COL9A1

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





Description: This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1keratan sulfate catabolic process (GO:0042340)9.58641891
2* cartilage development involved in endochondral bone morphogenesis (GO:0060351)9.07913898
3notochord development (GO:0030903)8.22976676
4collagen fibril organization (GO:0030199)7.82420385
5limb bud formation (GO:0060174)7.62948017
6positive regulation of extracellular matrix organization (GO:1903055)7.39823811
7negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)6.89707761
8embryonic skeletal joint morphogenesis (GO:0060272)5.99889697
9proteoglycan metabolic process (GO:0006029)5.74354126
10chondrocyte differentiation (GO:0002062)5.69557952
11* cartilage development (GO:0051216)5.51214097
12lipopolysaccharide biosynthetic process (GO:0009103)5.45250049
13regulation of extracellular matrix disassembly (GO:0010715)5.41338055
14endochondral ossification (GO:0001958)5.36182227
15replacement ossification (GO:0036075)5.36182227
16* collagen catabolic process (GO:0030574)5.25246962
17sphingomyelin metabolic process (GO:0006684)5.18533023
18* collagen metabolic process (GO:0032963)5.07120888
19protein retention in ER lumen (GO:0006621)5.05867995
20chondroitin sulfate biosynthetic process (GO:0030206)5.00479897
21endocardial cushion morphogenesis (GO:0003203)4.97624964
22positive regulation of chondrocyte differentiation (GO:0032332)4.87150513
23* multicellular organismal catabolic process (GO:0044243)4.80055401
24maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.75676896
25* multicellular organismal macromolecule metabolic process (GO:0044259)4.74229214
26iron ion import (GO:0097286)4.70660503
27keratan sulfate biosynthetic process (GO:0018146)4.61705141
28skeletal system development (GO:0001501)4.61648387
29lipopolysaccharide metabolic process (GO:0008653)4.59238277
30endothelial cell morphogenesis (GO:0001886)4.58828861
31regulation of extracellular matrix organization (GO:1903053)4.53293954
32* multicellular organismal metabolic process (GO:0044236)4.49367578
33positive regulation of cartilage development (GO:0061036)4.43319935
34hypotonic response (GO:0006971)4.28155016
35mesenchyme morphogenesis (GO:0072132)4.27863601
36detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.27030060
37behavioral response to nicotine (GO:0035095)4.26135739
38nucleotide-sugar biosynthetic process (GO:0009226)4.25689331
39peptidyl-proline hydroxylation (GO:0019511)4.11374071
40positive regulation of hormone biosynthetic process (GO:0046886)4.10946583
41glycoprotein metabolic process (GO:0009100)4.07768365
42* extracellular matrix disassembly (GO:0022617)4.00823197
43regulation of plasminogen activation (GO:0010755)3.96932656
44regulation of chondrocyte differentiation (GO:0032330)3.91644204
45response to BMP (GO:0071772)3.90718076
46cellular response to BMP stimulus (GO:0071773)3.90718076
47somite development (GO:0061053)3.88328851
48cellular glucuronidation (GO:0052695)3.86653387
49presynaptic membrane assembly (GO:0097105)3.78858769
50keratan sulfate metabolic process (GO:0042339)3.78067611
51negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.76791736
52regulation of cartilage development (GO:0061035)3.74407939
53negative regulation of gluconeogenesis (GO:0045721)3.68543701
54short-term memory (GO:0007614)3.62140632
55regulation of transforming growth factor beta2 production (GO:0032909)3.59383382
56chondrocyte proliferation (GO:0035988)3.58766158
57response to gravity (GO:0009629)3.57294670
58negative regulation of cartilage development (GO:0061037)3.56800927
59ossification (GO:0001503)3.56720712
60myelin assembly (GO:0032288)3.52771294
61glucuronate metabolic process (GO:0019585)3.51259702
62uronic acid metabolic process (GO:0006063)3.51259702
63regulation of posttranscriptional gene silencing (GO:0060147)3.51003034
64regulation of gene silencing by miRNA (GO:0060964)3.51003034
65regulation of gene silencing by RNA (GO:0060966)3.51003034
66gamma-aminobutyric acid transport (GO:0015812)3.50344647
67glycosaminoglycan biosynthetic process (GO:0006024)3.46259487
68negative regulation of chondrocyte differentiation (GO:0032331)3.43445427
69chromatin remodeling at centromere (GO:0031055)3.42675770
70aminoglycan biosynthetic process (GO:0006023)3.40858304
71postsynaptic membrane organization (GO:0001941)3.39825848
72regulation of heart morphogenesis (GO:2000826)3.39689533
73Golgi transport vesicle coating (GO:0048200)3.38377455
74COPI coating of Golgi vesicle (GO:0048205)3.38377455
75negative regulation of translation, ncRNA-mediated (GO:0040033)3.37827652
76regulation of translation, ncRNA-mediated (GO:0045974)3.37827652
77negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.37827652
78presynaptic membrane organization (GO:0097090)3.36313880
79endodermal cell differentiation (GO:0035987)3.33277872
80type B pancreatic cell proliferation (GO:0044342)3.33123598
81bone trabecula formation (GO:0060346)3.32603825
82embryonic viscerocranium morphogenesis (GO:0048703)3.32244381
83type B pancreatic cell development (GO:0003323)3.28407212
84regulation of steroid hormone biosynthetic process (GO:0090030)3.26333563
85response to pheromone (GO:0019236)3.25211596
86* extracellular matrix organization (GO:0030198)3.24737168
87protein hydroxylation (GO:0018126)3.24361523
88* extracellular structure organization (GO:0043062)3.23761834
89nephron tubule formation (GO:0072079)3.21691127
90inner ear morphogenesis (GO:0042472)3.21203462
91proteoglycan biosynthetic process (GO:0030166)3.21171758
92protein polyglutamylation (GO:0018095)3.20316826
93negative regulation of smooth muscle cell differentiation (GO:0051151)3.20202078
94CENP-A containing nucleosome assembly (GO:0034080)3.18300924
95histone exchange (GO:0043486)3.16874829
96cochlea morphogenesis (GO:0090103)3.13228365
97chondroitin sulfate metabolic process (GO:0030204)3.13178010
98microtubule depolymerization (GO:0007019)3.10613023
99negative regulation of cytosolic calcium ion concentration (GO:0051481)3.04249122
100positive regulation of hormone metabolic process (GO:0032352)3.03921590
101COPII vesicle coating (GO:0048208)3.02150791
102regulation of cell proliferation involved in heart morphogenesis (GO:2000136)3.02135647
103nonmotile primary cilium assembly (GO:0035058)3.01968026
104photoreceptor cell differentiation (GO:0046530)3.00350300
105eye photoreceptor cell differentiation (GO:0001754)3.00350300
106diterpenoid biosynthetic process (GO:0016102)3.00339722
107regulation of mesenchymal cell apoptotic process (GO:2001053)2.98960492
108heart valve morphogenesis (GO:0003179)2.97461574
109UDP-N-acetylglucosamine metabolic process (GO:0006047)2.97191641
110glycosaminoglycan catabolic process (GO:0006027)2.96427189
111centriole replication (GO:0007099)2.94886899
112sulfur compound catabolic process (GO:0044273)2.92704668
113regulation of timing of cell differentiation (GO:0048505)2.91195074
114epithelial to mesenchymal transition (GO:0001837)2.90884670
115positive regulation of stem cell differentiation (GO:2000738)2.90111961
116otic vesicle formation (GO:0030916)2.89842587
117regulation of bone mineralization (GO:0030500)2.88864035
118spinal cord development (GO:0021510)2.88745753
119heart valve formation (GO:0003188)2.87536239
120positive regulation of endothelial cell differentiation (GO:0045603)2.86845148
121cell proliferation in forebrain (GO:0021846)2.86257007
122neuron fate determination (GO:0048664)2.81866800
123negative regulation of DNA-dependent DNA replication (GO:2000104)2.81511776
124negative regulation of transcription regulatory region DNA binding (GO:2000678)2.81492440
125regulation of development, heterochronic (GO:0040034)2.80410276
126transmission of nerve impulse (GO:0019226)2.78816421
127pyrimidine nucleobase catabolic process (GO:0006208)2.78743345
128neuronal stem cell maintenance (GO:0097150)2.77131838
129establishment of protein localization to mitochondrial membrane (GO:0090151)2.76800098
130nephron epithelium morphogenesis (GO:0072088)2.76402409
131nephron tubule morphogenesis (GO:0072078)2.76402409
132cornea development in camera-type eye (GO:0061303)2.75188105
133mitochondrial respiratory chain complex I assembly (GO:0032981)2.75152855
134NADH dehydrogenase complex assembly (GO:0010257)2.75152855
135mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.75152855
136mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.74372102
137replication fork processing (GO:0031297)2.73061804
138epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.72803812
139regulation of non-canonical Wnt signaling pathway (GO:2000050)2.71535678
140retinal cone cell development (GO:0046549)2.69618330
141regulation of nuclear cell cycle DNA replication (GO:0033262)2.67705726
142neuron cell-cell adhesion (GO:0007158)2.66831919
143limb development (GO:0060173)2.66726076
144appendage development (GO:0048736)2.66726076
145regulation of cilium movement (GO:0003352)2.64115812
146epithelial cilium movement (GO:0003351)2.59813208
147epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.59803175
148ATP synthesis coupled proton transport (GO:0015986)2.58739496
149energy coupled proton transport, down electrochemical gradient (GO:0015985)2.58739496
150G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.58646441
151protein complex biogenesis (GO:0070271)2.56947159
152regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.56694643
153tongue development (GO:0043586)2.55561228
154regulation of mesoderm development (GO:2000380)2.55501914
155L-fucose catabolic process (GO:0042355)2.54953553
156fucose catabolic process (GO:0019317)2.54953553
157L-fucose metabolic process (GO:0042354)2.54953553
158head development (GO:0060322)2.54732430
159resolution of meiotic recombination intermediates (GO:0000712)2.53420845
160renal tubule morphogenesis (GO:0061333)2.52643482
161mitochondrial respiratory chain complex assembly (GO:0033108)2.48367296
162lateral sprouting from an epithelium (GO:0060601)2.45346158
163cardiac right ventricle morphogenesis (GO:0003215)2.45043637
164thalamus development (GO:0021794)2.44491472
165cochlea development (GO:0090102)2.43974785
166microtubule polymerization or depolymerization (GO:0031109)2.42743839
167sulfation (GO:0051923)2.42565249
168kinetochore organization (GO:0051383)2.42539729
169retinal ganglion cell axon guidance (GO:0031290)2.41601413
170behavioral response to ethanol (GO:0048149)2.40593689
171intraciliary transport (GO:0042073)2.40554216
172kidney morphogenesis (GO:0060993)2.39587379
173kinetochore assembly (GO:0051382)2.38139281
174glomerulus development (GO:0032835)2.37333565
175platelet dense granule organization (GO:0060155)2.37312687
176sperm motility (GO:0030317)2.36828780
177vocalization behavior (GO:0071625)2.36260161
178DNA double-strand break processing (GO:0000729)2.35892490
179hindbrain development (GO:0030902)2.34077007
180regulation of centriole replication (GO:0046599)2.33762205
181atrial cardiac muscle cell action potential (GO:0086014)2.32839558
182water-soluble vitamin biosynthetic process (GO:0042364)2.30951367
183negative regulation of astrocyte differentiation (GO:0048712)2.29741899
184regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.28675814
185regulation of mitotic spindle checkpoint (GO:1903504)2.28675814
186negative regulation of glial cell differentiation (GO:0045686)2.28196641
187DNA damage response, detection of DNA damage (GO:0042769)2.28071916
188cerebral cortex radially oriented cell migration (GO:0021799)2.27186039
189cilium morphogenesis (GO:0060271)2.26445422
190cAMP catabolic process (GO:0006198)2.26256150
191tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.25992682
192RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.25992682
193positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.25660594
194cilium organization (GO:0044782)2.25656180
195cell aggregation (GO:0098743)12.3064153
196cartilage condensation (GO:0001502)12.3064153
197chondrocyte development (GO:0002063)10.5127536

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human8.59984834
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat6.58186644
3TP63_17297297_ChIP-ChIP_HaCaT_Human5.69276404
4EZH2_22144423_ChIP-Seq_EOC_Human4.48080749
5AR_21572438_ChIP-Seq_LNCaP_Human4.36927626
6ESR1_21235772_ChIP-Seq_MCF-7_Human3.35030877
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.91010960
8ZNF274_21170338_ChIP-Seq_K562_Hela2.78774602
9GBX2_23144817_ChIP-Seq_PC3_Human2.70429235
10VDR_22108803_ChIP-Seq_LS180_Human2.70102522
11GATA1_22025678_ChIP-Seq_K562_Human2.46128214
12ESR2_21235772_ChIP-Seq_MCF-7_Human2.42305706
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.41662880
14SMAD_19615063_ChIP-ChIP_OVARY_Human2.38057752
15EWS_26573619_Chip-Seq_HEK293_Human2.34609132
16FUS_26573619_Chip-Seq_HEK293_Human2.34204638
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.33477446
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.21914401
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.21624965
20HIF1A_21447827_ChIP-Seq_MCF-7_Human2.17625241
21RARG_19884340_ChIP-ChIP_MEFs_Mouse2.13940472
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.09982125
23TAF15_26573619_Chip-Seq_HEK293_Human2.08003979
24P300_19829295_ChIP-Seq_ESCs_Human2.01647331
25GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.00181107
26POU5F1_16153702_ChIP-ChIP_HESCs_Human1.99142709
27CBX2_27304074_Chip-Seq_ESCs_Mouse1.95125106
28SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.94523541
29POU3F2_20337985_ChIP-ChIP_501MEL_Human1.92466370
30PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.86223203
31ZNF217_24962896_ChIP-Seq_MCF-7_Human1.85354391
32EZH2_27304074_Chip-Seq_ESCs_Mouse1.81324008
33WT1_19549856_ChIP-ChIP_CCG9911_Human1.79528467
34RNF2_18974828_ChIP-Seq_MESCs_Mouse1.76190155
35EZH2_18974828_ChIP-Seq_MESCs_Mouse1.76190155
36IGF1R_20145208_ChIP-Seq_DFB_Human1.75648197
37CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.75187581
38CJUN_26792858_Chip-Seq_BT549_Human1.74854705
39ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.72493253
40FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.68187167
41SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.66894608
42POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.64856135
43TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.64856135
44HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.64405935
45E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.64283122
46TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.64032349
47JARID2_20064375_ChIP-Seq_MESCs_Mouse1.62606082
48RNF2_27304074_Chip-Seq_NSC_Mouse1.59840744
49CLOCK_20551151_ChIP-Seq_293T_Human1.59221904
50PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.56923027
51SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.54405911
52SALL1_21062744_ChIP-ChIP_HESCs_Human1.54221152
53* FLI1_27457419_Chip-Seq_LIVER_Mouse1.53422046
54TP53_18474530_ChIP-ChIP_U2OS_Human1.52380999
55JARID2_20075857_ChIP-Seq_MESCs_Mouse1.49111829
56CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.48714617
57HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.47883355
58* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.47361832
59SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.45377413
60REST_21632747_ChIP-Seq_MESCs_Mouse1.44439783
61* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.41483714
62TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.40712199
63* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.39038177
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37996455
65TP63_19390658_ChIP-ChIP_HaCaT_Human1.37764917
66AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.36751069
67RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.36553749
68BCAT_22108803_ChIP-Seq_LS180_Human1.36529042
69E2F4_17652178_ChIP-ChIP_JURKAT_Human1.35494171
70* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.35435331
71SMAD4_21799915_ChIP-Seq_A2780_Human1.34140826
72WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.33643954
73SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.33246831
74IRF1_19129219_ChIP-ChIP_H3396_Human1.33134031
75EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.32757645
76RXR_22108803_ChIP-Seq_LS180_Human1.31998491
77VDR_24787735_ChIP-Seq_THP-1_Human1.31830656
78EP300_21415370_ChIP-Seq_HL-1_Mouse1.31684443
79FOXM1_26456572_ChIP-Seq_MCF-7_Human1.30963222
80KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.30766759
81SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.29766931
82SOX2_20726797_ChIP-Seq_SW620_Human1.29557100
83SOX2_16153702_ChIP-ChIP_HESCs_Human1.29492254
84AR_25329375_ChIP-Seq_VCAP_Human1.28931354
85IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.28010816
86CBP_20019798_ChIP-Seq_JUKART_Human1.28010816
87RBPJ_22232070_ChIP-Seq_NCS_Mouse1.27423891
88GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.26894661
89* MYC_18940864_ChIP-ChIP_HL60_Human1.26510684
90RNF2_27304074_Chip-Seq_ESCs_Mouse1.26329594
91FOXM1_23109430_ChIP-Seq_U2OS_Human1.24441871
92PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24139395
93ER_23166858_ChIP-Seq_MCF-7_Human1.22864200
94NRF2_20460467_ChIP-Seq_MEFs_Mouse1.22471792
95NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.22471792
96GATA3_24758297_ChIP-Seq_MCF-7_Human1.21932771
97TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.21691994
98RUNX2_22187159_ChIP-Seq_PCA_Human1.21374579
99STAT3_23295773_ChIP-Seq_U87_Human1.20795754
100ERG_21242973_ChIP-ChIP_JURKAT_Human1.19625208
101* PCGF2_27294783_Chip-Seq_ESCs_Mouse1.18821824
102EST1_17652178_ChIP-ChIP_JURKAT_Human1.16341569
103SMAD3_21741376_ChIP-Seq_EPCs_Human1.16124072
104TCF4_23295773_ChIP-Seq_U87_Human1.15754877
105BRD4_25478319_ChIP-Seq_HGPS_Human1.14645800
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13345818
107CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.13295395
108TP53_20018659_ChIP-ChIP_R1E_Mouse1.11866860
109PIAS1_25552417_ChIP-Seq_VCAP_Human1.11047986
110CTBP2_25329375_ChIP-Seq_LNCAP_Human1.09156086
111* SOX2_19829295_ChIP-Seq_ESCs_Human1.08718279
112* NANOG_19829295_ChIP-Seq_ESCs_Human1.08718279
113SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.07264847
114* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.07192680
115CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06642454
116JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05515017
117SMAD4_21741376_ChIP-Seq_EPCs_Human1.05418683
118KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.04638324
119SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.04237967
120TCF4_22108803_ChIP-Seq_LS180_Human1.04083855
121SALL4_18804426_ChIP-ChIP_XEN_Mouse1.03344141
122SMAD3_21741376_ChIP-Seq_ESCs_Human1.03329581
123ESR1_20079471_ChIP-ChIP_T-47D_Human1.03199569
124ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.02336432
125MTF2_20144788_ChIP-Seq_MESCs_Mouse1.01907065
126CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.00181131
127NFIB_24661679_ChIP-Seq_LUNG_Mouse0.99751709
128CDX2_19796622_ChIP-Seq_MESCs_Mouse0.99635873
129TP53_22573176_ChIP-Seq_HFKS_Human0.98364965
130OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.98100540
131GATA1_26923725_Chip-Seq_HPCs_Mouse0.97899696
132NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97852199
133* NANOG_18555785_Chip-Seq_ESCs_Mouse0.97748431
134* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97181103
135SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.95953307
136SMC1_22415368_ChIP-Seq_MEFs_Mouse0.95771324
137ISL1_27105846_Chip-Seq_CPCs_Mouse0.93640350
138KDM2B_26808549_Chip-Seq_K562_Human0.92879909
139CTBP1_25329375_ChIP-Seq_LNCAP_Human0.91519426
140BMI1_23680149_ChIP-Seq_NPCS_Mouse0.89625806
141SOX9_24532713_ChIP-Seq_HFSC_Mouse0.88986841
142FOXO3_23340844_ChIP-Seq_DLD1_Human0.88755529
143SUZ12_27294783_Chip-Seq_ESCs_Mouse0.88125544
144JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.88037711
145SA1_22415368_ChIP-Seq_MEFs_Mouse0.87490182
146UBF1/2_26484160_Chip-Seq_HMECs_Human0.87235271
147P300_27058665_Chip-Seq_ZR-75-30cells_Human0.87222579
148UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.86528048
149EZH2_27294783_Chip-Seq_ESCs_Mouse0.86073131
150* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85916279
151RING1B_27294783_Chip-Seq_ESCs_Mouse0.85729500
152TBX20_22328084_ChIP-Seq_HEART_Mouse0.84405234
153TBX20_22080862_ChIP-Seq_HEART_Mouse0.84405234
154PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.83124374
155AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.82557731
156SOX2_21211035_ChIP-Seq_LN229_Gbm0.81926671
157ELK1_22589737_ChIP-Seq_MCF10A_Human0.81921699
158TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.80525365
159CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.78747919
160SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.78479192
161SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.78479192
162ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.78337252
163ARNT_22903824_ChIP-Seq_MCF-7_Human0.78098359
164* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.76699389
165* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.76267679

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004134_abnormal_chest_morphology5.70423467
2MP0002282_abnormal_trachea_morphology5.42412821
3MP0005503_abnormal_tendon_morphology4.36416839
4* MP0002933_joint_inflammation4.11428288
5MP0009250_abnormal_appendicular_skeleto3.95463283
6* MP0000163_abnormal_cartilage_morphology3.79837159
7MP0003136_yellow_coat_color3.30852574
8MP0009780_abnormal_chondrocyte_physiolo3.29050830
9MP0006292_abnormal_olfactory_placode3.16851146
10* MP0002115_abnormal_skeleton_extremities3.16229012
11MP0003646_muscle_fatigue3.02967339
12MP0003879_abnormal_hair_cell2.88063373
13MP0000762_abnormal_tongue_morphology2.86852128
14MP0003123_paternal_imprinting2.84423758
15MP0002113_abnormal_skeleton_development2.76648757
16MP0002089_abnormal_postnatal_growth/wei2.63231896
17MP0001299_abnormal_eye_distance/2.63117401
18MP0002896_abnormal_bone_mineralization2.61937007
19MP0005508_abnormal_skeleton_morphology2.56906362
20MP0001270_distended_abdomen2.35644227
21MP0002938_white_spotting2.28447935
22MP0002736_abnormal_nociception_after2.22648719
23MP0008877_abnormal_DNA_methylation2.16555658
24MP0009384_cardiac_valve_regurgitation2.11489554
25* MP0002109_abnormal_limb_morphology2.08024559
26MP0006072_abnormal_retinal_apoptosis2.06157556
27MP0005248_abnormal_Harderian_gland2.05612013
28MP0000049_abnormal_middle_ear2.03317338
29MP0001293_anophthalmia2.00109061
30MP0002116_abnormal_craniofacial_bone1.96486882
31MP0001968_abnormal_touch/_nociception1.96005428
32MP0002653_abnormal_ependyma_morphology1.93626671
33MP0008438_abnormal_cutaneous_collagen1.93315733
34* MP0001963_abnormal_hearing_physiology1.92334199
35* MP0005390_skeleton_phenotype1.90080780
36MP0003755_abnormal_palate_morphology1.88047182
37MP0002909_abnormal_adrenal_gland1.86525601
38MP0003880_abnormal_central_pattern1.86388119
39MP0004272_abnormal_basement_membrane1.86048570
40MP0000631_abnormal_neuroendocrine_gland1.84223323
41MP0005551_abnormal_eye_electrophysiolog1.83125315
42MP0000778_abnormal_nervous_system1.79941476
43MP0003283_abnormal_digestive_organ1.78744665
44MP0010030_abnormal_orbit_morphology1.77421751
45MP0002249_abnormal_larynx_morphology1.77086136
46MP0002233_abnormal_nose_morphology1.75771866
47MP0005253_abnormal_eye_physiology1.71475158
48MP0003795_abnormal_bone_structure1.67900225
49MP0001486_abnormal_startle_reflex1.66156767
50MP0004133_heterotaxia1.65987378
51* MP0000026_abnormal_inner_ear1.63388668
52MP0002102_abnormal_ear_morphology1.62119862
53MP0005275_abnormal_skin_tensile1.60998904
54MP0005646_abnormal_pituitary_gland1.57714977
55MP0003942_abnormal_urinary_system1.57368717
56MP0004142_abnormal_muscle_tone1.55763334
57MP0009745_abnormal_behavioral_response1.52489116
58MP0008789_abnormal_olfactory_epithelium1.52417307
59MP0003705_abnormal_hypodermis_morpholog1.51573300
60MP0000432_abnormal_head_morphology1.50146431
61* MP0001533_abnormal_skeleton_physiology1.49929198
62MP0002272_abnormal_nervous_system1.48707882
63MP0001529_abnormal_vocalization1.48511806
64MP0003878_abnormal_ear_physiology1.48450509
65MP0005377_hearing/vestibular/ear_phenot1.48450509
66MP0003787_abnormal_imprinting1.47138592
67MP0000751_myopathy1.41100452
68MP0000566_synostosis1.40158319
69MP0002111_abnormal_tail_morphology1.38129311
70MP0004147_increased_porphyrin_level1.34283924
71MP0004742_abnormal_vestibular_system1.34175961
72MP0001984_abnormal_olfaction1.33963893
73MP0002932_abnormal_joint_morphology1.33280805
74MP0003935_abnormal_craniofacial_develop1.32703666
75MP0006276_abnormal_autonomic_nervous1.32245333
76MP0002108_abnormal_muscle_morphology1.31119036
77MP0003937_abnormal_limbs/digits/tail_de1.28852422
78MP0001485_abnormal_pinna_reflex1.28756433
79MP0005391_vision/eye_phenotype1.28050440
80MP0003656_abnormal_erythrocyte_physiolo1.27434798
81MP0002734_abnormal_mechanical_nocicepti1.26881336
82MP0009379_abnormal_foot_pigmentation1.26664307
83MP0001542_abnormal_bone_strength1.25946541
84MP0003567_abnormal_fetal_cardiomyocyte1.25854981
85MP0003938_abnormal_ear_development1.24925602
86MP0002638_abnormal_pupillary_reflex1.22937950
87MP0009046_muscle_twitch1.22601120
88MP0005195_abnormal_posterior_eye1.21976336
89MP0002697_abnormal_eye_size1.21498164
90MP0002114_abnormal_axial_skeleton1.21483954
91MP0002751_abnormal_autonomic_nervous1.17787570
92MP0002837_dystrophic_cardiac_calcinosis1.17513668
93MP0005423_abnormal_somatic_nervous1.16911880
94MP0003635_abnormal_synaptic_transmissio1.15753909
95MP0005499_abnormal_olfactory_system1.15037453
96MP0005394_taste/olfaction_phenotype1.15037453
97MP0002572_abnormal_emotion/affect_behav1.14710266
98MP0004197_abnormal_fetal_growth/weight/1.13778191
99MP0003941_abnormal_skin_development1.12918489
100MP0002752_abnormal_somatic_nervous1.10984322
101MP0003122_maternal_imprinting1.09966937
102MP0002163_abnormal_gland_morphology1.09841676
103MP0000534_abnormal_ureter_morphology1.09652136
104MP0003385_abnormal_body_wall1.08790416
105MP0002064_seizures1.08395633
106MP0002557_abnormal_social/conspecific_i1.07997258
107MP0003693_abnormal_embryo_hatching1.06761636
108MP0008058_abnormal_DNA_repair1.04935271
109MP0002063_abnormal_learning/memory/cond1.04561372
110MP0003121_genomic_imprinting1.03547955
111MP0001286_abnormal_eye_development1.03283999
112MP0002735_abnormal_chemical_nociception1.03101959
113MP0003861_abnormal_nervous_system1.01683125
114MP0005023_abnormal_wound_healing1.01134333
115MP0003890_abnormal_embryonic-extraembry1.01006342
116MP0003698_abnormal_male_reproductive1.00158743
117MP0009053_abnormal_anal_canal0.98631969
118MP0002210_abnormal_sex_determination0.98586961
119MP0000955_abnormal_spinal_cord0.97329811
120MP0000428_abnormal_craniofacial_morphol0.96611281
121MP0008872_abnormal_physiological_respon0.95651524
122MP0002998_abnormal_bone_remodeling0.95388490
123MP0005381_digestive/alimentary_phenotyp0.95263515
124MP0005410_abnormal_fertilization0.94691445
125MP0010094_abnormal_chromosome_stability0.93872003
126MP0004215_abnormal_myocardial_fiber0.93792939
127MP0001929_abnormal_gametogenesis0.93021402
128MP0003279_aneurysm0.91439346
129MP0002067_abnormal_sensory_capabilities0.90872426
130MP0001970_abnormal_pain_threshold0.90717835
131MP0003137_abnormal_impulse_conducting0.90645125
132MP0005645_abnormal_hypothalamus_physiol0.90079774
133MP0002733_abnormal_thermal_nociception0.89511213
134MP0001663_abnormal_digestive_system0.89076995
135MP0008995_early_reproductive_senescence0.86221107
136MP0003566_abnormal_cell_adhesion0.84813899
137MP0005171_absent_coat_pigmentation0.84687511
138MP0002152_abnormal_brain_morphology0.83784635
139MP0005623_abnormal_meninges_morphology0.81355340
140MP0005076_abnormal_cell_differentiation0.78523745
141MP0000462_abnormal_digestive_system0.77841283
142MP0003119_abnormal_digestive_system0.75288395
143MP0004084_abnormal_cardiac_muscle0.75204967
144MP0003011_delayed_dark_adaptation0.68920587
145MP0001346_abnormal_lacrimal_gland0.68728112
146MP0000516_abnormal_urinary_system0.68156432
147MP0005367_renal/urinary_system_phenotyp0.68156432
148MP0008004_abnormal_stomach_pH0.67786732
149MP0001958_emphysema0.66852606
150MP0003091_abnormal_cell_migration0.66518320
151MP0000537_abnormal_urethra_morphology0.66325706
152MP0002098_abnormal_vibrissa_morphology0.65253190
153MP0001943_abnormal_respiration0.64544836
154MP0003436_decreased_susceptibility_to0.64148776
155MP0004885_abnormal_endolymph0.61463738
156MP0004484_altered_response_of0.59703542
157MP0000343_altered_response_to0.57666988
158MP0002234_abnormal_pharynx_morphology0.57321935
159MP0001340_abnormal_eyelid_morphology0.55715059
160MP0005193_abnormal_anterior_eye0.48915456
161MP0000733_abnormal_muscle_development0.48286701
162MP0000377_abnormal_hair_follicle0.47128844
163MP0001177_atelectasis0.46532479
164MP0003195_calcinosis0.46183295
165MP0000383_abnormal_hair_follicle0.45034639
166MP0004264_abnormal_extraembryonic_tissu0.43821044
167MP0010678_abnormal_skin_adnexa0.43817362
168MP0000465_gastrointestinal_hemorrhage0.43395640

Predicted human phenotypes

RankGene SetZ-score
1Irregular epiphyses (HP:0010582)9.73900885
2Vitreoretinal degeneration (HP:0000655)8.61386250
3Hypoplastic ischia (HP:0003175)7.33502699
4Small epiphyses (HP:0010585)6.79339353
5Abnormality of the ischium (HP:0003174)6.48268480
6Aplasia/Hypoplasia of the pubic bone (HP:0009104)6.34766530
7Cupped ribs (HP:0000887)5.89623937
8Abnormal tarsal ossification (HP:0008369)5.58588333
9Delayed epiphyseal ossification (HP:0002663)5.30625193
10Flat capital femoral epiphysis (HP:0003370)5.14986323
11Flat acetabular roof (HP:0003180)4.96502115
12* Genu varum (HP:0002970)4.76119487
13Mild short stature (HP:0003502)4.71327163
14Flattened epiphyses (HP:0003071)4.70499708
15Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)4.56149035
16Absent epiphyses (HP:0010577)4.56149035
17Abnormality involving the epiphyses of the lower limbs (HP:0006500)4.39195844
18Abnormality of femoral epiphyses (HP:0006499)4.39195844
19Metaphyseal cupping (HP:0003021)4.22948343
20Neonatal short-limb short stature (HP:0008921)4.13880640
21Abnormal foot bone ossification (HP:0010675)4.10247884
22Abnormality of the epiphysis of the femoral head (HP:0010574)3.95420416
23Arthropathy (HP:0003040)3.94583773
24* Osteoarthritis (HP:0002758)3.83637889
25Abnormality of the pubic bones (HP:0003172)3.72928466
26Metaphyseal dysplasia (HP:0100255)3.65840186
27Abnormality of the femoral head (HP:0003368)3.63807421
28Short femoral neck (HP:0100864)3.57678549
29True hermaphroditism (HP:0010459)3.56237013
30Protuberant abdomen (HP:0001538)3.53494714
31Enlarged epiphyses (HP:0010580)3.53436295
32Irregular vertebral endplates (HP:0003301)3.34696615
33Pancreatic fibrosis (HP:0100732)3.32204106
34Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)3.28077057
35Septo-optic dysplasia (HP:0100842)3.26864230
36Metaphyseal irregularity (HP:0003025)3.24597170
37Pancreatic cysts (HP:0001737)3.24587083
38Molar tooth sign on MRI (HP:0002419)3.23827632
39Abnormality of midbrain morphology (HP:0002418)3.23827632
40Vertebral clefting (HP:0008428)3.16442275
41* Abnormality of the vertebral endplates (HP:0005106)3.15230948
42Abnormal vertebral ossification (HP:0100569)3.10664194
43Coxa vara (HP:0002812)3.04802262
44Cervical subluxation (HP:0003308)2.99817460
45* Platyspondyly (HP:0000926)2.99143250
46Nephronophthisis (HP:0000090)2.95179050
47Abnormality of the phalanges of the 2nd finger (HP:0009541)2.94601084
48Exostoses (HP:0100777)2.94399226
49Abnormality of carpal bone ossification (HP:0006257)2.90536602
50Abnormality of the proximal phalanges of the hand (HP:0009834)2.85711304
51Abnormality of the labia minora (HP:0012880)2.82774203
52Barrel-shaped chest (HP:0001552)2.80248615
53Glossoptosis (HP:0000162)2.78710594
54Waddling gait (HP:0002515)2.76236614
55Congenital stationary night blindness (HP:0007642)2.73936347
56Thoracolumbar scoliosis (HP:0002944)2.73218338
57Beaking of vertebral bodies (HP:0004568)2.68317939
58Optic nerve hypoplasia (HP:0000609)2.67110930
59Limited elbow extension (HP:0001377)2.66449987
60Anophthalmia (HP:0000528)2.66263791
61Mixed hearing impairment (HP:0000410)2.61433168
62Pendular nystagmus (HP:0012043)2.61284627
63Abnormality of incisor morphology (HP:0011063)2.60070692
64Aplasia/hypoplasia of the femur (HP:0005613)2.59357685
65Anencephaly (HP:0002323)2.58967462
66Absent frontal sinuses (HP:0002688)2.58159417
67Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.57963418
68Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.56486377
69Limited hip movement (HP:0008800)2.56446064
70Type II lissencephaly (HP:0007260)2.55729116
71Colon cancer (HP:0003003)2.55111502
72Thin ribs (HP:0000883)2.54694245
73Ovoid vertebral bodies (HP:0003300)2.53182968
74Sclerocornea (HP:0000647)2.50575182
75Lumbar hyperlordosis (HP:0002938)2.48377443
76Abnormality of the renal medulla (HP:0100957)2.46740145
77Chronic hepatic failure (HP:0100626)2.45746742
78Carpal bone hypoplasia (HP:0001498)2.42269494
79Hip contracture (HP:0003273)2.40287073
80Attenuation of retinal blood vessels (HP:0007843)2.38994585
81Stillbirth (HP:0003826)2.37999641
82Abnormal hand bone ossification (HP:0010660)2.37779583
83Meckel diverticulum (HP:0002245)2.34079858
84Bilateral microphthalmos (HP:0007633)2.32735071
85Absent septum pellucidum (HP:0001331)2.31733390
86Long clavicles (HP:0000890)2.31381871
87Abnormality of the ileum (HP:0001549)2.31369466
88Fibular hypoplasia (HP:0003038)2.30750808
89Hypoplasia of the odontoid process (HP:0003311)2.30122796
90Abnormal ossification of hand bones (HP:0005921)2.29745071
91Medial flaring of the eyebrow (HP:0010747)2.27834225
92* Abnormality of the vitreous humor (HP:0004327)2.27101295
93Mesomelia (HP:0003027)2.26966683
94Congenital, generalized hypertrichosis (HP:0004540)2.26674745
95Spinal cord compression (HP:0002176)2.25694845
96Aplasia/Hypoplasia of the uvula (HP:0010293)2.24561669
97Abnormality of the 2nd finger (HP:0004100)2.23598741
98Hypoplastic ilia (HP:0000946)2.23348275
99Vertebral hypoplasia (HP:0008417)2.21489146
100Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.21489146
101Preaxial foot polydactyly (HP:0001841)2.20218616
102Hyperalaninemia (HP:0003348)2.19516139
103Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.19516139
104Abnormality of alanine metabolism (HP:0010916)2.19516139
105Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.19414947
106Short hallux (HP:0010109)2.19018130
107* Micromelia (HP:0002983)2.16485535
108Aplasia/Hypoplasia of the hallux (HP:0008362)2.15696943
109Abolished electroretinogram (ERG) (HP:0000550)2.15456444
110Intestinal atresia (HP:0011100)2.15364939
111Hypoplastic pelvis (HP:0008839)2.15307656
112Reticulocytopenia (HP:0001896)2.14586150
113Rib fusion (HP:0000902)2.14141674
114Genital tract atresia (HP:0001827)2.13817006
115Rhizomelia (HP:0008905)2.13716333
116Aplasia/Hypoplasia of the sternum (HP:0006714)2.11877727
117Maternal diabetes (HP:0009800)2.11098291
118Cerebellar dysplasia (HP:0007033)2.11013746
119Abnormality of the lumbar spine (HP:0100712)2.10780502
120Gastrointestinal atresia (HP:0002589)2.06933300
121Short middle phalanx of finger (HP:0005819)2.05463439
122Flared metaphyses (HP:0003015)2.05117907
123Hyperventilation (HP:0002883)2.04360963
124Broad phalanx (HP:0006009)2.03949717
125Vaginal atresia (HP:0000148)2.03648512
126Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.02470088
127* Epiphyseal dysplasia (HP:0002656)10.1469278
128Radial bowing (HP:0002986)1.99956248
129Oligodactyly (hands) (HP:0001180)1.99070761
130Abnormality of the septum pellucidum (HP:0007375)1.98837762
131Abnormality of the phalanges of the 5th finger (HP:0004213)1.98004625
132Chromosomal breakage induced by crosslinking agents (HP:0003221)1.96743162
133Disproportionate short-trunk short stature (HP:0003521)1.96385504
134Patellar aplasia (HP:0006443)1.95777791
135Abnormal lung lobation (HP:0002101)1.95295038
136Chorioretinal atrophy (HP:0000533)1.95205059
137Retinal dysplasia (HP:0007973)1.94601993
138Esophageal atresia (HP:0002032)1.94315694
139Short 4th metacarpal (HP:0010044)1.94251778
140Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.94251778
141Dynein arm defect of respiratory motile cilia (HP:0012255)1.94134972
142Absent/shortened dynein arms (HP:0200106)1.94134972
143Hemiparesis (HP:0001269)1.93713028
144Aplasia/Hypoplasia of the tongue (HP:0010295)1.93585963
145Cystic liver disease (HP:0006706)1.93577282
146Midline defect of the nose (HP:0004122)1.93509701
147Birth length less than 3rd percentile (HP:0003561)1.91709769
148Broad long bones (HP:0005622)1.91502028
149Gait imbalance (HP:0002141)1.91493099
150Ulnar bowing (HP:0003031)1.91189438
151Hyperglycinemia (HP:0002154)1.91001339
152Abnormality of the acetabulum (HP:0003170)1.90607821
153Lissencephaly (HP:0001339)1.90544645
154Ectopic kidney (HP:0000086)1.90349010
155Relative macrocephaly (HP:0004482)1.90128541
156Short ribs (HP:0000773)1.89867002
157Postaxial hand polydactyly (HP:0001162)1.89677388
158Sprengel anomaly (HP:0000912)1.89629239
159Abnormality of the odontoid process (HP:0003310)1.89192760
160Postaxial foot polydactyly (HP:0001830)1.87085115
161Acute necrotizing encephalopathy (HP:0006965)1.85796502
162Male pseudohermaphroditism (HP:0000037)1.85761041
163Abnormal respiratory epithelium morphology (HP:0012253)1.85422342
164Abnormal respiratory motile cilium morphology (HP:0005938)1.85422342
165Aplasia/Hypoplasia involving the vertebral column (HP:0008518)1.84697826
166Aplasia/Hypoplasia of the patella (HP:0006498)1.83677582
167Focal motor seizures (HP:0011153)1.82885001
168Holoprosencephaly (HP:0001360)1.82005397
169Broad thumb (HP:0011304)1.81659545
170Triphalangeal thumb (HP:0001199)1.81474389
171Congenital primary aphakia (HP:0007707)1.80932624
172Supernumerary spleens (HP:0009799)1.80522238
173Dandy-Walker malformation (HP:0001305)1.80384879
174Abnormality of the 4th metacarpal (HP:0010012)1.79605571
175Bell-shaped thorax (HP:0001591)1.78371237
176Preaxial hand polydactyly (HP:0001177)1.76455980
177Broad-based gait (HP:0002136)1.76049715
178Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.75827792
179Abnormality of the middle phalanges of the toes (HP:0010183)1.75660455
180Abnormality of the renal collecting system (HP:0004742)1.74535671
181Increased corneal curvature (HP:0100692)1.74216417
182Keratoconus (HP:0000563)1.74216417
183Morphological abnormality of the inner ear (HP:0011390)1.74203933
184Bony spicule pigmentary retinopathy (HP:0007737)1.73845164
185Abnormality of the renal cortex (HP:0011035)1.72433757
186Synostosis of carpal bones (HP:0005048)1.71748294
187Tubular atrophy (HP:0000092)1.71196073
188Renal hypoplasia (HP:0000089)1.71144633
189Limb dystonia (HP:0002451)1.70218397
190Abnormality of the carotid arteries (HP:0005344)1.70208677
191Duplicated collecting system (HP:0000081)1.69897375
192* Genu valgum (HP:0002857)1.68691703
193Hemivertebrae (HP:0002937)1.67454155
194Aplasia/Hypoplasia of the tibia (HP:0005772)1.67121256
195Abnormal ciliary motility (HP:0012262)1.67018571

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K35.20270289
2STK38L4.11748436
3STK243.39244252
4NME13.19608972
5LATS12.92151356
6ZAK2.88774999
7WNK32.78716922
8PRKG22.73227888
9PNCK2.62021466
10CDC72.40590832
11FRK2.39757682
12CASK2.28433308
13ERBB32.24958145
14TNIK2.16711587
15SIK12.05897447
16MAPK152.04084698
17TAF12.02927544
18PLK42.01511910
19DDR211.5668666
20MAP4K21.99432268
21MST41.97348913
22VRK21.92458362
23WEE11.91179626
24VRK11.90186180
25TRPM71.89505658
26ADRBK21.89443908
27BMPR1B1.85742380
28DYRK21.83028216
29INSRR1.76103238
30STK31.73784231
31BUB11.69859670
32MAPK131.63411646
33NEK21.59676291
34TRIB31.58217894
35NTRK21.57120174
36EPHA41.55668203
37PLK21.52493556
38GRK11.44559789
39FGFR21.43048932
40MAP3K41.42039766
41NUAK11.39550057
42TLK11.33087670
43ACVR1B1.30461256
44OXSR11.28477464
45BRSK21.23959770
46PINK11.20628137
47MARK11.18891572
48PKN21.14012988
49WNK41.12816886
50MKNK21.12801315
51DYRK1A1.08601850
52UHMK11.06140348
53PRKD31.04505893
54TTK1.04320116
55PRKCG1.01403061
56TIE11.01018095
57STK390.99952693
58EPHA30.96598016
59TAOK10.96413042
60PIM20.95892298
61TSSK60.93376785
62PLK10.91301385
63SRPK10.90255626
64MET0.88754255
65DYRK30.84275891
66EPHB20.82333251
67PKN10.80740256
68CDK30.78351297
69TYRO30.78321244
70NME20.77816042
71MAP2K70.76788730
72EPHA20.75753382
73MKNK10.75066041
74ADRBK10.73384636
75TRIM280.72888565
76STK110.70037929
77CCNB10.69445324
78FGFR10.69203978
79ATR0.68159820
80GSK3A0.68036229
81NEK10.67630225
82CSNK1G20.66913972
83CHEK20.66792616
84MAPK70.65555012
85CAMK10.64899877
86BCKDK0.64785555
87ROCK10.64596142
88PIK3CA0.63669119
89EPHB10.62078217
90PDK20.61987884
91NEK60.61485020
92CAMK1G0.60707173
93CSNK1A1L0.59837436
94EIF2AK30.58965071
95DAPK20.58964965
96LATS20.56718059
97NTRK30.56092284
98MAPK120.55821313
99CAMK2A0.55221909
100CDK190.54409810
101MAPKAPK50.53030275
102AURKB0.51539350
103PTK60.47449749
104KSR10.47233710
105FGFR30.46166783
106FER0.45837128
107CAMKK20.44766999
108OBSCN0.43928284
109BCR0.43232732
110DYRK1B0.43111289
111ATM0.41772244
112CSNK1A10.41467008
113MAPK40.40934935
114PRKACA0.40812290
115CSNK1G10.40588029
116MINK10.39136055
117IRAK10.38832497
118PBK0.38655959
119CDK60.37723733
120NLK0.36831367
121BRSK10.33764098
122CSNK1E0.33209323
123BMX0.33014075
124RPS6KA50.32890111
125PLK30.32663105
126MARK30.32469384
127PRKCZ0.31816289
128PAK30.31600947
129TGFBR10.31114002
130MUSK0.31041384
131ERBB20.30914479
132CSNK1D0.30550136
133PDGFRB0.29245824
134NTRK10.26027198
135TAOK20.25491690
136PTK20.25351175
137PTK2B0.24782907
138TGFBR20.24404908
139LRRK20.23322234
140RET0.21742231
141RIPK10.21602554
142PIM10.21525318
143CAMKK10.21459727
144PAK40.21390380
145WNK10.20328427
146PRKCI0.20286043
147BMPR20.20136943
148MAP2K30.19364013
149ROCK20.19119042
150LIMK10.18977405
151ABL10.18519890
152PAK20.17960972
153PRKCH0.17837649
154CSF1R0.17257462
155PRKCE0.17021005
156IGF1R0.16980673
157PDGFRA0.16654303
158PRKG10.16060567
159TESK10.16013169
160CSNK1G30.15175391
161MAP3K110.14836952
162ILK0.14691958
163SGK10.14455580
164MAPK100.14189723
165MAP3K100.13985701
166MAPK10.13090336
167PRKACG0.11831874
168PASK0.11568970
169CHUK0.11405984
170PRKCD0.10851821
171MATK0.10771805
172MAPK30.10277707
173CAMK1D0.09613772

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005326.88656817
2* ECM-receptor interaction_Homo sapiens_hsa045125.86522134
3* Protein digestion and absorption_Homo sapiens_hsa049745.83973003
4Nicotine addiction_Homo sapiens_hsa050332.53976860
5Oxidative phosphorylation_Homo sapiens_hsa001902.51957330
6Homologous recombination_Homo sapiens_hsa034402.44997970
7Fanconi anemia pathway_Homo sapiens_hsa034602.39436047
8* Focal adhesion_Homo sapiens_hsa045102.36649162
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.34674393
10Phototransduction_Homo sapiens_hsa047442.32931730
11Sulfur metabolism_Homo sapiens_hsa009202.30090913
12TGF-beta signaling pathway_Homo sapiens_hsa043502.28435375
13Basal cell carcinoma_Homo sapiens_hsa052172.17769394
14Parkinsons disease_Homo sapiens_hsa050122.14250185
15Sphingolipid metabolism_Homo sapiens_hsa006002.04735738
16Hippo signaling pathway_Homo sapiens_hsa043902.04393706
17Ribosome_Homo sapiens_hsa030102.01022856
18Basal transcription factors_Homo sapiens_hsa030221.89583100
19Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.87256270
20Cardiac muscle contraction_Homo sapiens_hsa042601.85987742
21Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.84438708
22Nitrogen metabolism_Homo sapiens_hsa009101.81154104
23Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.76342253
24Mismatch repair_Homo sapiens_hsa034301.75183959
25Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.74846551
26Steroid biosynthesis_Homo sapiens_hsa001001.70542240
27Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.69792676
28Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.68499736
29Linoleic acid metabolism_Homo sapiens_hsa005911.68158536
30* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.66228097
31Hedgehog signaling pathway_Homo sapiens_hsa043401.65885258
32Huntingtons disease_Homo sapiens_hsa050161.65123876
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.63817233
34RNA polymerase_Homo sapiens_hsa030201.60055956
35Proteoglycans in cancer_Homo sapiens_hsa052051.59063254
36Butanoate metabolism_Homo sapiens_hsa006501.58473233
37Morphine addiction_Homo sapiens_hsa050321.55643105
38Taste transduction_Homo sapiens_hsa047421.51093419
39Malaria_Homo sapiens_hsa051441.50004131
40alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.49064325
41RNA degradation_Homo sapiens_hsa030181.47107048
42DNA replication_Homo sapiens_hsa030301.41925013
43Olfactory transduction_Homo sapiens_hsa047401.39286227
44Starch and sucrose metabolism_Homo sapiens_hsa005001.37606757
45Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.35640017
46Alzheimers disease_Homo sapiens_hsa050101.33751670
47Wnt signaling pathway_Homo sapiens_hsa043101.33009191
48Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.30957611
49Maturity onset diabetes of the young_Homo sapiens_hsa049501.26708977
50GABAergic synapse_Homo sapiens_hsa047271.26197224
51Sulfur relay system_Homo sapiens_hsa041221.20932009
52Tryptophan metabolism_Homo sapiens_hsa003801.19966397
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.19744764
54Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.19688613
55Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.19150233
56Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.19112077
57Propanoate metabolism_Homo sapiens_hsa006401.19099415
58Other glycan degradation_Homo sapiens_hsa005111.18419800
59Protein export_Homo sapiens_hsa030601.18210430
60One carbon pool by folate_Homo sapiens_hsa006701.16627988
61Glutamatergic synapse_Homo sapiens_hsa047241.13655022
62Ether lipid metabolism_Homo sapiens_hsa005651.13199879
63Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.09095495
64Nucleotide excision repair_Homo sapiens_hsa034201.04010280
65Spliceosome_Homo sapiens_hsa030401.02324611
66Pentose and glucuronate interconversions_Homo sapiens_hsa000401.00906497
67Caffeine metabolism_Homo sapiens_hsa002321.00290329
68Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.99701665
69Base excision repair_Homo sapiens_hsa034100.96620438
70Lysine degradation_Homo sapiens_hsa003100.96461463
71Purine metabolism_Homo sapiens_hsa002300.94835251
72Melanogenesis_Homo sapiens_hsa049160.93706026
73Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.93678334
74Adherens junction_Homo sapiens_hsa045200.93205076
75Insulin secretion_Homo sapiens_hsa049110.91021189
76Non-homologous end-joining_Homo sapiens_hsa034500.90553946
77Selenocompound metabolism_Homo sapiens_hsa004500.88810761
78Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.87694971
79Serotonergic synapse_Homo sapiens_hsa047260.86655457
80Ovarian steroidogenesis_Homo sapiens_hsa049130.85820551
81Cysteine and methionine metabolism_Homo sapiens_hsa002700.85524129
82Retinol metabolism_Homo sapiens_hsa008300.84401012
83AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.84182093
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.83472174
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.83145626
86Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.82989723
87Chemical carcinogenesis_Homo sapiens_hsa052040.81874437
88Arginine and proline metabolism_Homo sapiens_hsa003300.81854087
89Vibrio cholerae infection_Homo sapiens_hsa051100.81704964
90Proteasome_Homo sapiens_hsa030500.78814928
91Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.76119373
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.75400092
93RNA transport_Homo sapiens_hsa030130.74779226
94cGMP-PKG signaling pathway_Homo sapiens_hsa040220.73166146
95Bladder cancer_Homo sapiens_hsa052190.71879197
96Dilated cardiomyopathy_Homo sapiens_hsa054140.70088308
97Peroxisome_Homo sapiens_hsa041460.69570874
98Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.68671561
99Cell cycle_Homo sapiens_hsa041100.68059982
100Long-term depression_Homo sapiens_hsa047300.67608283
101Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.66129717
102Colorectal cancer_Homo sapiens_hsa052100.65715406
103Prostate cancer_Homo sapiens_hsa052150.63737176
104Renal cell carcinoma_Homo sapiens_hsa052110.62990833
105Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.62945499
106Galactose metabolism_Homo sapiens_hsa000520.61888373
107Steroid hormone biosynthesis_Homo sapiens_hsa001400.60995336
108Amphetamine addiction_Homo sapiens_hsa050310.60269456
109N-Glycan biosynthesis_Homo sapiens_hsa005100.59811404
110Calcium signaling pathway_Homo sapiens_hsa040200.58944680
111Axon guidance_Homo sapiens_hsa043600.57221417
112Phagosome_Homo sapiens_hsa041450.56436924
113Dopaminergic synapse_Homo sapiens_hsa047280.56312475
114cAMP signaling pathway_Homo sapiens_hsa040240.56114799
115MicroRNAs in cancer_Homo sapiens_hsa052060.55243798
116Metabolic pathways_Homo sapiens_hsa011000.54704837
117Vitamin digestion and absorption_Homo sapiens_hsa049770.53947361
118Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53102091
119Amoebiasis_Homo sapiens_hsa051460.52232834
120HIF-1 signaling pathway_Homo sapiens_hsa040660.52057576
121Thyroid hormone synthesis_Homo sapiens_hsa049180.51504511
122Histidine metabolism_Homo sapiens_hsa003400.50604754
123Gap junction_Homo sapiens_hsa045400.49577589
124Central carbon metabolism in cancer_Homo sapiens_hsa052300.48770096
125Primary bile acid biosynthesis_Homo sapiens_hsa001200.48075166
126Fat digestion and absorption_Homo sapiens_hsa049750.47334727
127Pyrimidine metabolism_Homo sapiens_hsa002400.47122658
128Salivary secretion_Homo sapiens_hsa049700.46879509
129Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46840697
130Glycerolipid metabolism_Homo sapiens_hsa005610.45463975
131SNARE interactions in vesicular transport_Homo sapiens_hsa041300.45306486
132Thyroid cancer_Homo sapiens_hsa052160.45300350
133Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.45275848
134Pathways in cancer_Homo sapiens_hsa052000.43896760
135Collecting duct acid secretion_Homo sapiens_hsa049660.42244659
136Oocyte meiosis_Homo sapiens_hsa041140.42233927
137Dorso-ventral axis formation_Homo sapiens_hsa043200.41752145
138ABC transporters_Homo sapiens_hsa020100.40914255
139Chronic myeloid leukemia_Homo sapiens_hsa052200.40825410
140Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.40746021
141Vascular smooth muscle contraction_Homo sapiens_hsa042700.40687009
142mTOR signaling pathway_Homo sapiens_hsa041500.39881170
143Phenylalanine metabolism_Homo sapiens_hsa003600.39568509
144Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.38788217
145Pyruvate metabolism_Homo sapiens_hsa006200.38319044
146HTLV-I infection_Homo sapiens_hsa051660.38074806
147Pancreatic cancer_Homo sapiens_hsa052120.37291455
148ErbB signaling pathway_Homo sapiens_hsa040120.36714400
149Insulin resistance_Homo sapiens_hsa049310.36658135
150Small cell lung cancer_Homo sapiens_hsa052220.36521801
151Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.34357095
152Hepatitis B_Homo sapiens_hsa051610.34242304
153Melanoma_Homo sapiens_hsa052180.33615506
154Neurotrophin signaling pathway_Homo sapiens_hsa047220.33528387
155Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.32848678
156Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.32544106
157Endometrial cancer_Homo sapiens_hsa052130.32336836
158Tight junction_Homo sapiens_hsa045300.32093590
159Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.31442388
160Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30447085
161Glioma_Homo sapiens_hsa052140.30226528
162Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.30171825
163Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.29810128
164Oxytocin signaling pathway_Homo sapiens_hsa049210.29133135
165Regulation of actin cytoskeleton_Homo sapiens_hsa048100.26822463
166Circadian entrainment_Homo sapiens_hsa047130.25658741
167Cocaine addiction_Homo sapiens_hsa050300.25159971
168Fatty acid biosynthesis_Homo sapiens_hsa000610.24995267
169Rap1 signaling pathway_Homo sapiens_hsa040150.24742923
170Aldosterone synthesis and secretion_Homo sapiens_hsa049250.24726498
171Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.22584515
172Arachidonic acid metabolism_Homo sapiens_hsa005900.22003426
173Estrogen signaling pathway_Homo sapiens_hsa049150.21334060
174Platelet activation_Homo sapiens_hsa046110.20869048
175Folate biosynthesis_Homo sapiens_hsa007900.18400562
176Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.18234537

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