CRYBA1

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: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA strand renaturation (GO:0000733)9.56475036
2* visual perception (GO:0007601)9.38326896
3* sensory perception of light stimulus (GO:0050953)9.27920736
4heparin metabolic process (GO:0030202)8.73702061
5heparin biosynthetic process (GO:0030210)8.73702061
6camera-type eye development (GO:0043010)8.65558849
7cytolysis (GO:0019835)8.24914387
8histone H3-K9 demethylation (GO:0033169)8.06181019
9muscle cell cellular homeostasis (GO:0046716)7.82895068
10protein refolding (GO:0042026)7.73152209
11regulation of protein sumoylation (GO:0033233)7.15029580
12eye development (GO:0001654)7.04074469
13bile acid and bile salt transport (GO:0015721)6.87569588
14cellular response to osmotic stress (GO:0071470)6.78896753
15translesion synthesis (GO:0019985)6.59690543
16myofibril assembly (GO:0030239)6.29872130
17negative regulation of translation involved in gene silencing by miRNA (GO:0035278)6.05499538
18negative regulation of translation, ncRNA-mediated (GO:0040033)6.05499538
19regulation of translation, ncRNA-mediated (GO:0045974)6.05499538
20replication fork processing (GO:0031297)5.92918894
21negative regulation of DNA repair (GO:0045738)5.65862665
22sensory organ development (GO:0007423)5.40817477
23positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)5.16315242
24cellular response to interleukin-15 (GO:0071350)5.09868112
25negative regulation of homotypic cell-cell adhesion (GO:0034111)5.01178478
26reciprocal meiotic recombination (GO:0007131)4.94194861
27reciprocal DNA recombination (GO:0035825)4.94194861
28lateral sprouting from an epithelium (GO:0060601)4.93061331
29response to salt stress (GO:0009651)4.88795573
30interferon-gamma secretion (GO:0072643)4.81955392
31insulin-like growth factor receptor signaling pathway (GO:0048009)4.65968372
32transcription from mitochondrial promoter (GO:0006390)4.65674037
33heparan sulfate proteoglycan biosynthetic process (GO:0015012)4.62839730
34cell wall macromolecule catabolic process (GO:0016998)4.61061453
35sarcomere organization (GO:0045214)4.45408771
36* sensory perception (GO:0007600)4.35837573
37postreplication repair (GO:0006301)4.33625376
38regulation of myoblast differentiation (GO:0045661)4.31486769
39regulation of protein polyubiquitination (GO:1902914)4.30448393
40rRNA methylation (GO:0031167)4.24764546
41maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)4.04024435
42mitotic sister chromatid segregation (GO:0000070)4.01035010
43* lens development in camera-type eye (GO:0002088)34.7965961
44chromatin remodeling at centromere (GO:0031055)3.97380833
45sister chromatid segregation (GO:0000819)3.91571335
46positive regulation of dendritic spine morphogenesis (GO:0061003)3.88589673
47meiotic chromosome segregation (GO:0045132)3.88411036
48cell wall macromolecule metabolic process (GO:0044036)3.87872451
49viral mRNA export from host cell nucleus (GO:0046784)3.83232571
50protein homotrimerization (GO:0070207)3.80391277
51DNA damage response, detection of DNA damage (GO:0042769)3.75117931
52neural tube formation (GO:0001841)3.71526402
53negative regulation of DNA recombination (GO:0045910)3.70829381
54rRNA modification (GO:0000154)3.70617464
55CENP-A containing nucleosome assembly (GO:0034080)3.68532632
56regulation of platelet aggregation (GO:0090330)3.67517141
57nonmotile primary cilium assembly (GO:0035058)3.65746815
58response to interleukin-15 (GO:0070672)3.59010978
59regulation of Rac protein signal transduction (GO:0035020)3.56358367
60synapsis (GO:0007129)3.54182000
61lung epithelium development (GO:0060428)3.53957823
62positive regulation of gastrulation (GO:2000543)3.51768009
63protein K6-linked ubiquitination (GO:0085020)3.47171082
64negative regulation of DNA-dependent DNA replication (GO:2000104)3.46207288
65DNA double-strand break processing (GO:0000729)3.42049909
66water transport (GO:0006833)3.38436803
67recombinational repair (GO:0000725)3.36902603
68regulation of skeletal muscle fiber development (GO:0048742)3.35296038
69negative regulation of smooth muscle cell differentiation (GO:0051151)3.33821006
70double-strand break repair via homologous recombination (GO:0000724)3.31870195
71protein heterotetramerization (GO:0051290)3.28783225
72ubiquinone biosynthetic process (GO:0006744)3.27874394
73proteasome assembly (GO:0043248)3.24765437
74positive regulation of calcium ion transport into cytosol (GO:0010524)3.23863832
75histone exchange (GO:0043486)3.20337529
76positive regulation of wound healing (GO:0090303)3.13805742
77cellular response to calcium ion (GO:0071277)3.11600992
78positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)3.08426249
79positive regulation of cell cycle G2/M phase transition (GO:1902751)3.08426249
80intermediate filament cytoskeleton organization (GO:0045104)3.05566448
81positive regulation of catenin import into nucleus (GO:0035413)3.01525983
82lens fiber cell development (GO:0070307)27.4292722
83lens fiber cell differentiation (GO:0070306)22.0647236
84interferon-gamma production (GO:0032609)2.99274496
85ubiquinone metabolic process (GO:0006743)2.98764013
86microtubule depolymerization (GO:0007019)2.98508314
87negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)2.96630906
88resolution of meiotic recombination intermediates (GO:0000712)2.95962055
89regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.95139111
90intermediate filament-based process (GO:0045103)2.94832378
91fluid transport (GO:0042044)2.94742405
92DNA replication checkpoint (GO:0000076)2.94566013
93histone lysine demethylation (GO:0070076)2.94467426
94hindbrain development (GO:0030902)2.93517167
95heparan sulfate proteoglycan metabolic process (GO:0030201)2.89022477
96serine family amino acid catabolic process (GO:0009071)2.87158058
97artery development (GO:0060840)2.81817890
98dopaminergic neuron differentiation (GO:0071542)2.81078091
99keratinocyte development (GO:0003334)2.80770073
100regulation of acyl-CoA biosynthetic process (GO:0050812)2.80061095
101histone demethylation (GO:0016577)2.78053365
102negative regulation of platelet activation (GO:0010544)2.75681445
103intraciliary transport (GO:0042073)2.75301845
104tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.75183420
105RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.75183420
106tongue development (GO:0043586)2.75141975
107male meiosis I (GO:0007141)2.74576750
108kinetochore organization (GO:0051383)2.72842140
109cerebellar granule cell differentiation (GO:0021707)2.71680726
110single strand break repair (GO:0000012)2.71201871
111mitochondrial respiratory chain complex assembly (GO:0033108)2.68431676
112double-strand break repair (GO:0006302)2.67801532
113protein sumoylation (GO:0016925)2.67671733
114photoreceptor cell development (GO:0042461)2.65509346
115response to activity (GO:0014823)2.65312766
116kinetochore assembly (GO:0051382)2.64649227
117peptidyl-histidine modification (GO:0018202)2.64507020
118regulation of spindle organization (GO:0090224)2.62692542
119quinone biosynthetic process (GO:1901663)2.61475889
120DNA replication-independent nucleosome organization (GO:0034724)2.61207949
121DNA replication-independent nucleosome assembly (GO:0006336)2.61207949
122negative regulation of cell aging (GO:0090344)2.59897405
123epithelial cell development (GO:0002064)2.59626483
124detection of light stimulus involved in sensory perception (GO:0050962)2.58788529
125detection of light stimulus involved in visual perception (GO:0050908)2.58788529
126positive regulation of neurological system process (GO:0031646)2.58147653
127meiotic cell cycle process (GO:1903046)2.57027656
128respiratory tube development (GO:0030323)2.54343837
129central nervous system projection neuron axonogenesis (GO:0021952)2.50789962
130mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.49741035
131mitochondrial respiratory chain complex I assembly (GO:0032981)2.49741035
132NADH dehydrogenase complex assembly (GO:0010257)2.49741035
133regulation of skeletal muscle contraction (GO:0014819)2.49175645
134mismatch repair (GO:0006298)2.48353732
135DNA geometric change (GO:0032392)2.48015883
136regulation of G2/M transition of mitotic cell cycle (GO:0010389)2.47699724
137mating behavior (GO:0007617)2.47067196
138skeletal muscle organ development (GO:0060538)2.46766368
139eye photoreceptor cell development (GO:0042462)2.46326235
140mitochondrial RNA metabolic process (GO:0000959)2.45672779
141protein complex biogenesis (GO:0070271)2.45033693
142protein demethylation (GO:0006482)2.44072812
143protein dealkylation (GO:0008214)2.44072812
144chromosome organization involved in meiosis (GO:0070192)2.43657383
145kidney morphogenesis (GO:0060993)2.43488792
146positive regulation of protein import into nucleus, translocation (GO:0033160)2.42635345
147DNA biosynthetic process (GO:0071897)2.42511642
148spindle checkpoint (GO:0031577)2.41762795
149activation of JUN kinase activity (GO:0007257)2.41124648
150regulation of myotube differentiation (GO:0010830)2.40253900
151actomyosin structure organization (GO:0031032)2.39757175
152lung-associated mesenchyme development (GO:0060484)2.38652663
153regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.34971940
154regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.33900325
155regulation of homotypic cell-cell adhesion (GO:0034110)2.29194237
156response to osmotic stress (GO:0006970)2.20919045
157diaphragm development (GO:0060539)2.20703170
158negative regulation of hormone biosynthetic process (GO:0032353)2.19163613
159negative regulation of hormone metabolic process (GO:0032351)2.19163613
160positive regulation of dendritic spine development (GO:0060999)2.17736878
161L-alpha-amino acid transmembrane transport (GO:1902475)2.17369113
162neuronal stem cell maintenance (GO:0097150)2.15345153
163cell-cell junction assembly (GO:0007043)2.12677850
164positive regulation of dendrite morphogenesis (GO:0050775)2.11546051
165prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.08315660
166basement membrane organization (GO:0071711)2.08129457
167metanephric tubule development (GO:0072170)2.06799927
168metanephric nephron tubule development (GO:0072234)2.06799927
169dorsal/ventral axis specification (GO:0009950)2.03872443
170cellular response to prostaglandin stimulus (GO:0071379)2.00851767
171protein localization to cell surface (GO:0034394)2.00097766
172lens morphogenesis in camera-type eye (GO:0002089)11.2777037
173response to muscle activity (GO:0014850)10.5342419
174negative regulation of cell size (GO:0045792)1.99984432
175collecting duct development (GO:0072044)1.99444904
176positive regulation of developmental growth (GO:0048639)1.94832017
177cell maturation (GO:0048469)1.90707339
178protein trimerization (GO:0070206)1.90316492
179apoptotic process involved in development (GO:1902742)1.89463814
180negative regulation of JUN kinase activity (GO:0043508)1.89066398
181regulation of skeletal muscle tissue development (GO:0048641)1.87843126
182metanephric nephron epithelium development (GO:0072243)1.87225826
183cellular response to vitamin D (GO:0071305)1.82666192
184apoptotic process involved in morphogenesis (GO:0060561)1.80524066
185regulation of dendritic spine morphogenesis (GO:0061001)1.79972074
186cartilage morphogenesis (GO:0060536)1.75881798
187bone trabecula formation (GO:0060346)1.75850642
188regulation of striated muscle cell differentiation (GO:0051153)1.75522220
189regulation of non-canonical Wnt signaling pathway (GO:2000050)1.74873708
190phosphatidylinositol 3-kinase signaling (GO:0014065)1.71630587
191anatomical structure regression (GO:0060033)1.70180396
192regulation of bile acid biosynthetic process (GO:0070857)1.69490968
193regulation of platelet activation (GO:0010543)1.68972956
194regulation of calcium ion transport into cytosol (GO:0010522)1.67964093
195negative regulation of osteoblast proliferation (GO:0033689)1.66824030
196negative regulation of potassium ion transmembrane transport (GO:1901380)1.66790150
197carnitine shuttle (GO:0006853)1.65703695
198metanephric epithelium development (GO:0072207)1.64670478
199digestive tract morphogenesis (GO:0048546)1.61966854
200negative regulation of fibroblast apoptotic process (GO:2000270)1.61772853

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse6.32097315
2RBPJ_22232070_ChIP-Seq_NCS_Mouse5.85879462
3ZNF652_21678463_ChIP-ChIP_ZR75-1_Human5.22272802
4HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.53217931
5FOXM1_23109430_ChIP-Seq_U2OS_Human4.46075955
6E2F7_22180533_ChIP-Seq_HELA_Human4.24982737
7CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.07170872
8PCGF2_27294783_Chip-Seq_NPCs_Mouse3.83707085
9IKZF1_21737484_ChIP-ChIP_HCT116_Human3.59429791
10E2F4_17652178_ChIP-ChIP_JURKAT_Human3.36816625
11EGR1_19032775_ChIP-ChIP_M12_Human3.19303830
12MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.10271081
13FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.04088364
14SALL1_21062744_ChIP-ChIP_HESCs_Human3.01793707
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.99042441
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.83977296
17BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.69951295
18GABP_17652178_ChIP-ChIP_JURKAT_Human2.65247150
19EWS_26573619_Chip-Seq_HEK293_Human2.52778187
20NFE2_27457419_Chip-Seq_LIVER_Mouse2.50581198
21RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.47589880
22POU5F1_16153702_ChIP-ChIP_HESCs_Human2.37594121
23EZH2_22144423_ChIP-Seq_EOC_Human2.36789345
24SUZ12_27294783_Chip-Seq_NPCs_Mouse2.31636088
25SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.30123686
26SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.22735006
27EZH2_18974828_ChIP-Seq_MESCs_Mouse2.21377893
28RNF2_18974828_ChIP-Seq_MESCs_Mouse2.21377893
29POU3F2_20337985_ChIP-ChIP_501MEL_Human2.20732249
30FUS_26573619_Chip-Seq_HEK293_Human2.18302273
31EST1_17652178_ChIP-ChIP_JURKAT_Human2.17734227
32JARID2_20064375_ChIP-Seq_MESCs_Mouse2.12221758
33HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.08369072
34ELK1_19687146_ChIP-ChIP_HELA_Human2.07447002
35NANOG_16153702_ChIP-ChIP_HESCs_Human2.05800212
36ZNF274_21170338_ChIP-Seq_K562_Hela2.01132255
37EED_16625203_ChIP-ChIP_MESCs_Mouse1.99495470
38EZH2_27294783_Chip-Seq_NPCs_Mouse1.94868103
39SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.93161914
40P300_19829295_ChIP-Seq_ESCs_Human1.85203328
41EGR1_19374776_ChIP-ChIP_THP-1_Human1.82594259
42RNF2_27304074_Chip-Seq_ESCs_Mouse1.81222153
43SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.81165844
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.79157060
45CBX2_27304074_Chip-Seq_ESCs_Mouse1.77475446
46CTCF_18555785_Chip-Seq_ESCs_Mouse1.73702270
47SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.72107783
48RUNX1_27457419_Chip-Seq_LIVER_Mouse1.71582565
49MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.69071815
50SMAD1_18555785_Chip-Seq_ESCs_Mouse1.67860427
51VDR_23849224_ChIP-Seq_CD4+_Human1.65648950
52GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.63616221
53TAF15_26573619_Chip-Seq_HEK293_Human1.60758135
54NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.60393493
55GATA1_22025678_ChIP-Seq_K562_Human1.59052935
56ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.57847531
57SOX2_16153702_ChIP-ChIP_HESCs_Human1.57148356
58CREB1_15753290_ChIP-ChIP_HEK293T_Human1.56589713
59MTF2_20144788_ChIP-Seq_MESCs_Mouse1.56169136
60EZH2_27304074_Chip-Seq_ESCs_Mouse1.54483236
61JARID2_20075857_ChIP-Seq_MESCs_Mouse1.54089132
62PU1_27457419_Chip-Seq_LIVER_Mouse1.50770558
63EZH2_27294783_Chip-Seq_ESCs_Mouse1.49458141
64CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.49007178
65CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.48845463
66EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.48312217
67WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.46939989
68EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.46402196
69MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.45850781
70ER_23166858_ChIP-Seq_MCF-7_Human1.45764896
71ZFP57_27257070_Chip-Seq_ESCs_Mouse1.45764238
72CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.43841689
73FLI1_27457419_Chip-Seq_LIVER_Mouse1.43787385
74* AUTS2_25519132_ChIP-Seq_293T-REX_Human1.42161907
75TBX3_20139965_ChIP-Seq_MESCs_Mouse1.41760211
76TBX3_20139965_ChIP-Seq_ESCs_Mouse1.41405838
77VDR_22108803_ChIP-Seq_LS180_Human1.40865058
78LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.40593043
79EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.39372493
80EP300_21415370_ChIP-Seq_HL-1_Mouse1.39338490
81TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.38847803
82PADI4_21655091_ChIP-ChIP_MCF-7_Human1.38711265
83TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.35497421
84JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.34847177
85JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.34023939
86TP53_22573176_ChIP-Seq_HFKS_Human1.33301867
87ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.32927248
88* GATA3_24758297_ChIP-Seq_MCF-7_Human1.32310499
89TTF2_22483619_ChIP-Seq_HELA_Human1.30861630
90CTCF_27219007_Chip-Seq_Bcells_Human1.29547072
91PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.29416225
92UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.29239219
93SALL4_22934838_ChIP-ChIP_CD34+_Human1.29048590
94CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.27962410
95P53_22387025_ChIP-Seq_ESCs_Mouse1.27460745
96TP53_20018659_ChIP-ChIP_R1E_Mouse1.26547882
97RING1B_27294783_Chip-Seq_NPCs_Mouse1.24752487
98GATA2_21666600_ChIP-Seq_HMVEC_Human1.24093175
99* SOX2_22085726_ChIP-Seq_NPCs_Mouse1.23803319
100GBX2_23144817_ChIP-Seq_PC3_Human1.23540978
101GATA1_19941827_ChIP-Seq_MEL86_Mouse1.22071139
102CRX_20693478_ChIP-Seq_RETINA_Mouse1.21845509
103CTBP2_25329375_ChIP-Seq_LNCAP_Human1.21817367
104BCAT_22108803_ChIP-Seq_LS180_Human1.21555278
105TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21274602
106PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.21196908
107PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.21114231
108FOXP3_21729870_ChIP-Seq_TREG_Human1.20882216
109ZNF217_24962896_ChIP-Seq_MCF-7_Human1.20589576
110IGF1R_20145208_ChIP-Seq_DFB_Human1.19133464
111SOX2_18555785_Chip-Seq_ESCs_Mouse1.19008171
112PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18785770
113ETV2_25802403_ChIP-Seq_MESCs_Mouse1.18560780
114OCT4_21477851_ChIP-Seq_ESCs_Mouse1.17786185
115CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.16655972
116XRN2_22483619_ChIP-Seq_HELA_Human1.15906214
117SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.15049314
118E2F1_21310950_ChIP-Seq_MCF-7_Human1.14890958
119RNF2_27304074_Chip-Seq_NSC_Mouse1.14203056
120TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.14038661
121KLF4_18555785_Chip-Seq_ESCs_Mouse1.13765165
122CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.13588053
123E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.13352294
124NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.13270618
125JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.12473519
126CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.10852750
127RING1B_27294783_Chip-Seq_ESCs_Mouse1.10550223
128ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.10328806
129ETS1_20019798_ChIP-Seq_JURKAT_Human1.10051413
130FOXA1_21572438_ChIP-Seq_LNCaP_Human1.09513175
131SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.08780110
132SUZ12_27294783_Chip-Seq_ESCs_Mouse1.07312502
133SMAD3_21741376_ChIP-Seq_ESCs_Human1.07223043
134SALL4_18804426_ChIP-ChIP_XEN_Mouse1.07125471
135TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07118062
136POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.07118062
137ZFX_18555785_Chip-Seq_ESCs_Mouse1.07062155
138RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.06623854
139FOXA2_19822575_ChIP-Seq_HepG2_Human1.05543529
140NR3C1_23031785_ChIP-Seq_PC12_Mouse1.04757864
141P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04637158
142SMAD4_21799915_ChIP-Seq_A2780_Human1.04028508
143NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03199672
144TCF4_23295773_ChIP-Seq_U87_Human1.03012824
145MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.01647425
146KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.00859484
147RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.00514294
148TP63_19390658_ChIP-ChIP_HaCaT_Human0.99994376
149SMC3_22415368_ChIP-Seq_MEFs_Mouse0.99942870
150ZFP281_18757296_ChIP-ChIP_E14_Mouse0.99583858
151FOXA1_25329375_ChIP-Seq_VCAP_Human0.99279256
152FOXA1_27270436_Chip-Seq_PROSTATE_Human0.99279256
153SRF_21415370_ChIP-Seq_HL-1_Mouse0.99208229
154P300_18555785_Chip-Seq_ESCs_Mouse0.98725123
155FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.96165666
156FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.95566437
157OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.95007349
158GATA3_21878914_ChIP-Seq_MCF-7_Human0.94932533
159MYC_18940864_ChIP-ChIP_HL60_Human0.94868682
160DCP1A_22483619_ChIP-Seq_HELA_Human0.94602514
161SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93338060
162PCGF2_27294783_Chip-Seq_ESCs_Mouse0.93189315
163ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.92798045
164TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92292372
165PIAS1_25552417_ChIP-Seq_VCAP_Human0.92152863
166SMAD3_21741376_ChIP-Seq_EPCs_Human0.91843145
167HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.91447532
168CMYC_18555785_Chip-Seq_ESCs_Mouse0.91332734
169SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.91242715
170SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.91001979
171SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.89895421
172NCOR_22424771_ChIP-Seq_293T_Human0.88825471
173LXR_22292898_ChIP-Seq_THP-1_Human0.88444049
174STAT3_23295773_ChIP-Seq_U87_Human0.87245212
175SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.86683039
176AR_25329375_ChIP-Seq_VCAP_Human0.86215561
177AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.85124631
178CTBP1_25329375_ChIP-Seq_LNCAP_Human0.84661695
179* ERG_20517297_ChIP-Seq_VCAP_Human0.84115576
180SOX9_26525672_Chip-Seq_HEART_Mouse0.82566229
181TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.80175712

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005193_abnormal_anterior_eye9.04711936
2MP0005253_abnormal_eye_physiology5.47977445
3MP0003136_yellow_coat_color4.56272972
4MP0001286_abnormal_eye_development4.06095704
5MP0005171_absent_coat_pigmentation3.89011222
6MP0005197_abnormal_uvea_morphology3.89008597
7MP0002092_abnormal_eye_morphology3.85763425
8MP0009697_abnormal_copulation3.77164226
9MP0000749_muscle_degeneration3.73453345
10MP0005423_abnormal_somatic_nervous3.69396661
11MP0003941_abnormal_skin_development3.58493011
12MP0005391_vision/eye_phenotype3.46037658
13MP0003880_abnormal_central_pattern3.30519840
14MP0000569_abnormal_digit_pigmentation3.11304326
15MP0000566_synostosis3.02173619
16MP0008877_abnormal_DNA_methylation2.86447445
17MP0010030_abnormal_orbit_morphology2.77746362
18MP0005174_abnormal_tail_pigmentation2.69317886
19MP0002090_abnormal_vision2.62488232
20MP0002938_white_spotting2.55062927
21MP0001346_abnormal_lacrimal_gland2.43860344
22MP0010094_abnormal_chromosome_stability2.34197423
23MP0003111_abnormal_nucleus_morphology2.07392367
24MP0001986_abnormal_taste_sensitivity2.04978615
25* MP0002697_abnormal_eye_size13.6687807
26MP0002638_abnormal_pupillary_reflex1.78535174
27MP0002108_abnormal_muscle_morphology1.73583107
28MP0005084_abnormal_gallbladder_morpholo1.67159831
29MP0008789_abnormal_olfactory_epithelium1.64282119
30MP0004272_abnormal_basement_membrane1.55357043
31MP0005408_hypopigmentation1.42141712
32MP0002102_abnormal_ear_morphology1.41419197
33MP0005551_abnormal_eye_electrophysiolog1.41417468
34MP0002095_abnormal_skin_pigmentation1.41240942
35MP0008058_abnormal_DNA_repair1.40324407
36MP0005330_cardiomyopathy1.40197166
37MP0005195_abnormal_posterior_eye1.38822113
38MP0002269_muscular_atrophy1.38098414
39MP0008057_abnormal_DNA_replication1.37376489
40MP0006276_abnormal_autonomic_nervous1.35467918
41MP0005377_hearing/vestibular/ear_phenot1.34330718
42MP0003878_abnormal_ear_physiology1.34330718
43MP0006036_abnormal_mitochondrial_physio1.33879977
44MP0002160_abnormal_reproductive_system1.33244534
45MP0008875_abnormal_xenobiotic_pharmacok1.33203372
46MP0005083_abnormal_biliary_tract1.32700819
47MP0010368_abnormal_lymphatic_system1.31705823
48MP0002210_abnormal_sex_determination1.29306901
49MP0000383_abnormal_hair_follicle1.26428710
50MP0000427_abnormal_hair_cycle1.24994115
51MP0000372_irregular_coat_pigmentation1.20922498
52MP0003718_maternal_effect1.20352293
53MP0001293_anophthalmia1.18242177
54MP0003938_abnormal_ear_development1.18037744
55MP0002277_abnormal_respiratory_mucosa1.17971417
56MP0001929_abnormal_gametogenesis1.14419136
57MP0002735_abnormal_chemical_nociception1.13807444
58MP0003937_abnormal_limbs/digits/tail_de1.12856129
59MP0003119_abnormal_digestive_system1.11701901
60MP0003077_abnormal_cell_cycle1.10273261
61MP0004215_abnormal_myocardial_fiber1.09935737
62MP0001756_abnormal_urination1.08989293
63MP0000653_abnormal_sex_gland1.08709724
64MP0000579_abnormal_nail_morphology1.05822738
65MP0003137_abnormal_impulse_conducting1.05443472
66MP0001661_extended_life_span1.03389929
67MP0001299_abnormal_eye_distance/1.03169826
68MP0005394_taste/olfaction_phenotype1.02630288
69MP0005499_abnormal_olfactory_system1.02630288
70MP0002234_abnormal_pharynx_morphology1.02499342
71MP0002876_abnormal_thyroid_physiology1.01689571
72MP0001145_abnormal_male_reproductive1.01027962
73MP0003693_abnormal_embryo_hatching0.99564179
74MP0003698_abnormal_male_reproductive0.99293400
75MP0001119_abnormal_female_reproductive0.98258112
76MP0002751_abnormal_autonomic_nervous0.98107464
77MP0003786_premature_aging0.96678559
78MP0006292_abnormal_olfactory_placode0.94380734
79MP0000026_abnormal_inner_ear0.92089891
80MP0004381_abnormal_hair_follicle0.90001771
81MP0005310_abnormal_salivary_gland0.88203455
82MP0004133_heterotaxia0.88171364
83MP0001340_abnormal_eyelid_morphology0.85810019
84MP0006035_abnormal_mitochondrial_morpho0.84110222
85MP0002282_abnormal_trachea_morphology0.83499135
86MP0002139_abnormal_hepatobiliary_system0.81776994
87MP0002233_abnormal_nose_morphology0.80910970
88MP0002332_abnormal_exercise_endurance0.79527511
89MP0002075_abnormal_coat/hair_pigmentati0.78888953
90MP0000015_abnormal_ear_pigmentation0.77284059
91MP0000647_abnormal_sebaceous_gland0.75981744
92MP0003787_abnormal_imprinting0.75253025
93MP0008961_abnormal_basal_metabolism0.72650899
94MP0004142_abnormal_muscle_tone0.71882465
95MP0000631_abnormal_neuroendocrine_gland0.71468578
96MP0000049_abnormal_middle_ear0.69675693
97MP0005389_reproductive_system_phenotype0.68352115
98MP0003755_abnormal_palate_morphology0.67984352
99MP0000358_abnormal_cell_content/0.66963208
100MP0005319_abnormal_enzyme/_coenzyme0.65287902
101MP0004924_abnormal_behavior0.64886493
102MP0005386_behavior/neurological_phenoty0.64886493
103MP0005369_muscle_phenotype0.63379184
104MP0004957_abnormal_blastocyst_morpholog0.63037079
105MP0004087_abnormal_muscle_fiber0.62932891
106MP0003705_abnormal_hypodermis_morpholog0.62502725
107MP0004859_abnormal_synaptic_plasticity0.61525172
108MP0001905_abnormal_dopamine_level0.61045252
109MP0003123_paternal_imprinting0.59122230
110MP0001324_abnormal_eye_pigmentation0.57512132
111MP0002736_abnormal_nociception_after0.54594521
112MP0002734_abnormal_mechanical_nocicepti0.53939602
113MP0000759_abnormal_skeletal_muscle0.52923792
114MP0003252_abnormal_bile_duct0.52588104
115MP0003011_delayed_dark_adaptation0.51639398
116MP0002653_abnormal_ependyma_morphology0.50132576
117MP0001968_abnormal_touch/_nociception0.49154317
118MP0004885_abnormal_endolymph0.48253801
119MP0001915_intracranial_hemorrhage0.47176602
120MP0005187_abnormal_penis_morphology0.46803700
121MP0000537_abnormal_urethra_morphology0.46229059
122MP0005248_abnormal_Harderian_gland0.44996362
123MP0002249_abnormal_larynx_morphology0.42682815
124MP0009053_abnormal_anal_canal0.42640244
125MP0005257_abnormal_intraocular_pressure0.42319180
126MP0001879_abnormal_lymphatic_vessel0.41934007
127MP0003635_abnormal_synaptic_transmissio0.40962886
128MP0002089_abnormal_postnatal_growth/wei0.39986825
129MP0009780_abnormal_chondrocyte_physiolo0.38513157
130MP0002177_abnormal_outer_ear0.36973595
131MP0003942_abnormal_urinary_system0.35483782
132MP0006072_abnormal_retinal_apoptosis0.34827798
133MP0004134_abnormal_chest_morphology0.31888763
134MP0002063_abnormal_learning/memory/cond0.31528617
135MP0009250_abnormal_appendicular_skeleto0.30974260
136MP0001502_abnormal_circadian_rhythm0.30623993
137MP0001943_abnormal_respiration0.30459551
138MP0000428_abnormal_craniofacial_morphol0.29520277
139MP0003115_abnormal_respiratory_system0.28509181
140MP0003656_abnormal_erythrocyte_physiolo0.27946165
141MP0005085_abnormal_gallbladder_physiolo0.26824785
142MP0003566_abnormal_cell_adhesion0.26660846
143MP0002163_abnormal_gland_morphology0.26630986
144MP0004811_abnormal_neuron_physiology0.26360847
145MP0005647_abnormal_sex_gland0.26350562
146MP0004270_analgesia0.25342304
147MP0002925_abnormal_cardiovascular_devel0.25000616
148MP0002152_abnormal_brain_morphology0.24457959
149MP0000955_abnormal_spinal_cord0.23743651
150MP0003959_abnormal_lean_body0.23612490
151MP0000465_gastrointestinal_hemorrhage0.23606554
152MP0002733_abnormal_thermal_nociception0.23521832
153MP0001958_emphysema0.22803839
154MP0000747_muscle_weakness0.22779666
155MP0002882_abnormal_neuron_morphology0.21766751
156MP0002064_seizures0.21343900
157MP0000778_abnormal_nervous_system0.20687612
158MP0001614_abnormal_blood_vessel0.20209639
159MP0001784_abnormal_fluid_regulation0.19904999
160MP0003122_maternal_imprinting0.19779857
161MP0002295_abnormal_pulmonary_circulatio0.19719080
162MP0001486_abnormal_startle_reflex0.19445948
163MP0005623_abnormal_meninges_morphology0.19344728
164MP0004197_abnormal_fetal_growth/weight/0.18798769
165MP0000751_myopathy0.18188796
166MP0002184_abnormal_innervation0.15431859
167MP0002081_perinatal_lethality0.15308851
168MP0002128_abnormal_blood_circulation0.14354284
169MP0003943_abnormal_hepatobiliary_system0.13525268
170MP0000266_abnormal_heart_morphology0.13181144
171MP0003121_genomic_imprinting0.13126978
172MP0002106_abnormal_muscle_physiology0.13094310
173MP0003861_abnormal_nervous_system0.13009986
174MP0002066_abnormal_motor_capabilities/c0.13006556
175MP0008438_abnormal_cutaneous_collagen0.12886484
176MP0002272_abnormal_nervous_system0.12688374

Predicted human phenotypes

RankGene SetZ-score
1Corneal dystrophy (HP:0001131)7.47748660
2Amblyopia (HP:0000646)7.17483623
3* Congenital cataract (HP:0000519)7.08322219
4Anterior segment dysgenesis (HP:0007700)6.09778581
5Polar cataract (HP:0010696)4.50562699
6Clumsiness (HP:0002312)4.03302561
7Microcornea (HP:0000482)3.75153334
8Chromosomal breakage induced by crosslinking agents (HP:0003221)3.72183589
9Bifid scrotum (HP:0000048)3.59075315
10Reticulocytopenia (HP:0001896)3.58741554
11Chromsome breakage (HP:0040012)3.53511288
12Renal hypoplasia (HP:0000089)3.41163379
13Supernumerary spleens (HP:0009799)3.39107505
14Dyschromatopsia (HP:0007641)3.16704204
15Attenuation of retinal blood vessels (HP:0007843)3.15491507
16Testicular atrophy (HP:0000029)3.15168623
17Pancytopenia (HP:0001876)3.05030244
18Ectopic kidney (HP:0000086)3.03822943
19Iris coloboma (HP:0000612)3.00902672
20Nuclear cataract (HP:0100018)28.1561552
21* Zonular cataract (HP:0010920)23.5987562
22Abnormality of the ileum (HP:0001549)2.99699062
23Aplasia/Hypoplasia of the uvula (HP:0010293)2.94707014
24Eosinophilia (HP:0001880)2.93350075
25Abnormality of chromosome stability (HP:0003220)2.89087274
26Decreased circulating renin level (HP:0003351)2.88076242
27Congenital, generalized hypertrichosis (HP:0004540)2.87997594
28Abnormality of DNA repair (HP:0003254)2.87898019
29Abnormal lung lobation (HP:0002101)2.87655767
30Abnormal drinking behavior (HP:0030082)2.87434252
31Polydipsia (HP:0001959)2.87434252
32Duplicated collecting system (HP:0000081)2.85644329
33Facial hemangioma (HP:0000329)2.82014511
34Meckel diverticulum (HP:0002245)2.80253341
35Intestinal atresia (HP:0011100)2.79840222
36Abnormality of midbrain morphology (HP:0002418)2.74428112
37Molar tooth sign on MRI (HP:0002419)2.74428112
38Bony spicule pigmentary retinopathy (HP:0007737)2.70297558
39Absent thumb (HP:0009777)2.69275544
40Opacification of the corneal stroma (HP:0007759)2.68645476
41Rectal fistula (HP:0100590)2.65694884
42Rectovaginal fistula (HP:0000143)2.65694884
43Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.64544478
44Nephronophthisis (HP:0000090)2.62874973
45Abnormality of the anterior chamber (HP:0000593)2.55768174
46Abnormality of the proximal phalanges of the hand (HP:0009834)2.52940031
47Abnormality of the renal collecting system (HP:0004742)2.48967103
48Generalized aminoaciduria (HP:0002909)2.46700392
49Medial flaring of the eyebrow (HP:0010747)2.46090734
50Abnormality of the preputium (HP:0100587)2.45117286
51Wide intermamillary distance (HP:0006610)2.44753892
52Hypoglycemic coma (HP:0001325)2.42673052
53Sclerocornea (HP:0000647)2.40925045
54Bone marrow hypocellularity (HP:0005528)2.40558506
55Carpal bone hypoplasia (HP:0001498)2.37554350
56Tented upper lip vermilion (HP:0010804)2.34641117
57Granulocytopenia (HP:0001913)2.33746104
58Duodenal stenosis (HP:0100867)2.29637206
59Small intestinal stenosis (HP:0012848)2.29637206
60Short tibia (HP:0005736)2.28789404
61Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.27609060
62Cerebellar dysplasia (HP:0007033)2.26894911
63Congenital primary aphakia (HP:0007707)2.25506102
64Intestinal fistula (HP:0100819)2.25051202
65Aplasia/Hypoplasia of the tibia (HP:0005772)2.23006036
66Hepatic necrosis (HP:0002605)2.22380526
67Abnormality of the renal medulla (HP:0100957)2.21614415
68Oligodactyly (HP:0012165)2.21195027
69Nephrogenic diabetes insipidus (HP:0009806)2.21180191
70Polyuria (HP:0000103)2.20612820
71True hermaphroditism (HP:0010459)2.16232084
72Retinal dysplasia (HP:0007973)2.14714942
73Delayed epiphyseal ossification (HP:0002663)2.14461185
74Decreased central vision (HP:0007663)2.13674192
75Short 4th metacarpal (HP:0010044)2.12724670
76Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.12724670
77Abnormality of the phalanges of the hallux (HP:0010057)2.11569889
78Increased hepatocellular lipid droplets (HP:0006565)2.10385075
79Anencephaly (HP:0002323)2.08701488
80Pendular nystagmus (HP:0012043)2.08681242
81Proximal amyotrophy (HP:0007126)2.08622036
82Scapular winging (HP:0003691)2.08150902
83Vaginal fistula (HP:0004320)2.05761875
84Abnormality of the duodenum (HP:0002246)2.05424555
85Pancreatic islet-cell hyperplasia (HP:0004510)2.04300490
86Posterior subcapsular cataract (HP:0007787)2.01788151
87Triphalangeal thumb (HP:0001199)2.01764641
88Abnormality of eosinophils (HP:0001879)2.01760265
89Gait imbalance (HP:0002141)2.01499184
90Capillary hemangiomas (HP:0005306)2.00446113
91Multicystic kidney dysplasia (HP:0000003)1.98318315
92Abnormal biliary tract physiology (HP:0012439)1.94674207
93Bile duct proliferation (HP:0001408)1.94674207
94Pancreatic cysts (HP:0001737)1.92920058
95Aplasia/Hypoplasia of the lens (HP:0008063)1.90302905
96Pancreatic fibrosis (HP:0100732)1.89532875
97Absent radius (HP:0003974)1.86770459
98Abnormality of the aortic arch (HP:0012303)1.85686628
99Hypothermia (HP:0002045)1.84306849
100Hepatocellular necrosis (HP:0001404)1.83190227
101Absent forearm bone (HP:0003953)1.82208130
102Aplasia involving forearm bones (HP:0009822)1.82208130
103Colon cancer (HP:0003003)1.81539493
104Abnormality of the renal cortex (HP:0011035)1.80809930
105Gastrointestinal atresia (HP:0002589)1.80652829
106Short thumb (HP:0009778)1.79634932
107Renal cortical cysts (HP:0000803)1.79491773
108Lipid accumulation in hepatocytes (HP:0006561)1.78166591
109Postaxial hand polydactyly (HP:0001162)1.76384146
110Intellectual disability, moderate (HP:0002342)1.74835296
111Abnormality of the carotid arteries (HP:0005344)1.73525171
112Abnormal urine output (HP:0012590)1.73386835
113Flat capital femoral epiphysis (HP:0003370)1.73269661
114Aplasia/Hypoplasia of the macula (HP:0008059)1.71318450
115Fetal akinesia sequence (HP:0001989)1.64584709
116Neonatal respiratory distress (HP:0002643)1.64570724
117Aplasia/Hypoplasia affecting the retina (HP:0008061)1.60761294
118Popliteal pterygium (HP:0009756)1.54728766
119Long clavicles (HP:0000890)1.53820920
120Aplasia of the musculature (HP:0100854)1.50665675
121Amniotic constriction ring (HP:0009775)1.37468339
122Abnormality of placental membranes (HP:0011409)1.37468339
123Akinesia (HP:0002304)1.34408422
124Hypoplastic nipples (HP:0002557)1.32555946
125Leukocytosis (HP:0001974)1.32444490
126Difficulty walking (HP:0002355)1.27093482
127Abnormality of the shoulder girdle musculature (HP:0001435)1.24769869
128Rib fusion (HP:0000902)1.12138350
129Subcapsular cataract (HP:0000523)1.07970709
130Symphalangism affecting the phalanges of the hand (HP:0009773)1.06626582
131Severe visual impairment (HP:0001141)1.04022455
132Fused cervical vertebrae (HP:0002949)1.02823583
133Abnormality of the labia majora (HP:0012881)0.96578384
134Vertebral clefting (HP:0008428)0.93472009
135Chorioretinal coloboma (HP:0000567)0.91849625
136Aplasia/Hypoplasia involving the musculature (HP:0001460)0.85659230
137Exostoses (HP:0100777)0.77016837
138Pterygium (HP:0001059)0.74404359
139Malignant hyperthermia (HP:0002047)0.71864453
140Hypoplastic heart (HP:0001961)0.71639329
141Abnormal number of incisors (HP:0011064)0.70335583
142Thin ribs (HP:0000883)0.67885096
143Camptodactyly of toe (HP:0001836)0.66072894
144Lymphangioma (HP:0100764)0.65633501
145Neoplasm of the heart (HP:0100544)0.65261078
146Ependymoma (HP:0002888)0.65084922
147Cystic hygroma (HP:0000476)0.62514231
148Diminished movement (HP:0002374)0.58796171
149Chorioretinal atrophy (HP:0000533)0.57841308
150Split foot (HP:0001839)0.55954714
151Aplasia/Hypoplasia of the nipples (HP:0006709)0.55784213
152Dislocated radial head (HP:0003083)0.55413253
153Enlarged kidneys (HP:0000105)0.55258980
154Congenital stationary night blindness (HP:0007642)0.53141054
155Abnormality of the humeroradial joint (HP:0100744)0.52424818
156Abnormality of the radial head (HP:0003995)0.51169313
157Hypoplastic pelvis (HP:0008839)0.50662236
158Abnormality of the astrocytes (HP:0100707)0.50539605
159Astrocytoma (HP:0009592)0.50539605
160Hepatoblastoma (HP:0002884)0.49718913
161Neonatal hypoglycemia (HP:0001998)0.48574351
162Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.48286817
163Patellar aplasia (HP:0006443)0.47836071
164Pointed chin (HP:0000307)0.47559738
165Broad nasal tip (HP:0000455)0.47492128
166* Autosomal dominant inheritance (HP:0000006)0.47242771
167Flexion contracture of toe (HP:0005830)0.46696606
168Joint contractures involving the joints of the feet (HP:0100492)0.46696606
169Muscle fiber splitting (HP:0003555)0.46542669
170Abnormality of cochlea (HP:0000375)0.45698248
171Central scotoma (HP:0000603)0.45238126
172Abnormality of the labia (HP:0000058)0.42921777
173Scotoma (HP:0000575)0.42466021
174Submucous cleft hard palate (HP:0000176)0.42051847
175Aplasia/Hypoplasia of the patella (HP:0006498)0.41771683
176Hemiplegia (HP:0002301)0.41638597
177Visceral angiomatosis (HP:0100761)0.41401152
178Photophobia (HP:0000613)0.41350636
179Hamartoma of the eye (HP:0010568)0.41246425
180Annular pancreas (HP:0001734)0.39921881
181Abnormality of the nasal septum (HP:0000419)0.38605061
182Abnormal pancreas size (HP:0012094)0.38493002
183Skin nodule (HP:0200036)0.37853348
184Hyporeflexia of lower limbs (HP:0002600)0.37766951
185Buphthalmos (HP:0000557)0.37643564
186Hemangiomatosis (HP:0007461)0.36875242
187Atelectasis (HP:0100750)0.36628388
188Synostosis involving the elbow (HP:0003938)0.36552434
189Humeroradial synostosis (HP:0003041)0.36552434
190Abnormality of incisor morphology (HP:0011063)0.36514542
191Hyperthyroidism (HP:0000836)0.36392430
192Hypopigmentation of the fundus (HP:0007894)0.35023984

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.72426645
2BLK5.19198999
3INSRR4.86605027
4SGK14.57786953
5STK164.24282575
6PBK3.73688800
7NUAK13.66718307
8BUB13.18922322
9STK393.09142166
10WNK43.02775745
11TRIM282.98583253
12MST42.98515754
13PRKG12.85288650
14FLT32.74281883
15NTRK12.48733414
16MAPK152.23210689
17SIK12.13051522
18CCNB11.96381818
19CDC71.86925886
20IGF1R1.86087747
21WEE11.71323618
22ACVR1B1.70364668
23PKN21.63995777
24MAPK101.61573466
25STK31.61457583
26MET1.59914430
27INSR1.57072690
28PDGFRA1.50425126
29PNCK1.49254852
30EPHB21.48480662
31MAP4K21.42344583
32PIK3CG1.37975418
33OXSR11.35534735
34ERBB21.31346972
35LRRK21.31242783
36BRSK21.30713858
37WNK11.30465571
38SRPK11.28858588
39PRKACB1.27750300
40FRK1.25536347
41* PRKCB1.24263446
42VRK21.22330227
43TRIB31.19713006
44TTK1.18666256
45EPHA41.16866341
46MAP3K101.15816998
47ZAP701.14542828
48RPS6KA31.13255130
49STK38L1.09441351
50CAMK1D1.09346209
51PDK21.09036971
52ICK1.08595843
53DMPK1.07669747
54PKN11.06267086
55VRK11.03366006
56CDK61.03185546
57PLK41.02772636
58ZAK1.02385995
59MAP3K41.01119071
60BMPR1B1.00708914
61PTK60.97257857
62PRKCQ0.95265531
63SGK2230.92676334
64SGK4940.92676334
65ADRBK20.90822649
66STK100.89672985
67BRD40.89148658
68MAP2K40.87413213
69PAK40.87016551
70EIF2AK10.85921309
71ATR0.82812906
72LATS10.81934543
73BCKDK0.81918607
74GRK50.81700008
75ROCK20.81528390
76TLK10.80779954
77PRKACG0.79659058
78DYRK1A0.78289429
79NEK20.78113614
80EPHA20.75133556
81NEK10.74189136
82CAMKK10.74024532
83PLK30.73946891
84PAK60.73660533
85PTK20.72828775
86CAMK1G0.72108481
87CDK80.68409385
88EIF2AK30.68223174
89MAP2K70.68155209
90TAF10.67636817
91PLK10.67453342
92GRK70.66710041
93CSF1R0.66522985
94TGFBR10.64036259
95PHKG10.63344320
96PHKG20.63344320
97CHEK20.61006087
98PAK30.60792745
99MUSK0.60656217
100EIF2AK20.60598487
101ROCK10.59620911
102WNK30.59605963
103RPS6KA20.58172037
104IRAK20.57733718
105ATM0.54580775
106MAPK130.54519741
107SCYL20.54078627
108MELK0.53811302
109MAPKAPK50.51012440
110GRK10.50750690
111CSNK2A20.49631068
112NTRK30.49052360
113ILK0.48719178
114DYRK30.48316476
115NME10.46649998
116JAK30.45755843
117PRPF4B0.44462655
118ADRBK10.43189078
119MKNK20.42923905
120ERBB30.42869785
121CSNK1D0.42243161
122CASK0.41802928
123HIPK20.41711231
124PRKCH0.41338882
125FGFR10.40951194
126BCR0.40833371
127MINK10.40827472
128AURKB0.39630738
129DYRK1B0.39250728
130FGFR20.38765416
131CDK120.37815678
132IRAK40.37642276
133CDK50.37409662
134MARK10.37238371
135STK40.36286915
136NEK90.36016132
137EGFR0.35663019
138UHMK10.33316506
139MKNK10.32726807
140OBSCN0.32682075
141PRKCE0.32591115
142RPS6KA10.32230084
143RAF10.31770469
144AURKA0.31598621
145CSNK1G30.31274168
146CSNK1G20.31070456
147PRKCA0.30169716
148CAMK10.30083487
149CHEK10.29646002
150LATS20.29508762
151CHUK0.28686680
152ALK0.28547680
153RPS6KC10.28336580
154RPS6KL10.28336580
155PDGFRB0.27215124
156PLK20.26927361
157CSNK1E0.26673861
158CSNK1G10.25910925
159DYRK20.25080220
160PASK0.24707092
161RPS6KB10.24521934
162MAPKAPK20.22764469
163PTK2B0.22628860
164TBK10.21903579
165PRKACA0.21336397
166FYN0.20930077
167CSNK1A1L0.20775091
168TIE10.20424000
169CDK10.19990544
170FER0.19677852
171PRKCG0.18896325
172SYK0.16336612
173JAK10.16187846

Predicted pathways (KEGG)

RankGene SetZ-score
1Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001305.51424041
2Homologous recombination_Homo sapiens_hsa034405.14834283
3Fanconi anemia pathway_Homo sapiens_hsa034604.55024230
4Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005343.70180073
5Phototransduction_Homo sapiens_hsa047443.38748335
6RNA polymerase_Homo sapiens_hsa030202.90908361
7Small cell lung cancer_Homo sapiens_hsa052222.65226643
8Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.44758295
9Hedgehog signaling pathway_Homo sapiens_hsa043402.30060340
10Protein export_Homo sapiens_hsa030602.28716307
11Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.25893992
12Oxidative phosphorylation_Homo sapiens_hsa001902.23348405
13Mismatch repair_Homo sapiens_hsa034302.20664331
14Basal cell carcinoma_Homo sapiens_hsa052172.20628128
15Proteasome_Homo sapiens_hsa030502.18757774
16DNA replication_Homo sapiens_hsa030301.99758303
17Adherens junction_Homo sapiens_hsa045201.92982616
18Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.88742363
19Basal transcription factors_Homo sapiens_hsa030221.88010435
20Central carbon metabolism in cancer_Homo sapiens_hsa052301.80657292
21Parkinsons disease_Homo sapiens_hsa050121.80085996
22Melanogenesis_Homo sapiens_hsa049161.78744645
23Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.77204041
24Olfactory transduction_Homo sapiens_hsa047401.72532312
25Synaptic vesicle cycle_Homo sapiens_hsa047211.72046741
26GABAergic synapse_Homo sapiens_hsa047271.71327636
27Circadian entrainment_Homo sapiens_hsa047131.70556186
28Non-homologous end-joining_Homo sapiens_hsa034501.68031601
29Huntingtons disease_Homo sapiens_hsa050161.62294544
30Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.57963130
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.50336991
32ECM-receptor interaction_Homo sapiens_hsa045121.48446991
33mTOR signaling pathway_Homo sapiens_hsa041501.46873333
34Cell cycle_Homo sapiens_hsa041101.45280318
35Nitrogen metabolism_Homo sapiens_hsa009101.41101068
36Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.40900905
37Wnt signaling pathway_Homo sapiens_hsa043101.36401107
38Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32012156
39Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.30168431
40Alzheimers disease_Homo sapiens_hsa050101.27056430
41RNA transport_Homo sapiens_hsa030131.26609999
42Spliceosome_Homo sapiens_hsa030401.26377149
43Amoebiasis_Homo sapiens_hsa051461.26286065
44Nucleotide excision repair_Homo sapiens_hsa034201.25854767
45Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.24740453
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.22853929
47Glioma_Homo sapiens_hsa052141.22150441
48Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.21947958
49Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.21912002
50Primary bile acid biosynthesis_Homo sapiens_hsa001201.20876514
51Proteoglycans in cancer_Homo sapiens_hsa052051.20643199
52Ribosome_Homo sapiens_hsa030101.20358859
53Insulin signaling pathway_Homo sapiens_hsa049101.15796999
54Axon guidance_Homo sapiens_hsa043601.14303497
55Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.13579046
56Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.13277155
57Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.12999746
58Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.12061564
59Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.11634999
60Glutamatergic synapse_Homo sapiens_hsa047241.10995093
61Hippo signaling pathway_Homo sapiens_hsa043901.10429445
62Protein digestion and absorption_Homo sapiens_hsa049741.08627408
63Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.08041112
64Cholinergic synapse_Homo sapiens_hsa047251.07950334
65Dorso-ventral axis formation_Homo sapiens_hsa043201.07450225
66Arginine biosynthesis_Homo sapiens_hsa002201.02463022
67Insulin secretion_Homo sapiens_hsa049111.02190187
68Type II diabetes mellitus_Homo sapiens_hsa049301.00211511
69Long-term potentiation_Homo sapiens_hsa047200.99029747
70Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.98833905
71Cardiac muscle contraction_Homo sapiens_hsa042600.98545088
72Pathways in cancer_Homo sapiens_hsa052000.97036654
73Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.96753782
74Longevity regulating pathway - mammal_Homo sapiens_hsa042110.95718632
75Morphine addiction_Homo sapiens_hsa050320.95524446
76Glucagon signaling pathway_Homo sapiens_hsa049220.94449157
77Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.93537197
78AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.93447987
79Tight junction_Homo sapiens_hsa045300.92812946
80Focal adhesion_Homo sapiens_hsa045100.92315878
81Base excision repair_Homo sapiens_hsa034100.92120950
82RNA degradation_Homo sapiens_hsa030180.91970796
83Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.91448233
84Thyroid hormone signaling pathway_Homo sapiens_hsa049190.90864656
85Maturity onset diabetes of the young_Homo sapiens_hsa049500.90483965
86Nicotine addiction_Homo sapiens_hsa050330.88112180
87Phospholipase D signaling pathway_Homo sapiens_hsa040720.87440936
88Bile secretion_Homo sapiens_hsa049760.87153792
89Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.86795858
90Regulation of autophagy_Homo sapiens_hsa041400.85087911
91Renal cell carcinoma_Homo sapiens_hsa052110.83801011
92Sulfur metabolism_Homo sapiens_hsa009200.82648661
93Vibrio cholerae infection_Homo sapiens_hsa051100.82223219
94Dopaminergic synapse_Homo sapiens_hsa047280.81997755
95Purine metabolism_Homo sapiens_hsa002300.81332014
96Pyrimidine metabolism_Homo sapiens_hsa002400.80607616
97Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.80460291
98Gap junction_Homo sapiens_hsa045400.79395129
99Arginine and proline metabolism_Homo sapiens_hsa003300.77360226
100Propanoate metabolism_Homo sapiens_hsa006400.77082574
101ErbB signaling pathway_Homo sapiens_hsa040120.76889492
102Gastric acid secretion_Homo sapiens_hsa049710.76255088
103Adipocytokine signaling pathway_Homo sapiens_hsa049200.75019978
104Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.74884291
105Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.74296140
106Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.72943456
107Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.72447432
108Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.72381848
109mRNA surveillance pathway_Homo sapiens_hsa030150.71052689
110Toxoplasmosis_Homo sapiens_hsa051450.70795135
111Cysteine and methionine metabolism_Homo sapiens_hsa002700.70711375
112Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.69506492
113Oxytocin signaling pathway_Homo sapiens_hsa049210.69448648
114Fatty acid degradation_Homo sapiens_hsa000710.67624379
115Dilated cardiomyopathy_Homo sapiens_hsa054140.67618521
116Oocyte meiosis_Homo sapiens_hsa041140.67180517
117Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.66852627
118Biosynthesis of amino acids_Homo sapiens_hsa012300.64777323
119Estrogen signaling pathway_Homo sapiens_hsa049150.64645172
120Tryptophan metabolism_Homo sapiens_hsa003800.63788075
121Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63472503
122N-Glycan biosynthesis_Homo sapiens_hsa005100.62768021
123Ether lipid metabolism_Homo sapiens_hsa005650.62405669
124Chronic myeloid leukemia_Homo sapiens_hsa052200.62373891
125Insulin resistance_Homo sapiens_hsa049310.62030322
126Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.61846948
127Rap1 signaling pathway_Homo sapiens_hsa040150.61371706
128Sulfur relay system_Homo sapiens_hsa041220.60240725
129Long-term depression_Homo sapiens_hsa047300.60146928
130Cocaine addiction_Homo sapiens_hsa050300.59819576
131Legionellosis_Homo sapiens_hsa051340.59653980
132Amphetamine addiction_Homo sapiens_hsa050310.58899112
133Serotonergic synapse_Homo sapiens_hsa047260.58569243
134Prion diseases_Homo sapiens_hsa050200.57718829
135MicroRNAs in cancer_Homo sapiens_hsa052060.57335522
136Taste transduction_Homo sapiens_hsa047420.57018883
137Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.56910727
138Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.55972108
139p53 signaling pathway_Homo sapiens_hsa041150.54559960
140Ovarian steroidogenesis_Homo sapiens_hsa049130.53731724
141Lysine degradation_Homo sapiens_hsa003100.51342494
142PI3K-Akt signaling pathway_Homo sapiens_hsa041510.49940577
143Neurotrophin signaling pathway_Homo sapiens_hsa047220.49762974
144Starch and sucrose metabolism_Homo sapiens_hsa005000.49592631
145Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.48719564
146Steroid biosynthesis_Homo sapiens_hsa001000.48380546
147Chemical carcinogenesis_Homo sapiens_hsa052040.47808246
148Butanoate metabolism_Homo sapiens_hsa006500.47444247
149Thyroid cancer_Homo sapiens_hsa052160.47114233
150Endometrial cancer_Homo sapiens_hsa052130.46984420
151cGMP-PKG signaling pathway_Homo sapiens_hsa040220.45384152
152Metabolic pathways_Homo sapiens_hsa011000.45282572
153Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.44855865
154Renin secretion_Homo sapiens_hsa049240.44390187
155Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.42911960
156Histidine metabolism_Homo sapiens_hsa003400.42880706
157Circadian rhythm_Homo sapiens_hsa047100.41910213
158Collecting duct acid secretion_Homo sapiens_hsa049660.39652236
159Pyruvate metabolism_Homo sapiens_hsa006200.38502738
160Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.38266609
161Peroxisome_Homo sapiens_hsa041460.38210341
162Steroid hormone biosynthesis_Homo sapiens_hsa001400.37674697
163beta-Alanine metabolism_Homo sapiens_hsa004100.36860514
164Phenylalanine metabolism_Homo sapiens_hsa003600.36097690
165TGF-beta signaling pathway_Homo sapiens_hsa043500.35495608
166Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.33495241
167Alcoholism_Homo sapiens_hsa050340.31979439
168Jak-STAT signaling pathway_Homo sapiens_hsa046300.31458643
169Glutathione metabolism_Homo sapiens_hsa004800.30963449
170Epstein-Barr virus infection_Homo sapiens_hsa051690.29948451
171Vitamin digestion and absorption_Homo sapiens_hsa049770.29687096
172Caffeine metabolism_Homo sapiens_hsa002320.23050802
173FoxO signaling pathway_Homo sapiens_hsa040680.19020587
174Inositol phosphate metabolism_Homo sapiens_hsa005620.17957452
175Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.16872633
176Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.15659254

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