COL9A2

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 one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1chondrocyte development (GO:0002063)9.75230946
2keratan sulfate catabolic process (GO:0042340)8.74620280
3notochord development (GO:0030903)8.31595544
4negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)7.63655536
5limb bud formation (GO:0060174)7.51658264
6collagen fibril organization (GO:0030199)7.44145490
7positive regulation of extracellular matrix organization (GO:1903055)6.84496178
8cartilage development (GO:0051216)6.02652852
9embryonic skeletal joint morphogenesis (GO:0060272)5.89691725
10endocardial cushion morphogenesis (GO:0003203)5.73981503
11proteoglycan metabolic process (GO:0006029)5.43500948
12chondrocyte differentiation (GO:0002062)5.43261332
13lipopolysaccharide biosynthetic process (GO:0009103)5.22078805
14regulation of extracellular matrix disassembly (GO:0010715)5.15748525
15* collagen catabolic process (GO:0030574)5.09113679
16replacement ossification (GO:0036075)5.01875938
17endochondral ossification (GO:0001958)5.01875938
18mesenchyme morphogenesis (GO:0072132)4.94835565
19* collagen metabolic process (GO:0032963)4.93139149
20endothelial cell morphogenesis (GO:0001886)4.88562791
21protein retention in ER lumen (GO:0006621)4.69380693
22* multicellular organismal catabolic process (GO:0044243)4.65048716
23* multicellular organismal macromolecule metabolic process (GO:0044259)4.59796474
24central nervous system myelination (GO:0022010)4.46038158
25axon ensheathment in central nervous system (GO:0032291)4.46038158
26auditory receptor cell differentiation (GO:0042491)4.45470625
27maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.42795856
28peptidyl-tyrosine autophosphorylation (GO:0038083)4.42767479
29lipopolysaccharide metabolic process (GO:0008653)4.37825402
30positive regulation of chondrocyte differentiation (GO:0032332)4.37528744
31chondroitin sulfate biosynthetic process (GO:0030206)4.35070775
32* multicellular organismal metabolic process (GO:0044236)4.34819396
33regulation of extracellular matrix organization (GO:1903053)4.31245375
34detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.29405283
35keratan sulfate biosynthetic process (GO:0018146)4.26252187
36sphingomyelin metabolic process (GO:0006684)4.23785165
37regulation of ARF protein signal transduction (GO:0032012)4.07437739
38response to muramyl dipeptide (GO:0032495)4.04082980
39B cell receptor signaling pathway (GO:0050853)4.03876452
40* skeletal system development (GO:0001501)4.02753290
41cellular response to BMP stimulus (GO:0071773)4.01032022
42response to BMP (GO:0071772)4.01032022
43mannose metabolic process (GO:0006013)3.95193971
44iron ion import (GO:0097286)3.95047781
45positive regulation of cartilage development (GO:0061036)3.94308261
46* extracellular matrix disassembly (GO:0022617)3.94236781
47connective tissue development (GO:0061448)3.94236622
48bone trabecula formation (GO:0060346)3.90666543
49hypotonic response (GO:0006971)3.88978979
50regulation of plasminogen activation (GO:0010755)3.87842672
51glycoprotein metabolic process (GO:0009100)3.85972494
52positive regulation of Rap GTPase activity (GO:0032854)3.79840360
53positive regulation of hormone biosynthetic process (GO:0046886)3.75507582
54negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.74108347
55nucleotide-sugar biosynthetic process (GO:0009226)3.64398241
56regulation of transforming growth factor beta2 production (GO:0032909)3.57513324
57regulation of heart morphogenesis (GO:2000826)3.56598707
58heart valve formation (GO:0003188)3.56316484
59negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.55499514
60type B pancreatic cell proliferation (GO:0044342)3.53879559
61nephron tubule formation (GO:0072079)3.51313419
62negative regulation of cartilage development (GO:0061037)3.51228931
63inner ear morphogenesis (GO:0042472)3.50879474
64regulation of chondrocyte differentiation (GO:0032330)3.49249331
65keratan sulfate metabolic process (GO:0042339)3.48624990
66short-term memory (GO:0007614)3.48310959
67regulation of ARF GTPase activity (GO:0032312)3.48150419
68L-amino acid import (GO:0043092)3.47828536
69peptidyl-proline hydroxylation (GO:0019511)3.46845376
70positive regulation of synapse maturation (GO:0090129)3.45621375
71negative regulation of erythrocyte differentiation (GO:0045647)3.44801912
72negative regulation of smooth muscle cell differentiation (GO:0051151)3.42822980
73sensory perception of sound (GO:0007605)3.42045560
74inner ear receptor cell differentiation (GO:0060113)3.41289348
75diterpenoid biosynthetic process (GO:0016102)3.38967585
76negative regulation of chondrocyte differentiation (GO:0032331)3.37289968
77ossification (GO:0001503)3.37114022
78chondrocyte proliferation (GO:0035988)3.36637424
79sensory perception of mechanical stimulus (GO:0050954)3.35065819
80myelin assembly (GO:0032288)3.35013968
81regulation of cartilage development (GO:0061035)3.34890469
82cochlea morphogenesis (GO:0090103)3.32461332
83response to gravity (GO:0009629)3.31912784
84regulation of cell proliferation involved in heart morphogenesis (GO:2000136)3.31605806
85heart valve morphogenesis (GO:0003179)3.30177883
86positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.29666074
87negative regulation of gluconeogenesis (GO:0045721)3.26915978
88regulation of Rap GTPase activity (GO:0032317)3.26816865
89synaptic vesicle exocytosis (GO:0016079)3.21684399
90glycosaminoglycan biosynthetic process (GO:0006024)3.19701486
91regulation of B cell receptor signaling pathway (GO:0050855)3.17052276
92glycoprotein catabolic process (GO:0006516)3.17050251
93endodermal cell differentiation (GO:0035987)3.16433606
94aminoglycan biosynthetic process (GO:0006023)3.14651766
95* extracellular matrix organization (GO:0030198)3.09781428
96synaptic vesicle docking involved in exocytosis (GO:0016081)3.09637934
97* extracellular structure organization (GO:0043062)3.08881172
98epithelial to mesenchymal transition (GO:0001837)3.05684818
99cellular glucuronidation (GO:0052695)3.03807715
100positive regulation of cellular amide metabolic process (GO:0034250)3.01447399
101positive thymic T cell selection (GO:0045059)3.00821469
102regulation of mesenchymal cell apoptotic process (GO:2001053)2.99418202
103type B pancreatic cell development (GO:0003323)2.99140685
104otic vesicle formation (GO:0030916)2.98912379
105Golgi transport vesicle coating (GO:0048200)2.98036766
106COPI coating of Golgi vesicle (GO:0048205)2.98036766
107myelin maintenance (GO:0043217)2.96454446
108antigen processing and presentation of endogenous antigen (GO:0019883)2.95631409
109lateral sprouting from an epithelium (GO:0060601)2.94991365
110response to peptidoglycan (GO:0032494)2.94854829
111germinal center formation (GO:0002467)2.93105648
112activation of Rac GTPase activity (GO:0032863)2.92967853
113CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.92678707
114regulation of somitogenesis (GO:0014807)2.91733162
115positive regulation of gamma-delta T cell activation (GO:0046645)2.89690145
116immunoglobulin mediated immune response (GO:0016064)2.88999161
117embryonic viscerocranium morphogenesis (GO:0048703)2.88713371
118chondroitin sulfate metabolic process (GO:0030204)2.88502093
119neuronal ion channel clustering (GO:0045161)2.88238268
120pinocytosis (GO:0006907)2.87666716
121positive regulation of hormone metabolic process (GO:0032352)2.87119370
122pathway-restricted SMAD protein phosphorylation (GO:0060389)2.86067734
123proteoglycan biosynthetic process (GO:0030166)2.84456368
124regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.83342442
125hair cell differentiation (GO:0035315)2.82588769
126thymic T cell selection (GO:0045061)2.82379187
127photoreceptor cell differentiation (GO:0046530)2.78199579
128eye photoreceptor cell differentiation (GO:0001754)2.78199579
129regulation of steroid hormone biosynthetic process (GO:0090030)2.77561269
130amino acid import (GO:0043090)2.74160780
131positive regulation by symbiont of host defense response (GO:0052509)2.73822902
132modulation by symbiont of host defense response (GO:0052031)2.73822902
133modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.73822902
134modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.73822902
135positive regulation by organism of defense response of other organism involved in symbiotic interact2.73822902
136modulation by symbiont of host immune response (GO:0052553)2.73822902
137negative regulation of cell killing (GO:0031342)2.72465135
138negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.72465135
139regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.71422605
140antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.71074448
141locomotory exploration behavior (GO:0035641)2.69732718
142activation of JUN kinase activity (GO:0007257)2.68877605
143regulation of myeloid leukocyte mediated immunity (GO:0002886)2.68602770
144regulation of synapse maturation (GO:0090128)2.67906973
145regulation of apoptotic cell clearance (GO:2000425)2.67326670
146detection of bacterium (GO:0016045)2.67282625
147regulation of T-helper 2 cell differentiation (GO:0045628)2.67188255
148B cell homeostasis (GO:0001782)2.64272036
149negative regulation of toll-like receptor signaling pathway (GO:0034122)2.63921210
150regulation of cellular amide metabolic process (GO:0034248)2.63087312
151antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.62675593
152phospholipid scrambling (GO:0017121)2.61798708
153sodium ion export (GO:0071436)2.60070627
154histone H3-K36 demethylation (GO:0070544)2.59868988
155glutamate secretion (GO:0014047)2.59802053
156regulation of synaptic vesicle exocytosis (GO:2000300)2.59294644
157macrophage activation involved in immune response (GO:0002281)2.59086263
158histone H4 deacetylation (GO:0070933)2.57955464
159positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.54986185
160cerebellar granule cell differentiation (GO:0021707)2.54045896
161detection of other organism (GO:0098543)2.51540398
162activation of MAPKKK activity (GO:0000185)2.49702192
163signal complex assembly (GO:0007172)2.49269082
164G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.49085535
165histone H3 deacetylation (GO:0070932)2.48921449
166cell-cell junction maintenance (GO:0045217)2.48866148
167regulation of mast cell degranulation (GO:0043304)2.47333636
168regulation of beta-amyloid formation (GO:1902003)2.46544015
169interferon-gamma-mediated signaling pathway (GO:0060333)2.41247240
170positive regulation of protein dephosphorylation (GO:0035307)2.39160689
171regulation of leukocyte degranulation (GO:0043300)2.38627988
172positive regulation of CREB transcription factor activity (GO:0032793)2.37691321
173regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.36431163
174actin filament polymerization (GO:0030041)2.35128624
175positive regulation of macrophage cytokine production (GO:0060907)2.34720425
176regulation of macrophage cytokine production (GO:0010935)2.32290586
177defense response to protozoan (GO:0042832)2.32072936
178regulation of amyloid precursor protein catabolic process (GO:1902991)2.29211042
179regulation of glutamate receptor signaling pathway (GO:1900449)2.28068936
180regulation of gamma-delta T cell activation (GO:0046643)2.27523895
181regulation of regulated secretory pathway (GO:1903305)2.26791666
182regulation of neuronal synaptic plasticity (GO:0048168)2.26668751
183regulation of histone H3-K27 methylation (GO:0061085)2.26221250
184modulation by symbiont of host cellular process (GO:0044068)2.25805821
185Rap protein signal transduction (GO:0032486)2.25373706
186layer formation in cerebral cortex (GO:0021819)2.25008414
187neuromuscular process controlling balance (GO:0050885)2.24309064
188positive regulation of Rac GTPase activity (GO:0032855)2.22461673
189cytoskeletal anchoring at plasma membrane (GO:0007016)2.22420825
190modulation by virus of host process (GO:0019054)2.21126172
191negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.20483502
192positive regulation of B cell differentiation (GO:0045579)2.20299112
193positive regulation of phagocytosis (GO:0050766)2.20192181
194semaphorin-plexin signaling pathway (GO:0071526)2.20148849
195neurotransmitter secretion (GO:0007269)2.19522656
196response to protozoan (GO:0001562)2.19248374
197regulation of phosphatidylinositol 3-kinase activity (GO:0043551)2.19126642
198cartilage development involved in endochondral bone morphogenesis (GO:0060351)12.2646498
199cell aggregation (GO:0098743)11.6263624
200cartilage condensation (GO:0001502)11.6263624

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human8.11541057
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat6.66754695
3TP63_17297297_ChIP-ChIP_HaCaT_Human5.76355666
4AR_21572438_ChIP-Seq_LNCaP_Human3.94415480
5VDR_21846776_ChIP-Seq_THP-1_Human3.90869831
6THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.84533592
7ESR1_21235772_ChIP-Seq_MCF-7_Human3.28550476
8LXR_22292898_ChIP-Seq_THP-1_Human3.21835049
9MYC_22102868_ChIP-Seq_BL_Human3.19040661
10* KDM2B_26808549_Chip-Seq_SUP-B15_Human3.01506610
11EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.86073634
12* KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.50220488
13TCF7_22412390_ChIP-Seq_EML_Mouse2.47155889
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.43278703
15VDR_24763502_ChIP-Seq_THP-1_Human2.42700341
16* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.41435023
17* KDM2B_26808549_Chip-Seq_DND41_Human2.39710529
18MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.38293083
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.33936432
20VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.27123522
21DROSHA_22980978_ChIP-Seq_HELA_Human2.23920044
22GATA1_22025678_ChIP-Seq_K562_Human2.21268922
23SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.11449248
24E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.10745069
25CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.97851780
26IKZF1_21737484_ChIP-ChIP_HCT116_Human1.97764532
27SMAD_19615063_ChIP-ChIP_OVARY_Human1.96602516
28ZFP281_18757296_ChIP-ChIP_E14_Mouse1.96041900
29EZH2_18974828_ChIP-Seq_MESCs_Mouse1.95094631
30RNF2_18974828_ChIP-Seq_MESCs_Mouse1.95094631
31EZH2_27304074_Chip-Seq_ESCs_Mouse1.94877944
32IRF8_22096565_ChIP-ChIP_GC-B_Human1.93144025
33* RACK7_27058665_Chip-Seq_MCF-7_Human1.92561585
34ZNF217_24962896_ChIP-Seq_MCF-7_Human1.91680265
35JARID2_20064375_ChIP-Seq_MESCs_Mouse1.91311739
36* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.89123733
37EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.88368145
38NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.86345973
39RARG_19884340_ChIP-ChIP_MEFs_Mouse1.83210061
40SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.82631424
41TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.82003579
42ELK3_25401928_ChIP-Seq_HUVEC_Human1.81023705
43TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.78806037
44DNAJC2_21179169_ChIP-ChIP_NT2_Human1.78227524
45PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.75099448
46HIF1A_21447827_ChIP-Seq_MCF-7_Human1.74950192
47RARB_27405468_Chip-Seq_BRAIN_Mouse1.70462605
48* MAF_26560356_Chip-Seq_TH1_Human1.70369973
49P68_20966046_ChIP-Seq_HELA_Human1.68992928
50KDM2B_26808549_Chip-Seq_JURKAT_Human1.68521977
51CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.67953557
52JARID2_20075857_ChIP-Seq_MESCs_Mouse1.67478920
53FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.66789532
54ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.66440623
55PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.64570272
56SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.64461039
57ERG_21242973_ChIP-ChIP_JURKAT_Human1.59316153
58CJUN_26792858_Chip-Seq_BT549_Human1.59247150
59SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.59064775
60ZFP281_27345836_Chip-Seq_ESCs_Mouse1.58365046
61SMC4_20622854_ChIP-Seq_HELA_Human1.58255971
62* CREB1_26743006_Chip-Seq_LNCaP_Human1.58249775
63* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.56583841
64MAF_26560356_Chip-Seq_TH2_Human1.55133455
65WT1_19549856_ChIP-ChIP_CCG9911_Human1.52764937
66RNF2_27304074_Chip-Seq_ESCs_Mouse1.51018834
67SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.50479329
68TP53_18474530_ChIP-ChIP_U2OS_Human1.50059204
69MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.46947061
70* SA1_27219007_Chip-Seq_ERYTHROID_Human1.46040526
71GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.45184618
72TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44565593
73POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.44565593
74CLOCK_20551151_ChIP-Seq_293T_Human1.44291948
75GATA1_19941827_ChIP-Seq_MEL_Mouse1.43643211
76RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.43293447
77WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.41596870
78EGR1_19374776_ChIP-ChIP_THP-1_Human1.41030235
79SCL_19346495_ChIP-Seq_HPC-7_Human1.40738661
80* UTX_26944678_Chip-Seq_JUKART_Human1.40704905
81* RUNX1_22412390_ChIP-Seq_EML_Mouse1.40164708
82SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.39595529
83* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37136368
84TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.35345080
85RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.34213711
86SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.33986117
87EP300_21415370_ChIP-Seq_HL-1_Mouse1.31884869
88SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.31538190
89TP53_20018659_ChIP-ChIP_R1E_Mouse1.31355217
90SALL1_21062744_ChIP-ChIP_HESCs_Human1.29899818
91TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.28907593
92BCOR_27268052_Chip-Seq_Bcells_Human1.27863752
93CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.25735389
94ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.24336214
95RUNX1_27514584_Chip-Seq_MCF-7_Human1.23873209
96* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.23294576
97* CTCF_27219007_Chip-Seq_Bcells_Human1.23276159
98GATA3_24758297_ChIP-Seq_MCF-7_Human1.23016175
99SOX2_20726797_ChIP-Seq_SW620_Human1.21677812
100SPI1_23127762_ChIP-Seq_K562_Human1.20719546
101RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.20313379
102BCL6_27268052_Chip-Seq_Bcells_Human1.20133847
103* ELF1_20517297_ChIP-Seq_JURKAT_Human1.20075190
104BRD4_27068464_Chip-Seq_AML-cells_Mouse1.19827279
105HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.19787575
106EZH2_22144423_ChIP-Seq_EOC_Human1.17486134
107* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.16908321
108TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.16468195
109TET1_21451524_ChIP-Seq_MESCs_Mouse1.16408892
110SUZ12_27294783_Chip-Seq_ESCs_Mouse1.15989955
111EZH2_27294783_Chip-Seq_ESCs_Mouse1.15698986
112RXR_22108803_ChIP-Seq_LS180_Human1.14797714
113RING1B_27294783_Chip-Seq_ESCs_Mouse1.14568744
114NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.14242441
115SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.14021449
116MTF2_20144788_ChIP-Seq_MESCs_Mouse1.12977833
117KDM2B_26808549_Chip-Seq_K562_Human1.12619476
118CTBP2_25329375_ChIP-Seq_LNCAP_Human1.10696861
119* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.09435127
120EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.09224602
121SMAD3_21741376_ChIP-Seq_EPCs_Human1.09160699
122FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.08549109
123PU.1_20513432_ChIP-Seq_Bcells_Mouse1.07637645
124ESR1_20079471_ChIP-ChIP_T-47D_Human1.07571350
125PIAS1_25552417_ChIP-Seq_VCAP_Human1.07429537
126PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.07369180
127MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.07354273
128DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.06821482
129* SA1_27219007_Chip-Seq_Bcells_Human1.06297046
130IRF8_27001747_Chip-Seq_BMDM_Mouse1.05915766
131SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.05787891
132OCT4_19829295_ChIP-Seq_ESCs_Human1.05346511
133SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.05267481
134JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.02671684
135SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.02650168
136BRD4_25478319_ChIP-Seq_HGPS_Human1.02524719
137NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.02241547
138NRF2_20460467_ChIP-Seq_MEFs_Mouse1.02241547
139BP1_19119308_ChIP-ChIP_Hs578T_Human1.01967076
140ISL1_27105846_Chip-Seq_CPCs_Mouse1.01405546
141SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01332574
142CTBP1_25329375_ChIP-Seq_LNCAP_Human1.01094504
143NFIB_24661679_ChIP-Seq_LUNG_Mouse1.00594734
144SRY_22984422_ChIP-ChIP_TESTIS_Rat1.00044308
145BMI1_23680149_ChIP-Seq_NPCS_Mouse0.99887256
146GATA1_22383799_ChIP-Seq_G1ME_Mouse0.99410309
147RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.97909309
148FOXO3_23340844_ChIP-Seq_DLD1_Human0.97813898
149STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.97523392
150FOXA2_19822575_ChIP-Seq_HepG2_Human0.96960391
151AHR_22903824_ChIP-Seq_MCF-7_Human0.96867860
152SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95966717
153NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95965482
154ARNT_22903824_ChIP-Seq_MCF-7_Human0.95442861
155FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95396948
156OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93966666
157RING1B_27294783_Chip-Seq_NPCs_Mouse0.93699288
158SALL4_18804426_ChIP-ChIP_XEN_Mouse0.93157481
159PCGF2_27294783_Chip-Seq_ESCs_Mouse0.93154399
160SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.92936255
161* VDR_24787735_ChIP-Seq_THP-1_Human0.92694252
162* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.92648751
163NCOR1_26117541_ChIP-Seq_K562_Human0.92272992
164PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.89134139
165MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.88904358
166SOX2_21211035_ChIP-Seq_LN229_Gbm0.88024454
167SOX9_24532713_ChIP-Seq_HFSC_Mouse0.87806612
168SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85304445
169ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.84380387
170PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.81516583
171JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.81481590
172CBX2_27304074_Chip-Seq_ESCs_Mouse0.81314877
173SA1_22415368_ChIP-Seq_MEFs_Mouse0.80772821
174UBF1/2_26484160_Chip-Seq_HMECs_Human0.80247745
175CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.79052005
176AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.78598962
177* SMC1_22415368_ChIP-Seq_MEFs_Mouse0.78237515
178NR3C1_23031785_ChIP-Seq_PC12_Mouse0.78157152
179WT1_25993318_ChIP-Seq_PODOCYTE_Human0.77640381
180UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.77632577
181* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.77230497
182TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76365852
183* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.76192639
184SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.75884246
185MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.75404098

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004134_abnormal_chest_morphology5.23520158
2MP0002282_abnormal_trachea_morphology5.02804654
3MP0002933_joint_inflammation4.61838558
4MP0003879_abnormal_hair_cell3.99832340
5MP0003172_abnormal_lysosome_physiology3.90191065
6MP0005503_abnormal_tendon_morphology3.68227649
7MP0000163_abnormal_cartilage_morphology3.62065284
8MP0004859_abnormal_synaptic_plasticity3.51215499
9MP0009250_abnormal_appendicular_skeleto3.44631981
10MP0002115_abnormal_skeleton_extremities3.00231121
11MP0009780_abnormal_chondrocyte_physiolo2.90740212
12MP0003303_peritoneal_inflammation2.86157972
13MP0005377_hearing/vestibular/ear_phenot2.82193160
14MP0003878_abnormal_ear_physiology2.82193160
15MP0005058_abnormal_lysosome_morphology2.78530374
16MP0000762_abnormal_tongue_morphology2.74194723
17MP0001963_abnormal_hearing_physiology2.64808559
18MP0003646_muscle_fatigue2.59365631
19MP0003183_abnormal_peptide_metabolism2.54785839
20MP0003123_paternal_imprinting2.54556084
21MP0003690_abnormal_glial_cell2.53678847
22MP0001485_abnormal_pinna_reflex2.48386147
23MP0002113_abnormal_skeleton_development2.46335574
24MP0000026_abnormal_inner_ear2.45653309
25MP0002089_abnormal_postnatal_growth/wei2.43163700
26MP0003329_amyloid_beta_deposits2.41707521
27MP0005508_abnormal_skeleton_morphology2.40364762
28MP0001299_abnormal_eye_distance/2.39820788
29MP0000685_abnormal_immune_system2.37637919
30MP0005248_abnormal_Harderian_gland2.36445543
31MP0005423_abnormal_somatic_nervous2.31698559
32MP0002896_abnormal_bone_mineralization2.30308737
33MP0003436_decreased_susceptibility_to2.20318689
34MP0000049_abnormal_middle_ear2.20212501
35MP0005387_immune_system_phenotype2.17976648
36MP0001790_abnormal_immune_system2.17976648
37MP0000920_abnormal_myelination2.11825980
38MP0002109_abnormal_limb_morphology2.06351593
39MP0001270_distended_abdomen2.05767455
40MP0004270_analgesia2.02267508
41MP0002249_abnormal_larynx_morphology2.01319686
42MP0001800_abnormal_humoral_immune2.01023537
43MP0001835_abnormal_antigen_presentation1.99723746
44MP0008260_abnormal_autophagy1.98738283
45MP0009384_cardiac_valve_regurgitation1.98581342
46MP0005390_skeleton_phenotype1.98165609
47MP0005671_abnormal_response_to1.90890761
48MP0002116_abnormal_craniofacial_bone1.88663481
49MP0001533_abnormal_skeleton_physiology1.81348799
50MP0003755_abnormal_palate_morphology1.79359860
51MP0002233_abnormal_nose_morphology1.77664872
52MP0010030_abnormal_orbit_morphology1.74127945
53MP0002064_seizures1.73979853
54MP0005000_abnormal_immune_tolerance1.72108949
55MP0008569_lethality_at_weaning1.71187598
56MP0005025_abnormal_response_to1.70566914
57MP0000604_amyloidosis1.69241077
58MP0004272_abnormal_basement_membrane1.68419635
59MP0003283_abnormal_digestive_organ1.66286699
60MP0003705_abnormal_hypodermis_morpholog1.65186554
61MP0008438_abnormal_cutaneous_collagen1.65089882
62MP0003942_abnormal_urinary_system1.63168813
63MP0002909_abnormal_adrenal_gland1.59844242
64MP0003635_abnormal_synaptic_transmissio1.59411252
65MP0004742_abnormal_vestibular_system1.59087775
66MP0002723_abnormal_immune_serum1.57708890
67MP0002419_abnormal_innate_immunity1.57405540
68MP0003941_abnormal_skin_development1.56370538
69MP0003795_abnormal_bone_structure1.49290006
70MP0002420_abnormal_adaptive_immunity1.49137954
71MP0002452_abnormal_antigen_presenting1.48646923
72MP0001819_abnormal_immune_cell1.47736756
73MP0005310_abnormal_salivary_gland1.46961462
74MP0001348_abnormal_lacrimal_gland1.45277106
75MP0002932_abnormal_joint_morphology1.42166974
76MP0003075_altered_response_to1.41004535
77MP0009278_abnormal_bone_marrow1.40975305
78MP0002166_altered_tumor_susceptibility1.39874025
79MP0000566_synostosis1.38600194
80MP0001486_abnormal_startle_reflex1.38580661
81MP0000432_abnormal_head_morphology1.38354504
82MP0002111_abnormal_tail_morphology1.38262818
83MP0009053_abnormal_anal_canal1.37168600
84MP0002063_abnormal_learning/memory/cond1.37145085
85MP0000751_myopathy1.34958384
86MP0003634_abnormal_glial_cell1.31397071
87MP0004947_skin_inflammation1.27713670
88MP0005275_abnormal_skin_tensile1.27304077
89MP0000534_abnormal_ureter_morphology1.27100570
90MP0000537_abnormal_urethra_morphology1.25904140
91MP0002398_abnormal_bone_marrow1.25711481
92MP0003935_abnormal_craniofacial_develop1.24344059
93MP0000716_abnormal_immune_system1.23083594
94MP0003787_abnormal_imprinting1.22375490
95MP0003880_abnormal_central_pattern1.20777909
96MP0001542_abnormal_bone_strength1.20628141
97MP0002108_abnormal_muscle_morphology1.18977220
98MP0003300_gastrointestinal_ulcer1.18381267
99MP0005464_abnormal_platelet_physiology1.18302869
100MP0003937_abnormal_limbs/digits/tail_de1.17818570
101MP0005167_abnormal_blood-brain_barrier1.17523004
102MP0001286_abnormal_eye_development1.14302398
103MP0004381_abnormal_hair_follicle1.13686900
104MP0003045_fibrosis1.13084423
105MP0006082_CNS_inflammation1.12981933
106MP0003632_abnormal_nervous_system1.11926313
107MP0002114_abnormal_axial_skeleton1.09781204
108MP0004197_abnormal_fetal_growth/weight/1.05962848
109MP0003119_abnormal_digestive_system1.03515542
110MP0000428_abnormal_craniofacial_morphol1.03405274
111MP0003866_abnormal_defecation1.02996761
112MP0003122_maternal_imprinting1.02397319
113MP0002572_abnormal_emotion/affect_behav1.00501694
114MP0003385_abnormal_body_wall1.00165526
115MP0003631_nervous_system_phenotype1.00093564
116MP0009046_muscle_twitch0.99433097
117MP0001502_abnormal_circadian_rhythm0.97403379
118MP0003191_abnormal_cellular_cholesterol0.97398138
119MP0000639_abnormal_adrenal_gland0.96837053
120MP0002734_abnormal_mechanical_nocicepti0.96075099
121MP0009745_abnormal_behavioral_response0.95693739
122MP0001853_heart_inflammation0.95635371
123MP0003633_abnormal_nervous_system0.95085010
124MP0002822_catalepsy0.94774387
125MP0005623_abnormal_meninges_morphology0.93226652
126MP0002429_abnormal_blood_cell0.93120279
127MP0004885_abnormal_endolymph0.92862160
128MP0004858_abnormal_nervous_system0.91012320
129MP0002405_respiratory_system_inflammati0.89578194
130MP0003121_genomic_imprinting0.88041849
131MP0005367_renal/urinary_system_phenotyp0.86969667
132MP0000516_abnormal_urinary_system0.86969667
133MP0003763_abnormal_thymus_physiology0.86222354
134MP0002272_abnormal_nervous_system0.86177890
135MP0000689_abnormal_spleen_morphology0.86106238
136MP0002735_abnormal_chemical_nociception0.83860035
137MP0000955_abnormal_spinal_cord0.83345426
138MP0002229_neurodegeneration0.82948372
139MP0003566_abnormal_cell_adhesion0.81608579
140MP0002722_abnormal_immune_system0.81007544
141MP0005023_abnormal_wound_healing0.80916188
142MP0010155_abnormal_intestine_physiology0.80775356
143MP0002998_abnormal_bone_remodeling0.79473697
144MP0001851_eye_inflammation0.79025063
145MP0003656_abnormal_erythrocyte_physiolo0.76150997
146MP0002006_tumorigenesis0.75571775
147MP0001501_abnormal_sleep_pattern0.75551046
148MP0001845_abnormal_inflammatory_respons0.74575182
149MP0001765_abnormal_ion_homeostasis0.72911086
150MP0008874_decreased_physiological_sensi0.72802421
151MP0003279_aneurysm0.72618784
152MP0008004_abnormal_stomach_pH0.71114088
153MP0004811_abnormal_neuron_physiology0.70693676
154MP0001958_emphysema0.70479584
155MP0002066_abnormal_motor_capabilities/c0.70026294
156MP0009672_abnormal_birth_weight0.69929311
157MP0005645_abnormal_hypothalamus_physiol0.69079512
158MP0004185_abnormal_adipocyte_glucose0.69075559
159MP0005381_digestive/alimentary_phenotyp0.67687508
160MP0003938_abnormal_ear_development0.66455367
161MP0005076_abnormal_cell_differentiation0.63064561
162MP0001340_abnormal_eyelid_morphology0.62189738
163MP0002234_abnormal_pharynx_morphology0.61437370
164MP0001663_abnormal_digestive_system0.61408699
165MP0001849_ear_inflammation0.61049935
166MP0002163_abnormal_gland_morphology0.60802567
167MP0002653_abnormal_ependyma_morphology0.60044212
168MP0001943_abnormal_respiration0.58923852
169MP0001346_abnormal_lacrimal_gland0.58017054
170MP0004084_abnormal_cardiac_muscle0.57397042
171MP0005187_abnormal_penis_morphology0.57379667
172MP0000462_abnormal_digestive_system0.55663205
173MP0004264_abnormal_extraembryonic_tissu0.52819391
174MP0005164_abnormal_response_to0.52455326
175MP0002877_abnormal_melanocyte_morpholog0.50475354
176MP0003115_abnormal_respiratory_system0.49937766
177MP0003195_calcinosis0.46718083
178MP0003091_abnormal_cell_migration0.46568149
179MP0004484_altered_response_of0.46509438
180MP0002098_abnormal_vibrissa_morphology0.45936994
181MP0002060_abnormal_skin_morphology0.45630567
182MP0000377_abnormal_hair_follicle0.45012451
183MP0000613_abnormal_salivary_gland0.43737021

Predicted human phenotypes

RankGene SetZ-score
1* Irregular epiphyses (HP:0010582)8.57038530
2Hypoplastic ischia (HP:0003175)7.74405454
3Abnormality of the ischium (HP:0003174)6.83639327
4Small epiphyses (HP:0010585)6.70830681
5Aplasia/Hypoplasia of the pubic bone (HP:0009104)6.69119989
6* Vitreoretinal degeneration (HP:0000655)6.58995116
7Cupped ribs (HP:0000887)5.66275958
8Delayed epiphyseal ossification (HP:0002663)5.44266302
9Abnormal tarsal ossification (HP:0008369)5.36645946
10Flat capital femoral epiphysis (HP:0003370)5.00367469
11* Genu varum (HP:0002970)4.78957664
12Flat acetabular roof (HP:0003180)4.77576490
13Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)4.73625527
14Absent epiphyses (HP:0010577)4.73625527
15Neonatal short-limb short stature (HP:0008921)4.40208497
16Abnormality of femoral epiphyses (HP:0006499)4.26891978
17Abnormality involving the epiphyses of the lower limbs (HP:0006500)4.26891978
18Metaphyseal cupping (HP:0003021)4.19441214
19Abnormality of the vertebral endplates (HP:0005106)4.07589751
20Abnormality of the pubic bones (HP:0003172)4.00313779
21Gastrointestinal stroma tumor (HP:0100723)3.99030209
22Arthropathy (HP:0003040)3.98843155
23* Osteoarthritis (HP:0002758)3.93440524
24Abnormal foot bone ossification (HP:0010675)3.89819247
25Obstructive sleep apnea (HP:0002870)3.88867562
26Abnormality of the epiphysis of the femoral head (HP:0010574)3.82912682
27Protuberant abdomen (HP:0001538)3.71049745
28Colitis (HP:0002583)3.57961435
29Abnormality of the femoral head (HP:0003368)3.52251516
30Short femoral neck (HP:0100864)3.51323189
31Enlarged epiphyses (HP:0010580)3.50043447
32Recurrent sinusitis (HP:0011108)3.49841627
33Vertebral clefting (HP:0008428)3.49323146
34Abnormal vertebral ossification (HP:0100569)3.40455292
35Metaphyseal dysplasia (HP:0100255)3.39398634
36* Mild short stature (HP:0003502)3.30973025
37Agammaglobulinemia (HP:0004432)3.29470100
38Deep venous thrombosis (HP:0002625)3.21610697
39Irregular vertebral endplates (HP:0003301)3.20567302
40Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)3.18628805
41Increased neuronal autofluorescent lipopigment (HP:0002074)3.15187367
42Mixed hearing impairment (HP:0000410)3.15040475
43Metaphyseal irregularity (HP:0003025)3.14427434
44Mediastinal lymphadenopathy (HP:0100721)3.14063650
45Cervical subluxation (HP:0003308)3.11377034
46Exostoses (HP:0100777)3.11091656
47Increased cerebral lipofuscin (HP:0011813)3.10620922
48* Platyspondyly (HP:0000926)3.07519949
49Glossoptosis (HP:0000162)3.03770508
50Peripheral hypomyelination (HP:0007182)3.02614351
51Abnormality of the proximal phalanges of the hand (HP:0009834)2.96189034
52Ankle clonus (HP:0011448)2.95581361
53Abnormality of the phalanges of the 2nd finger (HP:0009541)2.93437745
54Meningitis (HP:0001287)2.93403876
55Cellulitis (HP:0100658)2.90462193
56Neurofibrillary tangles (HP:0002185)2.86604527
57Coxa vara (HP:0002812)2.86599389
58Barrel-shaped chest (HP:0001552)2.85916635
59Supranuclear gaze palsy (HP:0000605)2.81465464
60* Flattened epiphyses (HP:0003071)2.78468500
61Neuronal loss in central nervous system (HP:0002529)2.76858943
62Abnormality of incisor morphology (HP:0011063)2.69051127
63Thoracolumbar scoliosis (HP:0002944)2.68033668
64Abnormality of binocular vision (HP:0011514)2.67875131
65Diplopia (HP:0000651)2.67875131
66Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.66921643
67Beaking of vertebral bodies (HP:0004568)2.66628311
68Abnormality of carpal bone ossification (HP:0006257)2.65958785
69Scanning speech (HP:0002168)2.63548403
70Limited hip movement (HP:0008800)2.63121446
71Thin ribs (HP:0000883)2.62890355
72Loss of speech (HP:0002371)2.58926507
73Bronchomalacia (HP:0002780)2.58373542
74Limited elbow extension (HP:0001377)2.54779486
75Gastrointestinal inflammation (HP:0004386)2.54182560
76Aplasia/hypoplasia of the femur (HP:0005613)2.53794135
77Stridor (HP:0010307)2.53666576
78Vasculitis (HP:0002633)2.53404973
79Lumbar hyperlordosis (HP:0002938)2.51095330
80Absent frontal sinuses (HP:0002688)2.49154570
81Carpal bone hypoplasia (HP:0001498)2.48128507
82Hip contracture (HP:0003273)2.47671075
83Emphysema (HP:0002097)2.47196254
84Hemorrhage of the eye (HP:0011885)2.44720603
85Hypoplastic pelvis (HP:0008839)2.44428720
86Recurrent bacterial skin infections (HP:0005406)2.42925722
87Restrictive lung disease (HP:0002091)2.42395934
88Recurrent abscess formation (HP:0002722)2.42114788
89* Abnormality of the vitreous humor (HP:0004327)2.41873711
90Papilledema (HP:0001085)2.41017471
91Fibular hypoplasia (HP:0003038)2.40334157
92Inflammation of the large intestine (HP:0002037)2.39563100
93Hypoplastic ilia (HP:0000946)2.37980403
94Ovoid vertebral bodies (HP:0003300)2.37450140
95Stillbirth (HP:0003826)2.33313842
96Eczematoid dermatitis (HP:0000976)2.33221383
97Hypoplasia of the odontoid process (HP:0003311)2.33164311
98Vertebral hypoplasia (HP:0008417)2.31810103
99Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.31810103
100Optic neuritis (HP:0100653)2.31424395
101Retrobulbar optic neuritis (HP:0100654)2.31424395
102Myositis (HP:0100614)2.30416485
103Rhizomelia (HP:0008905)2.24385561
104* Micromelia (HP:0002983)2.23502224
105Dysostosis multiplex (HP:0000943)2.22834576
106Alacrima (HP:0000522)2.22667886
107Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.22024873
108Pulmonary infiltrates (HP:0002113)2.21649590
109Abnormality of the 2nd finger (HP:0004100)2.20798548
110Long clavicles (HP:0000890)2.20378102
111* Waddling gait (HP:0002515)2.20175624
112Cerebral aneurysm (HP:0004944)2.19549002
113Obstructive lung disease (HP:0006536)2.19419936
114Chronic obstructive pulmonary disease (HP:0006510)2.19419936
115Spinal cord compression (HP:0002176)2.18672694
116Mesomelia (HP:0003027)2.18257136
117Recurrent skin infections (HP:0001581)2.17594018
118Abnormal hand bone ossification (HP:0010660)2.17223634
119Chronic mucocutaneous candidiasis (HP:0002728)2.16831311
120Recurrent cutaneous fungal infections (HP:0011370)2.16831311
121Orchitis (HP:0100796)2.16404529
122Flared metaphyses (HP:0003015)2.13989362
123Sprengel anomaly (HP:0000912)2.12615487
124Recurrent gram-negative bacterial infections (HP:0005420)2.10704483
125Abnormal ossification of hand bones (HP:0005921)2.09950667
126Amyloidosis (HP:0011034)2.09121960
127Abnormality of the lumbar spine (HP:0100712)2.08693932
128Annular pancreas (HP:0001734)2.06905411
129Increased IgE level (HP:0003212)2.06520616
130Pulmonary embolism (HP:0002204)2.06257454
131Abnormality of the phalanges of the 5th finger (HP:0004213)2.05946778
132Action tremor (HP:0002345)2.05730817
133Broad phalanx (HP:0006009)2.05642989
134Neoplasm of the heart (HP:0100544)2.05560107
135Visual hallucinations (HP:0002367)2.03419910
136Abnormality of macrophages (HP:0004311)2.02924272
137Short middle phalanx of finger (HP:0005819)2.02908105
138Hyperacusis (HP:0010780)2.02498142
139Chronic otitis media (HP:0000389)2.02300347
140Germ cell neoplasia (HP:0100728)2.02180106
141Recurrent otitis media (HP:0000403)2.01173378
142Synostosis of carpal bones (HP:0005048)2.00743640
143Short ribs (HP:0000773)2.00243017
144Cerebral inclusion bodies (HP:0100314)2.00172160
145Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.00097429
146* Epiphyseal dysplasia (HP:0002656)10.5536170
147Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.99539478
148Thickened helices (HP:0000391)1.97240778
149Disproportionate short-trunk short stature (HP:0003521)1.96671533
150Bell-shaped thorax (HP:0001591)1.96488905
151Abnormality of the peritoneum (HP:0002585)1.96406883
152Recurrent fungal infections (HP:0002841)1.95553903
153Aplasia/Hypoplasia involving the vertebral column (HP:0008518)1.95412486
154Gastrointestinal infarctions (HP:0005244)1.95286936
155Broad long bones (HP:0005622)1.93615308
156Purpura (HP:0000979)1.93455643
157Broad face (HP:0000283)1.92910736
158Glomerulonephritis (HP:0000099)1.92818324
159Recurrent viral infections (HP:0004429)1.92719295
160Abnormality of the intervertebral disk (HP:0005108)1.92055888
161Abnormality of the odontoid process (HP:0003310)1.90976368
162Broad thumb (HP:0011304)1.90420839
163Turricephaly (HP:0000262)1.88940334
164Radial bowing (HP:0002986)1.88701487
165Lymphopenia (HP:0001888)1.86935387
166Myokymia (HP:0002411)1.85776217
167Nasal polyposis (HP:0100582)1.85083677
168Abnormality of the middle phalanges of the toes (HP:0010183)1.82979389
169Segmental peripheral demyelination/remyelination (HP:0003481)1.81567488
170Onion bulb formation (HP:0003383)1.81000851
171Epileptic encephalopathy (HP:0200134)1.80886531
172Slow saccadic eye movements (HP:0000514)1.80577912
173Relative macrocephaly (HP:0004482)1.80249136
174Abnormality of the acetabulum (HP:0003170)1.80152595
175Aplasia involving bones of the extremities (HP:0009825)1.79311204
176Aplasia involving bones of the upper limbs (HP:0009823)1.79311204
177Aplasia of the phalanges of the hand (HP:0009802)1.79311204
178Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.78956147
179Depression (HP:0000716)1.78871454
180Ulnar bowing (HP:0003031)1.77562540
181Spinal canal stenosis (HP:0003416)1.77422745
182Spastic gait (HP:0002064)1.77284143
183Recurrent bronchitis (HP:0002837)1.77017297
184Urinary glycosaminoglycan excretion (HP:0003541)1.76964140
185Mucopolysacchariduria (HP:0008155)1.76964140
186J-shaped sella turcica (HP:0002680)1.75666826
187Abnormality of the fingertips (HP:0001211)1.73970697
188Memory impairment (HP:0002354)1.73360754
189Joint hemorrhage (HP:0005261)1.71884574
190Lower limb asymmetry (HP:0100559)1.70718380
191Systemic lupus erythematosus (HP:0002725)1.70539222
192Recurrent pneumonia (HP:0006532)1.70398989
193Abnormality of the thoracic spine (HP:0100711)1.69971031
194Chest pain (HP:0100749)1.66313216

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K34.99030330
2RIPK44.52010876
3STK38L3.61297408
4STK242.98341840
5MAP4K12.93050684
6PRPF4B2.83448920
7PRKG22.58032129
8ERBB32.52606854
9SIK22.52257482
10ERN12.47853775
11NME12.47383423
12TNK22.32377884
13LATS12.23553226
14FGFR42.23293257
15CDK122.21411667
16SMG12.17685952
17MAP3K132.11408193
18TRPM72.03408163
19PRKD32.03264571
20MST42.00150782
21DDR212.3481581
22MARK21.76184791
23ICK1.58574505
24FES1.55774165
25TRIB31.54443941
26NTRK31.51172567
27TBK11.49015950
28PLK21.44972791
29MAP3K141.43683943
30STK31.41725986
31EEF2K1.36669773
32EPHB21.36270316
33BLK1.34202534
34TYK21.31523369
35MKNK21.30759819
36IRAK41.29645173
37EPHA41.26706785
38MAPK151.21935763
39SIK31.20911935
40SIK11.17749614
41CSF1R1.15156514
42DYRK1A1.13704513
43TYRO31.10716669
44NUAK11.09665167
45PDK11.07012751
46PDPK11.05027285
47FGFR21.05013294
48CDC42BPA1.05010666
49MET1.03897120
50BTK1.02297034
51PIM20.97080315
52DAPK20.97005482
53WNK40.96684885
54SYK0.94731918
55IRAK20.94146271
56BRD40.90126544
57MAP3K70.89782632
58EPHA20.88312674
59MKNK10.87597682
60IKBKE0.86989771
61CAMK1D0.85837665
62RIPK10.85171594
63TAOK10.84307819
64EPHA30.83505054
65GRK60.82837352
66JAK10.82450827
67STK390.82420401
68MAP2K30.81004059
69PKN20.80762563
70SGK4940.79759759
71SGK2230.79759759
72PAK60.77973790
73RPS6KA20.77602259
74FGR0.77527465
75HIPK20.74854341
76MAP3K10.72065025
77MATK0.71308330
78SGK30.70467654
79ARAF0.69624734
80LATS20.68510414
81CSK0.68096051
82DYRK1B0.68083254
83HCK0.66517041
84KIT0.66013732
85KSR20.65539063
86NEK60.65416924
87PKN10.63326212
88ALK0.63121632
89GSK3A0.62957982
90ROCK10.62737207
91FGFR10.62090422
92EPHB10.61927115
93NTRK20.59548556
94MAPK110.59261778
95CDK50.59139538
96ZAP700.56509549
97CAMK1G0.56474892
98FGFR30.56221790
99SGK20.56194932
100JAK20.55496404
101KSR10.55415288
102STK110.55255762
103LYN0.53971438
104MAPK70.53886845
105MAP2K20.53869313
106MAP2K60.52753857
107FER0.52154899
108CDK40.51512426
109PAK30.51506155
110FYN0.51501353
111MAP3K90.49905910
112PTK60.49630420
113NME20.49416219
114PRKCQ0.48905313
115PDK20.48469823
116ITK0.46839728
117CSNK1A1L0.46701364
118MTOR0.46450788
119RPS6KC10.46161438
120RPS6KL10.46161438
121IKBKB0.45488446
122CDK190.45126438
123MARK30.43674752
124CDK60.41988340
125NTRK10.41774734
126EIF2AK30.38736671
127CSNK1G10.38645745
128MAPK120.38072182
129BMPR20.37878239
130MAPK40.37493140
131BMX0.36561049
132PAK40.35958829
133PRKCI0.35676055
134ERBB20.34487308
135PIK3CA0.34383653
136PLK30.34106601
137NLK0.30655340
138TGFBR10.30541525
139LIMK10.30203002
140TGFBR20.28719876
141PTK20.27882752
142PTK2B0.26750954
143LRRK20.26003038
144PDGFRA0.25981297
145BCR0.25387874
146WNK10.24595513
147MAP3K100.23782734
148PAK20.21537792
149ILK0.21126740
150PRKCH0.20878127
151RET0.20596174
152ROCK20.20516722
153PRKCE0.19765596
154PIM10.19130195
155PASK0.19053961
156PDGFRB0.18339133
157PRKD20.17718095
158YES10.17181683
159ABL10.16962130
160UHMK10.15521236
161CSNK1G30.15508647
162MAPK100.14862862
163ERBB40.14693918
164MAP3K110.13929480
165CAMKK10.13698082
166MST1R0.13277898
167MAPK10.12292387
168IGF1R0.11993013
169PRKG10.11851461
170CSNK1G20.10603243
171SGK10.10500745
172TESK10.10466703
173MAPK30.09016497
174PRKCZ0.08817267
175CAMKK20.08096856
176EGFR0.07983302
177TAOK20.07914195

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005326.32300752
2* Protein digestion and absorption_Homo sapiens_hsa049745.83890970
3* ECM-receptor interaction_Homo sapiens_hsa045125.83238041
4TGF-beta signaling pathway_Homo sapiens_hsa043502.60081066
5B cell receptor signaling pathway_Homo sapiens_hsa046622.51802309
6Hippo signaling pathway_Homo sapiens_hsa043902.42921953
7Basal cell carcinoma_Homo sapiens_hsa052172.41182800
8* Focal adhesion_Homo sapiens_hsa045102.37449589
9Other types of O-glycan biosynthesis_Homo sapiens_hsa005142.19828623
10Leishmaniasis_Homo sapiens_hsa051401.99944423
11Allograft rejection_Homo sapiens_hsa053301.82338943
12Staphylococcus aureus infection_Homo sapiens_hsa051501.77768874
13Intestinal immune network for IgA production_Homo sapiens_hsa046721.76555125
14Autoimmune thyroid disease_Homo sapiens_hsa053201.72419191
15Asthma_Homo sapiens_hsa053101.70549970
16Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.69488856
17Sulfur metabolism_Homo sapiens_hsa009201.68482071
18Hedgehog signaling pathway_Homo sapiens_hsa043401.68251163
19Proteoglycans in cancer_Homo sapiens_hsa052051.66920398
20Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.66372058
21* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.66058925
22Sphingolipid metabolism_Homo sapiens_hsa006001.63258900
23Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.57889796
24Wnt signaling pathway_Homo sapiens_hsa043101.57065828
25Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.56855420
26Long-term potentiation_Homo sapiens_hsa047201.54982296
27Graft-versus-host disease_Homo sapiens_hsa053321.54006764
28Type I diabetes mellitus_Homo sapiens_hsa049401.47008566
29Osteoclast differentiation_Homo sapiens_hsa043801.43392943
30Olfactory transduction_Homo sapiens_hsa047401.43348087
31Phosphatidylinositol signaling system_Homo sapiens_hsa040701.39086478
32Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.36738135
33GnRH signaling pathway_Homo sapiens_hsa049121.35919212
34Tuberculosis_Homo sapiens_hsa051521.35794261
35Glycosaminoglycan degradation_Homo sapiens_hsa005311.34782415
36Steroid biosynthesis_Homo sapiens_hsa001001.33199179
37VEGF signaling pathway_Homo sapiens_hsa043701.32827053
38Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.32738470
39Malaria_Homo sapiens_hsa051441.27354851
40Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.26922858
41Non-small cell lung cancer_Homo sapiens_hsa052231.24267234
42Phospholipase D signaling pathway_Homo sapiens_hsa040721.23968656
43Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.22966960
44Acute myeloid leukemia_Homo sapiens_hsa052211.22058854
45Other glycan degradation_Homo sapiens_hsa005111.19756137
46Melanogenesis_Homo sapiens_hsa049161.16214714
47Influenza A_Homo sapiens_hsa051641.16064541
48Primary immunodeficiency_Homo sapiens_hsa053401.15740782
49Starch and sucrose metabolism_Homo sapiens_hsa005001.15581383
50Choline metabolism in cancer_Homo sapiens_hsa052311.11992775
51Toll-like receptor signaling pathway_Homo sapiens_hsa046201.11346185
52Toxoplasmosis_Homo sapiens_hsa051451.10561597
53Synaptic vesicle cycle_Homo sapiens_hsa047211.09058095
54Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.08721241
55Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.07752564
56Antigen processing and presentation_Homo sapiens_hsa046121.02643691
57Gastric acid secretion_Homo sapiens_hsa049711.00944969
58Adherens junction_Homo sapiens_hsa045200.99280885
59Inositol phosphate metabolism_Homo sapiens_hsa005620.99118855
60Bladder cancer_Homo sapiens_hsa052190.98928776
61Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.98468831
62Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.97150557
63Carbohydrate digestion and absorption_Homo sapiens_hsa049730.95309331
64Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.95250409
65Herpes simplex infection_Homo sapiens_hsa051680.94334269
66Ovarian steroidogenesis_Homo sapiens_hsa049130.94073397
67AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.90611988
68T cell receptor signaling pathway_Homo sapiens_hsa046600.90563264
69Protein export_Homo sapiens_hsa030600.89202347
70Lysosome_Homo sapiens_hsa041420.88106179
71NF-kappa B signaling pathway_Homo sapiens_hsa040640.87139365
72Long-term depression_Homo sapiens_hsa047300.86446806
73Lysine degradation_Homo sapiens_hsa003100.85990296
74Dorso-ventral axis formation_Homo sapiens_hsa043200.85142945
75Colorectal cancer_Homo sapiens_hsa052100.84462952
76Axon guidance_Homo sapiens_hsa043600.84462909
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.82042716
78Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.81714370
79Viral myocarditis_Homo sapiens_hsa054160.81431124
80Hepatitis C_Homo sapiens_hsa051600.81158999
81Insulin secretion_Homo sapiens_hsa049110.80785792
82Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.80367343
83MAPK signaling pathway_Homo sapiens_hsa040100.79968393
84Dilated cardiomyopathy_Homo sapiens_hsa054140.79078409
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.78517218
86Leukocyte transendothelial migration_Homo sapiens_hsa046700.76719483
87Glutamatergic synapse_Homo sapiens_hsa047240.75383130
88Endocytosis_Homo sapiens_hsa041440.74591589
89Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.74287503
90Chemokine signaling pathway_Homo sapiens_hsa040620.72955237
91Arginine and proline metabolism_Homo sapiens_hsa003300.71164360
92Prolactin signaling pathway_Homo sapiens_hsa049170.71081201
93cGMP-PKG signaling pathway_Homo sapiens_hsa040220.70496539
94Cholinergic synapse_Homo sapiens_hsa047250.69107504
95Cyanoamino acid metabolism_Homo sapiens_hsa004600.68636160
96Thyroid cancer_Homo sapiens_hsa052160.67774284
97Prostate cancer_Homo sapiens_hsa052150.66636977
98Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.66386810
99Pentose and glucuronate interconversions_Homo sapiens_hsa000400.66177551
100Tight junction_Homo sapiens_hsa045300.65828814
101Vibrio cholerae infection_Homo sapiens_hsa051100.65648791
102Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.65280343
103MicroRNAs in cancer_Homo sapiens_hsa052060.64674939
104Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63426173
105Phenylalanine metabolism_Homo sapiens_hsa003600.63120156
106ABC transporters_Homo sapiens_hsa020100.63059039
107Gap junction_Homo sapiens_hsa045400.62326607
108Renal cell carcinoma_Homo sapiens_hsa052110.62282357
109Notch signaling pathway_Homo sapiens_hsa043300.61658538
110cAMP signaling pathway_Homo sapiens_hsa040240.60027658
111Amoebiasis_Homo sapiens_hsa051460.59054566
112Selenocompound metabolism_Homo sapiens_hsa004500.58920548
113Chronic myeloid leukemia_Homo sapiens_hsa052200.58861539
114Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58170519
115Pertussis_Homo sapiens_hsa051330.57818854
116Thyroid hormone synthesis_Homo sapiens_hsa049180.57604656
117TNF signaling pathway_Homo sapiens_hsa046680.56132525
118Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.55843587
119Dopaminergic synapse_Homo sapiens_hsa047280.55738402
120Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55682659
121Adipocytokine signaling pathway_Homo sapiens_hsa049200.55543713
122Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.55126943
123Pathways in cancer_Homo sapiens_hsa052000.53962010
124Melanoma_Homo sapiens_hsa052180.52627914
125ErbB signaling pathway_Homo sapiens_hsa040120.52610422
126RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.51973261
127Measles_Homo sapiens_hsa051620.51539364
128Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.49309694
129Endometrial cancer_Homo sapiens_hsa052130.48683579
130Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.48563335
131HTLV-I infection_Homo sapiens_hsa051660.48310534
132Small cell lung cancer_Homo sapiens_hsa052220.46817476
133Salivary secretion_Homo sapiens_hsa049700.46566967
134N-Glycan biosynthesis_Homo sapiens_hsa005100.46415162
135Neurotrophin signaling pathway_Homo sapiens_hsa047220.44580300
136Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.43791850
137Glioma_Homo sapiens_hsa052140.42550138
138Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.41911602
139Cocaine addiction_Homo sapiens_hsa050300.40800335
140Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.40532189
141Pancreatic cancer_Homo sapiens_hsa052120.40341971
142Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.39687929
143Central carbon metabolism in cancer_Homo sapiens_hsa052300.38206212
144Rap1 signaling pathway_Homo sapiens_hsa040150.38131607
145Oxytocin signaling pathway_Homo sapiens_hsa049210.38084042
146Estrogen signaling pathway_Homo sapiens_hsa049150.37766491
147Phagosome_Homo sapiens_hsa041450.36093302
148HIF-1 signaling pathway_Homo sapiens_hsa040660.34842382
149Insulin resistance_Homo sapiens_hsa049310.34625847
150Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34462730
151Hepatitis B_Homo sapiens_hsa051610.34299757
152Aldosterone synthesis and secretion_Homo sapiens_hsa049250.34111202
153Circadian entrainment_Homo sapiens_hsa047130.33433736
154Regulation of actin cytoskeleton_Homo sapiens_hsa048100.33094402
155Histidine metabolism_Homo sapiens_hsa003400.32058029
156mTOR signaling pathway_Homo sapiens_hsa041500.31003958
157Amphetamine addiction_Homo sapiens_hsa050310.30307251
158Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.30040720
159Folate biosynthesis_Homo sapiens_hsa007900.29952240
160Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.27623885
161Ras signaling pathway_Homo sapiens_hsa040140.27256367
162Galactose metabolism_Homo sapiens_hsa000520.27131434
163Arachidonic acid metabolism_Homo sapiens_hsa005900.25942802
164Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.22761736

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