COL2A1

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 the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)9.48153433
2positive regulation of extracellular matrix organization (GO:1903055)8.87692420
3* collagen fibril organization (GO:0030199)6.86892774
4sphingomyelin metabolic process (GO:0006684)6.81916059
5chondroitin sulfate biosynthetic process (GO:0030206)6.35613850
6* cartilage development (GO:0051216)6.34008083
7regulation of extracellular matrix disassembly (GO:0010715)5.97285935
8endothelial cell morphogenesis (GO:0001886)5.93112074
9positive regulation of chondrocyte differentiation (GO:0032332)5.88749712
10nucleotide-sugar biosynthetic process (GO:0009226)5.86385928
11keratan sulfate biosynthetic process (GO:0018146)5.67096325
12* proteoglycan metabolic process (GO:0006029)5.63154614
13protein retention in ER lumen (GO:0006621)5.59013323
14planar cell polarity pathway involved in neural tube closure (GO:0090179)5.55689346
15iron ion import (GO:0097286)5.39299473
16regulation of extracellular matrix organization (GO:1903053)5.27899380
17maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.20154419
18regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)5.16169776
19hypotonic response (GO:0006971)5.11215731
20cellular glucuronidation (GO:0052695)5.10868504
21positive regulation of cartilage development (GO:0061036)5.05927015
22lipopolysaccharide biosynthetic process (GO:0009103)5.02831613
23* skeletal system development (GO:0001501)4.99702600
24convergent extension (GO:0060026)4.93885417
25regulation of plasminogen activation (GO:0010755)4.88753003
26paraxial mesoderm development (GO:0048339)4.88027107
27* collagen catabolic process (GO:0030574)4.85736379
28endocardial cushion morphogenesis (GO:0003203)4.75484094
29peptidyl-proline hydroxylation (GO:0019511)4.68068466
30* collagen metabolic process (GO:0032963)4.64688539
31keratan sulfate metabolic process (GO:0042339)4.59552909
32uronic acid metabolic process (GO:0006063)4.58390258
33glucuronate metabolic process (GO:0019585)4.58390258
34connective tissue development (GO:0061448)4.50647763
35negative regulation of gluconeogenesis (GO:0045721)4.50179506
36* chondrocyte differentiation (GO:0002062)4.47887499
37* multicellular organismal catabolic process (GO:0044243)4.43130091
38heterochromatin organization (GO:0070828)4.39514057
39regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)4.38569035
40regulation of non-canonical Wnt signaling pathway (GO:2000050)4.34578522
41* multicellular organismal macromolecule metabolic process (GO:0044259)4.32961389
42dorsal/ventral axis specification (GO:0009950)4.31101557
43G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071994.28779510
44axon extension involved in axon guidance (GO:0048846)4.24398061
45neuron projection extension involved in neuron projection guidance (GO:1902284)4.24398061
46regulation of chondrocyte differentiation (GO:0032330)4.23790739
47lipopolysaccharide metabolic process (GO:0008653)4.23636377
48glycosaminoglycan biosynthetic process (GO:0006024)4.19992763
49myelin assembly (GO:0032288)4.18756181
50UDP-N-acetylglucosamine metabolic process (GO:0006047)4.17225444
51* replacement ossification (GO:0036075)4.14502742
52* endochondral ossification (GO:0001958)4.14502742
53chondrocyte proliferation (GO:0035988)4.14486521
54aminoglycan biosynthetic process (GO:0006023)4.13987769
55positive regulation of hormone biosynthetic process (GO:0046886)4.13327063
56Wnt signaling pathway, planar cell polarity pathway (GO:0060071)4.13064670
57* multicellular organismal metabolic process (GO:0044236)4.13019913
58response to gravity (GO:0009629)4.10616403
59short-term memory (GO:0007614)4.09546404
60regulation of cardioblast differentiation (GO:0051890)4.04107751
61detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.03724750
62negative regulation of smooth muscle cell differentiation (GO:0051151)4.02801750
63embryonic foregut morphogenesis (GO:0048617)4.00380963
64regulation of establishment of planar polarity (GO:0090175)3.95210352
65regulation of cartilage development (GO:0061035)3.94951912
66mesenchyme morphogenesis (GO:0072132)3.93405855
67neuronal stem cell maintenance (GO:0097150)3.92259628
68* extracellular matrix disassembly (GO:0022617)3.86927154
69chondroitin sulfate metabolic process (GO:0030204)3.85024473
70lung-associated mesenchyme development (GO:0060484)3.83338378
71establishment of apical/basal cell polarity (GO:0035089)3.82095432
72mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.77294641
73COPII vesicle coating (GO:0048208)3.76360519
74somite development (GO:0061053)3.73941782
75lateral sprouting from an epithelium (GO:0060601)3.73226948
76pre-miRNA processing (GO:0031054)3.72176384
77glycosaminoglycan catabolic process (GO:0006027)3.72099218
78regulation of response to osmotic stress (GO:0047484)3.70710086
79endodermal cell differentiation (GO:0035987)3.68489044
80protein hydroxylation (GO:0018126)3.68210964
81outer ear morphogenesis (GO:0042473)3.66355595
82proteoglycan biosynthetic process (GO:0030166)3.66268818
83* glycoprotein metabolic process (GO:0009100)3.63859021
84atrial septum morphogenesis (GO:0060413)3.61742542
85sulfur compound catabolic process (GO:0044273)3.60061059
86cell proliferation in forebrain (GO:0021846)3.58950546
87negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.55530339
88regulation of type B pancreatic cell apoptotic process (GO:2000674)3.53564189
89embryonic viscerocranium morphogenesis (GO:0048703)3.51574002
90branching involved in salivary gland morphogenesis (GO:0060445)3.50524241
91negative regulation of cartilage development (GO:0061037)3.49421279
92tongue development (GO:0043586)3.49187771
93aminoglycan catabolic process (GO:0006026)3.49174976
94Golgi transport vesicle coating (GO:0048200)3.46542554
95COPI coating of Golgi vesicle (GO:0048205)3.46542554
96non-canonical Wnt signaling pathway (GO:0035567)3.45135900
97hyperosmotic salinity response (GO:0042538)3.43951700
98regulation of bone mineralization (GO:0030500)3.39313481
99nucleotide-sugar metabolic process (GO:0009225)3.37084093
100* notochord development (GO:0030903)3.36943878
101regulation of steroid hormone biosynthetic process (GO:0090030)3.35771596
102* extracellular matrix organization (GO:0030198)3.34095739
103embryonic camera-type eye development (GO:0031076)3.33854479
104* extracellular structure organization (GO:0043062)3.33196814
105negative regulation of chondrocyte differentiation (GO:0032331)3.32588200
106establishment or maintenance of monopolar cell polarity (GO:0061339)3.32070713
107establishment of monopolar cell polarity (GO:0061162)3.32070713
108otic vesicle formation (GO:0030916)3.29242810
109bone development (GO:0060348)3.27085261
110regulation of stem cell maintenance (GO:2000036)3.22307911
111regulation of integrin-mediated signaling pathway (GO:2001044)3.22203074
112heart valve formation (GO:0003188)3.19706475
113negative regulation of cell fate specification (GO:0009996)3.18761175
114mucopolysaccharide metabolic process (GO:1903510)3.17557805
115* ossification (GO:0001503)3.17408241
116regulation of transforming growth factor beta2 production (GO:0032909)3.16089563
117negative regulation of endothelial cell proliferation (GO:0001937)3.15627540
118radial glial cell differentiation (GO:0060019)3.14214204
119negative regulation of glycogen biosynthetic process (GO:0045719)3.10137424
120positive regulation of neuroblast proliferation (GO:0002052)3.09121671
121regulation of cell fate specification (GO:0042659)3.08661725
122positive regulation of male gonad development (GO:2000020)3.06231683
123DNA unwinding involved in DNA replication (GO:0006268)3.06137319
124dorsal/ventral neural tube patterning (GO:0021904)3.05959192
125type B pancreatic cell development (GO:0003323)3.05503908
126regulation of biomineral tissue development (GO:0070167)3.05282602
127bone trabecula formation (GO:0060346)3.05132255
128establishment of planar polarity (GO:0001736)3.03094473
129establishment of tissue polarity (GO:0007164)3.03094473
130establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)3.01185057
131positive regulation of neurological system process (GO:0031646)3.00113219
132viral transcription (GO:0019083)2.99703409
133regulation of cell maturation (GO:1903429)2.99666784
134negative regulation of DNA repair (GO:0045738)2.99626614
135post-anal tail morphogenesis (GO:0036342)2.98869372
136nephron tubule formation (GO:0072079)2.98671598
137ribosomal small subunit assembly (GO:0000028)2.98431252
138negative regulation of chemokine production (GO:0032682)2.98211346
139appendage development (GO:0048736)2.97431980
140limb development (GO:0060173)2.97431980
141cochlea morphogenesis (GO:0090103)2.97219940
142positive regulation of gastrulation (GO:2000543)2.97193003
143positive regulation of hormone metabolic process (GO:0032352)2.97000631
144negative regulation of glycogen metabolic process (GO:0070874)2.95823481
145cell proliferation involved in metanephros development (GO:0072203)2.94818969
146mesenchymal cell proliferation (GO:0010463)2.94583195
147digestive tract morphogenesis (GO:0048546)2.92436471
148artery development (GO:0060840)2.92091535
149camera-type eye morphogenesis (GO:0048593)2.91835104
150translational termination (GO:0006415)2.86396203
151body morphogenesis (GO:0010171)2.86276060
152regulation of gene silencing by RNA (GO:0060966)2.86235808
153regulation of posttranscriptional gene silencing (GO:0060147)2.86235808
154regulation of gene silencing by miRNA (GO:0060964)2.86235808
155protein-DNA complex disassembly (GO:0032986)2.85722220
156nucleosome disassembly (GO:0006337)2.85722220
157thalamus development (GO:0021794)2.84830042
158lens fiber cell development (GO:0070307)2.81962358
159hindbrain development (GO:0030902)2.80960091
160positive regulation of smoothened signaling pathway (GO:0045880)2.77493974
161establishment or maintenance of bipolar cell polarity (GO:0061245)2.76515820
162establishment or maintenance of apical/basal cell polarity (GO:0035088)2.76515820
163regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.75883017
164regulation of mesoderm development (GO:2000380)2.72998594
165embryonic hindlimb morphogenesis (GO:0035116)2.72801029
166hindlimb morphogenesis (GO:0035137)2.70145291
167midbrain development (GO:0030901)2.69636135
168morphogenesis of an epithelial sheet (GO:0002011)2.68048693
169mesenchymal to epithelial transition (GO:0060231)2.66781938
170apical protein localization (GO:0045176)2.63458140
171mesenchymal cell differentiation (GO:0048762)2.61782211
172DNA strand renaturation (GO:0000733)2.61488440
173neural tube closure (GO:0001843)2.59836894
174pituitary gland development (GO:0021983)2.59117042
175gastrulation with mouth forming second (GO:0001702)2.58840502
176tube closure (GO:0060606)2.58614471
177regulation of heart morphogenesis (GO:2000826)2.55327083
178asymmetric protein localization (GO:0008105)2.54605150
179adult heart development (GO:0007512)2.53631131
180establishment of nucleus localization (GO:0040023)2.53548159
181nephron tubule morphogenesis (GO:0072078)2.52170856
182nephron epithelium morphogenesis (GO:0072088)2.52170856
183regulation of neuroblast proliferation (GO:1902692)2.51794956
184chromatin assembly (GO:0031497)2.50732565
185DNA damage response, detection of DNA damage (GO:0042769)2.49210678
186cell surface receptor signaling pathway involved in heart development (GO:0061311)2.48944326
187kidney morphogenesis (GO:0060993)2.47953030
188negative regulation of striated muscle cell apoptotic process (GO:0010664)2.47711966
189chondrocyte development (GO:0002063)12.8489601
190keratan sulfate catabolic process (GO:0042340)11.6123933
191* cartilage condensation (GO:0001502)10.9216104
192* cell aggregation (GO:0098743)10.9216104
193* cartilage development involved in endochondral bone morphogenesis (GO:0060351)10.8103055

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human8.85646811
2AR_21572438_ChIP-Seq_LNCaP_Human5.66526045
3TP63_17297297_ChIP-ChIP_HaCaT_Human4.77918431
4GATA1_22025678_ChIP-Seq_K562_Human4.23478457
5ZFP322A_24550733_ChIP-Seq_MESCs_Mouse4.19259110
6RBPJ_22232070_ChIP-Seq_NCS_Mouse4.15047455
7SMAD_19615063_ChIP-ChIP_OVARY_Human3.90953241
8E2F7_22180533_ChIP-Seq_HELA_Human3.65287653
9ESR1_21235772_ChIP-Seq_MCF-7_Human3.35390479
10FOXM1_23109430_ChIP-Seq_U2OS_Human3.15969532
11TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.01902853
12EZH2_22144423_ChIP-Seq_EOC_Human2.76905475
13HIF1A_21447827_ChIP-Seq_MCF-7_Human2.60925262
14HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.54946470
15CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.51007211
16PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.50355301
17TP63_19390658_ChIP-ChIP_HaCaT_Human2.46751707
18ISL1_27105846_Chip-Seq_CPCs_Mouse2.41978254
19RARG_19884340_ChIP-ChIP_MEFs_Mouse2.41682657
20NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.34911213
21ESR2_21235772_ChIP-Seq_MCF-7_Human2.34203808
22ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.22418103
23CJUN_26792858_Chip-Seq_BT549_Human2.17915716
24POU5F1_16153702_ChIP-ChIP_HESCs_Human2.03230233
25* CBX2_27304074_Chip-Seq_ESCs_Mouse2.01711465
26SOX2_18555785_ChIP-Seq_MESCs_Mouse1.99285534
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.98695881
28FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.97346155
29EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.97342787
30SALL1_21062744_ChIP-ChIP_HESCs_Human1.95978234
31POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.95931271
32E2F4_17652178_ChIP-ChIP_JURKAT_Human1.92917987
33SOX2_16153702_ChIP-ChIP_HESCs_Human1.91687906
34HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.91332672
35ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.88381752
36WT1_19549856_ChIP-ChIP_CCG9911_Human1.87086104
37* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.80811087
38ZNF217_24962896_ChIP-Seq_MCF-7_Human1.75069835
39* EED_16625203_ChIP-ChIP_MESCs_Mouse1.74753325
40TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.73452756
41CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.73413285
42TP53_18474530_ChIP-ChIP_U2OS_Human1.73250165
43* EZH2_27304074_Chip-Seq_ESCs_Mouse1.72176126
44* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.69728041
45MYC_18555785_ChIP-Seq_MESCs_Mouse1.64623241
46PCGF2_27294783_Chip-Seq_ESCs_Mouse1.63897852
47FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.61339954
48NANOG_16153702_ChIP-ChIP_HESCs_Human1.58611513
49SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.56522798
50* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.55080782
51RXR_22108803_ChIP-Seq_LS180_Human1.54826692
52NANOG_21062744_ChIP-ChIP_HESCs_Human1.53204068
53FLI1_27457419_Chip-Seq_LIVER_Mouse1.51837816
54JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.51115733
55AR_21909140_ChIP-Seq_LNCAP_Human1.51047881
56* KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.48301894
57* RING1B_27294783_Chip-Seq_ESCs_Mouse1.47048370
58* RING1B_27294783_Chip-Seq_NPCs_Mouse1.46625506
59ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.43768678
60SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.43597527
61VDR_24787735_ChIP-Seq_THP-1_Human1.43481196
62* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.42429514
63SOX2_20726797_ChIP-Seq_SW620_Human1.42259968
64TCF3_18692474_ChIP-Seq_MESCs_Mouse1.42101027
65NRF2_20460467_ChIP-Seq_MEFs_Mouse1.42044648
66NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.42044648
67* TP53_20018659_ChIP-ChIP_R1E_Mouse1.39889582
68* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.39050661
69* RNF2_27304074_Chip-Seq_NSC_Mouse1.37561560
70ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.36969721
71TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.36340589
72RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.34773244
73DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.34729766
74BRD4_25478319_ChIP-Seq_HGPS_Human1.33938202
75ELK1_22589737_ChIP-Seq_MCF10A_Human1.33592156
76KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.32462522
77KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.32462522
78KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.32462522
79SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.31337721
80KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.30468878
81GATA1_26923725_Chip-Seq_HPCs_Mouse1.30175563
82SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.29525624
83SALL4_18804426_ChIP-ChIP_XEN_Mouse1.29401340
84FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.29120694
85FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.28747845
86GATA3_24758297_ChIP-Seq_MCF-7_Human1.27299672
87POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.27189408
88TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27189408
89NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.27068941
90TCF3_18692474_ChIP-Seq_MEFs_Mouse1.23983833
91JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23949652
92* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.23773844
93ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.22695898
94SUZ12_27294783_Chip-Seq_NPCs_Mouse1.21762308
95FUS_26573619_Chip-Seq_HEK293_Human1.21258631
96SMAD3_21741376_ChIP-Seq_EPCs_Human1.21055229
97DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.20641407
98* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.20564847
99CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.19820267
100* SOX3_22085726_ChIP-Seq_NPCs_Mouse1.19609945
101POU5F1_16518401_ChIP-PET_MESCs_Mouse1.19499277
102* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.19170916
103* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.19170916
104* EZH2_27294783_Chip-Seq_ESCs_Mouse1.18215207
105* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.18142516
106CLOCK_20551151_ChIP-Seq_293T_Human1.17688131
107* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.17168093
108MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.16980995
109E2F1_21310950_ChIP-Seq_MCF-7_Human1.16782128
110POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.15759869
111TAF15_26573619_Chip-Seq_HEK293_Human1.14052766
112* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.13946456
113EZH2_27294783_Chip-Seq_NPCs_Mouse1.13296964
114* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.13118539
115CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.12590715
116STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.12123511
117SA1_22415368_ChIP-Seq_MEFs_Mouse1.10115622
118UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.09864621
119SOX9_26525672_Chip-Seq_HEART_Mouse1.09677536
120* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.09637459
121NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.08864192
122* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.08358733
123SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.07815968
124SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.07613789
125SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.07613789
126* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.07169979
127NFIB_24661679_ChIP-Seq_LUNG_Mouse1.06399927
128* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.06298606
129TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.06239766
130POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.06234859
131NFE2_27457419_Chip-Seq_LIVER_Mouse1.05891522
132IRF1_19129219_ChIP-ChIP_H3396_Human1.05884033
133PIAS1_25552417_ChIP-Seq_VCAP_Human1.04175015
134MYC_19079543_ChIP-ChIP_MESCs_Mouse1.03766523
135RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.03545927
136EGR1_19032775_ChIP-ChIP_M12_Human1.03385913
137KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.03296511
138CTBP2_25329375_ChIP-Seq_LNCAP_Human1.02492786
139* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.01904185
140TBX3_20139965_ChIP-Seq_ESCs_Mouse1.01057373
141TBX3_20139965_ChIP-Seq_MESCs_Mouse1.00785020
142MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.00706960
143SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.00674698
144NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.00635209
145* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.00495206
146PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.99255264
147NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98994563
148KLF5_20875108_ChIP-Seq_MESCs_Mouse0.98969834
149SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.98540053
150SOX2_18692474_ChIP-Seq_MESCs_Mouse0.97867270
151XRN2_22483619_ChIP-Seq_HELA_Human0.97129435
152MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.97090914
153CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.96148754
154SMC1_22415368_ChIP-Seq_MEFs_Mouse0.96094546
155NANOG_18555785_Chip-Seq_ESCs_Mouse0.95048495
156TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.94851376
157* RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.94843313
158NR3C1_23031785_ChIP-Seq_PC12_Mouse0.92845132
159WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.90921990
160TCF4_22108803_ChIP-Seq_LS180_Human0.90053294
161ESR1_20079471_ChIP-ChIP_T-47D_Human0.87824281
162CDX2_20551321_ChIP-Seq_CACO-2_Human0.87480934
163* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.87337662
164PCGF2_27294783_Chip-Seq_NPCs_Mouse0.87212162
165SMC3_22415368_ChIP-Seq_MEFs_Mouse0.86209372
166P53_22387025_ChIP-Seq_ESCs_Mouse0.84802769
167CTCF_21964334_Chip-Seq_Bcells_Human0.84708627
168TBX20_22080862_ChIP-Seq_HEART_Mouse0.84555789
169TBX20_22328084_ChIP-Seq_HEART_Mouse0.84555789
170* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.84325101
171GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.83820952
172EP300_21415370_ChIP-Seq_HL-1_Mouse0.83668241
173TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.82304733
174GF1B_26923725_Chip-Seq_HPCs_Mouse0.81677398
175TP63_23658742_ChIP-Seq_EP156T_Human0.80870639
176* RNF2_27304074_Chip-Seq_ESCs_Mouse0.78747020
177P300_27058665_Chip-Seq_ZR-75-30cells_Human0.78585358
178NOTCH1_21737748_ChIP-Seq_TLL_Human0.77033374
179ERG_21242973_ChIP-ChIP_JURKAT_Human0.77031265

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002282_abnormal_trachea_morphology6.23871941
2MP0005503_abnormal_tendon_morphology5.12760408
3MP0003646_muscle_fatigue4.88244048
4* MP0002933_joint_inflammation4.86472426
5MP0009250_abnormal_appendicular_skeleto4.44264440
6* MP0000163_abnormal_cartilage_morphology4.30237955
7* MP0004134_abnormal_chest_morphology4.29100619
8MP0006292_abnormal_olfactory_placode3.84479650
9MP0009780_abnormal_chondrocyte_physiolo3.66825608
10* MP0002115_abnormal_skeleton_extremities3.53006033
11MP0001293_anophthalmia3.35101360
12MP0002896_abnormal_bone_mineralization3.00555435
13MP0003283_abnormal_digestive_organ3.00477319
14* MP0002113_abnormal_skeleton_development3.00193153
15MP0000762_abnormal_tongue_morphology2.96161167
16MP0003123_paternal_imprinting2.76369241
17MP0005508_abnormal_skeleton_morphology2.69805784
18MP0001533_abnormal_skeleton_physiology2.66380059
19MP0005390_skeleton_phenotype2.62840637
20MP0002697_abnormal_eye_size2.62024749
21MP0000537_abnormal_urethra_morphology2.59923205
22MP0002938_white_spotting2.56573208
23MP0002909_abnormal_adrenal_gland2.50782188
24MP0001270_distended_abdomen2.44945524
25MP0005377_hearing/vestibular/ear_phenot2.42255497
26MP0003878_abnormal_ear_physiology2.42255497
27* MP0002109_abnormal_limb_morphology2.30929329
28MP0001542_abnormal_bone_strength2.22889694
29MP0009384_cardiac_valve_regurgitation2.04757551
30MP0000751_myopathy1.99931249
31MP0000049_abnormal_middle_ear1.97848831
32MP0002092_abnormal_eye_morphology1.94479754
33MP0003938_abnormal_ear_development1.92780528
34* MP0001286_abnormal_eye_development1.91036222
35MP0000778_abnormal_nervous_system1.90837568
36* MP0003795_abnormal_bone_structure1.89135756
37MP0008438_abnormal_cutaneous_collagen1.84688681
38* MP0002116_abnormal_craniofacial_bone1.73091641
39MP0003656_abnormal_erythrocyte_physiolo1.63379704
40MP0002249_abnormal_larynx_morphology1.61106393
41MP0002108_abnormal_muscle_morphology1.60078621
42* MP0003755_abnormal_palate_morphology1.57379060
43MP0008789_abnormal_olfactory_epithelium1.54579309
44MP0003567_abnormal_fetal_cardiomyocyte1.51313674
45MP0004272_abnormal_basement_membrane1.51086511
46MP0009379_abnormal_foot_pigmentation1.50922916
47MP0005275_abnormal_skin_tensile1.50180336
48MP0002653_abnormal_ependyma_morphology1.49656964
49MP0003136_yellow_coat_color1.47887570
50MP0001346_abnormal_lacrimal_gland1.45971797
51MP0008004_abnormal_stomach_pH1.45711110
52MP0003279_aneurysm1.44248065
53MP0005499_abnormal_olfactory_system1.42201921
54MP0005394_taste/olfaction_phenotype1.42201921
55MP0003315_abnormal_perineum_morphology1.39837646
56* MP0003861_abnormal_nervous_system1.39569036
57MP0003787_abnormal_imprinting1.38900601
58MP0004133_heterotaxia1.38708814
59MP0002998_abnormal_bone_remodeling1.35534845
60MP0002163_abnormal_gland_morphology1.35153498
61MP0003436_decreased_susceptibility_to1.34979776
62MP0003705_abnormal_hypodermis_morpholog1.34757899
63MP0003937_abnormal_limbs/digits/tail_de1.31991778
64* MP0000432_abnormal_head_morphology1.30984550
65MP0009672_abnormal_birth_weight1.30810365
66* MP0002084_abnormal_developmental_patter1.30751045
67MP0000579_abnormal_nail_morphology1.30490189
68MP0005023_abnormal_wound_healing1.28343295
69* MP0002085_abnormal_embryonic_tissue1.27677586
70MP0010030_abnormal_orbit_morphology1.26855842
71MP0005391_vision/eye_phenotype1.25158919
72MP0003195_calcinosis1.21504172
73MP0003566_abnormal_cell_adhesion1.19118115
74MP0008932_abnormal_embryonic_tissue1.18718797
75MP0003890_abnormal_embryonic-extraembry1.17498027
76MP0000631_abnormal_neuroendocrine_gland1.15804344
77MP0003122_maternal_imprinting1.15153764
78MP0004858_abnormal_nervous_system1.13133346
79MP0002102_abnormal_ear_morphology1.12981010
80* MP0002114_abnormal_axial_skeleton1.12962819
81MP0003115_abnormal_respiratory_system1.12588297
82MP0000343_altered_response_to1.06292487
83MP0003121_genomic_imprinting1.05505781
84MP0002932_abnormal_joint_morphology1.05015128
85* MP0002111_abnormal_tail_morphology1.01406591
86MP0003091_abnormal_cell_migration0.99106234
87MP0009697_abnormal_copulation0.97170031
88MP0001672_abnormal_embryogenesis/_devel0.96957077
89MP0005380_embryogenesis_phenotype0.96957077
90MP0003984_embryonic_growth_retardation0.96029590
91* MP0003935_abnormal_craniofacial_develop0.93656583
92* MP0001299_abnormal_eye_distance/0.92569428
93MP0005257_abnormal_intraocular_pressure0.92241591
94MP0002088_abnormal_embryonic_growth/wei0.92169113
95MP0004484_altered_response_of0.91687731
96MP0004084_abnormal_cardiac_muscle0.90027666
97MP0001849_ear_inflammation0.89492459
98MP0000462_abnormal_digestive_system0.89311540
99MP0009703_decreased_birth_body0.89006141
100MP0003942_abnormal_urinary_system0.88163817
101MP0003385_abnormal_body_wall0.87498542
102MP0000383_abnormal_hair_follicle0.86806824
103MP0005197_abnormal_uvea_morphology0.86640019
104MP0005164_abnormal_response_to0.84152986
105MP0003693_abnormal_embryo_hatching0.83509858
106* MP0002152_abnormal_brain_morphology0.82812051
107* MP0001697_abnormal_embryo_size0.82562271
108MP0000566_synostosis0.81793845
109* MP0002081_perinatal_lethality0.80879902
110MP0001958_emphysema0.80645329
111* MP0001963_abnormal_hearing_physiology0.79103232
112MP0003077_abnormal_cell_cycle0.78379202
113MP0000569_abnormal_digit_pigmentation0.77667547
114MP0000428_abnormal_craniofacial_morphol0.77363193
115MP0005195_abnormal_posterior_eye0.76232968
116* MP0004197_abnormal_fetal_growth/weight/0.75803752
117MP0003111_abnormal_nucleus_morphology0.75171268
118MP0005171_absent_coat_pigmentation0.74792195
119MP0005076_abnormal_cell_differentiation0.73536766
120MP0000955_abnormal_spinal_cord0.73281972
121MP0000026_abnormal_inner_ear0.73196921
122MP0002127_abnormal_cardiovascular_syste0.72896320
123MP0004957_abnormal_blastocyst_morpholog0.71321286
124MP0002098_abnormal_vibrissa_morphology0.71246453
125MP0002751_abnormal_autonomic_nervous0.70632707
126* MP0002233_abnormal_nose_morphology0.69956691
127MP0005187_abnormal_penis_morphology0.69369610
128* MP0002752_abnormal_somatic_nervous0.66091804
129MP0005248_abnormal_Harderian_gland0.63357527
130MP0002735_abnormal_chemical_nociception0.62556283
131MP0002234_abnormal_pharynx_morphology0.62029309
132MP0000465_gastrointestinal_hemorrhage0.61944304
133MP0003119_abnormal_digestive_system0.59927779
134MP0001243_abnormal_dermal_layer0.57836348
135* MP0005381_digestive/alimentary_phenotyp0.55538735
136MP0003941_abnormal_skin_development0.53411281
137* MP0002089_abnormal_postnatal_growth/wei0.52978602
138MP0001177_atelectasis0.48347314
139MP0005367_renal/urinary_system_phenotyp0.47956157
140MP0000516_abnormal_urinary_system0.47956157
141* MP0001943_abnormal_respiration0.47909246
142MP0000534_abnormal_ureter_morphology0.47621636
143MP0008775_abnormal_heart_ventricle0.46866531
144MP0005646_abnormal_pituitary_gland0.45777753
145MP0005379_endocrine/exocrine_gland_phen0.45510323
146MP0009053_abnormal_anal_canal0.45379631
147MP0005166_decreased_susceptibility_to0.44555133
148MP0002877_abnormal_melanocyte_morpholog0.42858702
149MP0005623_abnormal_meninges_morphology0.42173332
150MP0003950_abnormal_plasma_membrane0.39176705
151MP0001340_abnormal_eyelid_morphology0.39032779
152MP0001873_stomach_inflammation0.38812233
153MP0002060_abnormal_skin_morphology0.38572178
154MP0002139_abnormal_hepatobiliary_system0.38458981
155MP0004036_abnormal_muscle_relaxation0.33675107
156* MP0001663_abnormal_digestive_system0.33582299
157MP0003448_altered_tumor_morphology0.32432215
158MP0000767_abnormal_smooth_muscle0.30207938

Predicted human phenotypes

RankGene SetZ-score
1Small epiphyses (HP:0010585)8.46399769
2* Vitreoretinal degeneration (HP:0000655)7.37291416
3* Genu varum (HP:0002970)6.04028719
4* Cupped ribs (HP:0000887)5.95997863
5* Hypoplastic ischia (HP:0003175)5.94063400
6Mild short stature (HP:0003502)5.46025966
7* Abnormality of the ischium (HP:0003174)5.17633704
8* Abnormality of femoral epiphyses (HP:0006499)5.09440730
9* Abnormality involving the epiphyses of the lower limbs (HP:0006500)5.09440730
10* Abnormal tarsal ossification (HP:0008369)5.04210102
11* Aplasia/Hypoplasia of the pubic bone (HP:0009104)4.80792761
12* Delayed epiphyseal ossification (HP:0002663)4.79139612
13Metaphyseal dysplasia (HP:0100255)4.78495373
14* Osteoarthritis (HP:0002758)4.53247003
15* Flat capital femoral epiphysis (HP:0003370)4.51045725
16* Abnormality of the epiphysis of the femoral head (HP:0010574)4.46778549
17* Flat acetabular roof (HP:0003180)4.43948427
18* Abnormality of the vertebral endplates (HP:0005106)4.29820575
19* Abnormality of the femoral head (HP:0003368)4.12092570
20Abnormality of carpal bone ossification (HP:0006257)4.09279246
21High anterior hairline (HP:0009890)4.08854845
22Enlarged epiphyses (HP:0010580)3.97327132
23Anophthalmia (HP:0000528)3.89067729
24* Short femoral neck (HP:0100864)3.73925898
25Carpal bone hypoplasia (HP:0001498)3.66684254
26* Platyspondyly (HP:0000926)3.64817513
27* Abnormal foot bone ossification (HP:0010675)3.64239250
28* Flattened epiphyses (HP:0003071)3.60049336
29* Metaphyseal cupping (HP:0003021)3.51101361
30* Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)3.45216696
31Absent frontal sinuses (HP:0002688)3.43853304
32* Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)3.38909029
33* Absent epiphyses (HP:0010577)3.38909029
34Partial duplication of thumb phalanx (HP:0009944)3.37043016
35* Metaphyseal irregularity (HP:0003025)3.33183874
36Abnormality of incisor morphology (HP:0011063)3.32907004
37Abnormal hand bone ossification (HP:0010660)3.31615504
38Spinal cord compression (HP:0002176)3.27225032
39Partial duplication of the phalanx of hand (HP:0009999)3.26673511
40* Irregular vertebral endplates (HP:0003301)3.21941151
41* Waddling gait (HP:0002515)3.21535834
42Abnormal ossification of hand bones (HP:0005921)3.20774832
43* Coxa vara (HP:0002812)3.14199686
44Short 4th metacarpal (HP:0010044)3.10589875
45Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.10589875
46Fibular hypoplasia (HP:0003038)3.10257908
47Mesomelia (HP:0003027)3.04642855
48Long clavicles (HP:0000890)3.02265333
49Preaxial foot polydactyly (HP:0001841)2.99394394
50Abnormality of the aortic arch (HP:0012303)2.96679471
51Midline defect of the nose (HP:0004122)2.90045009
52Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.88199959
53Vertebral hypoplasia (HP:0008417)2.88199959
54Abnormality of cochlea (HP:0000375)2.85645058
55Cutaneous finger syndactyly (HP:0010554)2.84605796
56Abnormality of the 4th metacarpal (HP:0010012)2.82790806
57Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.81148014
58Bilateral microphthalmos (HP:0007633)2.80987460
59Rib fusion (HP:0000902)2.79211683
60Septo-optic dysplasia (HP:0100842)2.76924550
61* Arthropathy (HP:0003040)2.76817058
62* Protuberant abdomen (HP:0001538)2.75711853
63Coronal craniosynostosis (HP:0004440)2.70519194
64Relative macrocephaly (HP:0004482)2.69924148
65* Aplasia/hypoplasia of the femur (HP:0005613)2.65849073
66Cutaneous syndactyly (HP:0012725)2.65631894
67Bifid tongue (HP:0010297)2.65455903
68* Abnormal vertebral ossification (HP:0100569)2.64561221
69* Abnormality of the pubic bones (HP:0003172)2.63108251
70Colon cancer (HP:0003003)2.60728731
71* Lumbar hyperlordosis (HP:0002938)2.60624244
72Duplication of thumb phalanx (HP:0009942)2.58963696
73* Neonatal short-limb short stature (HP:0008921)2.58630985
74Trigonocephaly (HP:0000243)2.57823521
75* Micromelia (HP:0002983)2.57439650
76* Limited elbow extension (HP:0001377)2.54193607
77Radial bowing (HP:0002986)2.53264831
78* Broad thumb (HP:0011304)2.52918729
79Reticulocytopenia (HP:0001896)2.52106469
80Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.50290477
81Rhizomelia (HP:0008905)2.50045097
82* Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.49795689
83Morphological abnormality of the inner ear (HP:0011390)2.49019855
84Hepatoblastoma (HP:0002884)2.48300196
85Ulnar bowing (HP:0003031)2.42734012
86* Ovoid vertebral bodies (HP:0003300)2.40615888
87* Limited hip movement (HP:0008800)2.39414250
88Omphalocele (HP:0001539)2.38042378
89Severe Myopia (HP:0011003)2.36521773
90Abnormality of the frontal sinuses (HP:0002687)2.35885295
91* Abnormality of the vitreous humor (HP:0004327)2.32563092
92Maternal diabetes (HP:0009800)2.31665787
93* Barrel-shaped chest (HP:0001552)2.30920039
94* Stillbirth (HP:0003826)2.30370782
95Missing ribs (HP:0000921)2.30209051
96* Broad phalanges of the hand (HP:0009768)2.30102465
97Broad toe (HP:0001837)2.27879454
98Patent foramen ovale (HP:0001655)2.27773458
99Abnormality of the middle phalanges of the toes (HP:0010183)2.27762480
100Aplasia/Hypoplasia of the scapulae (HP:0006713)2.26529598
101Hypoplastic scapulae (HP:0000882)2.26529598
102Choanal stenosis (HP:0000452)2.22227041
10311 pairs of ribs (HP:0000878)2.20819563
104Turricephaly (HP:0000262)2.20080371
105Hypoplasia of the capital femoral epiphysis (HP:0003090)2.19940716
106Oligodactyly (HP:0012165)2.19336490
107* Broad finger (HP:0001500)2.18853749
108Abnormality of the phalanges of the hallux (HP:0010057)2.16728826
109* Exostoses (HP:0100777)2.13681863
110Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.12476384
111Renal duplication (HP:0000075)2.12124038
112Myelomeningocele (HP:0002475)2.11120353
113Renal hypoplasia (HP:0000089)2.09794392
114Abnormality of the parietal bone (HP:0002696)2.08823586
115* Genu valgum (HP:0002857)2.05172939
116Ectopic kidney (HP:0000086)2.04961261
117* Broad phalanx (HP:0006009)2.04883782
118Aplasia/Hypoplasia of the fibula (HP:0006492)2.04043381
119Renal dysplasia (HP:0000110)2.03952141
120Triphalangeal thumb (HP:0001199)2.02956866
121Morphological abnormality of the middle ear (HP:0008609)2.01931895
122* Hypoplastic ilia (HP:0000946)2.01509217
123Abnormality of the distal phalanx of the thumb (HP:0009617)2.01257712
124Wide anterior fontanel (HP:0000260)2.00489407
125Abnormal lung lobation (HP:0002101)2.00381390
126Ulnar deviation of the wrist (HP:0003049)2.00331412
127* Epiphyseal dysplasia (HP:0002656)11.3458141
128* Irregular epiphyses (HP:0010582)10.4301860
129Hemivertebrae (HP:0002937)1.99808577
130Bicornuate uterus (HP:0000813)1.99794545
131Aplasia involving bones of the upper limbs (HP:0009823)1.99148046
132Aplasia of the phalanges of the hand (HP:0009802)1.99148046
133Aplasia involving bones of the extremities (HP:0009825)1.99148046
134* Beaking of vertebral bodies (HP:0004568)1.97198742
135Abnormality of the diencephalon (HP:0010662)1.96381929
136* Broad palm (HP:0001169)1.96149456
137* Broad long bones (HP:0005622)1.93660573
138* Thin ribs (HP:0000883)1.93015908
139Skull defect (HP:0001362)1.91851331
140Partial agenesis of the corpus callosum (HP:0001338)1.89465206
141Atresia of the external auditory canal (HP:0000413)1.89443767
142Coarctation of aorta (HP:0001680)1.88490317
143* Aplasia/Hypoplasia involving the vertebral column (HP:0008518)1.87178521
144Intestinal atresia (HP:0011100)1.86205246
145Aplasia/Hypoplasia of the sternum (HP:0006714)1.84312316
146Abnormal number of incisors (HP:0011064)1.83650340
147Broad hallux (HP:0010055)1.82579214
148Rectovaginal fistula (HP:0000143)1.80961095
149Rectal fistula (HP:0100590)1.80961095
150* Abnormality of the acetabulum (HP:0003170)1.80311676
151Facial hemangioma (HP:0000329)1.80201767
152Esophageal atresia (HP:0002032)1.79597972
153Congenital diaphragmatic hernia (HP:0000776)1.79436318
154* Synostosis of carpal bones (HP:0005048)1.79035301
155* Hypoplasia of the odontoid process (HP:0003311)1.78738928
156* Vertebral clefting (HP:0008428)1.78609199
157Follicular hyperkeratosis (HP:0007502)1.77887922
158Absent eyebrow (HP:0002223)1.77540407
159* Short ribs (HP:0000773)1.77170243
160Abnormality of the distal phalanges of the toes (HP:0010182)1.76959897
161Aplasia/Hypoplasia of the breasts (HP:0010311)1.75126832
162Bell-shaped thorax (HP:0001591)1.72487709
163Increased nuchal translucency (HP:0010880)1.71087162
164Absent septum pellucidum (HP:0001331)1.70758942
165Abnormality of the lacrimal duct (HP:0011481)1.69624186
166Diastasis recti (HP:0001540)1.69150427
167Broad distal phalanx of finger (HP:0009836)1.68921899
168Preaxial hand polydactyly (HP:0001177)1.68742081
169Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.67795746
170Down-sloping shoulders (HP:0200021)1.67543012
171Arnold-Chiari malformation (HP:0002308)1.67174318
172Vaginal fistula (HP:0004320)1.66605179
173Oligodactyly (hands) (HP:0001180)1.65247683
174Abnormality of the incisor (HP:0000676)1.64689612
175* Short middle phalanx of finger (HP:0005819)1.63808002
176* Glossoptosis (HP:0000162)1.63505325
177Bowing of the arm (HP:0006488)1.62765414
178Bowed forearm bones (HP:0003956)1.62765414
179Abnormality of proline metabolism (HP:0010907)1.62006643
180Hydroxyprolinuria (HP:0003080)1.62006643
181* Hip contracture (HP:0003273)1.60295341
182* Flared metaphyses (HP:0003015)1.57703354

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR29.21120821
2MAP3K36.75993034
3STK38L4.65683858
4STK244.18523648
5NME14.00569896
6PRKG23.82125328
7MAP3K103.43536182
8FGFR22.82776737
9TYRO32.48916149
10MST42.45131300
11ERBB32.40645151
12CDC72.38383156
13MAPK152.36647287
14CDK122.16342508
15PRKD31.91547702
16LATS11.86888925
17PLK21.83546621
18NUAK11.69388777
19MKNK21.61671153
20VRK21.56749691
21STK31.55051649
22SRPK11.54850335
23TRPM71.50293793
24TAOK11.48079063
25TNIK1.47910018
26CDK191.47090508
27PLK41.46788134
28CAMK1G1.44029478
29DYRK1A1.42205850
30TAF11.38237363
31PASK1.33640023
32PNCK1.30410452
33SIK11.29795233
34PIM21.26810673
35EIF2AK31.24210873
36CASK1.22448993
37CAMK1D1.22149150
38ERBB21.18956083
39DYRK21.15090440
40NEK21.12773744
41NEK61.12148928
42DYRK31.11347765
43WEE11.10846322
44TTK1.01443192
45MET1.01155336
46ICK1.00199416
47MKNK10.96816774
48MAPK70.96769923
49NTRK20.95544000
50MAPK120.94582498
51MAP3K40.94488735
52ATR0.94358170
53SMG10.94105017
54CHEK20.93181571
55PTK60.93155446
56DYRK1B0.92886089
57ROCK10.90187249
58NME20.90076190
59EPHB20.85282699
60PBK0.82840425
61RIPK10.80647817
62CAMKK20.79593945
63CDK70.79091005
64PDK20.77601439
65TRIB30.77223481
66PLK10.76706921
67RPS6KA40.74955710
68EIF2AK10.73564306
69PDGFRA0.72954621
70GSK3A0.72131715
71EPHA20.71814536
72PIK3CA0.70632955
73VRK10.68958130
74MAP2K30.68568854
75FGFR40.68184470
76CSNK1G30.68030996
77WNK40.68011990
78TAOK20.67043035
79EEF2K0.65811721
80MAPK40.64205095
81AURKB0.62693016
82CDK11A0.62675623
83FLT30.62080292
84CHEK10.60416308
85FGFR30.60290931
86ATM0.58817844
87MTOR0.58684589
88MAP3K110.57821008
89CDK150.57664747
90CDK180.56711327
91MAP2K40.54838260
92TIE10.54617033
93BRSK20.53173744
94PLK30.51494998
95WNK30.51118382
96NTRK10.50805476
97CDK10.50542680
98FGFR10.50349189
99NLK0.49066264
100CDK40.48830921
101BCR0.48826787
102CDK20.48746053
103PRKCG0.47912600
104BRSK10.47719423
105FGR0.47578624
106STK110.46282921
107MAP2K70.45298872
108STK390.44662818
109CSNK1G20.44622472
110KSR10.42144173
111MAP3K60.41811297
112TRIM280.41740535
113PAK40.41589087
114PRKDC0.41547114
115LATS20.38310686
116CDK90.37739189
117RPS6KC10.37205897
118RPS6KL10.37205897
119CDK140.36921463
120PTK2B0.33447668
121PRKG10.33360520
122TGFBR10.31331824
123SIK30.30565910
124PIM10.28722272
125PRKACG0.27953197
126PRKCH0.27508854
127EIF2AK20.27260795
128LIMK10.26793391
129PKN20.26508998
130CAMKK10.26155006
131PRKCD0.26051053
132RPS6KB10.25075411
133EPHA40.23676374
134CSF1R0.23512710
135MAP3K50.23330506
136CSNK1A1L0.23121608
137SGK10.22198532
138MAPK100.22006890
139IGF1R0.21409099
140MAPK30.20285485
141PRKCI0.20224793
142ABL10.19620222
143MELK0.19343140
144MAPK10.18288367
145PAK30.16831081
146MST1R0.16798646
147FER0.14678750
148CSNK1G10.13899555
149PDGFRB0.13337452
150PRKCE0.13002929
151ADRBK10.12862040
152TESK10.12754291
153MARK30.11836002
154ERBB40.11773245
155PTK20.11636085
156BMX0.11599604
157PRKACA0.11369231
158INSR0.11160351
159BMPR20.10377394
160ROCK20.08365717
161BRD40.08287044
162PRKCA0.08039136
163IKBKB0.07997576
164PRKD20.07252370
165EPHB10.06893172
166STK100.06571438
167AKT10.06116570
168PDK10.05683418
169EGFR0.05483558

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005328.19334797
2* ECM-receptor interaction_Homo sapiens_hsa045125.96690403
3* Protein digestion and absorption_Homo sapiens_hsa049745.45787910
4Ribosome_Homo sapiens_hsa030102.89922745
5Sphingolipid metabolism_Homo sapiens_hsa006002.69952971
6Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.65648817
7Sulfur metabolism_Homo sapiens_hsa009202.61683131
8Steroid biosynthesis_Homo sapiens_hsa001002.42916084
9DNA replication_Homo sapiens_hsa030302.22918676
10* Focal adhesion_Homo sapiens_hsa045102.14872015
11Notch signaling pathway_Homo sapiens_hsa043302.04067086
12Mismatch repair_Homo sapiens_hsa034302.04049321
13Malaria_Homo sapiens_hsa051441.93431023
14TGF-beta signaling pathway_Homo sapiens_hsa043501.92563791
15Olfactory transduction_Homo sapiens_hsa047401.88170891
16Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.84297244
17Protein export_Homo sapiens_hsa030601.83983984
18Starch and sucrose metabolism_Homo sapiens_hsa005001.70603736
19mRNA surveillance pathway_Homo sapiens_hsa030151.66931501
20* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.65942992
21Spliceosome_Homo sapiens_hsa030401.63559867
22Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.60319901
23Tight junction_Homo sapiens_hsa045301.60304180
24Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.58331259
25Fanconi anemia pathway_Homo sapiens_hsa034601.56066766
26Pentose and glucuronate interconversions_Homo sapiens_hsa000401.45675166
27Cell cycle_Homo sapiens_hsa041101.45055847
28Other glycan degradation_Homo sapiens_hsa005111.44916479
29Base excision repair_Homo sapiens_hsa034101.39318544
30Non-homologous end-joining_Homo sapiens_hsa034501.38940416
31Homologous recombination_Homo sapiens_hsa034401.33040646
32Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.30909291
33RNA transport_Homo sapiens_hsa030131.30820865
34Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.30806461
35Nucleotide excision repair_Homo sapiens_hsa034201.29584612
36Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.29037240
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.28184566
38Hippo signaling pathway_Homo sapiens_hsa043901.25918375
39Proteoglycans in cancer_Homo sapiens_hsa052051.21587624
40Hedgehog signaling pathway_Homo sapiens_hsa043401.18005005
41Basal cell carcinoma_Homo sapiens_hsa052171.17334242
42Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.16231929
43Ovarian steroidogenesis_Homo sapiens_hsa049131.13362648
44Small cell lung cancer_Homo sapiens_hsa052221.11534100
45Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.11148653
46Arginine and proline metabolism_Homo sapiens_hsa003301.08576456
47Selenocompound metabolism_Homo sapiens_hsa004501.06962682
48Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.04323218
49Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.92877810
50RNA degradation_Homo sapiens_hsa030180.92200896
51Cardiac muscle contraction_Homo sapiens_hsa042600.90399057
52Biosynthesis of amino acids_Homo sapiens_hsa012300.86471558
53Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.82768733
54SNARE interactions in vesicular transport_Homo sapiens_hsa041300.81242665
55Folate biosynthesis_Homo sapiens_hsa007900.80578175
56Endometrial cancer_Homo sapiens_hsa052130.80205415
57Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.79969454
58Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.78710505
59cGMP-PKG signaling pathway_Homo sapiens_hsa040220.75847667
60Long-term depression_Homo sapiens_hsa047300.72933121
61Phagosome_Homo sapiens_hsa041450.71882796
62Lysine degradation_Homo sapiens_hsa003100.71411433
63Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.67533654
642-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.65533516
65N-Glycan biosynthesis_Homo sapiens_hsa005100.65287961
66Wnt signaling pathway_Homo sapiens_hsa043100.65184303
67Fat digestion and absorption_Homo sapiens_hsa049750.64324932
68Vibrio cholerae infection_Homo sapiens_hsa051100.64008383
69Alcoholism_Homo sapiens_hsa050340.60251298
70Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.59614481
71Basal transcription factors_Homo sapiens_hsa030220.58509844
72Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.58217726
73Propanoate metabolism_Homo sapiens_hsa006400.57471159
74AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.57119628
75Salivary secretion_Homo sapiens_hsa049700.56135227
76Thyroid hormone synthesis_Homo sapiens_hsa049180.55619947
77Galactose metabolism_Homo sapiens_hsa000520.55481070
78Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53854405
79Arachidonic acid metabolism_Homo sapiens_hsa005900.53151807
80Dilated cardiomyopathy_Homo sapiens_hsa054140.52464900
81Melanogenesis_Homo sapiens_hsa049160.51828911
82Melanoma_Homo sapiens_hsa052180.51545283
83Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.50578420
84Cysteine and methionine metabolism_Homo sapiens_hsa002700.49998221
85Gap junction_Homo sapiens_hsa045400.49520607
86Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.48550883
87HIF-1 signaling pathway_Homo sapiens_hsa040660.47085689
88One carbon pool by folate_Homo sapiens_hsa006700.46666081
89p53 signaling pathway_Homo sapiens_hsa041150.46021314
90Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.45355718
91Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.44888824
92Sulfur relay system_Homo sapiens_hsa041220.43862146
93Fatty acid metabolism_Homo sapiens_hsa012120.42999629
94Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.42939289
95Circadian entrainment_Homo sapiens_hsa047130.41763494
96Aldosterone synthesis and secretion_Homo sapiens_hsa049250.40808659
97Adherens junction_Homo sapiens_hsa045200.40358327
98Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.39318059
99Bladder cancer_Homo sapiens_hsa052190.38976646
100alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.38924768
101Huntingtons disease_Homo sapiens_hsa050160.37989415
102Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.37638131
103Glutathione metabolism_Homo sapiens_hsa004800.36447937
104Oxytocin signaling pathway_Homo sapiens_hsa049210.35077008
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33269406
106Carbon metabolism_Homo sapiens_hsa012000.32887215
107Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.32709330
108Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.31943478
109MicroRNAs in cancer_Homo sapiens_hsa052060.31546158
110AMPK signaling pathway_Homo sapiens_hsa041520.30882237
111Butanoate metabolism_Homo sapiens_hsa006500.30482029
112Cyanoamino acid metabolism_Homo sapiens_hsa004600.29161990
113Pyrimidine metabolism_Homo sapiens_hsa002400.28887254
114Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.28791000
115Chronic myeloid leukemia_Homo sapiens_hsa052200.28757785
116Pyruvate metabolism_Homo sapiens_hsa006200.28442752
117Choline metabolism in cancer_Homo sapiens_hsa052310.28246229
118Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.28111735
119HTLV-I infection_Homo sapiens_hsa051660.27040153
120RNA polymerase_Homo sapiens_hsa030200.26701297
121Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.26670451
122Oocyte meiosis_Homo sapiens_hsa041140.26618871
123Thyroid hormone signaling pathway_Homo sapiens_hsa049190.26589863
124Hepatitis B_Homo sapiens_hsa051610.26226735
125Prostate cancer_Homo sapiens_hsa052150.26086511
126Cocaine addiction_Homo sapiens_hsa050300.24301703
127Renal cell carcinoma_Homo sapiens_hsa052110.23048576
128Neurotrophin signaling pathway_Homo sapiens_hsa047220.22565822
129Hematopoietic cell lineage_Homo sapiens_hsa046400.22112794
130Platelet activation_Homo sapiens_hsa046110.21956567
131Longevity regulating pathway - mammal_Homo sapiens_hsa042110.21515066
132Axon guidance_Homo sapiens_hsa043600.21160573
133Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.20025415
134Thyroid cancer_Homo sapiens_hsa052160.18709879
135Insulin resistance_Homo sapiens_hsa049310.18111353
136Amphetamine addiction_Homo sapiens_hsa050310.17962207
137cAMP signaling pathway_Homo sapiens_hsa040240.17921113
138Mineral absorption_Homo sapiens_hsa049780.17554423
139Amoebiasis_Homo sapiens_hsa051460.17395146
140Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.15725548
141Central carbon metabolism in cancer_Homo sapiens_hsa052300.15566665
142Legionellosis_Homo sapiens_hsa051340.14710295
143Complement and coagulation cascades_Homo sapiens_hsa046100.14488926
144Vitamin digestion and absorption_Homo sapiens_hsa049770.14277458
145ErbB signaling pathway_Homo sapiens_hsa040120.13699585
146Pathways in cancer_Homo sapiens_hsa052000.13368157
147Renin secretion_Homo sapiens_hsa049240.12117132
148Rap1 signaling pathway_Homo sapiens_hsa040150.11380123
149Regulation of actin cytoskeleton_Homo sapiens_hsa048100.11371095
150Glucagon signaling pathway_Homo sapiens_hsa049220.11365203
151Colorectal cancer_Homo sapiens_hsa052100.11075139
152Cholinergic synapse_Homo sapiens_hsa047250.10845775
153Insulin secretion_Homo sapiens_hsa049110.08918034

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