MATN3

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 a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1notochord development (GO:0030903)9.15817476
2limb bud formation (GO:0060174)9.03365837
3very-low-density lipoprotein particle assembly (GO:0034379)8.76104241
4negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)8.48355370
5positive regulation of extracellular matrix organization (GO:1903055)8.31643916
6plasma lipoprotein particle assembly (GO:0034377)8.27917166
7negative regulation of fibrinolysis (GO:0051918)7.83647764
8low-density lipoprotein particle remodeling (GO:0034374)7.76316342
9sphingomyelin metabolic process (GO:0006684)7.53538308
10collagen fibril organization (GO:0030199)7.52501876
11protein-lipid complex assembly (GO:0065005)7.33716411
12regulation of apoptotic cell clearance (GO:2000425)6.94564421
13regulation of protein activation cascade (GO:2000257)6.87838368
14regulation of complement activation (GO:0030449)6.82209087
15protein carboxylation (GO:0018214)6.64581841
16peptidyl-glutamic acid carboxylation (GO:0017187)6.64581841
17regulation of fibrinolysis (GO:0051917)6.58364240
18proteoglycan metabolic process (GO:0006029)6.57137509
19intestinal cholesterol absorption (GO:0030299)6.54629009
20cartilage development (GO:0051216)6.50431103
21nucleotide-sugar biosynthetic process (GO:0009226)6.33473248
22embryonic skeletal joint morphogenesis (GO:0060272)6.17145117
23cholesterol efflux (GO:0033344)6.13904880
24regulation of cholesterol esterification (GO:0010872)6.09470425
25protein-lipid complex remodeling (GO:0034368)6.05281374
26macromolecular complex remodeling (GO:0034367)6.05281374
27plasma lipoprotein particle remodeling (GO:0034369)6.05281374
28chondroitin sulfate biosynthetic process (GO:0030206)6.04252419
29replacement ossification (GO:0036075)5.95589881
30endochondral ossification (GO:0001958)5.95589881
31plasma lipoprotein particle organization (GO:0071827)5.90418214
32protein retention in ER lumen (GO:0006621)5.65137548
33cellular glucuronidation (GO:0052695)5.60246871
34chondrocyte differentiation (GO:0002062)5.58501967
35blood coagulation, intrinsic pathway (GO:0007597)5.53473621
36protein-lipid complex subunit organization (GO:0071825)5.53429860
37negative regulation of protein activation cascade (GO:2000258)5.37920197
38positive regulation of chondrocyte differentiation (GO:0032332)5.30311234
39plasma lipoprotein particle clearance (GO:0034381)5.28658485
40endothelial cell morphogenesis (GO:0001886)5.24592681
41maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.22166436
42high-density lipoprotein particle remodeling (GO:0034375)5.17558962
43regulation of extracellular matrix disassembly (GO:0010715)5.12127847
44keratan sulfate biosynthetic process (GO:0018146)5.10254005
45negative regulation of gluconeogenesis (GO:0045721)5.06933916
46collagen catabolic process (GO:0030574)5.06545042
47uronic acid metabolic process (GO:0006063)5.01475970
48glucuronate metabolic process (GO:0019585)5.01475970
49lipopolysaccharide biosynthetic process (GO:0009103)4.98178362
50low-density lipoprotein particle clearance (GO:0034383)4.90744468
51regulation of extracellular matrix organization (GO:1903053)4.84589407
52collagen metabolic process (GO:0032963)4.77210025
53reverse cholesterol transport (GO:0043691)4.75076166
54erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.74406667
55L-phenylalanine catabolic process (GO:0006559)4.74406667
56regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)4.67541994
57iron ion import (GO:0097286)4.67381276
58intestinal absorption (GO:0050892)4.65138930
59triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.64940127
60multicellular organismal catabolic process (GO:0044243)4.63419421
61positive regulation of cartilage development (GO:0061036)4.56636926
62* skeletal system development (GO:0001501)4.56618953
63hypotonic response (GO:0006971)4.56399937
64L-phenylalanine metabolic process (GO:0006558)4.52815010
65erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.52815010
66multicellular organismal macromolecule metabolic process (GO:0044259)4.45333037
67negative regulation of complement activation (GO:0045916)4.44726746
68diacylglycerol metabolic process (GO:0046339)4.37570937
69positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.34974768
70UDP-N-acetylglucosamine metabolic process (GO:0006047)4.34778617
71connective tissue development (GO:0061448)4.33323031
72regulation of cholesterol homeostasis (GO:2000188)4.32185291
73regulation of plasminogen activation (GO:0010755)4.32116655
74detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.30930138
75myelin assembly (GO:0032288)4.27502990
76multicellular organismal metabolic process (GO:0044236)4.25049323
77peptidyl-proline hydroxylation (GO:0019511)4.24590029
78lipopolysaccharide metabolic process (GO:0008653)4.22795981
79response to BMP (GO:0071772)4.18600838
80cellular response to BMP stimulus (GO:0071773)4.18600838
81endocardial cushion morphogenesis (GO:0003203)4.18223349
82glycoprotein metabolic process (GO:0009100)4.17566392
83complement activation, alternative pathway (GO:0006957)4.11995874
84keratan sulfate metabolic process (GO:0042339)4.11499186
85regulation of cholesterol biosynthetic process (GO:0045540)4.03773436
86short-term memory (GO:0007614)4.03636408
87regulation of non-canonical Wnt signaling pathway (GO:2000050)4.03540375
88regulation of bile acid biosynthetic process (GO:0070857)4.01530624
89lipoprotein metabolic process (GO:0042157)3.99647603
90regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.99368127
91negative regulation of cholesterol transport (GO:0032375)3.99367313
92negative regulation of sterol transport (GO:0032372)3.99367313
93response to gravity (GO:0009629)3.89660533
94extracellular matrix disassembly (GO:0022617)3.86800497
95cholesterol transport (GO:0030301)3.83906714
96sterol transport (GO:0015918)3.83906714
97COPII vesicle coating (GO:0048208)3.82459929
98glycosaminoglycan biosynthetic process (GO:0006024)3.79623024
99regulation of type B pancreatic cell apoptotic process (GO:2000674)3.78620509
100response to prostaglandin (GO:0034694)3.75879332
101cell proliferation involved in metanephros development (GO:0072203)3.75676208
102negative regulation of smooth muscle cell differentiation (GO:0051151)3.74331839
103aminoglycan biosynthetic process (GO:0006023)3.74264273
104regulation of humoral immune response (GO:0002920)3.73200088
105nephron epithelium morphogenesis (GO:0072088)3.72484818
106nephron tubule morphogenesis (GO:0072078)3.72484818
107positive regulation of dendritic spine morphogenesis (GO:0061003)3.69160367
108regulation of chondrocyte differentiation (GO:0032330)3.69044788
109positive regulation of hormone biosynthetic process (GO:0046886)3.66987592
110lung epithelium development (GO:0060428)3.64230638
111acute-phase response (GO:0006953)3.59313151
112negative regulation of sodium ion transport (GO:0010766)3.58862207
113nucleotide-sugar metabolic process (GO:0009225)3.58660700
114chondroitin sulfate metabolic process (GO:0030204)3.57059345
115pinocytosis (GO:0006907)3.55176687
116phospholipid efflux (GO:0033700)3.53890673
117regulation of cartilage development (GO:0061035)3.50201937
118positive regulation of blood coagulation (GO:0030194)3.48742128
119positive regulation of hemostasis (GO:1900048)3.48742128
120cholesterol homeostasis (GO:0042632)3.48378941
121cell proliferation involved in kidney development (GO:0072111)3.47205428
122sterol homeostasis (GO:0055092)3.46701588
123negative regulation of norepinephrine secretion (GO:0010700)3.46574633
124negative regulation of chemokine production (GO:0032682)3.41793439
125regulation of norepinephrine secretion (GO:0014061)3.40530833
126positive regulation of steroid metabolic process (GO:0045940)3.39786117
127glycosaminoglycan catabolic process (GO:0006027)3.38383414
128endodermal cell differentiation (GO:0035987)3.37874731
129proline metabolic process (GO:0006560)3.36687329
130protein activation cascade (GO:0072376)3.35894783
131modified amino acid transport (GO:0072337)3.35462886
132proline biosynthetic process (GO:0006561)3.34999426
133positive regulation of macrophage derived foam cell differentiation (GO:0010744)3.34835050
134negative regulation of humoral immune response (GO:0002921)3.34192062
135regulation of response to osmotic stress (GO:0047484)3.33999626
136embryonic retina morphogenesis in camera-type eye (GO:0060059)3.32630132
137sulfur compound catabolic process (GO:0044273)3.31723926
138ossification (GO:0001503)3.30488545
139mesenchyme morphogenesis (GO:0072132)3.28957218
140fibrinolysis (GO:0042730)3.27753756
141artery smooth muscle contraction (GO:0014824)3.25296812
142protein hydroxylation (GO:0018126)3.25035766
143uterus development (GO:0060065)3.22608795
144negative regulation of blood coagulation (GO:0030195)3.21992061
145negative regulation of hemostasis (GO:1900047)3.21992061
146regulation of cell maturation (GO:1903429)3.19446532
147otic vesicle formation (GO:0030916)3.19332814
148aminoglycan catabolic process (GO:0006026)3.19323637
149positive regulation of coagulation (GO:0050820)3.17059819
150proteoglycan biosynthetic process (GO:0030166)3.15978630
151regulation of steroid hormone biosynthetic process (GO:0090030)3.15722878
152chondrocyte proliferation (GO:0035988)3.15126370
153COPI coating of Golgi vesicle (GO:0048205)3.14778366
154Golgi transport vesicle coating (GO:0048200)3.14778366
155neurotransmitter-gated ion channel clustering (GO:0072578)3.12375264
156glutamate metabolic process (GO:0006536)3.11841991
157negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.10476810
158complement activation, classical pathway (GO:0006958)3.10384785
159embryonic viscerocranium morphogenesis (GO:0048703)3.09207899
160positive regulation of phagocytosis (GO:0050766)3.09153077
161hyperosmotic salinity response (GO:0042538)3.08529975
162positive regulation of triglyceride lipase activity (GO:0061365)3.08379931
163positive regulation of lipoprotein lipase activity (GO:0051006)3.08379931
164phosphate ion homeostasis (GO:0055062)3.06716927
165trivalent inorganic anion homeostasis (GO:0072506)3.06716927
166negative regulation of coagulation (GO:0050819)3.03397519
167cellular anion homeostasis (GO:0030002)3.03261294
168acylglycerol catabolic process (GO:0046464)3.03260433
169neutral lipid catabolic process (GO:0046461)3.03260433
170negative regulation of NF-kappaB import into nucleus (GO:0042347)3.02782349
171positive regulation of neurological system process (GO:0031646)3.02704063
172negative regulation of cartilage development (GO:0061037)3.02183756
173positive regulation of hormone metabolic process (GO:0032352)2.99926444
174response to muscle activity (GO:0014850)2.98084484
175cellular response to prostaglandin stimulus (GO:0071379)2.96031497
176* extracellular matrix organization (GO:0030198)2.95880594
177regulation of bone mineralization (GO:0030500)2.95813166
178regulation of cholesterol storage (GO:0010885)2.95802925
179response to follicle-stimulating hormone (GO:0032354)2.95631358
180drinking behavior (GO:0042756)2.95304045
181* extracellular structure organization (GO:0043062)2.95189996
182response to prostaglandin E (GO:0034695)2.94836927
183negative regulation of glycogen biosynthetic process (GO:0045719)2.94727577
184bone development (GO:0060348)2.92394820
185mucopolysaccharide metabolic process (GO:1903510)2.88519972
186regulation of integrin-mediated signaling pathway (GO:2001044)2.88429271
187negative regulation of endothelial cell proliferation (GO:0001937)2.87023589
188positive regulation of male gonad development (GO:2000020)2.86596395
189sphingolipid catabolic process (GO:0030149)2.85213375
190regulation of transforming growth factor beta2 production (GO:0032909)2.82720609
191negative regulation of glycogen metabolic process (GO:0070874)2.81469130
192cartilage development involved in endochondral bone morphogenesis (GO:0060351)14.0784326
193cell aggregation (GO:0098743)12.6772201
194cartilage condensation (GO:0001502)12.6772201
195chondrocyte development (GO:0002063)12.0842482
196keratan sulfate catabolic process (GO:0042340)10.9544419

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human9.25626091
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse8.41390873
3TP63_17297297_ChIP-ChIP_HaCaT_Human5.90942111
4AR_21572438_ChIP-Seq_LNCaP_Human5.62834775
5HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.89315243
6* FOXA2_19822575_ChIP-Seq_HepG2_Human4.80728688
7GATA1_22025678_ChIP-Seq_K562_Human4.38006888
8RXR_22158963_ChIP-Seq_LIVER_Mouse4.33865431
9SMAD_19615063_ChIP-ChIP_OVARY_Human4.04102059
10LXR_22158963_ChIP-Seq_LIVER_Mouse3.85786879
11PPARA_22158963_ChIP-Seq_LIVER_Mouse3.76362702
12CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.68006021
13ESR1_21235772_ChIP-Seq_MCF-7_Human3.30765966
14* HNF4A_19822575_ChIP-Seq_HepG2_Human3.28393605
15HNF4A_19761587_ChIP-ChIP_CACO-2_Human3.11692702
16ZNF263_19887448_ChIP-Seq_K562_Human3.08973527
17AR_21909140_ChIP-Seq_LNCAP_Human2.84099608
18CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.79672365
19NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.75085854
20TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.62788181
21TCF4_18268006_ChIP-ChIP_LS174T_Human2.61514328
22ESR1_15608294_ChIP-ChIP_MCF-7_Human2.61390581
23PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.53385595
24HIF1A_21447827_ChIP-Seq_MCF-7_Human2.52473065
25PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.45725790
26ESR2_21235772_ChIP-Seq_MCF-7_Human2.30334768
27FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.27908684
28FOXO3_23340844_ChIP-Seq_DLD1_Human2.21813395
29THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.20021910
30HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.07903184
31CJUN_26792858_Chip-Seq_BT549_Human2.07234584
32PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.06396394
33ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.04487108
34NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.04415512
35SALL1_21062744_ChIP-ChIP_HESCs_Human2.04395978
36EGR1_23403033_ChIP-Seq_LIVER_Mouse1.97563914
37FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.94981062
38GATA4_25053715_ChIP-Seq_YYC3_Human1.94728428
39SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.89702047
40EZH2_27304074_Chip-Seq_ESCs_Mouse1.88729667
41EED_16625203_ChIP-ChIP_MESCs_Mouse1.86343597
42PCGF2_27294783_Chip-Seq_ESCs_Mouse1.79897688
43SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.78673237
44TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.76633291
45FLI1_27457419_Chip-Seq_LIVER_Mouse1.76184915
46RBPJ_22232070_ChIP-Seq_NCS_Mouse1.70813001
47RXR_22108803_ChIP-Seq_LS180_Human1.64808270
48WT1_19549856_ChIP-ChIP_CCG9911_Human1.64324074
49* RARG_19884340_ChIP-ChIP_MEFs_Mouse1.58987578
50TP53_18474530_ChIP-ChIP_U2OS_Human1.55817454
51ZNF217_24962896_ChIP-Seq_MCF-7_Human1.53804668
52TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.52965646
53POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.52965646
54CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.51534844
55RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.51338069
56ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49528301
57CTNNB1_20460455_ChIP-Seq_HCT116_Human1.49313026
58TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.48250993
59POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.46861732
60ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.45943778
61JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.43874119
62GATA6_25053715_ChIP-Seq_YYC3_Human1.43838299
63CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.43375358
64NRF2_20460467_ChIP-Seq_MEFs_Mouse1.42121730
65NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.42121730
66SOX2_27498859_Chip-Seq_STOMACH_Mouse1.38217416
67VDR_24787735_ChIP-Seq_THP-1_Human1.38101175
68EGR1_19032775_ChIP-ChIP_M12_Human1.37696420
69ELK1_22589737_ChIP-Seq_MCF10A_Human1.36338919
70SUZ12_27294783_Chip-Seq_NPCs_Mouse1.33402859
71SOX2_20726797_ChIP-Seq_SW620_Human1.32255924
72PPAR_26484153_Chip-Seq_NCI-H1993_Human1.31923656
73SMAD3_21741376_ChIP-Seq_EPCs_Human1.29512662
74EZH2_27294783_Chip-Seq_NPCs_Mouse1.29023257
75NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.28878551
76FOXM1_26456572_ChIP-Seq_MCF-7_Human1.27786252
77GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.26841639
78ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.26819809
79GATA3_24758297_ChIP-Seq_MCF-7_Human1.26446039
80NFE2_27457419_Chip-Seq_LIVER_Mouse1.24356252
81TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23030333
82NANOG_21062744_ChIP-ChIP_HESCs_Human1.22620457
83JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.21968095
84NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.21898904
85SALL4_18804426_ChIP-ChIP_XEN_Mouse1.21850962
86SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.21763817
87SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.21026970
88SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.20304517
89SOX17_20123909_ChIP-Seq_XEN_Mouse1.20286766
90SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.19943396
91TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.19855939
92CLOCK_20551151_ChIP-Seq_293T_Human1.19567900
93FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.18284692
94GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.16678093
95RNF2_18974828_ChIP-Seq_MESCs_Mouse1.15994890
96EZH2_18974828_ChIP-Seq_MESCs_Mouse1.15994890
97JARID2_20064375_ChIP-Seq_MESCs_Mouse1.15297455
98BRD4_25478319_ChIP-Seq_HGPS_Human1.15167884
99* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.14610003
100UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.13842542
101EOMES_21245162_ChIP-Seq_HESCs_Human1.13813089
102SA1_22415368_ChIP-Seq_MEFs_Mouse1.13687761
103TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.12993897
104PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.12563250
105ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.12502827
106TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.10264363
107SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.08973123
108WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.08164164
109JARID2_20075857_ChIP-Seq_MESCs_Mouse1.06496185
110SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.05479751
111CTBP2_25329375_ChIP-Seq_LNCAP_Human1.05464295
112SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.04926867
113SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.04926867
114PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.04613486
115CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.04228949
116EP300_21415370_ChIP-Seq_HL-1_Mouse1.03442237
117SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.02523545
118SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01188605
119SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01010247
120NANOG_18555785_Chip-Seq_ESCs_Mouse1.00351344
121POU5F1_16518401_ChIP-PET_MESCs_Mouse0.99330276
122ELF5_23300383_ChIP-Seq_T47D_Human0.99214264
123KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.96531986
124SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.96467768
125TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.96206555
126KLF5_20875108_ChIP-Seq_MESCs_Mouse0.95511237
127BMI1_23680149_ChIP-Seq_NPCS_Mouse0.94952201
128OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94675678
129EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.94158124
130MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.93666054
131P53_22387025_ChIP-Seq_ESCs_Mouse0.93154874
132TCF4_22108803_ChIP-Seq_LS180_Human0.92424869
133RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.92077302
134NFIB_24661679_ChIP-Seq_LUNG_Mouse0.91441037
135PIAS1_25552417_ChIP-Seq_VCAP_Human0.91314902
136PCGF2_27294783_Chip-Seq_NPCs_Mouse0.90568847
137NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90430341
138NR3C1_23031785_ChIP-Seq_PC12_Mouse0.90248582
139TP53_16413492_ChIP-PET_HCT116_Human0.89190217
140CRX_20693478_ChIP-Seq_RETINA_Mouse0.88466121
141STAT3_18555785_Chip-Seq_ESCs_Mouse0.88166947
142PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88004287
143TP53_22127205_ChIP-Seq_IMR90_Human0.87465442
144TP53_20018659_ChIP-ChIP_R1E_Mouse0.86237193
145ESR1_20079471_ChIP-ChIP_T-47D_Human0.84462877
146SMC1_22415368_ChIP-Seq_MEFs_Mouse0.83469282
147CDX2_20551321_ChIP-Seq_CACO-2_Human0.82293758
148TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.82048572
149SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.81706426
150NOTCH1_21737748_ChIP-Seq_TLL_Human0.81620350
151SMAD3_21741376_ChIP-Seq_HESCs_Human0.80817453
152TBX20_22328084_ChIP-Seq_HEART_Mouse0.80693893
153TBX20_22080862_ChIP-Seq_HEART_Mouse0.80693893
154DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.80632215
155* CTCF_21964334_Chip-Seq_Bcells_Human0.80119132
156FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.80097476
157SMC3_22415368_ChIP-Seq_MEFs_Mouse0.79453227
158CDX2_19796622_ChIP-Seq_MESCs_Mouse0.79405382
159GF1B_26923725_Chip-Seq_HPCs_Mouse0.79125285
160SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.75659050
161STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.74813344
162FOXA1_25552417_ChIP-Seq_VCAP_Human0.74582702
163STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.73672639
164SMAD1_18555785_Chip-Seq_ESCs_Mouse0.73453883
165ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.72512881
166ZFX_18555785_ChIP-Seq_MESCs_Mouse0.71595412
167SOX9_24532713_ChIP-Seq_HFSC_Mouse0.69903982
168KAP1_22055183_ChIP-Seq_ESCs_Mouse0.67600781
169PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.67515002
170EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.66492696
171RARA_24833708_ChIP-Seq_LIVER_Mouse0.65775348
172SOX11_22085726_ChIP-Seq_ESNs_Mouse0.64668522
173ZFX_18555785_Chip-Seq_ESCs_Mouse0.63560477
174DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.63069056
175ATF3_27146783_Chip-Seq_COLON_Human0.62727510
176ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.61491676

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004134_abnormal_chest_morphology6.23218024
2MP0002282_abnormal_trachea_morphology5.88871905
3MP0003646_muscle_fatigue4.76505723
4* MP0002933_joint_inflammation4.76142902
5MP0005503_abnormal_tendon_morphology4.49129567
6MP0009250_abnormal_appendicular_skeleto4.28509261
7* MP0000163_abnormal_cartilage_morphology4.12303629
8MP0005360_urolithiasis3.71426549
9MP0005365_abnormal_bile_salt3.61564094
10MP0003123_paternal_imprinting3.52410428
11MP0009780_abnormal_chondrocyte_physiolo3.47498889
12MP0006054_spinal_hemorrhage3.43191370
13MP0001666_abnormal_nutrient_absorption3.36856655
14* MP0002115_abnormal_skeleton_extremities3.34861332
15MP0010329_abnormal_lipoprotein_level3.09746599
16MP0002089_abnormal_postnatal_growth/wei2.89456736
17MP0005085_abnormal_gallbladder_physiolo2.84114879
18* MP0002113_abnormal_skeleton_development2.80528745
19MP0002896_abnormal_bone_mineralization2.77106397
20MP0000762_abnormal_tongue_morphology2.76129162
21MP0002909_abnormal_adrenal_gland2.66638399
22MP0001299_abnormal_eye_distance/2.49027818
23MP0001533_abnormal_skeleton_physiology2.46271391
24MP0001270_distended_abdomen2.45728063
25MP0005390_skeleton_phenotype2.40752657
26MP0001915_intracranial_hemorrhage2.39115156
27MP0003787_abnormal_imprinting2.38809891
28MP0005508_abnormal_skeleton_morphology2.38230352
29MP0005408_hypopigmentation2.38194458
30MP0002163_abnormal_gland_morphology2.32293825
31MP0008875_abnormal_xenobiotic_pharmacok2.19635997
32MP0003656_abnormal_erythrocyte_physiolo2.17467193
33MP0003283_abnormal_digestive_organ2.12214459
34* MP0002109_abnormal_limb_morphology2.10774819
35MP0003252_abnormal_bile_duct2.04774206
36MP0005058_abnormal_lysosome_morphology1.98628128
37MP0003950_abnormal_plasma_membrane1.98321847
38MP0001542_abnormal_bone_strength1.95265434
39MP0009384_cardiac_valve_regurgitation1.92012202
40MP0002132_abnormal_respiratory_system1.90413493
41MP0003890_abnormal_embryonic-extraembry1.87397245
42MP0000751_myopathy1.85949994
43MP0003172_abnormal_lysosome_physiology1.83732678
44MP0010368_abnormal_lymphatic_system1.81990678
45MP0003755_abnormal_palate_morphology1.76406302
46* MP0003795_abnormal_bone_structure1.75736020
47MP0005257_abnormal_intraocular_pressure1.69457292
48MP0002116_abnormal_craniofacial_bone1.69266155
49MP0005409_darkened_coat_color1.64647063
50MP0003315_abnormal_perineum_morphology1.60844543
51MP0000049_abnormal_middle_ear1.56940445
52MP0003567_abnormal_fetal_cardiomyocyte1.56485219
53MP0005451_abnormal_body_composition1.52378676
54MP0002938_white_spotting1.48407944
55MP0008004_abnormal_stomach_pH1.46368382
56MP0000432_abnormal_head_morphology1.37536386
57MP0000609_abnormal_liver_physiology1.37398469
58MP0004264_abnormal_extraembryonic_tissu1.35152807
59MP0003436_decreased_susceptibility_to1.34394218
60MP0001663_abnormal_digestive_system1.31850132
61MP0002108_abnormal_muscle_morphology1.29766844
62MP0003121_genomic_imprinting1.28044715
63MP0005381_digestive/alimentary_phenotyp1.25216711
64MP0009697_abnormal_copulation1.23116662
65MP0001661_extended_life_span1.22903863
66MP0008438_abnormal_cutaneous_collagen1.22273885
67MP0005167_abnormal_blood-brain_barrier1.21984110
68MP0002111_abnormal_tail_morphology1.20983437
69MP0004272_abnormal_basement_membrane1.20839135
70MP0002118_abnormal_lipid_homeostasis1.17519585
71MP0002114_abnormal_axial_skeleton1.17422819
72MP0002233_abnormal_nose_morphology1.17244208
73MP0005332_abnormal_amino_acid1.17082574
74MP0000343_altered_response_to1.14947585
75MP0002249_abnormal_larynx_morphology1.14828600
76MP0003935_abnormal_craniofacial_develop1.12624869
77MP0005379_endocrine/exocrine_gland_phen1.12392464
78MP0003943_abnormal_hepatobiliary_system1.11211106
79MP0000639_abnormal_adrenal_gland1.11079931
80MP0004197_abnormal_fetal_growth/weight/1.09992643
81MP0002998_abnormal_bone_remodeling1.08675455
82MP0005084_abnormal_gallbladder_morpholo1.07669591
83MP0005275_abnormal_skin_tensile1.07565383
84MP0003937_abnormal_limbs/digits/tail_de1.05746840
85MP0003183_abnormal_peptide_metabolism1.04104774
86MP0003806_abnormal_nucleotide_metabolis1.01649538
87MP0003566_abnormal_cell_adhesion0.98845189
88MP0003115_abnormal_respiratory_system0.96875463
89MP0004484_altered_response_of0.95772790
90MP0000598_abnormal_liver_morphology0.95375579
91MP0005023_abnormal_wound_healing0.95217211
92MP0005410_abnormal_fertilization0.90516433
93MP0003122_maternal_imprinting0.88590555
94MP0004084_abnormal_cardiac_muscle0.88390594
95MP0003136_yellow_coat_color0.88290594
96MP0002092_abnormal_eye_morphology0.87755801
97MP0003279_aneurysm0.85656156
98MP0000003_abnormal_adipose_tissue0.85413890
99MP0005464_abnormal_platelet_physiology0.84940081
100MP0005636_abnormal_mineral_homeostasis0.83780723
101MP0001963_abnormal_hearing_physiology0.83679521
102MP0002139_abnormal_hepatobiliary_system0.83228234
103MP0005164_abnormal_response_to0.83126046
104MP0003385_abnormal_body_wall0.82875146
105MP0001324_abnormal_eye_pigmentation0.82048693
106MP0003091_abnormal_cell_migration0.79398960
107MP0003195_calcinosis0.79245811
108MP0009840_abnormal_foam_cell0.78507091
109MP0002086_abnormal_extraembryonic_tissu0.78326459
110MP0000465_gastrointestinal_hemorrhage0.77432083
111MP0000767_abnormal_smooth_muscle0.77384015
112MP0001293_anophthalmia0.76219357
113MP0003705_abnormal_hypodermis_morpholog0.75357481
114MP0010030_abnormal_orbit_morphology0.74868580
115MP0002877_abnormal_melanocyte_morpholog0.74191141
116MP0002932_abnormal_joint_morphology0.72756329
117MP0002697_abnormal_eye_size0.72727367
118MP0001730_embryonic_growth_arrest0.71829646
119MP0003942_abnormal_urinary_system0.70947583
120MP0003632_abnormal_nervous_system0.70455087
121MP0005220_abnormal_exocrine_pancreas0.69634546
122MP0000604_amyloidosis0.69633815
123MP0002735_abnormal_chemical_nociception0.66810142
124MP0001873_stomach_inflammation0.63976675
125MP0002160_abnormal_reproductive_system0.63221970
126MP0001943_abnormal_respiration0.63209884
127MP0001672_abnormal_embryogenesis/_devel0.62429111
128MP0005380_embryogenesis_phenotype0.62429111
129MP0003984_embryonic_growth_retardation0.62427582
130MP0000920_abnormal_myelination0.62054745
131MP0001286_abnormal_eye_development0.61433896
132MP0009642_abnormal_blood_homeostasis0.60904741
133MP0001697_abnormal_embryo_size0.60661646
134MP0002088_abnormal_embryonic_growth/wei0.60231783
135MP0004019_abnormal_vitamin_homeostasis0.58394182
136MP0002128_abnormal_blood_circulation0.58384194
137MP0000462_abnormal_digestive_system0.56850371
138MP0008260_abnormal_autophagy0.55622838
139MP0003119_abnormal_digestive_system0.54798069
140MP0000534_abnormal_ureter_morphology0.53592517
141MP0005377_hearing/vestibular/ear_phenot0.51828144
142MP0003878_abnormal_ear_physiology0.51828144
143MP0010630_abnormal_cardiac_muscle0.50862519
144MP0002925_abnormal_cardiovascular_devel0.48578455
145MP0005670_abnormal_white_adipose0.48544543
146MP0006292_abnormal_olfactory_placode0.47823315
147MP0005319_abnormal_enzyme/_coenzyme0.47064399
148MP0005166_decreased_susceptibility_to0.46795201
149MP0009115_abnormal_fat_cell0.46689521
150MP0005646_abnormal_pituitary_gland0.46144965
151MP0005076_abnormal_cell_differentiation0.45885300
152MP0001177_atelectasis0.45399620
153MP0002234_abnormal_pharynx_morphology0.41101488
154MP0001958_emphysema0.38988604
155MP0001243_abnormal_dermal_layer0.37848007
156MP0004036_abnormal_muscle_relaxation0.36376936
157MP0000428_abnormal_craniofacial_morphol0.36209865
158MP0005248_abnormal_Harderian_gland0.36042253
159MP0000026_abnormal_inner_ear0.35832510
160MP0000566_synostosis0.32684864
161MP0003941_abnormal_skin_development0.32585515
162MP0008775_abnormal_heart_ventricle0.32070632
163MP0000230_abnormal_systemic_arterial0.30226050
164MP0003868_abnormal_feces_composition0.28510220
165MP0000749_muscle_degeneration0.28396185
166MP0000427_abnormal_hair_cycle0.27753299
167MP0005623_abnormal_meninges_morphology0.27610868
168MP0005367_renal/urinary_system_phenotyp0.26591292
169MP0000516_abnormal_urinary_system0.26591292
170MP0003448_altered_tumor_morphology0.26088946

Predicted human phenotypes

RankGene SetZ-score
1* Epiphyseal dysplasia (HP:0002656)9.77609386
2* Irregular epiphyses (HP:0010582)9.12279740
3Vitreoretinal degeneration (HP:0000655)8.81975895
4Hypoplastic ischia (HP:0003175)7.26790691
5Prolonged partial thromboplastin time (HP:0003645)7.12507087
6Abnormality of the ischium (HP:0003174)6.43229835
7Flat capital femoral epiphysis (HP:0003370)6.25516611
8Delayed epiphyseal ossification (HP:0002663)5.87045306
9Hypobetalipoproteinemia (HP:0003563)5.83324675
10Abnormality of the common coagulation pathway (HP:0010990)5.56369085
11Complement deficiency (HP:0004431)5.42097199
12* Cupped ribs (HP:0000887)5.41213481
13Metaphyseal cupping (HP:0003021)5.33594956
14Joint hemorrhage (HP:0005261)5.25861240
15* Genu varum (HP:0002970)5.10471384
16Abnormality of the vertebral endplates (HP:0005106)4.92328391
17Arthropathy (HP:0003040)4.91214232
18Metaphyseal dysplasia (HP:0100255)4.81049870
19Flattened epiphyses (HP:0003071)4.78160555
20Neonatal short-limb short stature (HP:0008921)4.66220796
21Acanthocytosis (HP:0001927)4.65645096
22Glomerulonephritis (HP:0000099)4.60127688
23* Abnormal tarsal ossification (HP:0008369)4.59427390
24* Abnormality involving the epiphyses of the lower limbs (HP:0006500)4.50478268
25* Abnormality of femoral epiphyses (HP:0006499)4.50478268
26Mild short stature (HP:0003502)4.47667256
27* Small epiphyses (HP:0010585)4.47480715
28Hypercholesterolemia (HP:0003124)4.34943598
29Broad alveolar ridges (HP:0000187)4.30193603
30Irregular vertebral endplates (HP:0003301)4.26890380
31Pancreatic islet-cell hyperplasia (HP:0004510)3.99270703
32* Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.99103378
33Broad palm (HP:0001169)3.95504737
34Menorrhagia (HP:0000132)3.92797409
35Spontaneous abortion (HP:0005268)3.92786025
36* Flat acetabular roof (HP:0003180)3.92656503
37Xanthomatosis (HP:0000991)3.90779215
38* Abnormality of the epiphysis of the femoral head (HP:0010574)3.90048795
39Abnormality of complement system (HP:0005339)3.85301889
40* Osteoarthritis (HP:0002758)3.77213709
41Hypolipoproteinemia (HP:0010981)3.66183263
42Protuberant abdomen (HP:0001538)3.66177671
43Epidermoid cyst (HP:0200040)3.59119056
44* Abnormality of the femoral head (HP:0003368)3.58297479
45Abnormality of aromatic amino acid family metabolism (HP:0004338)3.55728010
46Hepatoblastoma (HP:0002884)3.52087536
47Enlarged epiphyses (HP:0010580)3.48564581
48Abnormal vertebral ossification (HP:0100569)3.44857596
49Abnormality of the proximal phalanges of the hand (HP:0009834)3.39412389
50Hemorrhage of the eye (HP:0011885)3.35890154
51Abnormality of the phalanges of the 2nd finger (HP:0009541)3.33922820
52Abnormality of the nasal septum (HP:0000419)3.28524117
53Vascular calcification (HP:0004934)3.27473113
54* Abnormal foot bone ossification (HP:0010675)3.27173783
55Vaginal fistula (HP:0004320)3.26150305
56Barrel-shaped chest (HP:0001552)3.22265400
57* Short femoral neck (HP:0100864)3.22067336
58Beaking of vertebral bodies (HP:0004568)3.20800010
59Flared iliac wings (HP:0002869)3.19851585
60Thoracolumbar scoliosis (HP:0002944)3.19007429
61Abnormality of incisor morphology (HP:0011063)3.18175094
62Absent frontal sinuses (HP:0002688)3.15873325
63Diastasis recti (HP:0001540)3.08690326
64Cervical subluxation (HP:0003308)3.08464014
65Stillbirth (HP:0003826)3.05255120
66Vertebral clefting (HP:0008428)3.05225249
67* Platyspondyly (HP:0000926)3.01630799
68Carpal bone hypoplasia (HP:0001498)3.01325245
69Asymmetry of the thorax (HP:0001555)2.99724936
70Systemic lupus erythematosus (HP:0002725)2.98698013
71Thin ribs (HP:0000883)2.97384380
72* Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.96789109
73* Metaphyseal irregularity (HP:0003025)2.93547346
74* Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.91085396
75* Absent epiphyses (HP:0010577)2.91085396
76Limited hip movement (HP:0008800)2.89644240
77Cardiovascular calcification (HP:0011915)2.87307289
78Increased serum pyruvate (HP:0003542)2.86397486
79Purpura (HP:0000979)2.80400634
80Exostoses (HP:0100777)2.76848335
81* Waddling gait (HP:0002515)2.76466083
82* Coxa vara (HP:0002812)2.75102688
83Long clavicles (HP:0000890)2.74405621
84Fibular hypoplasia (HP:0003038)2.73259884
85Glossoptosis (HP:0000162)2.70462013
86Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.68637201
87Abnormality of the vitreous humor (HP:0004327)2.68010456
88Gingival bleeding (HP:0000225)2.67122899
89Hip contracture (HP:0003273)2.66371416
90Hypophosphatemic rickets (HP:0004912)2.65857474
91Supernumerary spleens (HP:0009799)2.64792675
92Abnormality of glycolysis (HP:0004366)2.63097702
93Hypoplasia of the odontoid process (HP:0003311)2.62887876
94Spinal cord compression (HP:0002176)2.59631524
95Wide nose (HP:0000445)2.59494759
96Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.58016248
97Vertebral hypoplasia (HP:0008417)2.58016248
98Abnormality of the lumbar spine (HP:0100712)2.55312477
99Renal duplication (HP:0000075)2.53661552
100Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.52807084
101Alacrima (HP:0000522)2.50218176
102Hypoplastic pelvis (HP:0008839)2.49023992
103Protrusio acetabuli (HP:0003179)2.48477631
104Skin nodule (HP:0200036)2.46902918
105Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.44305752
106Rectovaginal fistula (HP:0000143)2.41834644
107Rectal fistula (HP:0100590)2.41834644
108Mitral stenosis (HP:0001718)2.41307638
109Abnormality of endocrine pancreas physiology (HP:0012093)2.41228827
110Abnormality of the pancreatic islet cells (HP:0006476)2.41228827
111Hypoplastic ilia (HP:0000946)2.39305549
112Mesomelia (HP:0003027)2.37208047
113Abnormality of the 2nd finger (HP:0004100)2.33461531
114Myocardial infarction (HP:0001658)2.33394923
115* Abnormality of the wing of the ilium (HP:0011867)2.29130148
116Enlarged kidneys (HP:0000105)2.28457208
117Disproportionate short-trunk short stature (HP:0003521)2.28347453
118Short middle phalanx of finger (HP:0005819)2.27168717
119Hypoglycemic coma (HP:0001325)2.26576307
120Hepatocellular carcinoma (HP:0001402)2.26310031
121Thrombophlebitis (HP:0004418)2.25033131
122* Aplasia/hypoplasia of the femur (HP:0005613)2.24994902
123Broad phalanx (HP:0006009)2.24535564
124Abnormality of the alveolar ridges (HP:0006477)2.22974277
125Facial shape deformation (HP:0011334)2.22519372
126Potter facies (HP:0002009)2.22519372
127Abnormality of the phalanges of the 5th finger (HP:0004213)2.20055510
128Intestinal fistula (HP:0100819)2.19848665
129Nephritis (HP:0000123)2.19736772
130Relative macrocephaly (HP:0004482)2.18113613
131Abnormality of the odontoid process (HP:0003310)2.17309440
132Radial bowing (HP:0002986)2.16906230
133* Micromelia (HP:0002983)2.14591001
134Fat malabsorption (HP:0002630)2.14407045
135Abnormality of the lacrimal duct (HP:0011481)2.14143125
136Peritonitis (HP:0002586)2.13846664
137Aplasia/Hypoplasia involving the vertebral column (HP:0008518)2.13843553
138Nephroblastoma (Wilms tumor) (HP:0002667)2.12833509
139* Ovoid vertebral bodies (HP:0003300)2.11375183
140Abnormality of the intrinsic pathway (HP:0010989)2.11287791
141* Lumbar hyperlordosis (HP:0002938)2.10918378
142* Limited elbow extension (HP:0001377)2.10562107
143* Abnormality of the pubic bones (HP:0003172)2.10418602
144Abnormality of pain sensation (HP:0010832)2.10362966
145Impaired pain sensation (HP:0007328)2.10362966
146Poikilocytosis (HP:0004447)2.10162583
147Patent foramen ovale (HP:0001655)2.09515841
148Conjugated hyperbilirubinemia (HP:0002908)2.09335883
149Ulnar bowing (HP:0003031)2.09186746
150Abnormality of the frontal sinuses (HP:0002687)2.09078978
151Broad long bones (HP:0005622)2.08444252
152* Abnormality of carpal bone ossification (HP:0006257)2.07241770
153Scanning speech (HP:0002168)2.06320903
154Hypoalphalipoproteinemia (HP:0003233)2.05691944
155Intrahepatic cholestasis (HP:0001406)2.05684427
156Anal stenosis (HP:0002025)2.03636937
157* Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.02474921
158Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.02220225
159Mixed hearing impairment (HP:0000410)2.01727549
160Delayed closure of the anterior fontanelle (HP:0001476)2.00796071
161Embryonal renal neoplasm (HP:0011794)2.00375004
162Flared metaphyses (HP:0003015)2.00156416
163Deep venous thrombosis (HP:0002625)10.4976387
164* Abnormal hand bone ossification (HP:0010660)1.99947717
165Short ribs (HP:0000773)1.98926164
166* Abnormal ossification of hand bones (HP:0005921)1.98719211
167Neonatal death (HP:0003811)1.98310447
168Rhizomelia (HP:0008905)1.97325585
169Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.95046476
170Aplasia/Hypoplasia of the scapulae (HP:0006713)1.95019691
171Hypoplastic scapulae (HP:0000882)1.95019691
172Abnormality of proline metabolism (HP:0010907)1.91868751
173Hydroxyprolinuria (HP:0003080)1.91868751
174Arterial tortuosity (HP:0005116)1.91644056
175Joint stiffness (HP:0001387)1.89762416
176Midline defect of the nose (HP:0004122)1.89438758
177Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.89436401
178Abnormality of the peritoneum (HP:0002585)1.89259032
179Preauricular pit (HP:0004467)1.88896953
180Periauricular skin pits (HP:0100277)1.88896953
181Decreased lacrimation (HP:0000633)1.88036023
182Coxa valga (HP:0002673)1.87847378
183Abnormality of monocarboxylic acid metabolism (HP:0010996)1.87641315
184Severe Myopia (HP:0011003)1.87394856
185Papillary thyroid carcinoma (HP:0002895)1.83308515
186Supernumerary ribs (HP:0005815)1.80387104
187Gonadal dysgenesis (HP:0000133)1.78689708
188Pigmentary retinal degeneration (HP:0001146)1.77909201
189Abnormality of the nasolacrimal system (HP:0000614)1.77193320
190Osteomalacia (HP:0002749)1.76713799
191Rickets (HP:0002748)1.76004463
192Malignant hyperthermia (HP:0002047)1.75298886
193Recurrent corneal erosions (HP:0000495)1.74475244
19411 pairs of ribs (HP:0000878)1.74004177
195Abnormal delivery (HP:0001787)1.73339389

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR27.25170974
2MAP3K36.92861157
3FGFR46.38487640
4STK38L5.41394672
5STK245.18703265
6NME14.92742249
7PRKG24.07605501
8ICK3.44323726
9TYRO33.38190574
10CDK123.02195098
11MST42.99546903
12ERBB32.69118899
13PDGFRA2.56893667
14FGFR22.51646379
15AKT32.38412036
16PKN22.00822608
17WNK11.99529017
18PLK21.94347871
19RIPK11.83293721
20TGFBR21.81255450
21STK31.72615558
22LATS11.70333755
23NUAK11.54799955
24SIK21.54014803
25TAOK11.48699518
26RET1.48690167
27PRKD31.44374613
28DYRK1A1.44165107
29TRPM71.43513122
30MKNK21.35616914
31EEF2K1.35229279
32EIF2AK31.31653910
33NEK11.31527420
34PIM21.22199892
35CAMKK21.20954152
36FGR1.19684280
37PRKAA21.17585847
38NME21.16546537
39MAPKAPK31.08682170
40CDK71.07741812
41MAPK121.06540393
42SIK11.05188353
43NEK61.05079016
44NEK21.04369638
45MAPK71.00980467
46EPHA21.00467448
47PDK20.98669365
48NEK90.97394107
49DYRK1B0.95944604
50ROCK10.91642281
51PDPK10.91451227
52ERN10.91174205
53MUSK0.90625590
54BRSK10.90391385
55ERBB20.87825043
56SGK2230.87210583
57SGK4940.87210583
58EIF2AK10.87059755
59MAP3K20.86602562
60CSNK1E0.82655751
61BCR0.82011634
62MAPK110.81775022
63MKNK10.80740425
64PIK3CA0.79971176
65FLT30.79696508
66MAP2K30.74927027
67CDC42BPA0.73358502
68GSK3A0.73056954
69MAPK40.71880440
70TAOK20.70514066
71MET0.67203529
72MATK0.60816000
73CDK80.60155277
74IRAK30.57868893
75LIMK10.56252961
76MAP3K110.54663890
77WNK40.53903444
78PLK30.53879406
79PBK0.53850614
80YES10.53106289
81NTRK20.49975741
82SGK20.47131850
83MAP3K90.46914948
84PDGFRB0.44051494
85PIM10.43478543
86PRKG10.42679892
87MAP2K60.42176820
88KSR10.41507762
89KSR20.41333792
90SRPK10.40465008
91PRKAA10.39034067
92SIK30.38625638
93EPHB20.38267274
94TYK20.37875097
95PRKACG0.37848003
96EPHA40.37048985
97CAMKK10.36676787
98PTK60.35585567
99NLK0.35356574
100CSNK1D0.35330162
101MTOR0.35002375
102SRC0.35000947
103ALK0.34723845
104STK390.34324077
105CSNK2A20.33795528
106CDK60.33539653
107NTRK30.32387730
108CAMK1D0.31876196
109MAP3K70.31562233
110FGFR30.30640300
111BRSK20.30365298
112TRIB30.30287820
113MARK30.29743643
114TESK10.29638088
115CSNK2A10.29121543
116NTRK10.28518857
117CDK40.28087160
118RPS6KB10.27790889
119EIF2AK20.27695234
120PRKCD0.26342323
121MAPKAPK20.26113567
122MAP3K50.25381312
123PTK2B0.25209255
124MST1R0.23877755
125CDK10.23329896
126BMPR20.23257558
127ATM0.22978519
128SGK10.22963243
129CAMK1G0.21833905
130MAPK100.21746725
131MELK0.21680689
132ABL10.21448677
133CSNK1A1L0.21329905
134TGFBR10.20568812
135CSF1R0.20255249
136MAPKAPK50.20211418
137PAK40.19829332
138MAPK30.18576351
139CDK90.18074660
140IGF1R0.16868559
141PRKACA0.16322097
142PRKCI0.16176251
143BRD40.16035872
144PRKCH0.14959613
145MAPK10.14702978
146FGFR10.14348805
147TEC0.14298556
148IKBKB0.14004725
149GRK50.13096281
150CAMK2D0.12451089
151PRKCA0.10700376
152CSNK1G10.09921668
153ADRBK10.09642928
154ERBB40.09054775
155SGK30.07998368
156PTK20.07533709
157PINK10.07246910
158AKT10.07075998
159STK100.06996618
160LATS20.05847396
161MAPK140.05733472
162PDK10.05584870
163PRKCE0.05541042
164INSR0.04764135
165CSK0.04112350

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005327.86710910
2ECM-receptor interaction_Homo sapiens_hsa045126.24744257
3Protein digestion and absorption_Homo sapiens_hsa049746.01052190
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.66948042
5Fatty acid biosynthesis_Homo sapiens_hsa000613.30915909
6Fat digestion and absorption_Homo sapiens_hsa049753.11136585
7Sphingolipid metabolism_Homo sapiens_hsa006003.09928021
8Steroid biosynthesis_Homo sapiens_hsa001002.93300096
9Sulfur metabolism_Homo sapiens_hsa009202.89000163
10Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.83721406
11Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.51769102
12Fatty acid metabolism_Homo sapiens_hsa012122.37648692
13Fatty acid degradation_Homo sapiens_hsa000712.21197616
14PPAR signaling pathway_Homo sapiens_hsa033202.19077993
15Focal adhesion_Homo sapiens_hsa045102.17112857
16Olfactory transduction_Homo sapiens_hsa047402.03696064
17Arginine biosynthesis_Homo sapiens_hsa002201.98511904
18Protein export_Homo sapiens_hsa030601.96022956
19Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.89536826
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.81723471
21Glycosaminoglycan degradation_Homo sapiens_hsa005311.78849956
22Starch and sucrose metabolism_Homo sapiens_hsa005001.76544255
23Pentose and glucuronate interconversions_Homo sapiens_hsa000401.73538630
24Staphylococcus aureus infection_Homo sapiens_hsa051501.73363420
25Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.72937922
26PI3K-Akt signaling pathway_Homo sapiens_hsa041511.71658581
27Histidine metabolism_Homo sapiens_hsa003401.70614570
28Malaria_Homo sapiens_hsa051441.66247311
29TGF-beta signaling pathway_Homo sapiens_hsa043501.64330848
30Maturity onset diabetes of the young_Homo sapiens_hsa049501.59476020
31Other glycan degradation_Homo sapiens_hsa005111.56180447
32Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.54662069
33Phenylalanine metabolism_Homo sapiens_hsa003601.53858823
34ABC transporters_Homo sapiens_hsa020101.35140692
35Propanoate metabolism_Homo sapiens_hsa006401.34749185
36Cyanoamino acid metabolism_Homo sapiens_hsa004601.27560449
37Vitamin B6 metabolism_Homo sapiens_hsa007501.26831965
38Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.26369508
39Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.18701215
40Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.17165317
41Selenocompound metabolism_Homo sapiens_hsa004501.16926227
42Renin-angiotensin system_Homo sapiens_hsa046141.16897686
43Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.14481646
44Arginine and proline metabolism_Homo sapiens_hsa003301.12785380
45Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.09845942
46Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.09299262
47Fructose and mannose metabolism_Homo sapiens_hsa000511.07059938
48Biosynthesis of amino acids_Homo sapiens_hsa012301.05353268
49Tyrosine metabolism_Homo sapiens_hsa003501.05268027
50Hedgehog signaling pathway_Homo sapiens_hsa043401.03308244
51Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.02633823
52Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.99503009
53Ovarian steroidogenesis_Homo sapiens_hsa049130.96916369
54Hippo signaling pathway_Homo sapiens_hsa043900.96747043
55Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.94935729
56Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.93560769
57Proteoglycans in cancer_Homo sapiens_hsa052050.93152130
58Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.89349145
59Peroxisome_Homo sapiens_hsa041460.88238460
60SNARE interactions in vesicular transport_Homo sapiens_hsa041300.86276550
61Pyruvate metabolism_Homo sapiens_hsa006200.82600706
62Basal cell carcinoma_Homo sapiens_hsa052170.82295724
63Fatty acid elongation_Homo sapiens_hsa000620.77793176
64Glycerolipid metabolism_Homo sapiens_hsa005610.76639243
65Carbon metabolism_Homo sapiens_hsa012000.75762707
66Folate biosynthesis_Homo sapiens_hsa007900.74794751
67Prion diseases_Homo sapiens_hsa050200.74237059
68Galactose metabolism_Homo sapiens_hsa000520.74236245
69Phagosome_Homo sapiens_hsa041450.73317758
70Long-term depression_Homo sapiens_hsa047300.72209948
71Vibrio cholerae infection_Homo sapiens_hsa051100.71137444
72Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.70883624
73Pertussis_Homo sapiens_hsa051330.68849033
74Adipocytokine signaling pathway_Homo sapiens_hsa049200.68543513
75Nitrogen metabolism_Homo sapiens_hsa009100.68394179
76cGMP-PKG signaling pathway_Homo sapiens_hsa040220.68343672
77Butanoate metabolism_Homo sapiens_hsa006500.67791319
78Steroid hormone biosynthesis_Homo sapiens_hsa001400.64331328
79Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.61786590
80Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.60285517
81Drug metabolism - other enzymes_Homo sapiens_hsa009830.60097742
82Primary bile acid biosynthesis_Homo sapiens_hsa001200.59921569
83N-Glycan biosynthesis_Homo sapiens_hsa005100.58834276
84Retinol metabolism_Homo sapiens_hsa008300.57799188
85Chemical carcinogenesis_Homo sapiens_hsa052040.57225245
86Salivary secretion_Homo sapiens_hsa049700.56674235
87Non-small cell lung cancer_Homo sapiens_hsa052230.55905336
88Central carbon metabolism in cancer_Homo sapiens_hsa052300.50421400
89Arachidonic acid metabolism_Homo sapiens_hsa005900.48364943
90Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.47791011
91Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.47320310
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.47313982
93Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.47112267
94Lysine degradation_Homo sapiens_hsa003100.47034822
95Wnt signaling pathway_Homo sapiens_hsa043100.44764831
96Circadian entrainment_Homo sapiens_hsa047130.43651661
97Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42734783
98Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.42340435
99Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42250997
100Gap junction_Homo sapiens_hsa045400.41301203
101AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.40678264
102Thyroid hormone synthesis_Homo sapiens_hsa049180.40623092
103Small cell lung cancer_Homo sapiens_hsa052220.38653663
104Dilated cardiomyopathy_Homo sapiens_hsa054140.37951823
105HIF-1 signaling pathway_Homo sapiens_hsa040660.37547561
106Oxytocin signaling pathway_Homo sapiens_hsa049210.37249705
107Melanogenesis_Homo sapiens_hsa049160.36442675
108mRNA surveillance pathway_Homo sapiens_hsa030150.35678408
109Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.34425811
110Glutathione metabolism_Homo sapiens_hsa004800.34366159
111One carbon pool by folate_Homo sapiens_hsa006700.33081654
112Aldosterone synthesis and secretion_Homo sapiens_hsa049250.29924209
113Insulin signaling pathway_Homo sapiens_hsa049100.29738225
114Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.29365545
115Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.28163764
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.27747086
117Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.27703429
118Legionellosis_Homo sapiens_hsa051340.26155828
119Hematopoietic cell lineage_Homo sapiens_hsa046400.25642108
120Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.23961443
121Thyroid cancer_Homo sapiens_hsa052160.23156046
122Cocaine addiction_Homo sapiens_hsa050300.22272502
123Vitamin digestion and absorption_Homo sapiens_hsa049770.22139509
124AMPK signaling pathway_Homo sapiens_hsa041520.21013080
125Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.20748883
126Amphetamine addiction_Homo sapiens_hsa050310.20385056
127Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.20215124
128Circadian rhythm_Homo sapiens_hsa047100.19526564
129Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.19233029
130Thyroid hormone signaling pathway_Homo sapiens_hsa049190.18644012
131cAMP signaling pathway_Homo sapiens_hsa040240.18562169
132Tryptophan metabolism_Homo sapiens_hsa003800.17990211
133Sphingolipid signaling pathway_Homo sapiens_hsa040710.17724689
134Adherens junction_Homo sapiens_hsa045200.17112682
135Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.16955113
136Complement and coagulation cascades_Homo sapiens_hsa046100.16395595
137Platelet activation_Homo sapiens_hsa046110.16334972
138Hepatitis B_Homo sapiens_hsa051610.16292890
139Neurotrophin signaling pathway_Homo sapiens_hsa047220.16131190
140Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.16111861
141Cholinergic synapse_Homo sapiens_hsa047250.12314689
142HTLV-I infection_Homo sapiens_hsa051660.12270269
143Metabolic pathways_Homo sapiens_hsa011000.12240748
144Longevity regulating pathway - mammal_Homo sapiens_hsa042110.11497444
145Bladder cancer_Homo sapiens_hsa052190.11014456
146MicroRNAs in cancer_Homo sapiens_hsa052060.09921720
147Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.09848126
148Axon guidance_Homo sapiens_hsa043600.08509484
149Prostate cancer_Homo sapiens_hsa052150.08296582
150Renal cell carcinoma_Homo sapiens_hsa052110.08010100
151Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.07284751
152Insulin resistance_Homo sapiens_hsa049310.07241841
153Regulation of actin cytoskeleton_Homo sapiens_hsa048100.06325837
154Renin secretion_Homo sapiens_hsa049240.05025381
155Glucagon signaling pathway_Homo sapiens_hsa049220.04928825
156Bile secretion_Homo sapiens_hsa049760.04730801
157Mineral absorption_Homo sapiens_hsa049780.04339362
158Insulin secretion_Homo sapiens_hsa049110.04206454
159Rap1 signaling pathway_Homo sapiens_hsa040150.03256092

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