnormal_bile_duct1.90728900
30MP0008057_abnormal_DNA_replication1.87997371
31MP0008961_abnormal_basal_metabolism1.87399065
32MP0003183_abnormal_peptide_metabolism1.85521238
33MP0009697_abnormal_copulation1.84879917
34MP0002277_abnormal_respiratory_mucosa1.81960916
35MP0003942_abnormal_urinary_system1.76935164
36MP0006082_CNS_inflammation1.75001954
37MP0010329_abnormal_lipoprotein_level1.74673936
38MP0003937_abnormal_limbs/digits/tail_de1.72177544
39MP0002234_abnormal_pharynx_morphology1.68119980
40MP0005503_abnormal_tendon_morphology1.53534440
41MP0000609_abnormal_liver_physiology1.53463432
42MP0009840_abnormal_foam_cell1.52852965
43MP0002132_abnormal_respiratory_system1.51732452
44MP0001299_abnormal_eye_distance/1.51666086
45MP0005319_abnormal_enzyme/_coenzyme1.50160013
46MP0004233_abnormal_muscle_weight1.43165829
47MP0001661_extended_life_span1.38747566
48MP0005248_abnormal_Harderian_gland1.38047639
49MP0000383_abnormal_hair_follicle1.35595730
50MP0000569_abnormal_digit_pigmentation1.35326717
51MP0000749_muscle_degeneration1.34779431
52MP0002127_abnormal_cardiovascular_syste1.34266574
53MP0000534_abnormal_ureter_morphology1.33028860
54MP0003136_yellow_coat_color1.29986874
55MP0003195_calcinosis1.29502772
56MP0005266_abnormal_metabolism1.29390843
57MP0000427_abnormal_hair_cycle1.28046279
58MP0001849_ear_inflammation1.27623899
59MP0004957_abnormal_blastocyst_morpholog1.27167936
60MP0010386_abnormal_urinary_bladder1.26948147
61MP0004145_abnormal_muscle_electrophysio1.26133061
62MP0005670_abnormal_white_adipose1.25702449
63MP0010352_gastrointestinal_tract_polyps1.23768775
64MP0003755_abnormal_palate_morphology1.23317903
65MP0001672_abnormal_embryogenesis/_devel1.22253770
66MP0005380_embryogenesis_phenotype1.22253770
67MP0002088_abnormal_embryonic_growth/wei1.21116404
68MP0002102_abnormal_ear_morphology1.18896780
69MP0002653_abnormal_ependyma_morphology1.17746333
70MP0000538_abnormal_urinary_bladder1.17633583
71MP0002092_abnormal_eye_morphology1.17439437
72MP0003984_embryonic_growth_retardation1.16837558
73MP0002970_abnormal_white_adipose1.16769242
74MP0002160_abnormal_reproductive_system1.16499898
75MP0002009_preneoplasia1.14855482
76MP0003121_genomic_imprinting1.14072092
77MP0009250_abnormal_appendicular_skeleto1.13865262
78MP0005253_abnormal_eye_physiology1.13056027
79MP0005332_abnormal_amino_acid1.12965788
80MP0002084_abnormal_developmental_patter1.12477420
81MP0005551_abnormal_eye_electrophysiolog1.11737253
82MP0003950_abnormal_plasma_membrane1.09486086
83MP0003786_premature_aging1.08957961
84MP0000631_abnormal_neuroendocrine_gland1.08895035
85MP0001293_anophthalmia1.08731416
86MP0003868_abnormal_feces_composition1.06327735
87MP0002396_abnormal_hematopoietic_system1.04686195
88MP0010678_abnormal_skin_adnexa1.03712184
89MP0001984_abnormal_olfaction1.03013316
90MP0000566_synostosis1.00455408
91MP0003935_abnormal_craniofacial_develop0.99369882
92MP0000013_abnormal_adipose_tissue0.99153091
93MP0003943_abnormal_hepatobiliary_system0.99144359
94MP0004272_abnormal_basement_membrane0.98324497
95MP0005187_abnormal_penis_morphology0.98059589
96MP0003938_abnormal_ear_development0.97419100
97MP0003385_abnormal_body_wall0.97158289
98MP0000537_abnormal_urethra_morphology0.96036806
99MP0008438_abnormal_cutaneous_collagen0.96027734
100MP0010368_abnormal_lymphatic_system0.95805313
101MP0002108_abnormal_muscle_morphology0.95445925
102MP0002697_abnormal_eye_size0.93908035
103MP0005367_renal/urinary_system_phenotyp0.93196692
104MP0000516_abnormal_urinary_system0.93196692
105MP0001666_abnormal_nutrient_absorption0.92831009
106MP0002932_abnormal_joint_morphology0.92336677
107MP0006072_abnormal_retinal_apoptosis0.91941483
108MP0000778_abnormal_nervous_system0.91870991
109MP0008789_abnormal_olfactory_epithelium0.91808464
110MP0005389_reproductive_system_phenotype0.91793083
111MP0002116_abnormal_craniofacial_bone0.91042429
112MP0002249_abnormal_larynx_morphology0.90723988
113MP0008995_early_reproductive_senescence0.89834176
114MP0002210_abnormal_sex_determination0.89563846
115MP0002118_abnormal_lipid_homeostasis0.88861608
116MP0000432_abnormal_head_morphology0.88193361
117MP0000372_irregular_coat_pigmentation0.88127983
118MP0002877_abnormal_melanocyte_morpholog0.86877090
119MP0003191_abnormal_cellular_cholesterol0.86725937
120MP0002184_abnormal_innervation0.86135436
121MP0003186_abnormal_redox_activity0.85301860
122MP0004134_abnormal_chest_morphology0.84992175
123MP0000762_abnormal_tongue_morphology0.84908195
124MP0002928_abnormal_bile_duct0.84099500
125MP0008775_abnormal_heart_ventricle0.83967120
126MP0000428_abnormal_craniofacial_morphol0.83937386
127MP0003936_abnormal_reproductive_system0.83168041
128MP0000653_abnormal_sex_gland0.82872358
129MP0005083_abnormal_biliary_tract0.82843244
130MP0003283_abnormal_digestive_organ0.82781831
131MP0002109_abnormal_limb_morphology0.81743410
132MP0002086_abnormal_extraembryonic_tissu0.81157831
133MP0002233_abnormal_nose_morphology0.81091557
134MP0001145_abnormal_male_reproductive0.80728172
135MP0006054_spinal_hemorrhage0.80428989
136MP0003861_abnormal_nervous_system0.80409968
137MP0000598_abnormal_liver_morphology0.80272127
138MP0005646_abnormal_pituitary_gland0.79964058
139MP0005408_hypopigmentation0.79768984
140MP0004019_abnormal_vitamin_homeostasis0.78264281
141MP0006036_abnormal_mitochondrial_physio0.77406855
142MP0000639_abnormal_adrenal_gland0.76776296
143MP0003646_muscle_fatigue0.75813251
144MP0003567_abnormal_fetal_cardiomyocyte0.74850231
145MP0003698_abnormal_male_reproductive0.74750213
146MP0003115_abnormal_respiratory_system0.73749448
147MP0001348_abnormal_lacrimal_gland0.72384611
148MP0002168_other_aberrant_phenotype0.72082342
149MP0001929_abnormal_gametogenesis0.71261913
150MP0009765_abnormal_xenobiotic_induced0.68737886
151MP0005376_homeostasis/metabolism_phenot0.68477850
152MP0000049_abnormal_middle_ear0.66720488
153MP0008770_decreased_survivor_rate0.65855384
154MP0002269_muscular_atrophy0.65380902
155MP0005584_abnormal_enzyme/coenzyme_acti0.62930045
156MP0010030_abnormal_orbit_morphology0.62766633
157MP0001270_distended_abdomen0.62659113
158MP0009115_abnormal_fat_cell0.62536690
159MP0009703_decreased_birth_body0.62427895
160MP0002098_abnormal_vibrissa_morphology0.62413178
161MP0009643_abnormal_urine_homeostasis0.61946652
162MP0005391_vision/eye_phenotype0.60688515
163MP0004782_abnormal_surfactant_physiolog0.60010410
164MP0000647_abnormal_sebaceous_gland0.59726831
165MP0003119_abnormal_digestive_system0.59569202
166MP0004883_abnormal_blood_vessel0.59109010
167MP0008872_abnormal_physiological_respon0.56457531
168MP0002114_abnormal_axial_skeleton0.54469507
169MP0000377_abnormal_hair_follicle0.54378525
170MP0002085_abnormal_embryonic_tissue0.53948395
171MP0001243_abnormal_dermal_layer0.53009406
172MP0009763_increased_sensitivity_to0.53005603
173MP0001286_abnormal_eye_development0.52462963
174MP0000350_abnormal_cell_proliferation0.51988147
175MP0004133_heterotaxia0.51342993
176MP0001324_abnormal_eye_pigmentation0.51229626
177MP0003315_abnormal_perineum_morphology0.49683240
178MP0005452_abnormal_adipose_tissue0.49041613
179MP0005508_abnormal_skeleton_morphology0.48916017

Predicted human phenotypes

RankGene SetZ-score
1Hypochromic microcytic anemia (HP:0004840)6.96017087
2Bilateral microphthalmos (HP:0007633)6.77903976
3Hepatoblastoma (HP:0002884)5.57802382
4Multiple enchondromatosis (HP:0005701)4.71296668
5Hyperinsulinemic hypoglycemia (HP:0000825)4.60372628
6Abnormality of the lower motor neuron (HP:0002366)4.40725779
7Abnormality of the intrinsic pathway (HP:0010989)4.11135509
8Rib fusion (HP:0000902)3.97888422
9Reduced antithrombin III activity (HP:0001976)3.88435811
10Aplasia/Hypoplasia of the fovea (HP:0008060)3.50118394
11Hypoplasia of the fovea (HP:0007750)3.50118394
12Ragged-red muscle fibers (HP:0003200)3.49217963
13Abnormality of aromatic amino acid family metabolism (HP:0004338)3.37042998
14Neoplasm of striated muscle (HP:0009728)3.34276662
15True hermaphroditism (HP:0010459)3.28038780
16Anomalous pulmonary venous return (HP:0010772)3.25027002
17Ependymoma (HP:0002888)3.24588717
18Testicular atrophy (HP:0000029)3.19233232
19Rhabdomyosarcoma (HP:0002859)3.15817863
20Skin nodule (HP:0200036)3.10294374
21Intrahepatic cholestasis (HP:0001406)3.08511280
22Abnormal cartilage morphology (HP:0002763)3.05268801
23Partial duplication of thumb phalanx (HP:0009944)2.92384014
24Type II lissencephaly (HP:0007260)2.89483141
25Abnormality of monocarboxylic acid metabolism (HP:0010996)2.88572303
26Deep venous thrombosis (HP:0002625)2.87931643
27Rectal fistula (HP:0100590)2.85937239
28Rectovaginal fistula (HP:0000143)2.85937239
29Bifid tongue (HP:0010297)2.85149706
30Nephroblastoma (Wilms tumor) (HP:0002667)2.81326873
31Joint hemorrhage (HP:0005261)2.81075486
32Pancreatic fibrosis (HP:0100732)2.79336708
33Hypochromic anemia (HP:0001931)2.75884674
34Xanthomatosis (HP:0000991)2.73756333
35Intestinal fistula (HP:0100819)2.72450611
36Vaginal fistula (HP:0004320)2.71904461
37Abnormality of small intestinal villus morphology (HP:0011472)2.69409491
38Villous atrophy (HP:0011473)2.69409491
39Chromosomal breakage induced by crosslinking agents (HP:0003221)2.68598102
40Abnormality of the pulmonary veins (HP:0011718)2.67564797
41Osteomalacia (HP:0002749)2.63965744
423-Methylglutaconic aciduria (HP:0003535)2.63237638
43Tetraplegia (HP:0002445)2.57736772
44Abnormality of the renal cortex (HP:0011035)2.57096915
45Upper motor neuron abnormality (HP:0002127)2.55771536
46Abnormality of the fovea (HP:0000493)2.55511975
47Embryonal renal neoplasm (HP:0011794)2.55122026
48Hyperglycinuria (HP:0003108)2.53859938
49Aplasia/Hypoplasia of the macula (HP:0008059)2.53493854
50Fused cervical vertebrae (HP:0002949)2.51135747
51Medial flaring of the eyebrow (HP:0010747)2.50331358
52Abnormality of midbrain morphology (HP:0002418)2.49950495
53Molar tooth sign on MRI (HP:0002419)2.49950495
54Prolonged partial thromboplastin time (HP:0003645)2.49119097
55Nephronophthisis (HP:0000090)2.48973731
56Renal cortical cysts (HP:0000803)2.44900093
57Partial duplication of the phalanx of hand (HP:0009999)2.43418647
58Cerebellar dysplasia (HP:0007033)2.42927094
59Abnormality of the salivary glands (HP:0010286)2.40172193
60Short 5th finger (HP:0009237)2.39546196
61Hyperlipoproteinemia (HP:0010980)2.37768083
62Pancreatic cysts (HP:0001737)2.36939688
63Gonadal dysgenesis (HP:0000133)2.36411636
64Malnutrition (HP:0004395)2.35793499
65Difficulty running (HP:0009046)2.30715684
66Preauricular skin tag (HP:0000384)2.30310648
67Abnormal biliary tract physiology (HP:0012439)2.29754451
68Bile duct proliferation (HP:0001408)2.29754451
69Preauricular pit (HP:0004467)2.29326622
70Periauricular skin pits (HP:0100277)2.29326622
71Congenital primary aphakia (HP:0007707)2.28479629
72Type I transferrin isoform profile (HP:0003642)2.27575052
73Amyotrophic lateral sclerosis (HP:0007354)2.26206561
74Nephrogenic diabetes insipidus (HP:0009806)2.25485689
75Aplasia/Hypoplasia affecting the retina (HP:0008061)2.24198319
76Gout (HP:0001997)2.23620041
77Abnormality of glycine metabolism (HP:0010895)2.21022038
78Abnormality of serine family amino acid metabolism (HP:0010894)2.21022038
79Pseudobulbar signs (HP:0002200)2.20941438
80Horizontal nystagmus (HP:0000666)2.20806162
81Tubular atrophy (HP:0000092)2.20506623
82Gait imbalance (HP:0002141)2.20221670
83Sensory axonal neuropathy (HP:0003390)2.16528584
84Hypoplasia of the pons (HP:0012110)2.16388098
85Nasolacrimal duct obstruction (HP:0000579)2.16100383
86Aplasia/Hypoplasia of the 5th finger (HP:0006262)2.16004739
87Calf muscle hypertrophy (HP:0008981)2.15716846
88Chronic hepatic failure (HP:0100626)2.15414432
89Testicular neoplasm (HP:0010788)2.14075403
90Pancreatic islet-cell hyperplasia (HP:0004510)2.12641399
91Impulsivity (HP:0100710)2.11739637
92Abnormality of the renal medulla (HP:0100957)2.11018304
93Chromsome breakage (HP:0040012)2.09751316
94Abnormality of the pons (HP:0007361)2.08905889
95Astrocytoma (HP:0009592)2.04809919
96Abnormality of the astrocytes (HP:0100707)2.04809919
97Hypoplastic ischia (HP:0003175)2.04762654
98Hypoalphalipoproteinemia (HP:0003233)2.04072166
99Progressive muscle weakness (HP:0003323)2.03512273
100Male pseudohermaphroditism (HP:0000037)2.03442440
101Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.03417687
102Poor coordination (HP:0002370)2.02613418
103Skin tags (HP:0010609)2.00508794
104Abnormality of the aortic arch (HP:0012303)1.99763262
105Short humerus (HP:0005792)1.99168142
106Large earlobe (HP:0009748)1.98940144
107Generalized hypotonia (HP:0001290)1.98719359
108Ketosis (HP:0001946)1.97191736
109Abnormality of the Achilles tendon (HP:0005109)1.95979920
110Combined immunodeficiency (HP:0005387)1.95844937
111Vaginal atresia (HP:0000148)1.94347719
112Neoplasm of the heart (HP:0100544)1.94319738
113Hypoplastic left heart (HP:0004383)1.93944128
114Aplasia/hypoplasia of the humerus (HP:0006507)1.93492477
115Abnormality of the ischium (HP:0003174)1.93341801
116Genital tract atresia (HP:0001827)1.93172264
117Status epilepticus (HP:0002133)1.89417399
118Tubulointerstitial nephritis (HP:0001970)1.89355248
119Occipital encephalocele (HP:0002085)1.87352107
120Abnormal ventriculo-arterial connection (HP:0011563)1.86552972
121Transposition of the great arteries (HP:0001669)1.86552972
122Abnormal connection of the cardiac segments (HP:0011545)1.86552972
123Hyperglycinemia (HP:0002154)1.84708950
124Progressive external ophthalmoplegia (HP:0000590)1.84685745
125Muscle hypertrophy of the lower extremities (HP:0008968)1.84396743
126Abnormality of sulfur amino acid metabolism (HP:0004339)1.84268841
127Hypopigmentation of the fundus (HP:0007894)1.83814014
128Abnormality of glycolipid metabolism (HP:0010969)1.83553113
129Abnormality of liposaccharide metabolism (HP:0010968)1.83553113
130Abnormality of glycosphingolipid metabolism (HP:0004343)1.83553113
131Postaxial foot polydactyly (HP:0001830)1.82956590
132Concave nail (HP:0001598)1.82383228
133Ketoacidosis (HP:0001993)1.81206455
134Spastic tetraparesis (HP:0001285)1.80832151
135Abnormality of glycolysis (HP:0004366)1.80416379
136Increased serum pyruvate (HP:0003542)1.80416379
137Abnormality of the pubic bones (HP:0003172)1.80367090
138Microvesicular hepatic steatosis (HP:0001414)1.79990444
139Volvulus (HP:0002580)1.75998530
140Hypoplastic heart (HP:0001961)1.74920153
141Cystic liver disease (HP:0006706)1.73409266
142Sclerocornea (HP:0000647)1.72450062
143Disproportionate short-trunk short stature (HP:0003521)1.67632307
144Entropion (HP:0000621)1.63637394
145Aplasia/Hypoplasia of the tongue (HP:0010295)1.62172858
146Large for gestational age (HP:0001520)1.61020479
147Arthropathy (HP:0003040)1.57593087
148Ectopic kidney (HP:0000086)1.56365792
149Methylmalonic acidemia (HP:0002912)1.56105439
150Tented upper lip vermilion (HP:0010804)1.55904651
151Mesangial abnormality (HP:0001966)1.55519550
152Abnormality of DNA repair (HP:0003254)1.54948251
153Abnormality of dentin (HP:0010299)1.54220380
154High anterior hairline (HP:0009890)1.53617783
155Postaxial hand polydactyly (HP:0001162)1.53216283
156Shoulder girdle muscle weakness (HP:0003547)1.52597093
157Hypoplastic iliac wings (HP:0002866)1.52262195
158Stage 5 chronic kidney disease (HP:0003774)1.51775734
159Short foot (HP:0001773)1.50912952
160Lissencephaly (HP:0001339)1.50774131
161Small hand (HP:0200055)1.49372220
162Degeneration of the lateral corticospinal tracts (HP:0002314)1.47266093
163Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.47266093
164Female pseudohermaphroditism (HP:0010458)1.46234851
165Coronal craniosynostosis (HP:0004440)1.46033149
166Gaze-evoked nystagmus (HP:0000640)1.45001606
167Aplasia/Hypoplasia of the uvula (HP:0010293)1.44812460
168Increased corneal curvature (HP:0100692)1.44032731
169Keratoconus (HP:0000563)1.44032731
170Aplasia/Hypoplasia of the lens (HP:0008063)1.42975458
171Congenital hepatic fibrosis (HP:0002612)1.41423698
172Pachygyria (HP:0001302)1.40838070
173Tubulointerstitial abnormality (HP:0001969)1.38057398
174Hypoplastic pelvis (HP:0008839)1.37876211
175Abnormal pancreas size (HP:0012094)1.35256395
176Short thorax (HP:0010306)1.35200200
177Infantile muscular hypotonia (HP:0008947)1.34313016
178Micropenis (HP:0000054)1.34006522
179Short nail (HP:0001799)1.30772185
180Preaxial foot polydactyly (HP:0001841)1.30586270
181Highly arched eyebrow (HP:0002553)1.29872128
182Severe muscular hypotonia (HP:0006829)1.29093505
183Chorioretinal atrophy (HP:0000533)1.28426324
184Pterygium (HP:0001059)1.28192304
185Abnormality of the parathyroid morphology (HP:0011766)1.28167553
186Abnormality of the carotid arteries (HP:0005344)1.28067293
187Neonatal short-limb short stature (HP:0008921)1.27867700
188Multicystic kidney dysplasia (HP:0000003)1.27582299
189Retinal dysplasia (HP:0007973)1.26439441

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK127.60399561
2ERN15.51604907
3GRK54.88458151
4GRK64.39319590
5WNK43.84638000
6STK393.64584242
7GRK13.40853560
8ADRBK23.22813002
9FRK3.20506676
10CSF1R3.04918112
11PNCK2.87780916
12TGFBR22.77652842
13NEK92.38165853
14TYRO32.35372838
15MAPK72.26774301
16MATK2.23045098
17CAMK1G2.15522628
18GRK72.12022136
19STK102.08886210
20WNK11.92398980
21MET1.86970967
22MAP3K41.82507421
23ZAK1.79708441
24BRSK21.73639080
25PHKG11.68397756
26PHKG21.68397756
27TTK1.67506357
28TAOK21.59887568
29MOS1.57857197
30BMPR1B1.55426175
31HIPK21.55033500
32WEE11.53984215
33PRKG21.53672158
34OBSCN1.48918997
35STK38L1.47840499
36MAP4K21.44319734
37BCKDK1.43378135
38LATS11.42292148
39TLK11.40590705
40FGFR31.39605851
41MST1R1.37738182
42CASK1.35741720
43CAMK41.35089338
44SIK11.28568099
45TAF11.28437554
46EPHA21.28045311
47NTRK11.26407940
48CDC71.23380589
49CDK71.21968171
50NUAK11.17647489
51MARK21.16854527
52MAP2K41.16551228
53ITK1.10099137
54CSNK1G11.06306728
55MAPK151.06268574
56TAOK11.05660158
57AKT31.03512382
58CDK31.03155134
59FGFR40.99934331
60CSK0.97751147
61PAK30.97216884
62EEF2K0.96399294
63MAP3K100.96387866
64MAP2K60.96362690
65MAP3K30.96234844
66PAK40.94493414
67EPHB10.93806931
68ADRBK10.93186099
69FER0.92607203
70MAP3K70.92503944
71CSNK1A1L0.92130181
72SCYL20.89845101
73OXSR10.89773727
74NME10.89497226
75BRSK10.82823843
76TAOK30.82361885
77CSNK1G20.81622928
78PRKD30.79502877
79ATR0.77302206
80MAP2K30.73551435
81SGK20.73194439
82PKN20.72131166
83CSNK1G30.71317160
84PINK10.70351717
85MAPK120.69185883
86PRKCE0.67683683
87ATM0.67229507
88BCR0.67067506
89STK30.67029998
90INSRR0.66366453
91WNK30.66019748
92DMPK0.65732902
93FLT30.65223979
94NEK10.64249627
95TRIB30.64127637
96PLK20.62706377
97CHEK20.61083535
98MKNK20.60932712
99PLK30.59485544
100PAK20.58680036
101IGF1R0.58352059
102MAPK130.58186847
103MUSK0.57772381
104AURKB0.56646815
105EPHB20.55958593
106ACVR1B0.54032942
107LMTK20.53870211
108ERBB30.52915324
109PIK3CA0.52792602
110EPHA30.52504796
111AKT20.52093255
112MTOR0.51535378
113SGK2230.48486068
114SGK4940.48486068
115RIPK10.48257320
116ALK0.45584958
117EIF2AK10.45152805
118PRKDC0.42071829
119PTK20.41761652
120IKBKB0.41703874
121PDGFRA0.41287447
122PRKCG0.41183401
123TNIK0.40787207
124VRK10.40504641
125MELK0.40486021
126CDK10.40338357
127PTK2B0.40107001
128KIT0.39029641
129MAP2K70.38880360
130TRPM70.38439144
131CAMK10.38391074
132SGK30.37780360
133RPS6KA40.37412957
134PRKCD0.36726614
135JAK20.35308471
136CHEK10.34174229
137DYRK30.33085149
138CDK40.31708315
139EIF2AK20.31307771
140SIK30.31120017
141PRKACG0.30327518
142MAP4K10.30251749
143GSK3A0.29070188
144CHUK0.28752384
145PLK10.28681712
146ERBB20.27319743
147INSR0.24870990
148MAP3K50.24202989
149TNK20.22975643
150MAPK40.22551500
151TESK20.22339307
152MAPK10.20071721
153HCK0.19241372
154PRKAA10.19170640
155BLK0.18516765
156BRD40.18101463
157RPS6KB20.18051774
158PRPF4B0.17810305
159CDC42BPA0.17175197
160MAPK100.16210725
161PRKACB0.16142186
162CAMK1D0.15820409
163CDK20.15673823
164PRKCQ0.15472457
165PRKACA0.12924191
166DYRK1B0.12752021
167CSNK1E0.11676963
168AURKA0.11103806
169NLK0.10776759
170TYK20.10188393
171MAP3K110.09692624
172PRKD20.09674942
173LATS20.09613114
174MAPKAPK20.09186132
175GSK3B0.09128460
176PRKAA20.09070993
177MAPK30.08839282
178BTK0.08383624

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007504.66706126
2Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.65696621
3Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009803.33292806
4Primary bile acid biosynthesis_Homo sapiens_hsa001203.11882176
5Pentose and glucuronate interconversions_Homo sapiens_hsa000402.89579976
6Fructose and mannose metabolism_Homo sapiens_hsa000512.77874140
7Tryptophan metabolism_Homo sapiens_hsa003802.69393149
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.52367480
9Complement and coagulation cascades_Homo sapiens_hsa046102.49959271
10Chemical carcinogenesis_Homo sapiens_hsa052042.43380425
11Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.23746891
12Arginine biosynthesis_Homo sapiens_hsa002202.08115157
13Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.96534570
14Nitrogen metabolism_Homo sapiens_hsa009101.92082068
15Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.91025656
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.90502818
17Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.83443168
18Nucleotide excision repair_Homo sapiens_hsa034201.82054906
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.79718541
20Steroid hormone biosynthesis_Homo sapiens_hsa001401.79126836
21Maturity onset diabetes of the young_Homo sapiens_hsa049501.77928071
22Galactose metabolism_Homo sapiens_hsa000521.75737468
23Protein export_Homo sapiens_hsa030601.60049295
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.58538841
25Folate biosynthesis_Homo sapiens_hsa007901.53487549
26Fanconi anemia pathway_Homo sapiens_hsa034601.53224551
27Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.52628543
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.50847002
29Fatty acid degradation_Homo sapiens_hsa000711.47825352
30PPAR signaling pathway_Homo sapiens_hsa033201.47569418
31Linoleic acid metabolism_Homo sapiens_hsa005911.45074809
32alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.44809553
33Homologous recombination_Homo sapiens_hsa034401.43480664
34Arachidonic acid metabolism_Homo sapiens_hsa005901.43364628
35Retinol metabolism_Homo sapiens_hsa008301.40474869
36Selenocompound metabolism_Homo sapiens_hsa004501.34976434
37Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.34435577
38Histidine metabolism_Homo sapiens_hsa003401.28721898
39Basal cell carcinoma_Homo sapiens_hsa052171.27420648
40Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.27010064
41Peroxisome_Homo sapiens_hsa041461.25968604
42Propanoate metabolism_Homo sapiens_hsa006401.22755492
43Butanoate metabolism_Homo sapiens_hsa006501.22314303
44Basal transcription factors_Homo sapiens_hsa030221.16656940
45Hedgehog signaling pathway_Homo sapiens_hsa043401.15802891
46Hippo signaling pathway_Homo sapiens_hsa043901.15802549
47Drug metabolism - other enzymes_Homo sapiens_hsa009831.15005866
48Fatty acid metabolism_Homo sapiens_hsa012121.14288621
49beta-Alanine metabolism_Homo sapiens_hsa004101.14182778
50Phototransduction_Homo sapiens_hsa047441.12440482
51ABC transporters_Homo sapiens_hsa020101.11364626
52Circadian rhythm_Homo sapiens_hsa047101.09714154
53Starch and sucrose metabolism_Homo sapiens_hsa005001.08604622
54Tyrosine metabolism_Homo sapiens_hsa003501.04813687
55One carbon pool by folate_Homo sapiens_hsa006701.03828595
56TGF-beta signaling pathway_Homo sapiens_hsa043501.02741532
57Staphylococcus aureus infection_Homo sapiens_hsa051501.02367527
58Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.01297879
59Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.99804302
60Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.97738823
61Bile secretion_Homo sapiens_hsa049760.96598914
62Cysteine and methionine metabolism_Homo sapiens_hsa002700.96072234
63ECM-receptor interaction_Homo sapiens_hsa045120.94572627
64Caffeine metabolism_Homo sapiens_hsa002320.93881791
65RNA degradation_Homo sapiens_hsa030180.93074232
66Lysine degradation_Homo sapiens_hsa003100.92703368
67Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.89475322
68N-Glycan biosynthesis_Homo sapiens_hsa005100.88675518
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.88489645
70Phenylalanine metabolism_Homo sapiens_hsa003600.88010845
71Fatty acid elongation_Homo sapiens_hsa000620.87690383
72Biosynthesis of amino acids_Homo sapiens_hsa012300.83970736
73Carbon metabolism_Homo sapiens_hsa012000.83353610
74Thyroid cancer_Homo sapiens_hsa052160.82706254
75Glycosaminoglycan degradation_Homo sapiens_hsa005310.82160132
76Non-homologous end-joining_Homo sapiens_hsa034500.81121737
77RNA transport_Homo sapiens_hsa030130.80745422
78Glycerolipid metabolism_Homo sapiens_hsa005610.80549025
79Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.78674476
802-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.75196795
81Pentose phosphate pathway_Homo sapiens_hsa000300.74547662
82Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.69495384
83mTOR signaling pathway_Homo sapiens_hsa041500.67950327
84Mismatch repair_Homo sapiens_hsa034300.67465749
85Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.67162593
86Axon guidance_Homo sapiens_hsa043600.66998132
87Wnt signaling pathway_Homo sapiens_hsa043100.65943860
88RNA polymerase_Homo sapiens_hsa030200.65493408
89Fat digestion and absorption_Homo sapiens_hsa049750.63313748
90Sulfur relay system_Homo sapiens_hsa041220.63168973
91Cell cycle_Homo sapiens_hsa041100.63031812
92Steroid biosynthesis_Homo sapiens_hsa001000.62854152
93Base excision repair_Homo sapiens_hsa034100.62709619
94Tight junction_Homo sapiens_hsa045300.60789190
95Purine metabolism_Homo sapiens_hsa002300.60777738
96Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.59475352
97Ovarian steroidogenesis_Homo sapiens_hsa049130.58160298
98Pyrimidine metabolism_Homo sapiens_hsa002400.57343331
99Sulfur metabolism_Homo sapiens_hsa009200.55238844
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.54695217
101Huntingtons disease_Homo sapiens_hsa050160.54358222
102Inositol phosphate metabolism_Homo sapiens_hsa005620.53414639
103Other glycan degradation_Homo sapiens_hsa005110.53013051
104mRNA surveillance pathway_Homo sapiens_hsa030150.52283999
105RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.52202402
106Regulation of autophagy_Homo sapiens_hsa041400.49980028
107Glycerophospholipid metabolism_Homo sapiens_hsa005640.49938722
108Insulin resistance_Homo sapiens_hsa049310.49528976
109Arginine and proline metabolism_Homo sapiens_hsa003300.49206752
110Sphingolipid metabolism_Homo sapiens_hsa006000.49114644
111Insulin secretion_Homo sapiens_hsa049110.47927714
112Adherens junction_Homo sapiens_hsa045200.47232003
113DNA replication_Homo sapiens_hsa030300.46835010
114Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46730597
115Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.46030247
116Glutathione metabolism_Homo sapiens_hsa004800.44371842
117Pyruvate metabolism_Homo sapiens_hsa006200.44274909
118Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.44058820
119Acute myeloid leukemia_Homo sapiens_hsa052210.44057961
120Thyroid hormone synthesis_Homo sapiens_hsa049180.42890019
121AMPK signaling pathway_Homo sapiens_hsa041520.41405912
122* Metabolic pathways_Homo sapiens_hsa011000.40776106
123Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37664162
124Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.35133021
125Cyanoamino acid metabolism_Homo sapiens_hsa004600.34048490
126Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.33806317
127Central carbon metabolism in cancer_Homo sapiens_hsa052300.31672387
128Adipocytokine signaling pathway_Homo sapiens_hsa049200.31373809
129Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.30609952
130Primary immunodeficiency_Homo sapiens_hsa053400.29048811
131Ether lipid metabolism_Homo sapiens_hsa005650.25116913
132Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.24923415
133Non-small cell lung cancer_Homo sapiens_hsa052230.24525443
134Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.24276543
135NF-kappa B signaling pathway_Homo sapiens_hsa040640.23424981
136Phospholipase D signaling pathway_Homo sapiens_hsa040720.23208521
137Fatty acid biosynthesis_Homo sapiens_hsa000610.20082549
138Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.19474431
139Vitamin digestion and absorption_Homo sapiens_hsa049770.18497528
140Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.16787206
141Choline metabolism in cancer_Homo sapiens_hsa052310.15728320
142Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.11563313

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